| 1 | Anisotropic mechanical properties of pediatric osteogenesis imperfecta bone in three-point bending between disease phenotypes and controls. (Radmanovic K, McDonald M, LeSueur J, Canales B, Yang K, Smith P, Harris G, Fritz JM) J Biomech 2025 Oct;191:112911 |
| 1 | Multi-ancestral genome-wide association study of clinically defined nicotine dependence reveals strong genetic correlations with other substance use disorders and health-related traits. (Johnson EC, Lai D, Balbona JV, Miller AP, Hatoum AS, Deak JD, Jennings M, Baranger DAA, Galimberti M, Sanichwankul K, Thorgeirsson T, Colbert SMC, Adhikari K, Docherty AR, Degenhardt L, Edwards T, Fox L, Giannelis A, Jeffries PW, Korhonen T, Morrison CL, Nunez YZ, Palviainen T, Su MH, Romero Villela PN, Wetherill L, Willoughby EA, Zellers SM, Bierut LJ, Buchwald J, Copeland WE, Corley RP, Friedman NP, Foroud TM, Gillespie NA, Gizer IR, Heath AC, Hickie IB, Kaprio J, Keller MC, Lee JJ, Lind P, Madden PA, Maes HHM, Martin NG, McGue M, Medland SE, Nelson EC, Pearson J, Porjesz B, Stallings MC, Vrieze S, Wilhelmson KC, Kranzler HR, Walters RK, Polimanti R, Malison R, Zhou H, Stefansson K, Sanchez-Roige S, Potenza M, Mutirangura A, Shotelersuk V, Kalayasiri R, Edenberg HJ, Gelernter J, Agrawal A) Psychol Med 2025 Aug 20;55:e234 |
| 1 | Phenome-wide association study identifies multiple traits associated with a polygenic risk score for colorectal cancer. (Rosenthal EA, Wei WQ, Luo Y, Namjou-Khales B, Schaid DJ, Esplin ED, Lape M, Kottyan L, Pacheco JA, Weng C, Gordon AS, Kullo IJ, Crosslin DR, Grady WM, Hsu L, Peters U, Jarvik GP) Hum Genomics 2025 Jul 09;19(1):77 |
| 1 | Endothelial TERT drives microvascular phenotype associated with coronary artery disease. (Birch EC, Nishijima Y, Hader SN, Beyer AM) Am J Physiol Heart Circ Physiol 2025 Jul 01;329(1):H267-H270 |
| 2 | Reconsidering Social-Behavioral Phenotypes in Wolf-Hirschhorn Syndrome: Presentation of Two Cases Diagnosed with Autism Spectrum Disorder. (Glad DM, Vogt EM, Jones KL, Miller LE) Arch Clin Neuropsychol 2025 May 29 |
| 1 | Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding. (Friedman RK, Heath AS, Huffman JE, Baker JT, Hasbani NR, Gagliano Taliun SA, Chen MH, Howard TE, Lewis JP, Pankratz N, Patil S, Reiner AP, Thibord F, Yanek LR, Yao J, Chen HH, Curran JE, Faraday N, Guo X, Wheeler MM, Ryan KA, Zhou X, Cho K, Almasy L, Auer PL, Becker LC, Wilson PWF, Boerwinkle E, O'Connell JR, Rich SS, Samuels DC, National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, VA Million Veteran Program, Blangero J, Fornage M, Kooperberg C, Mathias RA, Mitchell BD, Rotter JI, Johnson AD, Smith NL, Coban-Akdemir ZH, Below JE, Morrison AC, Johnsen JM, de Vries PS) J Thromb Haemost 2025 Aug;23(8):2410-2421 1 Citation |
| 1 | GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations. (Merepa SS, Reis LM, Damián A, Bardakjian T, Schneider A, Trujillo-Tiebas MJ, Ayuso C, Galarza LC, Saez Villaverde R, Ortiz-Cabrera NV, Bax DA, Holt R, Ceroni F, Edery P, Grelet M, Riccardi F, Maillard L, Costakos D, Plaisancié J, Chassaing N, Corton M, Semina EV, Ragge NK) Eur J Hum Genet 2025 Jul;33(7):860-869 2 Citations |
| 1 | Automated identification of clinically meaningful biomechanical phenotypes in cerebral palsy through multicenter gait data. (Graf A, Krzak JJ, Kruger KM, Davids J, Smith R, Steinlein B, Bagley A) Clin Biomech (Bristol) 2025 May;125:106501 |
| 1 | A Phenome-Wide association study (PheWAS) of genetic risk for C-reactive protein in children of European Ancestry: Results from the ABCD study. (Norton SA, Gorelik AJ, Paul SE, Johnson EC, Baranger DA, Siudzinski JL, Li ZA, Bondy E, Modi H, Karcher NR, Hershey T, Hatoum AS, Agrawal A, Bogdan R) Brain Behav Immun 2025 Aug;128:487-496 |
| 1 | EndoPRS: Incorporating endophenotype information to improve polygenic risk scores for clinical endpoints-A study in asthma. (Kharitonova EV, Sun Q, Ockerman F, Chen B, Zhou LY, Hysong MR, Tuftin B, Cao H, Mathias RA, Auer PL, Ober C, Raffield LM, Reiner AP, Cox NJ, Kelada SNP, Tao R, Li Y) Am J Hum Genet 2025 May 01;112(5):1199-1214 |
| 1 | Is CPAP the best therapy for all phenotypes of OSA? A case of complete epiglottic collapse treated with CPAP. (Hajihossainlou B, Kogan D, Woodson T) Sleep Med 2025 May;129:412-415 |
| 1 | Malignant Giant Cell Tumor of Bone: A Clinicopathologic Series of 28 Cases Highlighting Genetic Differences Compared With Conventional, Atypical, and Metastasizing Conventional Tumors. (Papke DJ Jr, Kovacs SK, Odintsov I, Hornick JL, Raskin KA, Newman ET, Lozano-Calderón S, Chebib I, Hung YP, Nielsen GP) Am J Surg Pathol 2025 Jun 01;49(6):539-553 2 Citations |
| 2 | Unexpected Retinal Abnormalities in the Cone-Dominant Northern Tree Shrew. (Yu CT, Follett HM, Summerfelt P, Allen KP, Guillaume C, Freling S, Carroll J) Adv Exp Med Biol 2025;1468:235-239 |
| 1 | A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies. (Li X, Chen H, Selvaraj MS, Van Buren E, Zhou H, Wang Y, Sun R, McCaw ZR, Yu Z, Jiang MZ, DiCorpo D, Gaynor SM, Dey R, Arnett DK, Benjamin EJ, Bis JC, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Carson AP, Carlson JC, Chami N, Chen YI, Curran JE, de Vries PS, Fornage M, Franceschini N, Freedman BI, Gu C, Heard-Costa NL, He J, Hou L, Hung YJ, Irvin MR, Kaplan RC, Kardia SLR, Kelly TN, Konigsberg I, Kooperberg C, Kral BG, Li C, Li Y, Lin H, Liu CT, Loos RJF, Mahaney MC, Martin LW, Mathias RA, Mitchell BD, Montasser ME, Morrison AC, Naseri T, North KE, Palmer ND, Peyser PA, Psaty BM, Redline S, Reiner AP, Rich SS, Sitlani CM, Smith JA, Taylor KD, Tiwari HK, Vasan RS, Viali S, Wang Z, Wessel J, Yanek LR, Yu B, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Dupuis J, Meigs JB, Auer PL, Raffield LM, Manning AK, Rice KM, Rotter JI, Peloso GM, Natarajan P, Li Z, Liu Z, Lin X) Nat Comput Sci 2025 Feb;5(2):125-143 1 Citation |
| 2 | Establishing the hybrid rat diversity program: a resource for dissecting complex traits. (Dwinell MR, Takizawa A, Tutaj M, Malloy L, Schilling R, Endsley A, Demos WM, Smith JR, Wang SJ, De Pons J, Kundurthi A, Geurts AM, Kwitek AE) Mamm Genome 2025 Mar;36(1):25-37 |
| 1 | Characterization of the phenotypic consequences of the Duffy-null genotype. (Hysong MR, Shuey MM, Huffman JE, Auer P, Reiner A, Raffield LM) Blood Adv 2025 Mar 25;9(6):1452-1462 2 Citations |
| 1 | Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. (Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Regeneron Genetics Center, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B, NHLBI Trans-Omics for Precision Medicine Consortium, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL) Am J Hum Genet 2025 Feb 06;112(2):276-290 1 Citation |
| 2 | Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease. (Reis LM, Basel D, Bitoun P, Walton DS, Glaser T, Semina EV) Genes (Basel) 2024 Dec 20;15(12) |
| 1 | The PRIMED Consortium: Reducing disparities in polygenic risk assessment. (Kullo IJ, Conomos MP, Nelson SC, Adebamowo SN, Choudhury A, Conti D, Fullerton SM, Gogarten SM, Heavner B, Hornsby WE, Kenny EE, Khan A, Khera AV, Li Y, Martin I, Mercader JM, Ng M, Raffield LM, Reiner A, Rowley R, Schaid D, Stilp A, Wiley K, Wilson R, Witte JS, Natarajan P, Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium) Am J Hum Genet 2024 Dec 05;111(12):2594-2606 7 Citations |
| 1 | Recent Advances in Juvenile Dermatomyositis: Moving toward Integration of Myositis-Specific Antibody Clinical Phenotypes, IFN-Driven Pathogenesis, and Targeted Therapies. (Chen KL, Chiu YE, Vleugels RA, Co DO, Kim H, Sabbagh SE, Arkin LM) J Invest Dermatol 2025 Jun;145(6):1294-1304 1 Citation |
| 1 | Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series. (Gracie S, Deshpande P, Hollos P, De Dios K, Martin DM, Pritchard AB, Scott Schwoerer JA, Behrmann MR, Seaver LH, Brown K, Fernandez RJ, Larson A, Coffey E) Am J Med Genet A 2025 Mar;197(3):e63927 |
| 3 | Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome. (Goeser LE, Lalor L, Chiu YE, Muriello M) Am J Med Genet A 2025 Mar;197(3):e63898 |
| 1 | Promise and Peril of a Genotype-First Approach to Mendelian Cardiovascular Disease. (Asatryan B, Murray B, Tadros R, Rieder M, Shah RA, Sharaf Dabbagh G, Landstrom AP, Dobner S, Munroe PB, Haggerty CM, Medeiros-Domingo A, Owens AT, Kullo IJ, Semsarian C, Reichlin T, Barth AS, Roden DM, James CA, Ware JS, Chahal CAA, Genotype‐First Approach Investigators) J Am Heart Assoc 2024 Nov 05;13(21):e033557 4 Citations |
| 1 | Editorial: The complex phenotype of diabetic cardiomyopathy: clinical indicators and novel treatment targets. (Choudhury P, Kosuru R, Cai Y) Front Endocrinol (Lausanne) 2024;15:1497352 |
| 2 | KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development. (Gonzalez T, Tyler RC, Schilter KF, McCarrier J, Muriello M, Basel D, Reddi HV) Am J Med Genet A 2025 Feb;197(2):e63903 2 Citations |
| 1 | Phenotypes of Velopharyngeal Tube Law in Obstructive Sleep Apnea. (Kumar D, Woodson BT, Garcia GJM) Otolaryngol Head Neck Surg 2025 Jan;172(1):336-345 1 Citation |
| 1 | A multicenter analysis of individuals with a 47,XXY/46,XX karyotype. (Guess T, Wheeler FC, Yenamandra A, Schilit SLP, Anderson HS, Bone KM, Carstens B, Conlin L, Dulik MC, Dupont BR, Fanning E, Gardner JA, Haag M, Hilton BA, Johnson J, Kogan J, Murry J, Polonis K, Quigley DI, Repnikova EA, Rowsey RA, Spinner N, Stoeker M, Thurston V, Wiley M, Zhang L) Genet Med 2024 Oct;26(10):101212 |
| 1 | Creation and characterization of novel rat model for recessive dystrophic epidermolysis bullosa: Frameshift mutation of the Col7a1 gene leads to severe blistered phenotype. (Stone W, Strege C, Miller W, Geurts AM, Grzybowski M, Riddle M, Lees C, Eide C, Keene DR, Tufa SF, Seelig D, McGrath J, Tolar J) PLoS One 2024;19(5):e0302991 1 Citation |
| 1 | Alcohol milestones and internalizing, externalizing, and executive function: longitudinal and polygenic score associations. (Paul SE, Baranger DAA, Johnson EC, Jackson JJ, Gorelik AJ, Miller AP, Hatoum AS, Thompson WK, Strube M, Dick DM, Kamarajan C, Kramer JR, Plawecki MH, Chan G, Anokhin AP, Chorlian DB, Kinreich S, Meyers JL, Porjesz B, Edenberg HJ, Agrawal A, Bucholz KK, Bogdan R) Psychol Med 2024 Jul;54(10):2644-2657 |
| 1 | A Case of Weak D Serologic Phenotype. (Boshoven AM, Verhagen L) WMJ 2024 Feb;123(1):56-58 |
| 1 | Pan-cancer Genomic Analysis of AXL Mutations Reveals a Novel, Recurrent, Functionally Activating AXL W451C Alteration Specific to Myxofibrosarcoma. (Williams EA, Vegas I, El-Senduny FF, Zhang J, Mata DA, Hiemenz MC, Hughes SR, Sa BC, Kraft GP, Gorbatov N, Foley-Peres K, Sanchez EZ, Milikowski C, Williams KJ, Ross JS, Kurzrock R, Montgomery EA, Lombard DB, Kumar S) Am J Surg Pathol 2024 Jun 01;48(6):699-707 3 Citations |
| 1 | Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. (Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J) J Mol Diagn 2024 May;26(5):337-348 2 Citations |
| 1 | Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. (Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dunø M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, Genomics England Research Consortium, Küry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, Németh AH, Østergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M) Am J Hum Genet 2024 Mar 07;111(3):487-508 9 Citations |
| 1 | Improving polygenic risk prediction in admixed populations by explicitly modeling ancestral-differential effects via GAUDI. (Sun Q, Rowland BT, Chen J, Mikhaylova AV, Avery C, Peters U, Lundin J, Matise T, Buyske S, Tao R, Mathias RA, Reiner AP, Auer PL, Cox NJ, Kooperberg C, Thornton TA, Raffield LM, Li Y) Nat Commun 2024 Feb 03;15(1):1016 24 Citations |
| 1 | Appetitive and psychological phenotypes of pediatric patients with obesity. (Fox CK, Molitor SJ, Vock DM, Peterson CB, Crow SJ, Gross AC) Pediatr Obes 2024 Apr;19(4):e13101 3 Citations |
| 1 | MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis. (Shen L, Falk MJ, Gai X) Curr Protoc 2024 Jan;4(1):e955 2 Citations |
| 1 | The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change. (Christopherson PA, Tijet N, Haberichter SL, Flood VH, Ross J, Notley C, Rawley O, Montgomery RR, Zimmerman Project Investigators, James PD, Lillicrap D) J Thromb Haemost 2024 Mar;22(3):666-675 8 Citations |
| 1 | Data-driven distillation and precision prognosis in traumatic brain injury with interpretable machine learning. (Tritt A, Yue JK, Ferguson AR, Torres Espin A, Nelson LD, Yuh EL, Markowitz AJ, Manley GT, Bouchard KE, TRACK-TBI Investigators) Sci Rep 2023 Dec 01;13(1):21200 6 Citations |
| 1 | Studying Long QT Syndrome Caused by NAA10 Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells. (Belbachir N, Wu Y, Shen M, Zhang SL, Zhang JZ, Liu C, Knollmann BC, Lyon GJ, Ma N, Wu JC) Circulation 2023 Nov 14;148(20):1598-1601 12 Citations |
| 1 | Deep generative models of LDLR protein structure to predict variant pathogenicity. (James JK, Norland K, Johar AS, Kullo IJ) J Lipid Res 2023 Dec;64(12):100455 3 Citations |
| 1 | A linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease. (Norland K, Schaid DJ, Kullo IJ) Eur J Hum Genet 2024 Feb;32(2):209-214 7 Citations |
| 1 | PharmVar Tutorial on CYP2D6 Structural Variation Testing and Recommendations on Reporting. (Turner AJ, Nofziger C, Ramey BE, Ly RC, Bousman CA, Agúndez JAG, Sangkuhl K, Whirl-Carrillo M, Vanoni S, Dunnenberger HM, Ruaño G, Kennedy MA, Phillips MS, Hachad H, Klein TE, Moyer AM, Gaedigk A) Clin Pharmacol Ther 2023 Dec;114(6):1220-1237 20 Citations |
| 1 | CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology. (Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K) Eur J Hum Genet 2023 Nov;31(11):1251-1260 9 Citations |
| 1 | Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19. (Sun Q, Rowland B, Wang W, Miller-Fleming TW, Cox N, Graff M, Faucon A, Shuey MM, Blue EE, Auer P, Li Y, Sankaran VG, Reiner AP, Raffield LM) Blood Cells Mol Dis 2023 Nov;103:102782 |
| 1 | Transcriptomic profiles of multiple organ dysfunction syndrome phenotypes in pediatric critical influenza. (Novak T, Crawford JC, Hahn G, Hall MW, Thair SA, Newhams MM, Chou J, Mourani PM, Tarquinio KM, Markovitz B, Loftis LL, Weiss SL, Higgerson R, Schwarz AJ, Pinto NP, Thomas NJ, Gedeit RG, Sanders RC Jr, Mahapatra S, Coates BM, Cvijanovich NZ, Ackerman KG, Tellez DW, McQuillen P, Kurachek SC, Shein SL, Lange C, Thomas PG, Randolph AG) Front Immunol 2023;14:1220028 10 Citations |
| 1 | Changes in environmental stress over COVID-19 pandemic likely contributed to failure to replicate adiposity phenotype associated with Krtcap3. (Szalanczy AM, Giorgio G, Goff E, Seshie O, Grzybowski M, Klotz J, Geurts AM, Redei EE, Solberg Woods LC) Physiol Genomics 2023 Oct 01;55(10):452-467 2 Citations |
| 2 | Decreased Cerebrovascular Reactivity in Mild Cognitive Impairment Phenotypes. (Glass Umfleet L, Pommy J, Cohen AD, Allen M, Obarski S, Mason L, Berres H, Franczak M, Wang Y) J Alzheimers Dis 2023;94(4):1503-1513 4 Citations |
| 1 | Depleted hexokinase1 and lack of AMPKα activation favor OXPHOS-dependent energetics in retinoblastoma tumors. (Babu VS, Mallipatna A, Dudeja G, Shetty R, Nair AP, Tun SBB, Ho CEH, Chaurasia SS, Bhattacharya SS, Verma NK, Lakshminarayanan R, Guha N, Heymans S, Barathi VA, Ghosh A) Transl Res 2023 Nov;261:41-56 5 Citations |
| 1 | Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. (Harris RA, Bush AH, Eagar TN, Qian J, Greenwood MP, Opekun AR, Baldassano R, Guthery SL, Noe JD, Otley A, Rosh JR, Kugathasan S, Kellermayer R) J Pediatr Gastroenterol Nutr 2023 Sep 01;77(3):354-357 5 Citations |
| 2 | The Rat Genome Database: Genetic, Genomic, and Phenotypic Data Across Multiple Species. (Laulederkind SJF, Hayman GT, Wang SJ, Kaldunski ML, Vedi M, Demos WM, Tutaj M, Smith JR, Lamers L, Gibson AC, Thorat K, Thota J, Tutaj MA, de Pons JL, Dwinell MR, Kwitek AE) Curr Protoc 2023 Jun;3(6):e804 6 Citations |
| 2 | Pathologic, immunologic, and clinical analysis of the microsatellite instability phenotype in endometrial carcinoma. (Mackinnon AC Jr, Johnson CM, Robin A, Christiansen L, Hanbazazh M, Summey RM, Chandrashaker D, Harada S, Bradley WH) Hum Pathol 2023 Sep;139:80-90 3 Citations |
| 4 | Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency. (Nagree MS, Rybova J, Kleynerman A, Ahrenhoerster CJ, Saville JT, Xu T, Bachochin M, McKillop WM, Lawlor MW, Pshezhetsky AV, Isaeva O, Budde MD, Fuller M, Medin JA) Commun Biol 2023 May 25;6(1):560 10 Citations |
| 1 | Multi-omics cannot replace sample size in genome-wide association studies. (Baranger DAA, Hatoum AS, Polimanti R, Gelernter J, Edenberg HJ, Bogdan R, Agrawal A) Genes Brain Behav 2023 Dec;22(6):e12846 4 Citations |
| 9 | Collagen-Specific HSP47+ Myofibroblasts and CD163+ Macrophages Identify Profibrotic Phenotypes in Deceased Hearts With SARS-CoV-2 Infections. (Puzyrenko A, Jacobs ER, Padilla N, Devine A, Aljadah M, Gantner BN, Pan AY, Lai S, Dai Q, Rubenstein JC, North PE, Simpson PM, Willoughby RE, O'Meara CC, Flinn MA, Lough JW, Ibrahim EH, Zheng Z, Sun Y, Felix J, Hunt BC, Ross G, Rui H, Benjamin IJ) J Am Heart Assoc 2023 Feb 21;12(4):e027990 7 Citations |
| 1 | Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network. (Pacheco JA, Rasmussen LV, Wiley K Jr, Person TN, Cronkite DJ, Sohn S, Murphy S, Gundelach JH, Gainer V, Castro VM, Liu C, Mentch F, Lingren T, Sundaresan AS, Eickelberg G, Willis V, Furmanchuk A, Patel R, Carrell DS, Deng Y, Walton N, Satterfield BA, Kullo IJ, Dikilitas O, Smith JC, Peterson JF, Shang N, Kiryluk K, Ni Y, Li Y, Nadkarni GN, Rosenthal EA, Walunas TL, Williams MS, Karlson EW, Linder JE, Luo Y, Weng C, Wei W) Sci Rep 2023 Feb 03;13(1):1971 6 Citations |
| 1 | Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis. (Kanoni S, Graham SE, Wang Y, Surakka I, Ramdas S, Zhu X, Clarke SL, Bhatti KF, Vedantam S, Winkler TW, Locke AE, Marouli E, Zajac GJM, Wu KH, Ntalla I, Hui Q, Klarin D, Hilliard AT, Wang Z, Xue C, Thorleifsson G, Helgadottir A, Gudbjartsson DF, Holm H, Olafsson I, Hwang MY, Han S, Akiyama M, Sakaue S, Terao C, Kanai M, Zhou W, Brumpton BM, Rasheed H, Havulinna AS, Veturi Y, Pacheco JA, Rosenthal EA, Lingren T, Feng Q, Kullo IJ, Narita A, Takayama J, Martin HC, Hunt KA, Trivedi B, Haessler J, Giulianini F, Bradford Y, Miller JE, Campbell A, Lin K, Millwood IY, Rasheed A, Hindy G, Faul JD, Zhao W, Weir DR, Turman C, Huang H, Graff M, Choudhury A, Sengupta D, Mahajan A, Brown MR, Zhang W, Yu K, Schmidt EM, Pandit A, Gustafsson S, Yin X, Luan J, Zhao JH, Matsuda F, Jang HM, Yoon K, Medina-Gomez C, Pitsillides A, Hottenga JJ, Wood AR, Ji Y, Gao Z, Haworth S, Yousri NA, Mitchell RE, Chai JF, Aadahl M, Bjerregaard AA, Yao J, Manichaikul A, Hwu CM, Hung YJ, Warren HR, Ramirez J, Bork-Jensen J, Kårhus LL, Goel A, Sabater-Lleal M, Noordam R, Mauro P, Matteo F, McDaid AF, Marques-Vidal P, Wielscher M, Trompet S, Sattar N, Møllehave LT, Munz M, Zeng L, Huang J, Yang B, Poveda A, Kurbasic A, Lamina C, Forer L, Scholz M, Galesloot TE, Bradfield JP, Ruotsalainen SE, Daw E, Zmuda JM, Mitchell JS, Fuchsberger C, Christensen H, Brody JA, Vazquez-Moreno M, Feitosa MF, Wojczynski MK, Wang Z, Preuss MH, Mangino M, Christofidou P, Verweij N, Benjamins JW, Engmann J, Tsao NL, Verma A, Slieker RC, Lo KS, Zilhao NR, Le P, Kleber ME, Delgado GE, Huo S, Ikeda DD, Iha H, Yang J, Liu J, Demirkan A, Leonard HL, Marten J, Frank M, Schmidt B, Smyth LJ, Cañadas-Garre M, Wang C, Nakatochi M, Wong A, Hutri-Kähönen N, Sim X, Xia R, Huerta-Chagoya A, Fernandez-Lopez JC, Lyssenko V, Nongmaithem SS, Bayyana S, Stringham HM, Irvin MR, Oldmeadow C, Kim HN, Ryu S, Timmers PRHJ, Arbeeva L, Dorajoo R, Lange LA, Prasad G, Lorés-Motta L, Pauper M, Long J, Li X, Theusch E, Takeuchi F, Spracklen CN, Loukola A, Bollepalli S, Warner SC, Wang YX, Wei WB, Nutile T, Ruggiero D, Sung YJ, Chen S, Liu F, Yang J, Kentistou KA, Banas B, Nardone GG, Meidtner K, Bielak LF, Smith JA, Hebbar P, Farmaki AE, Hofer E, Lin M, Concas MP, Vaccargiu S, van der Most PJ, Pitkänen N, Cade BE, van der Laan SW, Chitrala KN, Weiss S, Bentley AR, Doumatey AP, Adeyemo AA, Lee JY, Petersen ERB, Nielsen AA, Choi HS, Nethander M, Freitag-Wolf S, Southam L, Rayner NW, Wang CA, Lin SY, Wang JS, Couture C, Lyytikäinen LP, Nikus K, Cuellar-Partida G, Vestergaard H, Hidalgo B, Giannakopoulou O, Cai Q, Obura MO, van Setten J, Li X, Liang J, Tang H, Terzikhan N, Shin JH, Jackson RD, Reiner AP, Martin LW, Chen Z, Li L, Kawaguchi T, Thiery J, Bis JC, Launer LJ, Li H, Nalls MA, Raitakari OT, Ichihara S, Wild SH, Nelson CP, Campbell H, Jäger S, Nabika T, Al-Mulla F, Niinikoski H, Braund PS, Kolcic I, Kovacs P, Giardoglou T, Katsuya T, de Kleijn D, de Borst GJ, Kim EK, Adams HHH, Ikram MA, Zhu X, Asselbergs FW, Kraaijeveld AO, Beulens JWJ, Shu XO, Rallidis LS, Pedersen O, Hansen T, Mitchell P, Hewitt AW, Kähönen M, Pérusse L, Bouchard C, Tönjes A, Chen YI, Pennell CE, Mori TA, Lieb W, Franke A, Ohlsson C, Mellström D, Cho YS, Lee H, Yuan JM, Koh WP, Rhee SY, Woo JT, Heid IM, Stark KJ, Zimmermann ME, Völzke H, Homuth G, Evans MK, Zonderman AB, Polasek O, Pasterkamp G, Hoefer IE, Redline S, Pahkala K, Oldehinkel AJ, Snieder H, Biino G, Schmidt R, Schmidt H, Bandinelli S, Dedoussis G, Thanaraj TA, Kardia SLR, Peyser PA, Kato N, Schulze MB, Girotto G, Böger CA, Jung B, Joshi PK, Bennett DA, De Jager PL, Lu X, Mamakou V, Brown M, Caulfield MJ, Munroe PB, Guo X, Ciullo M, Jonas JB, Samani NJ, Kaprio J, Pajukanta P, Tusié-Luna T, Aguilar-Salinas CA, Adair LS, Bechayda SA, de Silva HJ, Wickremasinghe AR, Krauss RM, Wu JY, Zheng W, Hollander AI, Bharadwaj D, Correa A, Wilson JG, Lind L, Heng CK, Nelson AE, Golightly YM, Wilson JF, Penninx B, Kim HL, Attia J, Scott RJ, Rao DC, Arnett DK, Hunt SC, Walker M, Ko) Genome Biol 2022 Dec 27;23(1):268 33 Citations |
| 1 | Characterizing variability of electronic health record-driven phenotype definitions. (Brandt PS, Kho A, Luo Y, Pacheco JA, Walunas TL, Hakonarson H, Hripcsak G, Liu C, Shang N, Weng C, Walton N, Carrell DS, Crane PK, Larson EB, Chute CG, Kullo IJ, Carroll R, Denny J, Ramirez A, Wei WQ, Pathak J, Wiley LK, Richesson R, Starren JB, Rasmussen LV) J Am Med Inform Assoc 2023 Feb 16;30(3):427-437 14 Citations |
| 1 | Nucleosome Patterns in Circulating Tumor DNA Reveal Transcriptional Regulation of Advanced Prostate Cancer Phenotypes. (De Sarkar N, Patton RD, Doebley AL, Hanratty B, Adil M, Kreitzman AJ, Sarthy JF, Ko M, Brahma S, Meers MP, Janssens DH, Ang LS, Coleman IM, Bose A, Dumpit RF, Lucas JM, Nunez TA, Nguyen HM, McClure HM, Pritchard CC, Schweizer MT, Morrissey C, Choudhury AD, Baca SC, Berchuck JE, Freedman ML, Ahmad K, Haffner MC, Montgomery RB, Corey E, Henikoff S, Nelson PS, Ha G) Cancer Discov 2023 Mar 01;13(3):632-653 44 Citations |
| 2 | Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics. (Robinson JR, Carroll RJ, Bastarache L, Chen Q, Pirruccello J, Mou Z, Wei WQ, Connolly J, Mentch F, Crane PK, Hebbring SJ, Crosslin DR, Gordon AS, Rosenthal EA, Stanaway IB, Hayes MG, Wei W, Petukhova L, Namjou-Khales B, Zhang G, Safarova MS, Walton NA, Still C, Bottinger EP, Loos RJF, Murphy SN, Jackson GP, Abumrad N, Kullo IJ, Jarvik GP, Larson EB, Weng C, Roden D, Khera AV, Denny JC) Obesity (Silver Spring) 2022 Dec;30(12):2477-2488 4 Citations |
| 3 | TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. (Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR) Am J Hum Genet 2022 Dec 01;109(12):2270-2282 12 Citations |
| 1 | Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms. (Huguenard AL, Johnson GW, Desai RR, Osbun JW, Dacey RG, Braverman AC) J Neurosurg 2023 May 01;138(5):1385-1392 9 Citations |
| 1 | A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. (Li Z, Li X, Zhou H, Gaynor SM, Selvaraj MS, Arapoglou T, Quick C, Liu Y, Chen H, Sun R, Dey R, Arnett DK, Auer PL, Bielak LF, Bis JC, Blackwell TW, Blangero J, Boerwinkle E, Bowden DW, Brody JA, Cade BE, Conomos MP, Correa A, Cupples LA, Curran JE, de Vries PS, Duggirala R, Franceschini N, Freedman BI, Göring HHH, Guo X, Kalyani RR, Kooperberg C, Kral BG, Lange LA, Lin BM, Manichaikul A, Manning AK, Martin LW, Mathias RA, Meigs JB, Mitchell BD, Montasser ME, Morrison AC, Naseri T, O'Connell JR, Palmer ND, Peyser PA, Psaty BM, Raffield LM, Redline S, Reiner AP, Reupena MS, Rice KM, Rich SS, Smith JA, Taylor KD, Taub MA, Vasan RS, Weeks DE, Wilson JG, Yanek LR, Zhao W, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Lipids Working Group, Rotter JI, Willer CJ, Natarajan P, Peloso GM, Lin X) Nat Methods 2022 Dec;19(12):1599-1611 64 Citations |
| 1 | Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches. (Daruich A, Duncan M, Robert MP, Lagali N, Semina EV, Aberdam D, Ferrari S, Romano V, des Roziers CB, Benkortebi R, De Vergnes N, Polak M, Chiambaretta F, Nischal KK, Behar-Cohen F, Valleix S, Bremond-Gignac D) Prog Retin Eye Res 2023 Jul;95:101133 42 Citations |
| 1 | Network phenotypes and their clinical significance in temporal lobe epilepsy using machine learning applications to morphological and functional graph theory metrics. (Garcia-Ramos C, Nair V, Maganti R, Mathis J, Conant LL, Prabhakaran V, Binder JR, Meyerand B, Hermann B, Struck AF) Sci Rep 2022 Aug 24;12(1):14407 13 Citations |
| 1 | Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. (Sherafati A, Elsekaily O, Saadatagah S, Kochan DC, Lee C, Wiesner GL, Liu C, Dellefave-Castillo L, Namjou B, Perez EF, Salvati ZM, Connolly JJ, Hakonarson H, Williams MS, Jarvik GP, Chung WK, McNally EM, Manolio TA, Kullo IJ) Genet Med 2022 Oct;24(10):2123-2133 |
| 3 | Novel Genetic Diagnoses in Septo-Optic Dysplasia. (Reis LM, Seese S, Maheshwari M, Basel D, Weik L, McCarrier J, University Of Washington Center For Mendelian Genomics, Semina EV) Genes (Basel) 2022 Jun 28;13(7) 11 Citations |
| 1 | The metabolic phenotype of patients with primary aldosteronism: impact of subtype and sex - a multicenter-study of 3566 Caucasian and Asian subjects. (Spyroglou A, Handgriff L, Müller L, Schwarzlmüller P, Parasiliti-Caprino M, Fuss CT, Remde H, Hirsch A, O'Toole SM, Thuzar M, Petramala L, Letizia C, Deflorenne E, Amar L, Vrckovnik R, Kocjan T, Zhang CD, Li D, Singh S, Katabami T, Yoneda T, Murakami M, Wada N, Inagaki N, Quinkler M, Ghigo E, Maccario M, Stowasser M, Drake WM, Fassnacht M, Bancos I, Reincke M, Naruse M, Beuschlein F) Eur J Endocrinol 2022 Sep 01;187(3):361-372 13 Citations |
| 1 | Moderation effects in personality disorder research. (Vize CE, Baranger DAA, Finsaas MC, Goldstein BL, Olino TM, Lynam DR) Personal Disord 2023 Jan;14(1):118-126 13 Citations |
| 1 | Neurobiologically Based Stratification of Recent-Onset Depression and Psychosis: Identification of Two Distinct Transdiagnostic Phenotypes. (Lalousis PA, Schmaal L, Wood SJ, Reniers RLEP, Barnes NM, Chisholm K, Griffiths SL, Stainton A, Wen J, Hwang G, Davatzikos C, Wenzel J, Kambeitz-Ilankovic L, Andreou C, Bonivento C, Dannlowski U, Ferro A, Lichtenstein T, Riecher-Rössler A, Romer G, Rosen M, Bertolino A, Borgwardt S, Brambilla P, Kambeitz J, Lencer R, Pantelis C, Ruhrmann S, Salokangas RKR, Schultze-Lutter F, Schmidt A, Meisenzahl E, Koutsouleris N, Dwyer D, Upthegrove R, PRONIA Consortium) Biol Psychiatry 2022 Oct 01;92(7):552-562 24 Citations |
| 1 | Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. (Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW) Genome Med 2022 Jun 13;14(1):62 12 Citations |
| 1 | Haploinsufficiency of a Circadian Clock Gene Bmal1 (Arntl or Mop3) Causes Brain-Wide mTOR Hyperactivation and Autism-like Behavioral Phenotypes in Mice. (Singla R, Mishra A, Lin H, Lorsung E, Le N, Tin S, Jin VX, Cao R) Int J Mol Sci 2022 Jun 05;23(11) 16 Citations |
| 1 | The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression. (Klein-Tasman BP, Yund BD, Mervis CB) J Dev Behav Pediatr 2022 Aug 01;43(6):e390-e398 6 Citations |
| 1 | Female-Specific Features of Metabolic Syndrome in an LH Congenic Rat. (Clark KC, Wagner VA, Holl KL, Reho JJ, Grobe JL, Kwitek AE) FASEB J 2022 May;36 Suppl 1 |
| 1 | Therapeutic Implications for Intrinsic Phenotype Classification of Metastatic Castration-Resistant Prostate Cancer. (Coleman IM, DeSarkar N, Morrissey C, Xin L, Roudier MP, Sayar E, Li D, Corey E, Haffner MC, Nelson PS) Clin Cancer Res 2022 Jul 15;28(14):3127-3140 27 Citations |
| 1 | Molecular pathogenesis and heterogeneity in type 3 VWD families in U.S. Zimmerman program. (Christopherson PA, Haberichter SL, Flood VH, Perry CL, Sadler BE, Bellissimo DB, Di Paola J, Montgomery RR, Zimmerman Program Investigators) J Thromb Haemost 2022 Jul;20(7):1576-1588 13 Citations |
| 1 | SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. (Al-Jawahiri R, Foroutan A, Kerkhof J, McConkey H, Levy M, Haghshenas S, Rooney K, Turner J, Shears D, Holder M, Lefroy H, Castle B, Reis LM, Semina EV, University of Washington Centre for Mendelian Genomics (UW-CMG), Lachlan K, Chandler K, Wright T, Clayton-Smith J, Hug FP, Pitteloud N, Bartoloni L, Hoffjan S, Park SM, Thankamony A, Lees M, Wakeling E, Naik S, Hanker B, Girisha KM, Agolini E, Giuseppe Z, Alban Z, Tessarech M, Keren B, Afenjar A, Zweier C, Reis A, Smol T, Tsurusaki Y, Nobuhiko O, Sekiguchi F, Tsuchida N, Matsumoto N, Kou I, Yonezawa Y, Ikegawa S, Callewaert B, Freeth M, Genomics England Research Consortium, Kleinendorst L, Donaldson A, Alders M, De Paepe A, Sadikovic B, McNeill A) Genet Med 2022 Jun;24(6):1261-1273 22 Citations |
| 1 | Methods for Isolating and Defining Single-Cell Transcriptomes of Tissue-Resident Human NK Cells. (Hashemi E, Mei A, Wang D, Khalil M, Malarkannan S) Methods Mol Biol 2022;2463:103-116 |
| 1 | De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. (Dohrn MF, Rebelo AP, Srivastava S, Cappuccio G, Smigiel R, Malhotra A, Basel D, van de Laar I, Neuteboom RF, Aarts-Tesselaar C, Mahida S, Brunetti-Pierri N, Taft RJ, Züchner S) Neurology 2022 Mar 15;98(11):440-445 6 Citations |
| 1 | Lymphocyte subset abnormalities in early severe scleroderma favor a Th2 phenotype and are not altered by prior immunosuppressive therapy. (Shah A, Storek J, Woolson R, Pinckney A, Keyes-Elstein L, Wallace PK, Sempowski GD, McSweeney P, Mayes MD, Crofford L, Csuka ME, Phillips K, Khanna D, Simms R, Ballen K, LeClercq S, Clair WS, Nixon AB, Nash R, Wener M, Brasington R, Silver R, Griffith LM, Furst DE, Goldmuntz E, Sullivan KM) Rheumatology (Oxford) 2022 Oct 06;61(10):4155-4162 8 Citations |
| 1 | Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions. (Yu J, Pacheco JA, Ghosh AS, Luo Y, Weng C, Shang N, Benoit B, Carrell DS, Carroll RJ, Dikilitas O, Freimuth RR, Gainer VS, Hakonarson H, Hripcsak G, Kullo IJ, Mentch F, Murphy SN, Peissig PL, Ramirez AH, Walton N, Wei WQ, Rasmussen LV) BMC Med Inform Decis Mak 2022 Jan 28;22(1):23 3 Citations |
| 6 | Unique Associations of DNA Methylation Regions With 24-Hour Blood Pressure Phenotypes in Black Participants. (Roberts ML, Kotchen TA, Pan X, Li Y, Yang C, Liu P, Wang T, Laud PW, Chelius TH, Munyura Y, Mattson DL, Liu Y, Cowley AW Jr, Kidambi S, Liang M) Hypertension 2022 Apr;79(4):761-772 20 Citations |
| 2 | Donor T-Cell Repertoire Profiling in Recipient Lymphoid and Parenchyma Organs Reveals GVHD Pathogenesis at Clonal Levels After Bone Marrow Transplantation in Mice. (Wu Y, Fu J, Wang H, Yu XZ) Front Immunol 2021;12:778996 4 Citations |
| 1 | Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study. (Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A, Mosley JD, Van Driest SL, Wells QS, Shaffer LL, Kalash OR, Wada Y, Bland HT, Yoneda ZT, Mitchell DW, Kroncke BM, Kullo IJ, Jarvik GP, Gordon AS, Larson EB, Manolio TA, Mirshahi T, Luo JZ, Schaid D, Namjou B, Alsaied T, Singh R, Singhal A, Liu C, Weng C, Hripcsak G, Ralston JD, McNally EM, Chung WK, Carrell DS, Leppig KA, Hakonarson H, Sleiman P, Sohn S, Glessner J, eMERGE Network, Denny J, Wei WQ, George AL Jr, Shoemaker MB, Roden DM) Circulation 2022 Mar 22;145(12):877-891 22 Citations |
| 1 | Ablation of mpeg+ Macrophages Exacerbates mfrp-Related Hyperopia. (Brandt ZJ, Collery RF, Besharse JC, Link BA) Invest Ophthalmol Vis Sci 2021 Dec 01;62(15):13 1 Citation |
| 1 | Biomarkers in Childhood-Onset Systemic Lupus Erythematosus. (Cody EM, Brunner HI) Rheum Dis Clin North Am 2022 Feb;48(1):271-285 5 Citations |
| 1 | Bleeding patterns in patients before and after diagnosis of von Willebrand disease: Analysis of a US medical claims database. (Roberts JC, Malec LM, Halari I, Hale SA, Oladapo A, Sidonio RF Jr) Haemophilia 2022 Jan;28(1):97-108 7 Citations |
| 1 | X-linked myotubular myopathy. (Lawlor MW, Dowling JJ) Neuromuscul Disord 2021 Oct;31(10):1004-1012 48 Citations |
| 1 | Diet and Liver Adiposity in Older Adults: The Multiethnic Cohort Adiposity Phenotype Study. (Kaenkumchorn TK, Merritt MA, Lim U, Le Marchand L, Boushey CJ, Shepherd JA, Wilkens LR, Ernst T, Lampe JW) J Nutr 2021 Nov 02;151(11):3579-3587 2 Citations |
| 1 | Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. (Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MP, Blackwell TW, Brody JA, Broome J, Chami N, Chen MH, Conomos MP, Cox C, Curran JE, Daya M, Ekunwe L, Glahn DC, Heard-Costa N, Highland HM, Hobbs BD, Ilboudo Y, Jain D, Lange LA, Miller-Fleming TW, Min N, Moon JY, Preuss MH, Rosen J, Ryan K, Smith AV, Sun Q, Surendran P, de Vries PS, Walter K, Wang Z, Wheeler M, Yanek LR, Zhong X, Abecasis GR, Almasy L, Barnes KC, Beaty TH, Becker LC, Blangero J, Boerwinkle E, Butterworth AS, Chavan S, Cho MH, Choquet H, Correa A, Cox N, DeMeo DL, Faraday N, Fornage M, Gerszten RE, Hou L, Johnson AD, Jorgenson E, Kaplan R, Kooperberg C, Kundu K, Laurie CA, Lettre G, Lewis JP, Li B, Li Y, Lloyd-Jones DM, Loos RJF, Manichaikul A, Meyers DA, Mitchell BD, Morrison AC, Ngo D, Nickerson DA, Nongmaithem S, North KE, O'Connell JR, Ortega VE, Pankratz N, Perry JA, Psaty BM, Rich SS, Soranzo N, Rotter JI, Silverman EK, Smith NL, Tang H, Tracy RP, Thornton TA, Vasan RS, Zein J, Mathias RA, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Reiner AP, Auer PL) Am J Hum Genet 2021 Oct 07;108(10):1836-1851 17 Citations |
| 1 | Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative. (Little A, Hu Y, Sun Q, Jain D, Broome J, Chen MH, Thibord F, McHugh C, Surendran P, Blackwell TW, Brody JA, Bhan A, Chami N, de Vries PS, Ekunwe L, Heard-Costa N, Hobbs BD, Manichaikul A, Moon JY, Preuss MH, Ryan K, Wang Z, Wheeler M, Yanek LR, Abecasis GR, Almasy L, Beaty TH, Becker LC, Blangero J, Boerwinkle E, Butterworth AS, Choquet H, Correa A, Curran JE, Faraday N, Fornage M, Glahn DC, Hou L, Jorgenson E, Kooperberg C, Lewis JP, Lloyd-Jones DM, Loos RJF, Min YI, Mitchell BD, Morrison AC, Nickerson DA, North KE, O'Connell JR, Pankratz N, Psaty BM, Vasan RS, Rich SS, Rotter JI, Smith AV, Smith NL, Tang H, Tracy RP, Conomos MP, Laurie CA, Mathias RA, Li Y, Auer PL, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Thornton T, Reiner AP, Johnson AD, Raffield LM) Hum Mol Genet 2022 Feb 03;31(3):347-361 12 Citations |
| 1 | Induced Pluripotent Stem Cells From Subjects With Primary Sclerosing Cholangitis Develop a Senescence Phenotype Following Biliary Differentiation. (Jalan-Sakrikar N, De Assuncao TM, Navarro-Corcuera A, Hamdan FH, Loarca L, Kirkeby LA, Resch ZT, O'Hara SP, Juran BD, Lazaridis KN, Rosen CB, Heimbach JK, Taner T, Shah VH, LaRusso NF, Huebert RC) Hepatol Commun 2022 Feb;6(2):345-360 17 Citations |
| 2 | Implications of a 'Third Signal' in NK Cells. (Khalil M, Wang D, Hashemi E, Terhune SS, Malarkannan S) Cells 2021 Jul 31;10(8) 8 Citations |
| 1 | Progress and Research Priorities in Imaging Genomics for Heart and Lung Disease: Summary of an NHLBI Workshop. (Nayor M, Shen L, Hunninghake GM, Kochunov P, Barr RG, Bluemke DA, Broeckel U, Caravan P, Cheng S, de Vries PS, Hoffmann U, Kolossváry M, Li H, Luo J, McNally EM, Thanassoulis G, Arnett DK, Vasan RS) Circ Cardiovasc Imaging 2021 Aug;14(8):e012943 3 Citations |
| 1 | Serologic Response to Borrelia Antigens Varies with Clinical Phenotype in Children and Young Adults with Lyme Disease. (Radtke FA, Ramadoss N, Garro A, Bennett JE, Levas MN, Robinson WH, Nigrovic PA, Nigrovic LE, for Pedi Lyme Net) J Clin Microbiol 2021 Oct 19;59(11):e0134421 7 Citations |
| 1 | Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing. (Domm JM, Wootton SK, Medin JA, West ML) Mol Genet Metab 2021;134(1-2):117-131 36 Citations |
| 1 | Anti-Cortactin Autoantibodies Are Associated With Key Clinical Features in Adult Myositis But Are Rarely Present in Juvenile Myositis. (Pinal-Fernandez I, Pak K, Gil-Vila A, Baucells A, Plotz B, Casal-Dominguez M, Derfoul A, Martinez-Carretero MA, Selva-O'Callaghan A, Sabbagh S, Casciola-Rosen L, Albayda J, Paik J, Tiniakou E, Danoff SK, Lloyd TE, Miller FW, Rider LG, Christopher-Stine L, Mammen AL, Childhood Myositis Heterogeneity Collaborative Study Group) Arthritis Rheumatol 2022 Feb;74(2):358-364 9 Citations |
| 1 | PhenoGeneRanker: Gene and Phenotype Prioritization Using Multiplex Heterogeneous Networks. (Dursun C, Kwitek AE, Bozdag S) IEEE/ACM Trans Comput Biol Bioinform 2022;19(5):2950-2962 4 Citations |
| 1 | Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. (Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Undiagnosed Diseases Network, Genomics England Research Consortium, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN) Nat Genet 2021 Jul;53(7):1006-1021 62 Citations |
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| 1 | Network topology of the cognitive phenotypes of temporal lobe epilepsy. (Garcia-Ramos C, Struck AF, Cook C, Prabhakaran V, Nair V, Maganti R, Binder JR, Meyerand M, Conant LL, Hermann B) Cortex 2021 Aug;141:55-65 19 Citations |
| 1 | Soluble CD14 Levels in the Jackson Heart Study: Associations With Cardiovascular Disease Risk and Genetic Variants. (Stanislawski MA, Lange LA, Raffield LM, Zakai NA, Meyer M, Ferrier K, Szeto MD, Leavitt C, Shortt JA, Thornton TA, Tracy RP, Auer PL, Reiner AP, Lange EM, Olson NC) Arterioscler Thromb Vasc Biol 2021 Jun;41(6):e369-e378 8 Citations |
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| 1 | Functional measurement of mitogen-activated protein kinase pathway activation predicts responsiveness of RAS-mutant cancers to MEK inhibitors. (Kato S, Porter R, Okamura R, Lee S, Zelichov O, Tarcic G, Vidne M, Kurzrock R) Eur J Cancer 2021 May;149:184-192 4 Citations |
| 1 | Phenotyping the Spectrum of Traumatic Brain Injury: A Review and Pathway to Standardization. (Pugh MJ, Kennedy E, Prager EM, Humpherys J, Dams-O'Connor K, Hack D, McCafferty MK, Wolfe J, Yaffe K, McCrea M, Ferguson AR, Lancashire L, Ghajar J, Lumba-Brown A) J Neurotrauma 2021 Dec;38(23):3222-3234 42 Citations |
| 1 | Metabolomic profiling of pancreatic adenocarcinoma reveals key features driving clinical outcome and drug resistance. (Kaoutari AE, Fraunhoffer NA, Hoare O, Teyssedou C, Soubeyran P, Gayet O, Roques J, Lomberk G, Urrutia R, Dusetti N, Iovanna J) EBioMedicine 2021 Apr;66:103332 32 Citations |
| 1 | Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing. (Lee C, Elsekaily O, Kochan DC, Alhalabi L, Faizee F, Sharp R, Lindor NM, Kullo IJ) Genet Med 2021 Jul;23(7):1192-1201 5 Citations |
| 2 | Identification of CYP2D6 Haplotypes that Interfere with Commonly Used Assays for Copy Number Variation Characterization. (Turner AJ, Aggarwal P, Boone EC, Haidar CE, Relling MV, Derezinski AD, Broeckel U, Gaedigk A) J Mol Diagn 2021 May;23(5):577-588 11 Citations |
| 1 | Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways. (Seese SE, Deml B, Muheisen S, Sorokina E, Semina EV) Dev Dyn 2021 Aug;250(8):1056-1073 11 Citations |
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| 1 | Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel. (Ross JE, Zhang BM, Lee K, Mohan S, Branchford BR, Bray P, Dugan SN, Freson K, Heller PG, Kahr WHA, Lambert MP, Luchtman-Jones L, Luo M, Perez Botero J, Rondina MT, Ryan G, Westbury S, Bergmeier W, Di Paola J) Blood Adv 2021 Jan 26;5(2):414-431 26 Citations |
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| 1 | Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype. (Qaiser F, Yin Y, Mervis CB, Morris CA, Klein-Tasman BP, Tam E, Osborne LR, Yuen RKC) Orphanet J Rare Dis 2021 Jan 06;16(1):6 7 Citations |
| 2 | Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia. (Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM, University of Washington Center for Mendelian Genomics, Semina EV) Clin Genet 2021 Mar;99(3):437-442 12 Citations |
| 1 | Risk Factors for Polyvascular Involvement in Patients With Peripheral Artery Disease: A Mendelian Randomization Study. (Dikilitas O, Satterfield BA, Kullo IJ) J Am Heart Assoc 2020 Dec 15;9(24):e017740 20 Citations |
| 1 | BAP1-Mutated Clear Cell Renal Cell Carcinoma. (Gallan AJ, Parilla M, Segal J, Ritterhouse L, Antic T) Am J Clin Pathol 2021 Apr 26;155(5):718-728 45 Citations |
| 1 | Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia. (Salas-Huetos A, Tüttelmann F, Wyrwoll MJ, Kliesch S, Lopes AM, Goncalves J, Boyden SE, Wöste M, Hotaling JM, GEMINI Consortium, Nagirnaja L, Conrad DF, Carrell DT, Aston KI) Hum Genet 2021 Jan;140(1):217-227 37 Citations |
| 1 | Different Human Immune Lineage Compositions Are Generated in Non-Conditioned NBSGW Mice Depending on HSPC Source. (Hess NJ, Lindner PN, Vazquez J, Grindel S, Hudson AW, Stanic AK, Ikeda A, Hematti P, Gumperz JE) Front Immunol 2020;11:573406 27 Citations |
| 1 | Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder. (Brunet T, McWalter K, Mayerhanser K, Anbouba GM, Armstrong-Javors A, Bader I, Baugh E, Begtrup A, Bupp CP, Callewaert BL, Cereda A, Cousin MA, Del Rey Jimenez JC, Demmer L, Dsouza NR, Fleischer N, Gavrilova RH, Ghate S, Graf E, Green A, Green SR, Iascone M, Kdissa A, Klee D, Klee EW, Lancaster E, Lindstrom K, Mayr JA, McEntagart M, Meeks NJL, Mittag D, Moore H, Olsen AK, Ortiz D, Parsons G, Pena LDM, Person RE, Punj S, Ramos-Rivera GA, Sacoto MJG, Bradley Schaefer G, Schnur RE, Scott TM, Scott DA, Serbinski CR, Shashi V, Siu VM, Stadheim BF, Sullivan JA, Švantnerová J, Velsher L, Wargowski DS, Wentzensen IM, Wieczorek D, Winkelmann J, Yap P, Zech M, Zimmermann MT, Meitinger T, Distelmaier F, Wagner M) Genet Med 2021 Feb;23(2):384-395 11 Citations |
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| 1 | rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy. (Ross JA, Tasfaout H, Levy Y, Morgan J, Cowling BS, Laporte J, Zanoteli E, Romero NB, Lowe DA, Jungbluth H, Lawlor MW, Mack DL, Ochala J) Acta Neuropathol Commun 2020 Oct 19;8(1):167 16 Citations |
| 1 | Inherited causes of clonal haematopoiesis in 97,691 whole genomes. (Bick AG, Weinstock JS, Nandakumar SK, Fulco CP, Bao EL, Zekavat SM, Szeto MD, Liao X, Leventhal MJ, Nasser J, Chang K, Laurie C, Burugula BB, Gibson CJ, Lin AE, Taub MA, Aguet F, Ardlie K, Mitchell BD, Barnes KC, Moscati A, Fornage M, Redline S, Psaty BM, Silverman EK, Weiss ST, Palmer ND, Vasan RS, Burchard EG, Kardia SLR, He J, Kaplan RC, Smith NL, Arnett DK, Schwartz DA, Correa A, de Andrade M, Guo X, Konkle BA, Custer B, Peralta JM, Gui H, Meyers DA, McGarvey ST, Chen IY, Shoemaker MB, Peyser PA, Broome JG, Gogarten SM, Wang FF, Wong Q, Montasser ME, Daya M, Kenny EE, North KE, Launer LJ, Cade BE, Bis JC, Cho MH, Lasky-Su J, Bowden DW, Cupples LA, Mak ACY, Becker LC, Smith JA, Kelly TN, Aslibekyan S, Heckbert SR, Tiwari HK, Yang IV, Heit JA, Lubitz SA, Johnsen JM, Curran JE, Wenzel SE, Weeks DE, Rao DC, Darbar D, Moon JY, Tracy RP, Buth EJ, Rafaels N, Loos RJF, Durda P, Liu Y, Hou L, Lee J, Kachroo P, Freedman BI, Levy D, Bielak LF, Hixson JE, Floyd JS, Whitsel EA, Ellinor PT, Irvin MR, Fingerlin TE, Raffield LM, Armasu SM, Wheeler MM, Sabino EC, Blangero J, Williams LK, Levy BD, Sheu WH, Roden DM, Boerwinkle E, Manson JE, Mathias RA, Desai P, Taylor KD, Johnson AD, NHLBI Trans-Omics for Precision Medicine Consortium, Auer PL, Kooperberg C, Laurie CC, Blackwell TW, Smith AV, Zhao H, Lange E, Lange L, Rich SS, Rotter JI, Wilson JG, Scheet P, Kitzman JO, Lander ES, Engreitz JM, Ebert BL, Reiner AP, Jaiswal S, Abecasis G, Sankaran VG, Kathiresan S, Natarajan P) Nature 2020 Oct;586(7831):763-768 504 Citations |
| 1 | Morphological correlation of urinary bladder cancer molecular subtypes in radical cystectomies. (Han L, Gallan AJ, Steinberg GD, Sweis RF, Paner GP) Hum Pathol 2020 Dec;106:54-61 7 Citations |
| 1 | Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. (McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ) Hum Mutat 2020 Dec;41(12):2028-2057 121 Citations |
| 1 | Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. (Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, Kähönen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtimäki T, Lerch MM, Linneberg A, Liu Y, Lyytikäinen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, Völker U, Völzke H, Watkins NA, Zonderman AB, VA Million Veteran Program, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G) Cell 2020 Sep 03;182(5):1198-1213.e14 428 Citations |
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| 4 | Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. (Čierny M, Hooshmand SI, Fee D, Tripathi S, Dsouza NR, La Pean Kirschner A, Zimmermann MT, Brennan R) Parkinsonism Relat Disord 2020 Aug;77:110-113 10 Citations |
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| 1 | A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype. (Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM) Haematologica 2021 Apr 01;106(4):1188-1192 3 Citations |
| 1 | Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis. (Blincoe A, Heeg M, Campbell PK, Hines M, Khojah A, Klein-Gitelman M, Talano JA, Speckmann C, Touzot F, Lankester A, Legger GE, Rivière JG, Garcia-Prat M, Alonso L, Putti MC, Lehmberg K, Maier S, El Chazli Y, Elmaksoud MA, Astigarraga I, Kurjane N, Bulina I, Kenina V, Bryceson Y, Rascon J, Lortie A, Goldstein G, Booth C, Worth A, Wassmer E, Schmitt EG, Warren JT, Bednarski JJ, Ali S, Chiang KY, Krueger J, Henry MM, Holland SM, Marsh RA, Ehl S, Haddad E) J Clin Immunol 2020 Aug;40(6):901-916 62 Citations |
| 1 | Astrocytes influence medulloblastoma phenotypes and CD133 surface expression. (Gronseth E, Gupta A, Koceja C, Kumar S, Kutty RG, Rarick K, Wang L, Ramchandran R) PLoS One 2020;15(7):e0235852 15 Citations |
| 1 | In vivo enrichment of genetically manipulated platelets for murine hemophilia B gene therapy. (Chen Y, Schroeder JA, Gao C, Li J, Hu J, Shi Q) J Cell Physiol 2021 Jan;236(1):354-365 9 Citations |
| 1 | Dynamic Characterization of Structural, Molecular, and Electrophysiological Phenotypes of Human-Induced Pluripotent Stem Cell-Derived Cerebral Organoids, and Comparison with Fetal and Adult Gene Profiles. (Logan S, Arzua T, Yan Y, Jiang C, Liu X, Yu LK, Liu QS, Bai X) Cells 2020 May 23;9(5) 38 Citations |
| 2 | Core Hippo pathway components act as a brake on Yap and Taz in the development and maintenance of the biliary network. (Brandt ZJ, Echert AE, Bostrom JR, North PN, Link BA) Development 2020 Jun 22;147(12) 8 Citations |
| 1 | Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome. (Strand S, Strasburger JF, Cuneo BF, Wakai RT) Circ Arrhythm Electrophysiol 2020 May;13(5):e008082 38 Citations |
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| 1 | The metabolome as a link in the genotype-phenotype map for peroxide resistance in the fruit fly, Drosophila melanogaster. (Harrison BR, Wang L, Gajda E, Hoffman EV, Chung BY, Pletcher SD, Raftery D, Promislow DEL) BMC Genomics 2020 May 04;21(1):341 19 Citations |
| 1 | Palatopharyngoplasty and Palatal Anatomy and Phenotypes for Treatment of Sleep Apnea in the Twenty-first Century. (Puccia R, Woodson BT) Otolaryngol Clin North Am 2020 Jun;53(3):421-429 13 Citations |
| 1 | Photoreceptor Structure in GNAT2-Associated Achromatopsia. (Georgiou M, Singh N, Kane T, Robson AG, Kalitzeos A, Hirji N, Webster AR, Dubra A, Carroll J, Michaelides M) Invest Ophthalmol Vis Sci 2020 Mar 09;61(3):40 34 Citations |
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| 1 | North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease. (Kelsen JR, Sullivan KE, Rabizadeh S, Singh N, Snapper S, Elkadri A, Grossman AB) J Pediatr Gastroenterol Nutr 2020 Mar;70(3):389-403 113 Citations |
| 1 | Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. (Crowley E, Warner N, Pan J, Khalouei S, Elkadri A, Fiedler K, Foong J, Turinsky AL, Bronte-Tinkew D, Zhang S, Hu J, Tian D, Li D, Horowitz J, Siddiqui I, Upton J, Roifman CM, Church PC, Wall DA, Ramani AK, Kotlarz D, Klein C, Uhlig H, Snapper SB, Gonzaga-Jauregui C, Paterson AD, McGovern DPB, Brudno M, Walters TD, Griffiths AM, Muise AM) Gastroenterology 2020 Jun;158(8):2208-2220 108 Citations |
| 2 | Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. (Tvina A, Thomsen A, Palatnik A) Eur J Med Genet 2020 Jun;63(6):103881 11 Citations |
| 1 | Cyp1 Inhibition Prevents Doxorubicin-Induced Cardiomyopathy in a Zebrafish Heart-Failure Model. (Lam PY, Kutchukian P, Anand R, Imbriglio J, Andrews C, Padilla H, Vohra A, Lane S, Parker DL Jr, Cornella Taracido I, Johns DG, Beerens M, MacRae CA, Caldwell JP, Sorota S, Asnani A, Peterson RT) Chembiochem 2020 Jul 01;21(13):1905-1910 23 Citations |
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| 1 | Dysmorphology in a Genomic Era. (Basel D) Clin Perinatol 2020 Mar;47(1):15-23 4 Citations |
| 1 | GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. (Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Undiagnosed Diseases Network, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM) Genet Med 2020 May;22(5):878-888 26 Citations |
| 2 | The severe spontaneous bleeding phenotype in a novel hemophilia A rat model is rescued by platelet FVIII expression. (Shi Q, Mattson JG, Fahs SA, Geurts AM, Weiler H, Montgomery RR) Blood Adv 2020 Jan 14;4(1):55-65 12 Citations |
| 1 | Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. (Machol K, Hadley TD, Schmidt J, Cuthbertson D, Traboulsi H, Silva RC, Citron C, Khan S, Citron K, Carter E, Brookler K, Shapiro JR, Steiner RD, Byers PH, Glorieux FH, Durigova M, Smith P, Bober MB, Sutton VR, Lee BH, Members of the BBD Consortium, Nagamani SCS, Raggio C) Am J Med Genet A 2020 Apr;182(4):697-704 25 Citations |
| 1 | A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism. (Rasmussen SA, Daenzer JMI, MacWilliams JA, Head ST, Williams MB, Geurts AM, Schroeder JP, Weinshenker D, Fridovich-Keil JL) J Inherit Metab Dis 2020 May;43(3):518-528 15 Citations |
| 2 | Epigenetic Modifications in T Cells: The Role of DNA Methylation in Salt-Sensitive Hypertension. (Dasinger JH, Alsheikh AJ, Abais-Battad JM, Pan X, Fehrenbach DJ, Lund H, Roberts ML, Cowley AW Jr, Kidambi S, Kotchen TA, Liu P, Liang M, Mattson DL) Hypertension 2020 Feb;75(2):372-382 32 Citations |
| 1 | Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes. (Battaglia M, Ahmed S, Anderson MS, Atkinson MA, Becker D, Bingley PJ, Bosi E, Brusko TM, DiMeglio LA, Evans-Molina C, Gitelman SE, Greenbaum CJ, Gottlieb PA, Herold KC, Hessner MJ, Knip M, Jacobsen L, Krischer JP, Long SA, Lundgren M, McKinney EF, Morgan NG, Oram RA, Pastinen T, Peters MC, Petrelli A, Qian X, Redondo MJ, Roep BO, Schatz D, Skibinski D, Peakman M) Diabetes Care 2020 Jan;43(1):5-12 279 Citations |
| 1 | Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases. (Mansilla MA, Sompallae RR, Nishimura CJ, Kwitek AE, Kimble MJ, Freese ME, Campbell CA, Smith RJ, Thomas CP) Nephrol Dial Transplant 2021 Jan 25;36(2):295-305 40 Citations |
| 5 | The Year of the Rat: The Rat Genome Database at 20: a multi-species knowledgebase and analysis platform. (Smith JR, Hayman GT, Wang SJ, Laulederkind SJF, Hoffman MJ, Kaldunski ML, Tutaj M, Thota J, Nalabolu HS, Ellanki SLR, Tutaj MA, De Pons JL, Kwitek AE, Dwinell MR, Shimoyama ME) Nucleic Acids Res 2020 Jan 08;48(D1):D731-D742 119 Citations |
| 1 | Novel biallelic variants in MSTO1 associated with mitochondrial myopathy. (Schultz-Rogers L, Ferrer A, Dsouza NR, Zimmermann MT, Smith BE, Klee EW, Dhamija R) Cold Spring Harb Mol Case Stud 2019 Dec;5(6) 7 Citations |
| 1 | Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. (Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM) Hum Mutat 2020 Jan;41(1):299-315 108 Citations |
| 1 | Molecular and Genetic Markers in Appendiceal Mucinous Tumors: A Systematic Review. (Stein A, Strong E, Clark Gamblin T, Clarke C, Tsai S, Thomas J, George B, Mogal H) Ann Surg Oncol 2020 Jan;27(1):85-97 29 Citations |
| 1 | Prediction and management of CAD risk based on genetic stratification. (Roberts R, Campillo A, Schmitt M) Trends Cardiovasc Med 2020 Aug;30(6):328-334 18 Citations |
| 1 | Fatty Acid-Treated Induced Pluripotent Stem Cell-Derived Human Cardiomyocytes Exhibit Adult Cardiomyocyte-Like Energy Metabolism Phenotypes. (Horikoshi Y, Yan Y, Terashvili M, Wells C, Horikoshi H, Fujita S, Bosnjak ZJ, Bai X) Cells 2019 Sep 17;8(9) 131 Citations |
| 1 | Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models. (Olson RJ, Hopp K, Wells H, Smith JM, Furtado J, Constans MM, Escobar DL, Geurts AM, Torres VE, Harris PC) J Am Soc Nephrol 2019 Nov;30(11):2113-2127 41 Citations |
| 1 | Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models. (Kopp N, McCullough K, Maloney SE, Dougherty JD) Hum Mol Genet 2019 Oct 15;28(20):3443-3465 16 Citations |
| 2 | Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. (Hoshitsuki K, Crews KR, Yang W, Smith CA, Hankins JS, Turner AJ, Broeckel U, McMillin GA, Relling MV, Haidar CE) Genet Med 2020 Jan;22(1):232-233 9 Citations |
| 1 | Neogenin-loss in neural crest cells results in persistent hyperplastic primary vitreous formation. (Lin S, Liu W, Chen CL, Sun D, Hu JX, Li L, Ye J, Mei L, Xiong WC) J Mol Cell Biol 2020 Jan 22;12(1):17-31 13 Citations |
| 1 | Global transcriptome and gene co-expression network analyses on the development of distyly in Primula oreodoxa. (Zhao Z, Luo Z, Yuan S, Mei L, Zhang D) Heredity (Edinb) 2019 Dec;123(6):784-794 17 Citations |
| 1 | Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. (Li M, Mei L, He C, Chen H, Cai X, Liu Y, Tian R, Tian Q, Song J, Jiang L, Liu C, Wu H, Li T, Liu J, Li X, Yi Y, Yan D, Blanton SH, Hu Z, Liu X, Li J, Ling J, Feng Y) Genet Med 2019 Dec;21(12):2744-2754 28 Citations |
| 1 | Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification. (Gupta A, Zimmermann MT, Wang H, Broski SM, Sigafoos AN, Macklin SK, Urrutia RA, Clark KJ, Atwal PS, Pignolo RJ, Klee EW) Am J Med Genet A 2019 Sep;179(9):1764-1777 13 Citations |
| 1 | Genetic testing and cascade screening in pediatric long QT syndrome and hypertrophic cardiomyopathy. (Knight LM, Miller E, Kovach J, Arscott P, von Alvensleben JC, Bradley D, Valdes SO, Ware SM, Meyers L, Travers CD, Campbell RM, Etheridge SP) Heart Rhythm 2020 Jan;17(1):106-112 25 Citations |
| 1 | Genomic Alterations in Undifferentiated Malignant Tumors with Rhabdoid Phenotype and Loss of BRG1 Immunoexpression Identified by Fine Needle Aspirates. (Mei L, Alikhan M, Mujacic I, Parilla M, Antic T) Acta Cytol 2019;63(5):438-444 5 Citations |
| 4 | Rat Genome Databases, Repositories, and Tools. (Laulederkind SJF, Hayman GT, Wang SJ, Hoffman MJ, Smith JR, Bolton ER, De Pons J, Tutaj MA, Tutaj M, Thota J, Dwinell MR, Shimoyama M) Methods Mol Biol 2019;2018:71-96 16 Citations |
| 1 | Three year experience of a clinical cardiovascular genetics program for infants with congenital heart disease. (Geddes GC, Syverson E, Earing MG) Congenit Heart Dis 2019 Sep;14(5):832-837 9 Citations |
| 1 | RASA1-dependent cellular export of collagen IV controls blood and lymphatic vascular development. (Chen D, Teng JM, North PE, Lapinski PE, King PD) J Clin Invest 2019 Jun 11;129(9):3545-3561 49 Citations |
| 1 | Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. (Spracklen CN, Karaderi T, Yaghootkar H, Schurmann C, Fine RS, Kutalik Z, Preuss MH, Lu Y, Wittemans LBL, Adair LS, Allison M, Amin N, Auer PL, Bartz TM, Blüher M, Boehnke M, Borja JB, Bork-Jensen J, Broer L, Chasman DI, Chen YI, Chirstofidou P, Demirkan A, van Duijn CM, Feitosa MF, Garcia ME, Graff M, Grallert H, Grarup N, Guo X, Haesser J, Hansen T, Harris TB, Highland HM, Hong J, Ikram MA, Ingelsson E, Jackson R, Jousilahti P, Kähönen M, Kizer JR, Kovacs P, Kriebel J, Laakso M, Lange LA, Lehtimäki T, Li J, Li-Gao R, Lind L, Luan J, Lyytikäinen LP, MacGregor S, Mackey DA, Mahajan A, Mangino M, Männistö S, McCarthy MI, McKnight B, Medina-Gomez C, Meigs JB, Molnos S, Mook-Kanamori D, Morris AP, de Mutsert R, Nalls MA, Nedeljkovic I, North KE, Pennell CE, Pradhan AD, Province MA, Raitakari OT, Raulerson CK, Reiner AP, Ridker PM, Ripatti S, Roberston N, Rotter JI, Salomaa V, Sandoval-Zárate AA, Sitlani CM, Spector TD, Strauch K, Stumvoll M, Taylor KD, Thuesen B, Tönjes A, Uitterlinden AG, Venturini C, Walker M, Wang CA, Wang S, Wareham NJ, Willems SM, Willems van Dijk K, Wilson JG, Wu Y, Yao J, Young KL, Langenberg C, Frayling TM, Kilpeläinen TO, Lindgren CM, Loos RJF, Mohlke KL) Am J Hum Genet 2019 Jul 03;105(1):15-28 20 Citations |
| 1 | Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF). (Liu W, Sha Y, Li Y, Mei L, Lin S, Huang X, Lu J, Ding L, Kong S, Lu Z) J Med Genet 2019 Oct;56(10):678-684 67 Citations |
| 1 | Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. (Monies D, Abouelhoda M, Assoum M, Moghrabi N, Rafiullah R, Almontashiri N, Alowain M, Alzaidan H, Alsayed M, Subhani S, Cupler E, Faden M, Alhashem A, Qari A, Chedrawi A, Aldhalaan H, Kurdi W, Khan S, Rahbeeni Z, Alotaibi M, Goljan E, Elbardisy H, ElKalioby M, Shah Z, Alruwaili H, Jaafar A, Albar R, Akilan A, Tayeb H, Tahir A, Fawzy M, Nasr M, Makki S, Alfaifi A, Akleh H, Yamani S, Bubshait D, Mahnashi M, Basha T, Alsagheir A, Abu Khaled M, Alsaleem K, Almugbel M, Badawi M, Bashiri F, Bohlega S, Sulaiman R, Tous E, Ahmed S, Algoufi T, Al-Mousa H, Alaki E, Alhumaidi S, Alghamdi H, Alghamdi M, Sahly A, Nahrir S, Al-Ahmari A, Alkuraya H, Almehaidib A, Abanemai M, Alsohaibaini F, Alsaud B, Arnaout R, Abdel-Salam GMH, Aldhekri H, AlKhater S, Alqadi K, Alsabban E, Alshareef T, Awartani K, Banjar H, Alsahan N, Abosoudah I, Alashwal A, Aldekhail W, Alhajjar S, Al-Mayouf S, Alsemari A, Alshuaibi W, Altala S, Altalhi A, Baz S, Hamad M, Abalkhail T, Alenazi B, Alkaff A, Almohareb F, Al Mutairi F, Alsaleh M, Alsonbul A, Alzelaye S, Bahzad S, Manee AB, Jarrad O, Meriki N, Albeirouti B, Alqasmi A, AlBalwi M, Makhseed N, Hassan S, Salih I, Salih MA, Shaheen M, Sermin S, Shahrukh S, Hashmi S, Shawli A, Tajuddin A, Tamim A, Alnahari A, Ghemlas I, Hussein M, Wali S, Murad H, Meyer BF, Alkuraya FS) Am J Hum Genet 2019 Jun 06;104(6):1182-1201 198 Citations |
| 1 | Titrating Gene Function in the Human Fungal Pathogen Candida albicans through Poly-Adenosine Tract Insertion. (Tournu H, Butts A, Palmer GE) mSphere 2019 May 22;4(3) 5 Citations |
| 2 | Temporal lobe epilepsy is associated with distinct cognitive phenotypes. (Elverman KH, Resch ZJ, Quasney EE, Sabsevitz DS, Binder JR, Swanson SJ) Epilepsy Behav 2019 Jul;96:61-68 53 Citations |
| 1 | Targeted Sequencing Study to Uncover Shared Genetic Susceptibility Between Peripheral Artery Disease and Coronary Heart Disease-Brief Report. (Safarova MS, Fan X, Austin EE, van Zuydam N, Hopewell J, Schaid DJ, Kullo IJ) Arterioscler Thromb Vasc Biol 2019 Jun;39(6):1227-1233 11 Citations |
| 1 | Phenotypic and Genomic Determinants of Immunotherapy Response Associated with Squamousness. (Goodman AM, Kato S, Chattopadhyay R, Okamura R, Saunders IM, Montesion M, Frampton GM, Miller VA, Daniels GA, Kurzrock R) Cancer Immunol Res 2019 Jun;7(6):866-873 22 Citations |
| 1 | Thioredoxin-1 improves the immunometabolic phenotype of antitumor T cells. (Chakraborty P, Chatterjee S, Kesarwani P, Thyagarajan K, Iamsawat S, Dalheim A, Nguyen H, Selvam SP, Nasarre P, Scurti G, Hardiman G, Maulik N, Ball L, Gangaraju V, Rubinstein MP, Klauber-DeMore N, Hill EG, Ogretmen B, Yu XZ, Nishimura MI, Mehrotra S) J Biol Chem 2019 Jun 07;294(23):9198-9212 35 Citations |
| 2 | Quantitative phenotype analysis to identify, validate and compare rat disease models. (Zhao Y, Smith JR, Wang SJ, Dwinell MR, Shimoyama M) Database (Oxford) 2019 Jan 01;2019 3 Citations |
| 2 | Comparison of the Effects of High-Fat Diet on Energy Flux in Mice Using Two Multiplexed Metabolic Phenotyping Systems. (Soto JE, Burnett CML, Ten Eyck P, Abel ED, Grobe JL) Obesity (Silver Spring) 2019 May;27(5):793-802 27 Citations |
| 2 | Mobility in osteogenesis imperfecta: a multicenter North American study. (Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF) Genet Med 2019 Oct;21(10):2311-2318 23 Citations |
| 4 | Integrated curation and data mining for disease and phenotype models at the Rat Genome Database. (Wang SJ, Laulederkind SJF, Zhao Y, Hayman GT, Smith JR, Tutaj M, Thota J, Tutaj MA, Hoffman MJ, Bolton ER, De Pons J, Dwinell MR, Shimoyama M) Database (Oxford) 2019 Jan 01;2019 2 Citations |
| 1 | Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. (de Vries PS, Brown MR, Bentley AR, Sung YJ, Winkler TW, Ntalla I, Schwander K, Kraja AT, Guo X, Franceschini N, Cheng CY, Sim X, Vojinovic D, Huffman JE, Musani SK, Li C, Feitosa MF, Richard MA, Noordam R, Aschard H, Bartz TM, Bielak LF, Deng X, Dorajoo R, Lohman KK, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Evangelou E, Graff M, Alver M, Boissel M, Chai JF, Chen X, Divers J, Gandin I, Gao C, Goel A, Hagemeijer Y, Harris SE, Hartwig FP, He M, Horimoto ARVR, Hsu FC, Jackson AU, Kasturiratne A, Komulainen P, Kühnel B, Laguzzi F, Lee JH, Luan J, Lyytikäinen LP, Matoba N, Nolte IM, Pietzner M, Riaz M, Said MA, Scott RA, Sofer T, Stančáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Wang Y, Ware EB, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Amin N, Amini M, Arking DE, Aung T, Ballantyne C, Boerwinkle E, Broeckel U, Campbell A, Canouil M, Charumathi S, Chen YI, Connell JM, de Faire U, de las Fuentes L, de Mutsert R, de Silva HJ, Ding J, Dominiczak AF, Duan Q, Eaton CB, Eppinga RN, Faul JD, Fisher V, Forrester T, Franco OH, Friedlander Y, Ghanbari M, Giulianini F, Grabe HJ, Grove ML, Gu CC, Harris TB, Heikkinen S, Heng CK, Hirata M, Hixson JE, Howard BV, Ikram MA, InterAct Consortium, Jacobs DR, Johnson C, Jonas JB, Kammerer CM, Katsuya T, Khor CC, Kilpeläinen TO, Koh WP, Koistinen HA, Kolcic I, Kooperberg C, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lemaitre RN, Li Y, Liang J, Liu J, Liu K, Loh M, Louie T, Mägi R, Manichaikul AW, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Mosley TH, Mukamal KJ, Nalls MA, Nauck M, Nelson CP, Sotoodehnia N, O'Connell JR, Palmer ND, Pazoki R, Pedersen NL, Peters A, Peyser PA, Polasek O, Poulter N, Raffel LJ, Raitakari OT, Reiner AP, Rice TK, Rich SS, Robino A, Robinson JG, Rose LM, Rudan I, Schmidt CO, Schreiner PJ, Scott WR, Sever P, Shi Y, Sidney S, Sims M, Smith BH, Smith JA, Snieder H, Starr JM, Strauch K, Tan N, Taylor KD, Teo YY, Tham YC, Uitterlinden AG, van Heemst D, Vuckovic D, Waldenberger M, Wang L, Wang Y, Wang Z, Wei WB, Williams C, Wilson G, Wojczynski MK, Yao J, Yu B, Yu C, Yuan JM, Zhao W, Zonderman AB, Becker DM, Boehnke M, Bowden DW, Chambers JC, Deary IJ, Esko T, Farrall M, Franks PW, Freedman BI, Froguel P, Gasparini P, Gieger C, Horta BL, Kamatani Y, Kato N, Kooner JS, Laakso M, Leander K, Lehtimäki T, Lifelines Cohort, Groningen, The Netherlands (Lifelines Cohort Study), Magnusson PKE, Penninx B, Pereira AC, Rauramaa R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wang YX, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Zheng W, Elliott P, North KE, Bouchard C, Evans MK, Gudnason V, Liu CT, Liu Y, Psaty BM, Ridker PM, van Dam RM, Kardia SLR, Zhu X, Rotimi CN, Mook-Kanamori DO, Fornage M, Kelly TN, Fox ER, Hayward C, van Duijn CM, Tai ES, Wong TY, Liu J, Rotter JI, Gauderman WJ, Province MA, Munroe PB, Rice K, Chasman DI, Cupples LA, Rao DC, Morrison AC) Am J Epidemiol 2019 Jun 01;188(6):1033-1054 76 Citations |
| 1 | Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. (Muriello M, Kim AY, Sondergaard Schatz K, Beck N, Gunay-Aygun M, Hoover-Fong JE) Am J Med Genet A 2019 Mar;179(3):410-416 8 Citations |
| 1 | Neurosarcoidosis in a public safety net hospital: a study of 82 cases. (Dorman J, Warrior L, Pandya V, Sun Y, Ninan J, Trick W, Zhang H, Ouyang B) Sarcoidosis Vasc Diffuse Lung Dis 2019;36(1):25-32 |
| 2 | Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome. (Zwifelhofer NMJ, Bercovitz RS, Weik LA, Moroi A, LaRose S, Newman PJ, Newman DK) J Thromb Haemost 2019 Feb;17(2):295-305 11 Citations |
| 1 | De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. (Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, Chung D, Warner BW, Mychaliska GB, Potoka D, Wagner AJ, ElFiky M, Wilson JM, Nickerson D, Bamshad M, High FA, Longoni M, Donahoe PK, Chung WK, Shen Y) PLoS Genet 2018 Dec;14(12):e1007822 87 Citations |
| 2 | DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. (Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP) Am J Hum Genet 2018 Dec 06;103(6):1038-1044 79 Citations |
| 1 | Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. (Lalor L, Titeux M, Palisson F, Fuentes I, Yubero MJ, Tasanen K, Huilaja L, Has C, Tadini G, Haggstrom AN, Hovnanian A, Lucky AW) Pediatr Dermatol 2019 Jan;36(1):132-138 14 Citations |
| 1 | Association of obesity phenotypes with electrocardiographic left ventricular hypertrophy in the general population. (Ahmad MI, Li Y, Soliman EZ) J Electrocardiol 2018;51(6):1125-1130 5 Citations |
| 1 | Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. (Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN) Nucleic Acids Res 2019 Jan 08;47(D1):D1018-D1027 509 Citations |
| 1 | The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results. (Kullo IJ, Olson J, Fan X, Jose M, Safarova M, Radecki Breitkopf C, Winkler E, Kochan DC, Snipes S, Pacyna JE, Carney M, Chute CG, Gupta J, Jose S, Venner E, Murugan M, Jiang Y, Zordok M, Farwati M, Philogene M, Smith E, Shaibi GQ, Caraballo P, Freimuth R, Lindor NM, Sharp R, Thibodeau SN) Mayo Clin Proc 2018 Nov;93(11):1600-1610 32 Citations |
| 1 | Chronic p27Kip1 Induction by Dexamethasone Causes Senescence Phenotype and Permanent Cell Cycle Blockade in Lung Adenocarcinoma Cells Over-expressing Glucocorticoid Receptor. (Patki M, McFall T, Rosati R, Huang Y, Malysa A, Polin L, Fielder A, Wilson MR, Lonardo F, Back J, Li J, Matherly LH, Bepler G, Ratnam M) Sci Rep 2018 Oct 30;8(1):16006 11 Citations |
| 1 | Using Patient-Derived Induced Pluripotent Stem Cells to Identify Parkinson's Disease-Relevant Phenotypes. (Sison SL, Vermilyea SC, Emborg ME, Ebert AD) Curr Neurol Neurosci Rep 2018 Oct 04;18(12):84 38 Citations |
| 1 | The Effect of Early-Life Environmental Exposures on Disease Phenotype and Clinical Course of Crohn's Disease in Children. (Lindoso L, Mondal K, Venkateswaran S, Somineni HK, Ballengee C, Walters TD, Griffiths A, Noe JD, Crandall W, Snapper S, Rabizadeh S, Rosh JR, LeLeiko N, Guthery S, Mack D, Kellermayer R, Gulati AS, Pfefferkorn MD, Moulton DE, Keljo D, Cohen S, Oliva-Hemker M, Heyman MB, Otley A, Baker SS, Evans JS, Kirschner BS, Patel AS, Ziring D, Stephens MC, Baldassano R, Dubinsky MC, Markowitz J, Denson LA, Hyams J, Kugathasan S, Ananthakrishnan AN) Am J Gastroenterol 2018 Oct;113(10):1524-1529 38 Citations |
| 1 | Epigenetic Regulation Alters Biofilm Architecture and Composition in Multiple Clinical Isolates of Nontypeable Haemophilus influenzae. (Brockman KL, Azzari PN, Branstool MT, Atack JM, Schulz BL, Jen FE, Jennings MP, Bakaletz LO) mBio 2018 Sep 18;9(5) 28 Citations |
| 1 | Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations. (Patterson EJ, Kalitzeos A, Kasilian M, Gardner JC, Neitz J, Hardcastle AJ, Neitz M, Carroll J, Michaelides M) Invest Ophthalmol Vis Sci 2018 Aug 01;59(10):4238-4248 32 Citations |
| 2 | Modeling the Structure of Acute Sport-Related Concussion Symptoms: A Bifactor Approach. (Nelson LD, Kramer MD, Patrick CJ, McCrea MA) J Int Neuropsychol Soc 2018 Sep;24(8):793-804 19 Citations |
| 4 | α-Galactosidase A-deficient rats accumulate glycosphingolipids and develop cardiorenal phenotypes of Fabry disease. (Miller JJ, Aoki K, Mascari CA, Beltrame AK, Sokumbi O, North PE, Tiemeyer M, Kriegel AJ, Dahms NM) FASEB J 2019 Jan;33(1):418-429 25 Citations |
| 1 | TNNT1 nemaline myopathy: natural history and therapeutic frontier. (Fox MD, Carson VJ, Feng HZ, Lawlor MW, Gray JT, Brigatti KW, Jin JP, Strauss KA) Hum Mol Genet 2018 Sep 15;27(18):3272-3282 35 Citations |
| 1 | Inactivation of CDK12 Delineates a Distinct Immunogenic Class of Advanced Prostate Cancer. (Wu YM, Cieślik M, Lonigro RJ, Vats P, Reimers MA, Cao X, Ning Y, Wang L, Kunju LP, de Sarkar N, Heath EI, Chou J, Feng FY, Nelson PS, de Bono JS, Zou W, Montgomery B, Alva A, PCF/SU2C International Prostate Cancer Dream Team, Robinson DR, Chinnaiyan AM) Cell 2018 Jun 14;173(7):1770-1782.e14 470 Citations |
| 1 | Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency. (Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD) J Clin Invest 2018 Jul 02;128(7):3071-3087 140 Citations |
| 2 | Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect? (Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN) Cold Spring Harb Mol Case Stud 2018 Aug;4(4) 8 Citations |
| 4 | A Primer for the Rat Genome Database (RGD). (Laulederkind SJF, Hayman GT, Wang SJ, Smith JR, Petri V, Hoffman MJ, De Pons J, Tutaj MA, Ghiasvand O, Tutaj M, Thota J, Dwinell MR, Shimoyama M) Methods Mol Biol 2018;1757:163-209 11 Citations |
| 1 | Serologic Reactivity Reflects Clinical Expression of Ulcerative Colitis in Children. (Spencer EA, Davis SM, Mack DR, Boyle BM, Griffiths AM, LeLeiko NS, Sauer CG, Keljo DJ, Markowitz JF, Baker SS, Rosh JR, Baldassano RN, Oliva-Hemker M, Pfefferkorn MD, Otley AR, Heyman MB, Noe JD, Patel AS, Rufo PA, PROTECT Study Group, Alison Marquis M, Walters TD, Collins MH, Kugathasan S, Denson LA, Hyams JS, Dubinsky MC) Inflamm Bowel Dis 2018 May 18;24(6):1335-1343 17 Citations |
| 1 | Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease. (Raffield LM, Ulirsch JC, Naik RP, Lessard S, Handsaker RE, Jain D, Kang HM, Pankratz N, Auer PL, Bao EL, Smith JD, Lange LA, Lange EM, Li Y, Thornton TA, Young BA, Abecasis GR, Laurie CC, Nickerson DA, McCarroll SA, Correa A, Wilson JG, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Hematology & Hemostasis, Diabetes, and Structural Variation TOPMed Working Groups, Lettre G, Sankaran VG, Reiner AP) PLoS Genet 2018 Mar;14(3):e1007293 49 Citations |
| 1 | Glucuronylated core 1 glycans are required for precise localization of neuromuscular junctions and normal formation of basement membranes on Drosophila muscles. (Itoh K, Akimoto Y, Kondo S, Ichimiya T, Aoki K, Tiemeyer M, Nishihara S) Dev Biol 2018 Apr 15;436(2):108-124 14 Citations |
| 1 | Characterization of the pixB gene in Xenorhabdus nematophila and discovery of a new gene family. (Lucas J, Goetsch M, Fischer M, Forst S) Microbiology (Reading) 2018 Apr;164(4):495-508 2 Citations |
| 1 | Describing Phonological Paraphasias in Three Variants of Primary Progressive Aphasia. (Dalton SGH, Shultz C, Henry ML, Hillis AE, Richardson JD) Am J Speech Lang Pathol 2018 Mar 01;27(1S):336-349 24 Citations |
| 1 | CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris. (Craiglow BG, Boyden LM, Hu R, Virtanen M, Su J, Rodriguez G, McCarthy C, Luna P, Larralde M, Humphrey S, Holland KE, Hogeling M, Hidalgo-Matlock B, Ferrari B, Fernandez-Faith E, Drolet B, Cordoro KM, Bowcock AM, Antaya RJ, Ashack K, Ashack RJ, Lifton RP, Milstone LM, Paller AS, Choate KA) J Am Acad Dermatol 2018 Sep;79(3):487-494 98 Citations |
| 1 | Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease. (Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou DT, Dodd A, Quinn K, Mondal K, Aronow BJ, Haberman Y, Linn A, Price A, Bezold R, Lake K, Jackson K, Walters TD, Griffiths A, Baldassano RN, Noe JD, Hyams JS, Crandall WV, Kirschner BS, Heyman MB, Snapper S, Guthery SL, Dubinsky MC, Leleiko NS, Otley AR, Xavier RJ, Stevens C, Daly MJ, Zwick ME, Kugathasan S) Gastroenterology 2018 Jun;154(8):2097-2110 74 Citations |
| 1 | Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology. (Lovering RC, Roncaglia P, Howe DG, Laulederkind SJF, Khodiyar VK, Berardini TZ, Tweedie S, Foulger RE, Osumi-Sutherland D, Campbell NH, Huntley RP, Talmud PJ, Blake JA, Breckenridge R, Riley PR, Lambiase PD, Elliott PM, Clapp L, Tinker A, Hill DP) Circ Genom Precis Med 2018 Feb;11(2):e001813 21 Citations |
| 1 | Nanoparticle-Mediated Cell Capture Enables Rapid Endothelialization of a Novel Bare Metal Stent. (Tefft BJ, Uthamaraj S, Harbuzariu A, Harburn JJ, Witt TA, Newman B, Psaltis PJ, Hlinomaz O, Holmes DR Jr, Gulati R, Simari RD, Dragomir-Daescu D, Sandhu GS) Tissue Eng Part A 2018 Jul;24(13-14):1157-1166 19 Citations |
| 1 | Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice. (Danièle N, Moal C, Julien L, Marinello M, Jamet T, Martin S, Vignaud A, Lawlor MW, Buj-Bello A) J Neuropathol Exp Neurol 2018 Apr 01;77(4):282-295 18 Citations |
| 1 | Macrophage Transitions in Heart Valve Development and Myxomatous Valve Disease. (Hulin A, Anstine LJ, Kim AJ, Potter SJ, DeFalco T, Lincoln J, Yutzey KE) Arterioscler Thromb Vasc Biol 2018 Mar;38(3):636-644 58 Citations |
| 2 | Multicenter Evaluation of the Accelerate PhenoTest BC Kit for Rapid Identification and Phenotypic Antimicrobial Susceptibility Testing Using Morphokinetic Cellular Analysis. (Pancholi P, Carroll KC, Buchan BW, Chan RC, Dhiman N, Ford B, Granato PA, Harrington AT, Hernandez DR, Humphries RM, Jindra MR, Ledeboer NA, Miller SA, Mochon AB, Morgan MA, Patel R, Schreckenberger PC, Stamper PD, Simner PJ, Tucci NE, Zimmerman C, Wolk DM) J Clin Microbiol 2018 Apr;56(4) 144 Citations |
| 1 | Genome variation and conserved regulation identify genomic regions responsible for strain specific phenotypes in rat. (Martín-Gálvez D, Dunoyer de Segonzac D, Ma MCJ, Kwitek AE, Thybert D, Flicek P) BMC Genomics 2017 Dec 22;18(1):986 3 Citations |
| 1 | Determining Risk of Barrett's Esophagus and Esophageal Adenocarcinoma Based on Epidemiologic Factors and Genetic Variants. (Dong J, Buas MF, Gharahkhani P, Kendall BJ, Onstad L, Zhao S, Anderson LA, Wu AH, Ye W, Bird NC, Bernstein L, Chow WH, Gammon MD, Liu G, Caldas C, Pharoah PD, Risch HA, Iyer PG, Reid BJ, Hardie LJ, Lagergren J, Shaheen NJ, Corley DA, Fitzgerald RC, Stomach and Oesophageal Cancer Study (SOCS) consortium, Whiteman DC, Vaughan TL, Thrift AP) Gastroenterology 2018 Apr;154(5):1273-1281.e3 71 Citations |
| 2 | Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases. (Huang H, Gheorghe G, North PE, Suchi M) Pediatr Dev Pathol 2018;21(5):449-455 39 Citations |
| 1 | Genetic Fine-Mapping and Identification of Candidate Genes and Variants for Adiposity Traits in Outbred Rats. (Keele GR, Prokop JW, He H, Holl K, Littrell J, Deal A, Francic S, Cui L, Gatti DM, Broman KW, Tschannen M, Tsaih SW, Zagloul M, Kim Y, Baur B, Fox J, Robinson M, Levy S, Flister MJ, Mott R, Valdar W, Solberg Woods LC) Obesity (Silver Spring) 2018 Jan;26(1):213-222 52 Citations |
| 4 | Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics. (Siegel DH, Cottrell CE, Streicher JL, Schilter KF, Basel DG, Baselga E, Burrows PE, Ciliberto HM, Vigh-Conrad KA, Eichenfield LF, Holland KE, Hogeling M, Jensen JN, Kelly ME, Kim W, King DM, McCuaig C, Mueller KA, Pope E, Powell J, Price H, Steiner JE, Frieden IJ, Tollefson MM, Drolet BA) J Invest Dermatol 2018 Apr;138(4):957-967 54 Citations |
| 1 | Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. (Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH) Am J Med Genet A 2018 Jan;176(1):48-55 22 Citations |
| 1 | Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. (Yu FPS, Islam D, Sikora J, Dworski S, Gurka J, López-Vásquez L, Liu M, Kuebler WM, Levade T, Zhang H, Medin JA) Am J Physiol Lung Cell Mol Physiol 2018 Mar 01;314(3):L406-L420 30 Citations |
| 1 | Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II. (Rybová J, Ledvinová J, Sikora J, Kuchař L, Dobrovolný R) J Inherit Metab Dis 2018 Mar;41(2):221-229 20 Citations |
| 1 | Molecular Tumor Boards: Realizing Precision Oncology Therapy. (Patel M, Kato SM, Kurzrock R) Clin Pharmacol Ther 2018 Feb;103(2):206-209 23 Citations |
| 1 | Genome-wide association study identifies a novel locus for cannabis dependence. (Agrawal A, Chou YL, Carey CE, Baranger DAA, Zhang B, Sherva R, Wetherill L, Kapoor M, Wang JC, Bertelsen S, Anokhin AP, Hesselbrock V, Kramer J, Lynskey MT, Meyers JL, Nurnberger JI, Rice JP, Tischfield J, Bierut LJ, Degenhardt L, Farrer LA, Gelernter J, Hariri AR, Heath AC, Kranzler HR, Madden PAF, Martin NG, Montgomery GW, Porjesz B, Wang T, Whitfield JB, Edenberg HJ, Foroud T, Goate AM, Bogdan R, Nelson EC) Mol Psychiatry 2018 May;23(5):1293-1302 33 Citations |
| 1 | Refrigeration-Induced Binding of von Willebrand Factor Facilitates Fast Clearance of Refrigerated Platelets. (Chen W, Druzak SA, Wang Y, Josephson CD, Hoffmeister KM, Ware J, Li R) Arterioscler Thromb Vasc Biol 2017 Dec;37(12):2271-2279 46 Citations |
| 1 | High Content Screening of Mammalian Primary Cortical Neurons. (Motti D, Blackmore M, Bixby JL, Lemmon VP) Methods Mol Biol 2018;1683:293-304 1 Citation |
| 1 | Exome-wide association study of plasma lipids in >300,000 individuals. (Liu DJ, Peloso GM, Yu H, Butterworth AS, Wang X, Mahajan A, Saleheen D, Emdin C, Alam D, Alves AC, Amouyel P, Di Angelantonio E, Arveiler D, Assimes TL, Auer PL, Baber U, Ballantyne CM, Bang LE, Benn M, Bis JC, Boehnke M, Boerwinkle E, Bork-Jensen J, Bottinger EP, Brandslund I, Brown M, Busonero F, Caulfield MJ, Chambers JC, Chasman DI, Chen YE, Chen YI, Chowdhury R, Christensen C, Chu AY, Connell JM, Cucca F, Cupples LA, Damrauer SM, Davies G, Deary IJ, Dedoussis G, Denny JC, Dominiczak A, Dubé MP, Ebeling T, Eiriksdottir G, Esko T, Farmaki AE, Feitosa MF, Ferrario M, Ferrieres J, Ford I, Fornage M, Franks PW, Frayling TM, Frikke-Schmidt R, Fritsche LG, Frossard P, Fuster V, Ganesh SK, Gao W, Garcia ME, Gieger C, Giulianini F, Goodarzi MO, Grallert H, Grarup N, Groop L, Grove ML, Gudnason V, Hansen T, Harris TB, Hayward C, Hirschhorn JN, Holmen OL, Huffman J, Huo Y, Hveem K, Jabeen S, Jackson AU, Jakobsdottir J, Jarvelin MR, Jensen GB, Jørgensen ME, Jukema JW, Justesen JM, Kamstrup PR, Kanoni S, Karpe F, Kee F, Khera AV, Klarin D, Koistinen HA, Kooner JS, Kooperberg C, Kuulasmaa K, Kuusisto J, Laakso M, Lakka T, Langenberg C, Langsted A, Launer LJ, Lauritzen T, Liewald DCM, Lin LA, Linneberg A, Loos RJF, Lu Y, Lu X, Mägi R, Malarstig A, Manichaikul A, Manning AK, Mäntyselkä P, Marouli E, Masca NGD, Maschio A, Meigs JB, Melander O, Metspalu A, Morris AP, Morrison AC, Mulas A, Müller-Nurasyid M, Munroe PB, Neville MJ, Nielsen JB, Nielsen SF, Nordestgaard BG, Ordovas JM, Mehran R, O'Donnell CJ, Orho-Melander M, Molony CM, Muntendam P, Padmanabhan S, Palmer CNA, Pasko D, Patel AP, Pedersen O, Perola M, Peters A, Pisinger C, Pistis G, Polasek O, Poulter N, Psaty BM, Rader DJ, Rasheed A, Rauramaa R, Reilly DF, Reiner AP, Renström F, Rich SS, Ridker PM, Rioux JD, Robertson NR, Roden DM, Rotter JI, Rudan I, Salomaa V, Samani NJ, Sanna S, Sattar N, Schmidt EM, Scott RA, Sever P, Sevilla RS, Shaffer CM, Sim X, Sivapalaratnam S, Small KS, Smith AV, Smith BH, Somayajula S, Southam L, Spector TD, Speliotes EK, Starr JM, Stirrups KE, Stitziel N, Strauch K, Stringham HM, Surendran P, Tada H, Tall AR, Tang H, Tardif JC, Taylor KD, Trompet S, Tsao PS, Tuomilehto J, Tybjaerg-Hansen A, van Zuydam NR, Varbo A, Varga TV, Virtamo J, Waldenberger M, Wang N, Wareham NJ, Warren HR, Weeke PE, Weinstock J, Wessel J, Wilson JG, Wilson PWF, Xu M, Yaghootkar H, Young R, Zeggini E, Zhang H, Zheng NS, Zhang W, Zhang Y, Zhou W, Zhou Y, Zoledziewska M, Charge Diabetes Working Group, EPIC-InterAct Consortium, EPIC-CVD Consortium, GOLD Consortium, VA Million Veteran Program, Howson JMM, Danesh J, McCarthy MI, Cowan CA, Abecasis G, Deloukas P, Musunuru K, Willer CJ, Kathiresan S) Nat Genet 2017 Dec;49(12):1758-1766 447 Citations |
| 1 | Contribution of Extra-Cardiac Cells in Murine Heart Valves is Age-Dependent. (Anstine LJ, Horne TE, Horwitz EM, Lincoln J) J Am Heart Assoc 2017 Oct 20;6(10) 26 Citations |
| 1 | Ottogi Inhibits Wnt/β-catenin Signaling by Regulating Cell Membrane Trafficking of Frizzled8. (Kim HT, Lee MS, Jeong YM, Ro H, Kim DI, Shin YH, Kim JE, Hwang KS, Choi JH, Bahn M, Lee JJ, Lee SH, Bae YK, Lee JS, Choi JK, Kim NS, Yeo CY, Kim CH) Sci Rep 2017 Oct 16;7(1):13278 4 Citations |
| 2 | Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. (Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE, International 22q11.2 Consortium/Brain and Behavior Consortium*) Circ Cardiovasc Genet 2017 Oct;10(5):e001690 21 Citations |
| 1 | Apolipoprotein A-I Modulates Atherosclerosis Through Lymphatic Vessel-Dependent Mechanisms in Mice. (Milasan A, Jean G, Dallaire F, Tardif JC, Merhi Y, Sorci-Thomas M, Martel C) J Am Heart Assoc 2017 Sep 22;6(9) 36 Citations |
| 1 | General and specific promotion of flagellar assembly by a flagellar nucleoside diphosphate kinase. (Zhu X, Poghosyan E, Gopal R, Liu Y, Ciruelas KS, Maizy Y, Diener DR, King SM, Ishikawa T, Yang P) Mol Biol Cell 2017 Nov 01;28(22):3029-3042 9 Citations |
| 1 | Patient- and Cell Type-Specific Heterogeneity of Metformin Response. (Asiedu MK, Barron M, Aubry MC, Wigle DA) Basic Clin Pharmacol Toxicol 2018 Feb;122(2):214-222 14 Citations |
| 1 | Immune tolerance induced by platelet-targeted factor VIII gene therapy in hemophilia A mice is CD4 T cell mediated. (Chen Y, Luo X, Schroeder JA, Chen J, Baumgartner CK, Hu J, Shi Q) J Thromb Haemost 2017 Oct;15(10):1994-2004 30 Citations |
| 2 | Contribution of independent and pleiotropic genetic effects in the metabolic syndrome in a hypertensive rat. (Ma MCJ, Pettus JM, Jakoubek JA, Traxler MG, Clark KC, Mennie AK, Kwitek AE) PLoS One 2017;12(8):e0182650 7 Citations |
| 1 | Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature. (Haugh AM, Njauw CN, Bubley JA, Verzì AE, Zhang B, Kudalkar E, VandenBoom T, Walton K, Swick BL, Kumar R, Rana HQ, Cochrane S, McCormick SR, Shea CR, Tsao H, Gerami P) JAMA Dermatol 2017 Oct 01;153(10):999-1006 91 Citations |
| 1 | Rare coding variants pinpoint genes that control human hematological traits. (Mousas A, Ntritsos G, Chen MH, Song C, Huffman JE, Tzoulaki I, Elliott P, Psaty BM, Blood-Cell Consortium, Auer PL, Johnson AD, Evangelou E, Lettre G, Reiner AP) PLoS Genet 2017 Aug;13(8):e1006925 37 Citations |
| 1 | A Potential Role for the NOD1 Variant (rs6958571) in Gram-Positive Blood Stream Infection in ELBW Infants. (Sampath V, Mulrooney N, Patel AL, Cohen J, Zhang L, Garland J, Lavoie PM, Dagle J, Simpson P) Neonatology 2017;112(4):354-358 8 Citations |
| 1 | Recellularization of a novel off-the-shelf valve following xenogenic implantation into the right ventricular outflow tract. (Hennessy RS, Go JL, Hennessy RR, Tefft BJ, Jana S, Stoyles NJ, Al-Hijji MA, Thaden JJ, Pislaru SV, Simari RD, Stulak JM, Young MD, Lerman A) PLoS One 2017;12(8):e0181614 35 Citations |
| 2 | Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree. (Hendee K, Wang LW, Reis LM, Rice GM, Apte SS, Semina EV) Hum Mutat 2017 Nov;38(11):1485-1490 32 Citations |
| 1 | Text mining applied to electronic cardiovascular procedure reports to identify patients with trileaflet aortic stenosis and coronary artery disease. (Small AM, Kiss DH, Zlatsin Y, Birtwell DL, Williams H, Guerraty MA, Han Y, Anwaruddin S, Holmes JH, Chirinos JA, Wilensky RL, Giri J, Rader DJ) J Biomed Inform 2017 Aug;72:77-84 22 Citations |
| 7 | Host genetic modifiers of nonproductive angiogenesis inhibit breast cancer. (Flister MJ, Tsaih SW, Stoddard A, Plasterer C, Jagtap J, Parchur AK, Sharma G, Prisco AR, Lemke A, Murphy D, Al-Gizawiy M, Straza M, Ran S, Geurts AM, Dwinell MR, Greene AS, Bergom C, LaViolette PS, Joshi A) Breast Cancer Res Treat 2017 Aug;165(1):53-64 15 Citations |
| 1 | Clinical and laboratory phenotype variability in type 2M von Willebrand disease. (Doruelo AL, Haberichter SL, Christopherson PA, Boggio LN, Gupta S, Lentz SR, Shapiro AD, Montgomery RR, Flood VH) J Thromb Haemost 2017 Aug;15(8):1559-1566 19 Citations |
| 1 | Discovery of Stromal Regulatory Networks that Suppress Ras-Sensitized Epithelial Cell Proliferation. (Liu H, Dowdle JA, Khurshid S, Sullivan NJ, Bertos N, Rambani K, Mair M, Daniel P, Wheeler E, Tang X, Toth K, Lause M, Harrigan ME, Eiring K, Sullivan C, Sullivan MJ, Chang SW, Srivastava S, Conway JS, Kladney R, McElroy J, Bae S, Lu Y, Tofigh A, Saleh SMI, Fernandez SA, Parvin JD, Coppola V, Macrae ER, Majumder S, Shapiro CL, Yee LD, Ramaswamy B, Hallett M, Ostrowski MC, Park M, Chamberlin HM, Leone G) Dev Cell 2017 May 22;41(4):392-407.e6 25 Citations |
| 1 | Endoglin controls blood vessel diameter through endothelial cell shape changes in response to haemodynamic cues. (Sugden WW, Meissner R, Aegerter-Wilmsen T, Tsaryk R, Leonard EV, Bussmann J, Hamm MJ, Herzog W, Jin Y, Jakobsson L, Denz C, Siekmann AF) Nat Cell Biol 2017 Jun;19(6):653-665 160 Citations |
| 2 | Evidence for intraventricular secretion of angiotensinogen and angiotensin by the subfornical organ using transgenic mice. (Agassandian K, Grobe JL, Liu X, Agassandian M, Thompson AP, Sigmund CD, Cassell MD) Am J Physiol Regul Integr Comp Physiol 2017 Jun 01;312(6):R973-R981 13 Citations |
| 2 | Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. (Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN) Cold Spring Harb Mol Case Stud 2017 May;3(3):a001743 |
| 1 | Genetic association studies in cardiovascular diseases: Do we have enough power? (Auer PL, Stitziel NO) Trends Cardiovasc Med 2017 Aug;27(6):397-404 17 Citations |
| 1 | Mosaic trisomy 1q: a recurring chromosome anomaly that is a diagnostic challenge and is associated with a Fryns-like phenotype. (Bone KM, Chernos JE, Perrier R, Innes AM, Bernier FP, McLeod R, Thomas MA) Prenat Diagn 2017 Jun;37(6):602-610 5 Citations |
| 1 | Clinical Manifestations of Punta Toro Virus Species Complex Infections, Panama, 2009. (Gundacker ND, Carrera JP, Castillo M, Díaz Y, Valenzuela J, Tamhane A, Moreno B, Pascale JM, Tesh RB, López-Vergès S) Emerg Infect Dis 2017 May;23(5):872-874 13 Citations |
| 1 | GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. (Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR) J Med Genet 2017 Jul;54(7):460-470 209 Citations |
| 1 | Overexpression of EZH2 in multiple myeloma is associated with poor prognosis and dysregulation of cell cycle control. (Pawlyn C, Bright MD, Buros AF, Stein CK, Walters Z, Aronson LI, Mirabella F, Jones JR, Kaiser MF, Walker BA, Jackson GH, Clarke PA, Bergsagel PL, Workman P, Chesi M, Morgan GJ, Davies FE) Blood Cancer J 2017 Mar 31;7(3):e549 89 Citations |
| 1 | Acid Ceramidase Deficiency in Mice Results in a Broad Range of Central Nervous System Abnormalities. (Sikora J, Dworski S, Jones EE, Kamani MA, Micsenyi MC, Sawada T, Le Faouder P, Bertrand-Michel J, Dupuy A, Dunn CK, Xuan ICY, Casas J, Fabrias G, Hampson DR, Levade T, Drake RR, Medin JA, Walkley SU) Am J Pathol 2017 Apr;187(4):864-883 46 Citations |
| 1 | Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. (Vasilyeva TA, Voskresenskaya AA, Käsmann-Kellner B, Khlebnikova OV, Pozdeyeva NA, Bayazutdinova GM, Kutsev SI, Ginter EK, Semina EV, Marakhonov AV, Zinchenko RA) Clin Genet 2017 Dec;92(6):639-644 33 Citations |
| 1 | Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease. (van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ) J Biol Chem 2017 May 12;292(19):7904-7920 29 Citations |
| 1 | Skeletal muscle PGC-1β signaling is sufficient to drive an endurance exercise phenotype and to counteract components of detraining in mice. (Lee S, Leone TC, Rogosa L, Rumsey J, Ayala J, Coen PM, Fitts RH, Vega RB, Kelly DP) Am J Physiol Endocrinol Metab 2017 May 01;312(5):E394-E406 15 Citations |
| 1 | Extracellular Superoxide Dismutase Expression in Papillary Thyroid Cancer Mesenchymal Stem/Stromal Cells Modulates Cancer Cell Growth and Migration. (Parascandolo A, Rappa F, Cappello F, Kim J, Cantu DA, Chen H, Mazzoccoli G, Hematti P, Castellone MD, Salvatore M, Laukkanen MO) Sci Rep 2017 Feb 20;7:41416 37 Citations |
| 1 | Rare and low-frequency coding variants alter human adult height. (Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, Turcot V, Young KL, Winkler TW, Esko T, Karaderi T, Locke AE, Masca NG, Ng MC, Mudgal P, Rivas MA, Vedantam S, Mahajan A, Guo X, Abecasis G, Aben KK, Adair LS, Alam DS, Albrecht E, Allin KH, Allison M, Amouyel P, Appel EV, Arveiler D, Asselbergs FW, Auer PL, Balkau B, Banas B, Bang LE, Benn M, Bergmann S, Bielak LF, Blüher M, Boeing H, Boerwinkle E, Böger CA, Bonnycastle LL, Bork-Jensen J, Bots ML, Bottinger EP, Bowden DW, Brandslund I, Breen G, Brilliant MH, Broer L, Burt AA, Butterworth AS, Carey DJ, Caulfield MJ, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Cocca M, Collins FS, Cook JP, Corley J, Galbany JC, Cox AJ, Cuellar-Partida G, Danesh J, Davies G, de Bakker PI, de Borst GJ, de Denus S, de Groot MC, de Mutsert R, Deary IJ, Dedoussis G, Demerath EW, den Hollander AI, Dennis JG, Di Angelantonio E, Drenos F, Du M, Dunning AM, Easton DF, Ebeling T, Edwards TL, Ellinor PT, Elliott P, Evangelou E, Farmaki AE, Faul JD, Feitosa MF, Feng S, Ferrannini E, Ferrario MM, Ferrieres J, Florez JC, Ford I, Fornage M, Franks PW, Frikke-Schmidt R, Galesloot TE, Gan W, Gandin I, Gasparini P, Giedraitis V, Giri A, Girotto G, Gordon SD, Gordon-Larsen P, Gorski M, Grarup N, Grove ML, Gudnason V, Gustafsson S, Hansen T, Harris KM, Harris TB, Hattersley AT, Hayward C, He L, Heid IM, Heikkilä K, Helgeland Ø, Hernesniemi J, Hewitt AW, Hocking LJ, Hollensted M, Holmen OL, Hovingh GK, Howson JM, Hoyng CB, Huang PL, Hveem K, Ikram MA, Ingelsson E, Jackson AU, Jansson JH, Jarvik GP, Jensen GB, Jhun MA, Jia Y, Jiang X, Johansson S, Jørgensen ME, Jørgensen T, Jousilahti P, Jukema JW, Kahali B, Kahn RS, Kähönen M, Kamstrup PR, Kanoni S, Kaprio J, Karaleftheri M, Kardia SL, Karpe F, Kee F, Keeman R, Kiemeney LA, Kitajima H, Kluivers KB, Kocher T, Komulainen P, Kontto J, Kooner JS, Kooperberg C, Kovacs P, Kriebel J, Kuivaniemi H, Küry S, Kuusisto J, La Bianca M, Laakso M, Lakka TA, Lange EM, Lange LA, Langefeld CD, Langenberg C, Larson EB, Lee IT, Lehtimäki T, Lewis CE, Li H, Li J, Li-Gao R, Lin H, Lin LA, Lin X, Lind L, Lindström J, Linneberg A, Liu Y, Liu Y, Lophatananon A, Luan J, Lubitz SA, Lyytikäinen LP, Mackey DA, Madden PA, Manning AK, Männistö S, Marenne G, Marten J, Martin NG, Mazul AL, Meidtner K, Metspalu A, Mitchell P, Mohlke KL, Mook-Kanamori DO, Morgan A, Morris AD, Morris AP, Müller-Nurasyid M, Munroe PB, Nalls MA, Nauck M, Nelson CP, Neville M, Nielsen SF, Nikus K, Njølstad PR, Nordestgaard BG, Ntalla I, O'Connel JR, Oksa H, Loohuis LM, Ophoff RA, Owen KR, Packard CJ, Padmanabhan S, Palmer CN, Pasterkamp G, Patel AP, Pattie A, Pedersen O, Peissig PL, Peloso GM, Pennell CE, Perola M, Perry JA, Perry JR, Person TN, Pirie A, Polasek O, Posthuma D, Raitakari OT, Rasheed A, Rauramaa R, Reilly DF, Reiner AP, Renström F, Ridker PM, Rioux JD, Robertson N, Robino A, Rolandsson O, Rudan I, Ruth KS, Saleheen D, Salomaa V, Samani NJ, Sandow K, Sapkota Y, Sattar N, Schmidt MK, Schreiner PJ, Schulze MB, Scott RA, Segura-Lepe MP, Shah S, Sim X, Sivapalaratnam S, Small KS, Smith AV, Smith JA, Southam L, Spector TD, Speliotes EK, Starr JM, Steinthorsdottir V, Stringham HM, Stumvoll M, Surendran P, 't Hart LM, Tansey KE, Tardif JC, Taylor KD, Teumer A, Thompson DJ, Thorsteinsdottir U, Thuesen BH, Tönjes A, Tromp G, Trompet S, Tsafantakis E, Tuomilehto J, Tybjaerg-Hansen A, Tyrer JP, Uher R, Uitterlinden AG, Ulivi S, van der Laan SW, Van Der Leij AR, van Duijn CM, van Schoor NM, van Setten J, Varbo A, Varga TV, Varma R, Edwards DR, Vermeulen SH, Vestergaard H, Vitart V, Vogt TF, Vozzi D, Walker M, Wang F, Wang CA, Wang S, Wang Y, Wareham NJ, Warren HR, Wessel J, Willems SM, Wilson JG, Witte DR, Woods MO, Wu Y, Yaghootkar H, Yao J, Yao P, Yerges-Armstrong LM, Young R, Zeggini E, Zhan X, Zhang W, Zhao JH, Zhao W, Zhao W, Zheng H, Zhou W, EPIC-InterA) Nature 2017 Feb 09;542(7640):186-190 468 Citations |
| 1 | Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. (Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB) Clin Genet 2017 Oct;92(4):423-429 38 Citations |
| 1 | Minocycline enhances the mesenchymal stromal/stem cell pro-healing phenotype in triple antimicrobial-loaded hydrogels. (Guerra AD, Rose WE, Hematti P, Kao WJ) Acta Biomater 2017 Mar 15;51:184-196 26 Citations |
| 2 | A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding. (Blackburn PR, Tischer A, Zimmermann MT, Kemppainen JL, Sastry S, Knight Johnson AE, Cousin MA, Boczek NJ, Oliver G, Misra VK, Gavrilova RH, Lomberk G, Auton M, Urrutia R, Klee EW) J Biol Chem 2017 Mar 03;292(9):3866-3876 19 Citations |
| 1 | Hereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype. (Nasr SH, Dasari S, Mills JR, Theis JD, Zimmermann MT, Fonseca R, Vrana JA, Lester SJ, McLaughlin BM, Gillespie R, Highsmith WE Jr, Lee JJ, Dispenzieri A, Kurtin PJ) J Am Soc Nephrol 2017 Feb;28(2):431-438 33 Citations |
| 1 | Molecular Approaches in HFpEF: MicroRNAs and iPSC-Derived Cardiomyocytes. (Kriegel AJ, Gartz M, Afzal MZ, de Lange WJ, Ralphe JC, Strande JL) J Cardiovasc Transl Res 2017 Jun;10(3):295-304 9 Citations |
| 2 | Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages. (Collery RF, Volberding PJ, Bostrom JR, Link BA, Besharse JC) Invest Ophthalmol Vis Sci 2016 Dec 01;57(15):6805-6814 35 Citations |
| 1 | Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. (Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T) Invest Ophthalmol Vis Sci 2016 Dec 01;57(15):6861-6869 28 Citations |
| 1 | Identification and Validation of a Sickle Cell Disease Cohort Within Electronic Health Records. (Michalik DE, Taylor BW, Panepinto JA) Acad Pediatr 2017 Apr;17(3):283-287 24 Citations |
| 1 | Immune-Mediated Diseases of the Central Nervous System: A Specificity-Focused Diagnostic Paradigm. (Co DO, Bordini BJ, Meyers AB, Inglese C) Pediatr Clin North Am 2017 Feb;64(1):57-90 5 Citations |
| 1 | Presentation and Diagnostic Evaluation of Mitochondrial Disease. (Dimmock DP, Lawlor MW) Pediatr Clin North Am 2017 Feb;64(1):161-171 20 Citations |
| 1 | Effects of a gut pathobiont in a gnotobiotic mouse model of childhood undernutrition. (Wagner VE, Dey N, Guruge J, Hsiao A, Ahern PP, Semenkovich NP, Blanton LV, Cheng J, Griffin N, Stappenbeck TS, Ilkayeva O, Newgard CB, Petri W, Haque R, Ahmed T, Gordon JI) Sci Transl Med 2016 Nov 23;8(366):366ra164 49 Citations |
| 1 | Enhanced Molecular Aging in Late-Life Depression: the Senescent-Associated Secretory Phenotype. (Diniz BS, Reynolds CF 3rd, Sibille E, Lin CW, Tseng G, Lotrich F, Aizenstein HJ, Butters MA) Am J Geriatr Psychiatry 2017 Jan;25(1):64-72 53 Citations |
| 1 | Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. (Rodríguez-Cueto C, Hernández-Gálvez M, Hillard CJ, Maciel P, García-García L, Valdeolivas S, Pozo MA, Ramos JA, Gómez-Ruiz M, Fernández-Ruiz J) Neuroscience 2016 Dec 17;339:191-209 24 Citations |
| 1 | IgE-associated food allergy alters the presentation of paediatric eosinophilic esophagitis. (Pelz BJ, Wechsler JB, Amsden K, Johnson K, Singh AM, Wershil BK, Kagalwalla AF, Bryce PJ) Clin Exp Allergy 2016 Nov;46(11):1431-1440 31 Citations |
| 2 | Sucrose Nonfermenting-Related Kinase Enzyme-Mediated Rho-Associated Kinase Signaling is Responsible for Cardiac Function. (Cossette SM, Bhute VJ, Bao X, Harmann LM, Horswill MA, Sinha I, Gastonguay A, Pooya S, Bordas M, Kumar SN, Mirza SP, Palecek SP, Strande JL, Ramchandran R) Circ Cardiovasc Genet 2016 Dec;9(6):474-486 14 Citations |
| 3 | Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. (Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV) Mol Vis 2016;22:1229-1238 15 Citations |
| 1 | Radiogenomics: A systems biology approach to understanding genetic risk factors for radiotherapy toxicity? (Herskind C, Talbot CJ, Kerns SL, Veldwijk MR, Rosenstein BS, West CM) Cancer Lett 2016 Nov 01;382(1):95-109 68 Citations |
| 1 | Rapid identification of familial hypercholesterolemia from electronic health records: The SEARCH study. (Safarova MS, Liu H, Kullo IJ) J Clin Lipidol 2016;10(5):1230-9 85 Citations |
| 1 | Circulating protein Z concentration, PROZ variants, and unexplained cerebral infarction in young and middle-aged adults. (Zhang L, Segal AZ, Leifer D, Silverstein RL, Gerber LM, Devereux RB, Kizer JR) Thromb Haemost 2017 Jan 05;117(1):149-157 8 Citations |
| 1 | Breaking the Cycle: Estrous Variation Does Not Require Increased Sample Size in the Study of Female Rats. (Dayton A, Exner EC, Bukowy JD, Stodola TJ, Kurth T, Skelton M, Greene AS, Cowley AW Jr) Hypertension 2016 Nov;68(5):1139-1144 45 Citations |
| 1 | Evidence of a prominent genetic basis for associations between psychoneurometric traits and common mental disorders. (Venables NC, Hicks BM, Yancey JR, Kramer MD, Nelson LD, Strickland CM, Krueger RF, Iacono WG, Patrick CJ) Int J Psychophysiol 2017 May;115:4-12 43 Citations |
| 1 | Stromal ETS2 Regulates Chemokine Production and Immune Cell Recruitment during Acinar-to-Ductal Metaplasia. (Pitarresi JR, Liu X, Sharma SM, Cuitiño MC, Kladney RD, Mace TA, Donohue S, Nayak SG, Qu C, Lee J, Woelke SA, Trela S, LaPak K, Yu L, McElroy J, Rosol TJ, Shakya R, Ludwig T, Lesinski GB, Fernandez SA, Konieczny SF, Leone G, Wu J, Ostrowski MC) Neoplasia 2016 Sep;18(9):541-52 32 Citations |
| 1 | Alterations in macrophage phenotypes in experimental venous thrombosis. (Gallagher KA, Obi AT, Elfline MA, Hogikyan E, Luke CE, Henke S, Coleman D, Henke PK) J Vasc Surg Venous Lymphat Disord 2016 Oct;4(4):463-71 22 Citations |
| 1 | Lmx1b is required for the glutamatergic fates of a subset of spinal cord neurons. (Hilinski WC, Bostrom JR, England SJ, Juárez-Morales JL, de Jager S, Armant O, Legradi J, Strähle U, Link BA, Lewis KE) Neural Dev 2016 Aug 23;11(1):16 16 Citations |
| 2 | Intestinal Microbial Metabolites Are Linked to Severity of Myocardial Infarction in Rats. (Lam V, Su J, Hsu A, Gross GJ, Salzman NH, Baker JE) PLoS One 2016;11(8):e0160840 128 Citations |
| 4 | A colitogenic memory CD4+ T cell population mediates gastrointestinal graft-versus-host disease. (Zhou V, Agle K, Chen X, Beres A, Komorowski R, Belle L, Taylor C, Zhu F, Haribhai D, Williams CB, Verbsky J, Blumenschein W, Sadekova S, Bowman E, Ballantyne C, Weaver C, Serody DA, Vincent B, Serody J, Cua DJ, Drobyski WR) J Clin Invest 2016 Sep 01;126(9):3541-55 27 Citations |
| 1 | Targeting factor VIII expression to platelets for hemophilia A gene therapy does not induce an apparent thrombotic risk in mice. (Baumgartner CK, Mattson JG, Weiler H, Shi Q, Montgomery RR) J Thromb Haemost 2017 Jan;15(1):98-109 18 Citations |
| 1 | Loss of ABCG1 influences regulatory T cell differentiation and atherosclerosis. (Cheng HY, Gaddis DE, Wu R, McSkimming C, Haynes LD, Taylor AM, McNamara CA, Sorci-Thomas M, Hedrick CC) J Clin Invest 2016 Sep 01;126(9):3236-46 67 Citations |
| 1 | Age-dependent increase in Kalirin-9 and Kalirin-12 transcripts in human orbitofrontal cortex. (Grubisha MJ, Lin CW, Tseng GC, Penzes P, Sibille E, Sweet RA) Eur J Neurosci 2016 Oct;44(7):2483-2492 6 Citations |
| 2 | Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency. (Patterson EJ, Wilk M, Langlo CS, Kasilian M, Ring M, Hufnagel RB, Dubis AM, Tee JJ, Kalitzeos A, Gardner JC, Ahmed ZM, Sisk RA, Larsen M, Sjoberg S, Connor TB, Dubra A, Neitz J, Hardcastle AJ, Neitz M, Michaelides M, Carroll J) Invest Ophthalmol Vis Sci 2016 Jul 01;57(8):3853-63 37 Citations |
| 2 | 8q21.11 microdeletion in two patients with syndromic peters anomaly. (Happ H, Schilter KF, Weh E, Reis LM, Semina EV) Am J Med Genet A 2016 Sep;170(9):2471-5 23 Citations |
| 1 | Pharmacogenetics for Safe Codeine Use in Sickle Cell Disease. (Gammal RS, Crews KR, Haidar CE, Hoffman JM, Baker DK, Barker PJ, Estepp JH, Pei D, Broeckel U, Wang W, Weiss MJ, Relling MV, Hankins J) Pediatrics 2016 Jul;138(1) 89 Citations |
| 2 | X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis. (Gallagher J, Adams J, Hintermeyer M, Torgerson TR, Lopez-Guisa J, Ochs HD, Szabo S, Salib M, Verbsky J, Routes J) J Clin Immunol 2016 Aug;36(6):564-70 11 Citations |
| 3 | The lncRNA PVT1 Contributes to the Cervical Cancer Phenotype and Associates with Poor Patient Prognosis. (Iden M, Fye S, Li K, Chowdhury T, Ramchandran R, Rader JS) PLoS One 2016;11(5):e0156274 143 Citations |
| 1 | Challenges, priorities and novel therapies for hypoxemic respiratory failure and pulmonary hypertension in the neonate. (Aschner JL, Gien J, Ambalavanan N, Kinsella JP, Konduri GG, Lakshminrusimha S, Saugstad OD, Steinhorn RH) J Perinatol 2016 Jun;36 Suppl 2:S32-6 17 Citations |
| 1 | Clinical Phenotypes of Fontan Failure: Implications for Management. (Book WM, Gerardin J, Saraf A, Marie Valente A, Rodriguez F 3rd) Congenit Heart Dis 2016 Jul;11(4):296-308 122 Citations |
| 1 | Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. (Joshi AD, Andersson C, Buch S, Stender S, Noordam R, Weng LC, Weeke PE, Auer PL, Boehm B, Chen C, Choi H, Curhan G, Denny JC, De Vivo I, Eicher JD, Ellinghaus D, Folsom AR, Fuchs C, Gala M, Haessler J, Hofman A, Hu F, Hunter DJ, Janssen HL, Kang JH, Kooperberg C, Kraft P, Kratzer W, Lieb W, Lutsey PL, Darwish Murad S, Nordestgaard BG, Pasquale LR, Reiner AP, Ridker PM, Rimm E, Rose LM, Shaffer CM, Schafmayer C, Tamimi RM, Uitterlinden AG, Völker U, Völzke H, Wakabayashi Y, Wiggs JL, Zhu J, Roden DM, Stricker BH, Tang W, Teumer A, Hampe J, Tybjærg-Hansen A, Chasman DI, Chan AT, Johnson AD) Gastroenterology 2016 Aug;151(2):351-363.e28 81 Citations |
| 1 | Intracellular Trafficking, Localization, and Mobilization of Platelet-Borne Thiol Isomerases. (Crescente M, Pluthero FG, Li L, Lo RW, Walsh TG, Schenk MP, Holbrook LM, Louriero S, Ali MS, Vaiyapuri S, Falet H, Jones IM, Poole AW, Kahr WH, Gibbins JM) Arterioscler Thromb Vasc Biol 2016 Jun;36(6):1164-73 54 Citations |
| 1 | GENOME-WIDE ASSOCIATION STUDY (GWAS) AND GENOME-WIDE BY ENVIRONMENT INTERACTION STUDY (GWEIS) OF DEPRESSIVE SYMPTOMS IN AFRICAN AMERICAN AND HISPANIC/LATINA WOMEN. (Dunn EC, Wiste A, Radmanesh F, Almli LM, Gogarten SM, Sofer T, Faul JD, Kardia SL, Smith JA, Weir DR, Zhao W, Soare TW, Mirza SS, Hek K, Tiemeier H, Goveas JS, Sarto GE, Snively BM, Cornelis M, Koenen KC, Kraft P, Purcell S, Ressler KJ, Rosand J, Wassertheil-Smoller S, Smoller JW) Depress Anxiety 2016 Apr;33(4):265-80 94 Citations |
| 1 | Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. (Prantl L, Schreml J, Gehmert S, Klein S, Bai X, Zeitler K, Schreml S, Alt E, Gehmert S, Felthaus O) Plast Reconstr Surg 2016 Apr;137(4):1181-1190 22 Citations |
| 1 | Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. (Lesage S, Drouet V, Majounie E, Deramecourt V, Jacoupy M, Nicolas A, Cormier-Dequaire F, Hassoun SM, Pujol C, Ciura S, Erpapazoglou Z, Usenko T, Maurage CA, Sahbatou M, Liebau S, Ding J, Bilgic B, Emre M, Erginel-Unaltuna N, Guven G, Tison F, Tranchant C, Vidailhet M, Corvol JC, Krack P, Leutenegger AL, Nalls MA, Hernandez DG, Heutink P, Gibbs JR, Hardy J, Wood NW, Gasser T, Durr A, Deleuze JF, Tazir M, Destée A, Lohmann E, Kabashi E, Singleton A, Corti O, Brice A, French Parkinson's Disease Genetics Study (PDG), International Parkinson's Disease Genomics Consortium (IPDGC)) Am J Hum Genet 2016 Mar 03;98(3):500-513 343 Citations |
| 1 | Rapid discrimination of the phenotypic variants of von Willebrand disease. (Roberts JC, Morateck PA, Christopherson PA, Yan K, Hoffmann RG, Gill JC, Montgomery RR, Zimmerman Program Investigators) Blood 2016 May 19;127(20):2472-80 21 Citations |
| 1 | Testing the role of predicted gene knockouts in human anthropometric trait variation. (Lessard S, Manning AK, Low-Kam C, Auer PL, Giri A, Graff M, Schurmann C, Yaghootkar H, Luan J, Esko T, Karaderi T, NHLBI GO Exome Sequence Project, GOT2D, T2D-GENES, GIANT Consortium, Bottinger EP, Lu Y, Carlson C, Caulfield M, Dubé MP, Jackson RD, Kooperberg C, McKnight B, Mongrain I, Peters U, Reiner AP, Rhainds D, Sotoodehnia N, Hirschhorn JN, Scott RA, Munroe PB, Frayling TM, Loos RJ, North KE, Edwards TL, Tardif JC, Lindgren CM, Lettre G) Hum Mol Genet 2016 May 15;25(10):2082-2092 9 Citations |
| 2 | Ndufc2 Gene Inhibition Is Associated With Mitochondrial Dysfunction and Increased Stroke Susceptibility in an Animal Model of Complex Human Disease. (Rubattu S, Di Castro S, Schulz H, Geurts AM, Cotugno M, Bianchi F, Maatz H, Hummel O, Falak S, Stanzione R, Marchitti S, Scarpino S, Giusti B, Kura A, Gensini GF, Peyvandi F, Mannucci PM, Rasura M, Sciarretta S, Dwinell MR, Hubner N, Volpe M) J Am Heart Assoc 2016 Feb 17;5(2) 47 Citations |
| 2 | Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. (Flood VH, Christopherson PA, Gill JC, Friedman KD, Haberichter SL, Bellissimo DB, Udani RA, Dasgupta M, Hoffmann RG, Ragni MV, Shapiro AD, Lusher JM, Lentz SR, Abshire TC, Leissinger C, Hoots WK, Manco-Johnson MJ, Gruppo RA, Boggio LN, Montgomery KT, Goodeve AC, James PD, Lillicrap D, Peake IR, Montgomery RR) Blood 2016 May 19;127(20):2481-8 114 Citations |
| 1 | Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease. (Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, Dobrin R, Brodmerkel C, Snapper SB, Klein C, Brumell JH, Hu M, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Deslandres C, Griffiths AM, Gaskin KJ, Uhlig HH, Schadt EE, Muise AM) Gastroenterology 2016 May;150(5):1196-1207 97 Citations |
| 1 | Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy. (Epperla N, Hemauer K, Friedman KD, George JN, Foy P) Am J Hematol 2016 Jun;91(6):644-6 11 Citations |
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| 1 | XRCC1 Polymorphism Associated With Late Toxicity After Radiation Therapy in Breast Cancer Patients. (Seibold P, Behrens S, Schmezer P, Helmbold I, Barnett G, Coles C, Yarnold J, Talbot CJ, Imai T, Azria D, Koch CA, Dunning AM, Burnet N, Bliss JM, Symonds RP, Rattay T, Suga T, Kerns SL, Bourgier C, Vallis KA, Sautter-Bihl ML, Claßen J, Debus J, Schnabel T, Rosenstein BS, Wenz F, West CM, Popanda O, Chang-Claude J) Int J Radiat Oncol Biol Phys 2015 Aug 01;92(5):1084-1092 64 Citations |
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| 1 | Cyclin alterations in diverse cancers: Outcome and co-amplification network. (Schwaederlé M, Daniels GA, Piccioni DE, Fanta PT, Schwab RB, Shimabukuro KA, Parker BA, Kurzrock R) Oncotarget 2015 Feb 20;6(5):3033-42 34 Citations |
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| 1 | Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. (Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X, MSeqDR Consortium Participants, MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,, Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,, Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,, Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,, Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong) Mol Genet Metab 2015 Mar;114(3):388-96 72 Citations |
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| 1 | Renin knockout rat: control of adrenal aldosterone and corticosterone synthesis in vitro and adrenal gene expression. (Raff H, Gehrand A, Bruder ED, Hoffman MJ, Engeland WC, Moreno C) Am J Physiol Regul Integr Comp Physiol 2015 Jan 01;308(1):R73-7 6 Citations |
| 1 | Borrelia burgdorferi arthritis-associated locus Bbaa1 regulates Lyme arthritis and K/B×N serum transfer arthritis through intrinsic control of type I IFN production. (Ma Y, Bramwell KK, Lochhead RB, Paquette JK, Zachary JF, Weis JH, Teuscher C, Weis JJ) J Immunol 2014 Dec 15;193(12):6050-60 21 Citations |
| 3 | The Rat Genome Database 2015: genomic, phenotypic and environmental variations and disease. (Shimoyama M, De Pons J, Hayman GT, Laulederkind SJ, Liu W, Nigam R, Petri V, Smith JR, Tutaj M, Wang SJ, Worthey E, Dwinell M, Jacob H) Nucleic Acids Res 2015 Jan;43(Database issue):D743-50 178 Citations |
| 1 | Deletion of interleukin-6 prevents cardiac inflammation, fibrosis and dysfunction without affecting blood pressure in angiotensin II-high salt-induced hypertension. (González GE, Rhaleb NE, D'Ambrosio MA, Nakagawa P, Liu Y, Leung P, Dai X, Yang XP, Peterson EL, Carretero OA) J Hypertens 2015 Jan;33(1):144-52 92 Citations |
| 1 | Preemptive clinical pharmacogenetics implementation: current programs in five US medical centers. (Dunnenberger HM, Crews KR, Hoffman JM, Caudle KE, Broeckel U, Howard SC, Hunkler RJ, Klein TE, Evans WE, Relling MV) Annu Rev Pharmacol Toxicol 2015;55:89-106 399 Citations |
| 1 | Thymidine phosphorylase participates in platelet signaling and promotes thrombosis. (Li W, Gigante A, Perez-Perez MJ, Yue H, Hirano M, McIntyre TM, Silverstein RL) Circ Res 2014 Dec 05;115(12):997-1006 42 Citations |
| 1 | Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. (Coffee and Caffeine Genetics Consortium, Cornelis MC, Byrne EM, Esko T, Nalls MA, Ganna A, Paynter N, Monda KL, Amin N, Fischer K, Renstrom F, Ngwa JS, Huikari V, Cavadino A, Nolte IM, Teumer A, Yu K, Marques-Vidal P, Rawal R, Manichaikul A, Wojczynski MK, Vink JM, Zhao JH, Burlutsky G, Lahti J, Mikkilä V, Lemaitre RN, Eriksson J, Musani SK, Tanaka T, Geller F, Luan J, Hui J, Mägi R, Dimitriou M, Garcia ME, Ho WK, Wright MJ, Rose LM, Magnusson PK, Pedersen NL, Couper D, Oostra BA, Hofman A, Ikram MA, Tiemeier HW, Uitterlinden AG, van Rooij FJ, Barroso I, Johansson I, Xue L, Kaakinen M, Milani L, Power C, Snieder H, Stolk RP, Baumeister SE, Biffar R, Gu F, Bastardot F, Kutalik Z, Jacobs DR Jr, Forouhi NG, Mihailov E, Lind L, Lindgren C, Michaëlsson K, Morris A, Jensen M, Khaw KT, Luben RN, Wang JJ, Männistö S, Perälä MM, Kähönen M, Lehtimäki T, Viikari J, Mozaffarian D, Mukamal K, Psaty BM, Döring A, Heath AC, Montgomery GW, Dahmen N, Carithers T, Tucker KL, Ferrucci L, Boyd HA, Melbye M, Treur JL, Mellström D, Hottenga JJ, Prokopenko I, Tönjes A, Deloukas P, Kanoni S, Lorentzon M, Houston DK, Liu Y, Danesh J, Rasheed A, Mason MA, Zonderman AB, Franke L, Kristal BS, International Parkinson’s Disease Genomics Consortium (IPDGC), North American Brain Expression Consortium (NABEC), UK Brain Expression Consortium (UKBEC), Karjalainen J, Reed DR, Westra HJ, Evans MK, Saleheen D, Harris TB, Dedoussis G, Curhan G, Stumvoll M, Beilby J, Pasquale LR, Feenstra B, Bandinelli S, Ordovas JM, Chan AT, Peters U, Ohlsson C, Gieger C, Martin NG, Waldenberger M, Siscovick DS, Raitakari O, Eriksson JG, Mitchell P, Hunter DJ, Kraft P, Rimm EB, Boomsma DI, Borecki IB, Loos RJ, Wareham NJ, Vollenweider P, Caporaso N, Grabe HJ, Neuhouser ML, Wolffenbuttel BH, Hu FB, Hyppönen E, Järvelin MR, Cupples LA, Franks PW, Ridker PM, van Duijn CM, Heiss G, Metspalu A, North KE, Ingelsson E, Nettleton JA, van Dam RM, Chasman DI) Mol Psychiatry 2015 May;20(5):647-656 220 Citations |
| 3 | Disease pathways at the Rat Genome Database Pathway Portal: genes in context-a network approach to understanding the molecular mechanisms of disease. (Petri V, Hayman GT, Tutaj M, Smith JR, Laulederkind SJ, Wang SJ, Nigam R, De Pons J, Shimoyama M, Dwinell MR, Worthey EA, Jacob HJ) Hum Genomics 2014 Sep 30;8(1):17 7 Citations |
| 1 | Study familial hypertrophic cardiomyopathy using patient-specific induced pluripotent stem cells. (Han L, Li Y, Tchao J, Kaplan AD, Lin B, Li Y, Mich-Basso J, Lis A, Hassan N, London B, Bett GC, Tobita K, Rasmusson RL, Yang L) Cardiovasc Res 2014 Nov 01;104(2):258-69 164 Citations |
| 1 | TNF and increased intracellular iron alter macrophage polarization to a detrimental M1 phenotype in the injured spinal cord. (Kroner A, Greenhalgh AD, Zarruk JG, Passos Dos Santos R, Gaestel M, David S) Neuron 2014 Sep 03;83(5):1098-116 553 Citations |
| 1 | Tissue triage and freezing for models of skeletal muscle disease. (Meng H, Janssen PM, Grange RW, Yang L, Beggs AH, Swanson LC, Cossette SA, Frase A, Childers MK, Granzier H, Gussoni E, Lawlor MW) J Vis Exp 2014 Jul 15(89) 85 Citations |
| 1 | Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome. (Kanaji S, Fahs SA, Ware J, Montgomery RR, Shi Q) J Thromb Haemost 2014 Oct;12(10):1726-32 6 Citations |
| 1 | A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes. (Kerns SL, Guevara-Aguirre J, Andrew S, Geng J, Guevara C, Guevara-Aguirre M, Guo M, Oddoux C, Shen Y, Zurita A, Rosenfeld RG, Ostrer H, Hwa V, Dauber A) J Clin Endocrinol Metab 2014 Oct;99(10):E2117-22 49 Citations |
| 1 | The diagnostic approach to monogenic very early onset inflammatory bowel disease. (Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, Ouahed J, Wilson DC, Travis SP, Turner D, Klein C, Snapper SB, Muise AM, COLORS in IBD Study Group and NEOPICS) Gastroenterology 2014 Nov;147(5):990-1007.e3 577 Citations |
| 1 | Pragmatic Randomized Optimal Platelet and Plasma Ratios (PROPPR) Trial: design, rationale and implementation. (Baraniuk S, Tilley BC, del Junco DJ, Fox EE, van Belle G, Wade CE, Podbielski JM, Beeler AM, Hess JR, Bulger EM, Schreiber MA, Inaba K, Fabian TC, Kerby JD, Cohen MJ, Miller CN, Rizoli S, Scalea TM, O'Keeffe T, Brasel KJ, Cotton BA, Muskat P, Holcomb JB, PROPPR Study Group) Injury 2014 Sep;45(9):1287-95 131 Citations |
| 1 | Radiogenomics: radiobiology enters the era of big data and team science. (Rosenstein BS, West CM, Bentzen SM, Alsner J, Andreassen CN, Azria D, Barnett GC, Baumann M, Burnet N, Chang-Claude J, Chuang EY, Coles CE, Dekker A, De Ruyck K, De Ruysscher D, Drumea K, Dunning AM, Easton D, Eeles R, Fachal L, Gutiérrez-Enríquez S, Haustermans K, Henríquez-Hernández LA, Imai T, Jones GD, Kerns SL, Liao Z, Onel K, Ostrer H, Parliament M, Pharoah PD, Rebbeck TR, Talbot CJ, Thierens H, Vega A, Witte JS, Wong P, Zenhausern F, Radiogenomics Consortium) Int J Radiat Oncol Biol Phys 2014 Jul 15;89(4):709-13 94 Citations |
| 1 | Lipoprotein(a) level and apolipoprotein(a) phenotype as predictors of long-term cardiovascular outcomes after coronary artery bypass grafting. (Ezhov MV, Safarova MS, Afanasieva OI, Kukharchuk VV, Pokrovsky SN) Atherosclerosis 2014 Aug;235(2):477-82 45 Citations |
| 1 | Decreased HIV type 1 transcription in CCR5-Δ32 heterozygotes during suppressive antiretroviral therapy. (Wang C, Abdel-Mohsen M, Strain MC, Lada SM, Yukl S, Cockerham LR, Pilcher CD, Hecht FM, Sinclair E, Liegler T, Richman DD, Deeks SG, Pillai SK) J Infect Dis 2014 Dec 01;210(11):1838-43 10 Citations |
| 1 | Variants in nicotinamide adenine dinucleotide phosphate oxidase complex components determine susceptibility to very early onset inflammatory bowel disease. (Dhillon SS, Fattouh R, Elkadri A, Xu W, Murchie R, Walters T, Guo C, Mack D, Huynh HQ, Baksh S, Silverberg MS, Griffiths AM, Snapper SB, Brumell JH, Muise AM) Gastroenterology 2014 Sep;147(3):680-689.e2 112 Citations |
| 2 | In vivo enrichment of genetically manipulated platelets corrects the murine hemophilic phenotype and induces immune tolerance even using a low multiplicity of infection. (Schroeder JA, Chen Y, Fang J, Wilcox DA, Shi Q) J Thromb Haemost 2014 Aug;12(8):1283-93 34 Citations |
| 2 | Microscopic inner retinal hyper-reflective phenotypes in retinal and neurologic disease. (Scoles D, Higgins BP, Cooper RF, Dubis AM, Summerfelt P, Weinberg DV, Kim JE, Stepien KE, Carroll J, Dubra A) Invest Ophthalmol Vis Sci 2014 Jun 03;55(7):4015-29 46 Citations |
| 1 | Childhood chronic nausea: is it just a queasy stomach? (Kovacic K, Li BU) Curr Gastroenterol Rep 2014;16(7):395 15 Citations |
| 1 | Depletion of M2-like tumor-associated macrophages delays cutaneous T-cell lymphoma development in vivo. (Wu X, Schulte BC, Zhou Y, Haribhai D, Mackinnon AC, Plaza JA, Williams CB, Hwang ST) J Invest Dermatol 2014 Nov;134(11):2814-2822 114 Citations |
| 2 | Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. (Deml B, Reis LM, Maheshwari M, Griffis C, Bick D, Semina EV) Clin Genet 2014 Nov;86(5):475-81 47 Citations |
| 1 | Genomic structure of nucleotide diversity among Lyon rat models of metabolic syndrome. (Ma MC, Atanur SS, Aitman TJ, Kwitek AE) BMC Genomics 2014 Mar 14;15(1):197 9 Citations |
| 1 | Varied manifestations of persistent hyperplastic primary vitreous with graded somatic mosaic deletion of a single gene. (Mary-Sinclair MN, Wang X, Swanson DJ, Sung CY, Mendonca EA, Wroblewski K, Baumer SH, Goldowitz D, Jablonski MM, Skapek SX) Mol Vis 2014;20:215-30 4 Citations |
| 1 | A new model of LMP1-MYC interaction in B cell lymphoma. (Ontiveros EP, Halwani A, Stunz LL, Kamberos N, Olivier AK, Janz S, Bishop GA) Leuk Lymphoma 2014 Dec;55(12):2917-23 5 Citations |
| 2 | Diagnostic challenges in patients with bleeding phenotype and von Willebrand exon 28 polymorphism p.D1472H. (Francis JC, Hui SK, Mahoney D Jr, Dietrich JE, Friedman KD, Soundar E, Srivaths LV) Haemophilia 2014 May;20(3):e211-4 6 Citations |
| 1 | Bacillus cereus Certhrax ADP-ribosylates vinculin to disrupt focal adhesion complexes and cell adhesion. (Simon NC, Barbieri JT) J Biol Chem 2014 Apr 11;289(15):10650-10659 18 Citations |
| 1 | Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics. (Verdin H, Sorokina EA, Meire F, Casteels I, de Ravel T, Semina EV, De Baere E) Orphanet J Rare Dis 2014 Feb 20;9:26 30 Citations |
| 1 | Lens extrusion from Laminin alpha 1 mutant zebrafish. (Pathania M, Semina EV, Duncan MK) ScientificWorldJournal 2014;2014:524929 14 Citations |
| 1 | Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. (Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, Flannick J, Zhang J, Fuchsberger C, Gaulton K, Lindgren C, Locke A, Manning A, Sim X, Rivas MA, Holmen OL, Gottesman O, Lu Y, Ruderfer D, Stahl EA, Duan Q, Li Y, Durda P, Jiao S, Isaacs A, Hofman A, Bis JC, Correa A, Griswold ME, Jakobsdottir J, Smith AV, Schreiner PJ, Feitosa MF, Zhang Q, Huffman JE, Crosby J, Wassel CL, Do R, Franceschini N, Martin LW, Robinson JG, Assimes TL, Crosslin DR, Rosenthal EA, Tsai M, Rieder MJ, Farlow DN, Folsom AR, Lumley T, Fox ER, Carlson CS, Peters U, Jackson RD, van Duijn CM, Uitterlinden AG, Levy D, Rotter JI, Taylor HA, Gudnason V Jr, Siscovick DS, Fornage M, Borecki IB, Hayward C, Rudan I, Chen YE, Bottinger EP, Loos RJ, Sætrom P, Hveem K, Boehnke M, Groop L, McCarthy M, Meitinger T, Ballantyne CM, Gabriel SB, O'Donnell CJ, Post WS, North KE, Reiner AP, Boerwinkle E, Psaty BM, Altshuler D, Kathiresan S, Lin DY, Jarvik GP, Cupples LA, Kooperberg C, Wilson JG, Nickerson DA, Abecasis GR, Rich SS, Tracy RP, Willer CJ, NHLBI Grand Opportunity Exome Sequencing Project) Am J Hum Genet 2014 Feb 06;94(2):233-45 192 Citations |
| 1 | Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. (Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fornage M, Isaacs A, Jakobsdottir J, Feitosa MF, Davies G, Huffman JE, Manichaikul A, Davis B, Lohman K, Joon AY, Smith AV, Grove ML, Zanoni P, Redon V, Demissie S, Lawson K, Peters U, Carlson C, Jackson RD, Ryckman KK, Mackey RH, Robinson JG, Siscovick DS, Schreiner PJ, Mychaleckyj JC, Pankow JS, Hofman A, Uitterlinden AG, Harris TB, Taylor KD, Stafford JM, Reynolds LM, Marioni RE, Dehghan A, Franco OH, Patel AP, Lu Y, Hindy G, Gottesman O, Bottinger EP, Melander O, Orho-Melander M, Loos RJ, Duga S, Merlini PA, Farrall M, Goel A, Asselta R, Girelli D, Martinelli N, Shah SH, Kraus WE, Li M, Rader DJ, Reilly MP, McPherson R, Watkins H, Ardissino D, NHLBI GO Exome Sequencing Project, Zhang Q, Wang J, Tsai MY, Taylor HA, Correa A, Griswold ME, Lange LA, Starr JM, Rudan I, Eiriksdottir G, Launer LJ, Ordovas JM, Levy D, Chen YD, Reiner AP, Hayward C, Polasek O, Deary IJ, Borecki IB, Liu Y, Gudnason V, Wilson JG, van Duijn CM, Kooperberg C, Rich SS, Psaty BM, Rotter JI, O'Donnell CJ, Rice K, Boerwinkle E, Kathiresan S, Cupples LA) Am J Hum Genet 2014 Feb 06;94(2):223-32 269 Citations |
| 1 | A variational Bayes discrete mixture test for rare variant association. (Logsdon BA, Dai JY, Auer PL, Johnsen JM, Ganesh SK, Smith NL, Wilson JG, Tracy RP, Lange LA, Jiao S, Rich SS, Lettre G, Carlson CS, Jackson RD, O'Donnell CJ, Wurfel MM, Nickerson DA, Tang H, Reiner AP, Kooperberg C, NHLBI GO Exome Sequencing Project) Genet Epidemiol 2014 Jan;38(1):21-30 11 Citations |
| 1 | MECP2 duplication: possible cause of severe phenotype in females. (Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF) Am J Med Genet A 2014 Apr;164A(4):1029-34 24 Citations |
| 1 | Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. (Dong J, Gao J, Nalls M, Gao X, Huang X, Han J, Singleton AB, Chen H, International Parkinson’s Disease Genomics Consortium (IPDGC)) Neurobiol Aging 2014 Jun;35(6):1512.e5-1512.e10 30 Citations |
| 1 | Base-resolution maps of 5-methylcytosine and 5-hydroxymethylcytosine in Dahl S rats: effect of salt and genomic sequence. (Liu Y, Liu P, Yang C, Cowley AW Jr, Liang M) Hypertension 2014 Apr;63(4):827-38 65 Citations |
| 1 | Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease. (Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM) Gastroenterology 2014 Apr;146(4):1028-39 181 Citations |
| 1 | Heat shock modulates neutrophil motility in zebrafish. (Lam PY, Harvie EA, Huttenlocher A) PLoS One 2013;8(12):e84436 27 Citations |
| 1 | Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. (Sweeney WE Jr, Avner ED) Pediatr Res 2014 Jan;75(1-2):148-57 41 Citations |
| 1 | Characterization of SLC26A9 in patients with CF-like lung disease. (Bakouh N, Bienvenu T, Thomas A, Ehrenfeld J, Liote H, Roussel D, Duquesnoy P, Farman N, Viel M, Cherif-Zahar B, Amselem S, Taam RA, Edelman A, Planelles G, Sermet-Gaudelus I) Hum Mutat 2013 Oct;34(10):1404-14 37 Citations |
| 1 | Platelet gene therapy corrects the hemophilic phenotype in immunocompromised hemophilia A mice transplanted with genetically manipulated human cord blood stem cells. (Shi Q, Kuether EL, Chen Y, Schroeder JA, Fahs SA, Montgomery RR) Blood 2014 Jan 16;123(3):395-403 44 Citations |
| 2 | Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. (Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ) Am J Hum Genet 2013 Dec 05;93(6):1001-14 111 Citations |
| 1 | Cognitive and psychosocial phenotype of young children with neurofibromatosis-1. (Klein-Tasman BP, Janke KM, Luo W, Casnar CL, Hunter SJ, Tonsgard J, Trapane P, van der Fluit F, Kais LA) J Int Neuropsychol Soc 2014 Jan;20(1):88-98 39 Citations |
| 1 | Single-cell analysis reveals early manifestation of cancerous phenotype in pre-malignant esophageal cells. (Wang J, Shi X, Johnson RH, Kelbauskas L, Zhang W, Meldrum DR) PLoS One 2013;8(10):e75365 145 Citations |
| 1 | FMRI and fcMRI phenotypes map the genomic effect of chromosome 13 in Brown Norway and Dahl salt-sensitive rats. (Li Z, Ward BD, Dwinell MR, Lombard JH, Pawela CP) Neuroimage 2014 Apr 15;90:403-12 4 Citations |
| 1 | Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. (Stitziel NO, Fouchier SW, Sjouke B, Peloso GM, Moscoso AM, Auer PL, Goel A, Gigante B, Barnes TA, Melander O, Orho-Melander M, Duga S, Sivapalaratnam S, Nikpay M, Martinelli N, Girelli D, Jackson RD, Kooperberg C, Lange LA, Ardissino D, McPherson R, Farrall M, Watkins H, Reilly MP, Rader DJ, de Faire U, Schunkert H, Erdmann J, Samani NJ, Charnas L, Altshuler D, Gabriel S, Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S, Hovingh GK, National Heart, Lung, and Blood Institute GO Exome Sequencing Project) Arterioscler Thromb Vasc Biol 2013 Dec;33(12):2909-14 82 Citations |
| 1 | Platelet gene therapy by lentiviral gene delivery to hematopoietic stem cells restores hemostasis and induces humoral immune tolerance in FIX(null) mice. (Chen Y, Schroeder JA, Kuether EL, Zhang G, Shi Q) Mol Ther 2014 Jan;22(1):169-77 49 Citations |
| 1 | Loss of bacillus Calmette-Guérin viability adversely affects the direct response of urothelial carcinoma cells to bacillus Calmette-Guérin exposure. (Shah G, Zhang G, Chen F, Cao Y, Kalyanaraman B, See W) J Urol 2014 Mar;191(3):823-9 9 Citations |
| 4 | Identifying multiple causative genes at a single GWAS locus. (Flister MJ, Tsaih SW, O'Meara CC, Endres B, Hoffman MJ, Geurts AM, Dwinell MR, Lazar J, Jacob HJ, Moreno C) Genome Res 2013 Dec;23(12):1996-2002 92 Citations |
| 1 | Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. (Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH) Neurology 2013 Oct 01;81(14):1205-14 185 Citations |
| 1 | Activation of MAPK pathways due to DUSP4 loss promotes cancer stem cell-like phenotypes in basal-like breast cancer. (Balko JM, Schwarz LJ, Bhola NE, Kurupi R, Owens P, Miller TW, Gómez H, Cook RS, Arteaga CL) Cancer Res 2013 Oct 15;73(20):6346-58 134 Citations |
| 1 | Imputation of coding variants in African Americans: better performance using data from the exome sequencing project. (Duan Q, Liu EY, Auer PL, Zhang G, Lange EM, Jun G, Bizon C, Jiao S, Buyske S, Franceschini N, Carlson CS, Hsu L, Reiner AP, Peters U, Haessler J, Curtis K, Wassel CL, Robinson JG, Martin LW, Haiman CA, Le Marchand L, Matise TC, Hindorff LA, Crawford DC, Assimes TL, Kang HM, Heiss G, Jackson RD, Kooperberg C, Wilson JG, Abecasis GR, North KE, Nickerson DA, Lange LA, Li Y) Bioinformatics 2013 Nov 01;29(21):2744-9 31 Citations |
| 1 | Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene. (Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ, Armanios M) Hum Mutat 2013 Nov;34(11):1481-5 89 Citations |
| 1 | Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia. (Kanaji T, Kanaji S, Montgomery RR, Patel SB, Newman PJ) Blood 2013 Oct 10;122(15):2732-42 55 Citations |
| 1 | Comparative analysis of adipose-derived mesenchymal stem cells isolated from abdominal and breast tissue. (Hanson SE, Kim J, Hematti P) Aesthet Surg J 2013 Aug 01;33(6):888-98 32 Citations |
| 2 | Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. (Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV) Clin Genet 2014 Aug;86(2):142-8 43 Citations |
| 1 | Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat. (Atanur SS, Diaz AG, Maratou K, Sarkis A, Rotival M, Game L, Tschannen MR, Kaisaki PJ, Otto GW, Ma MC, Keane TM, Hummel O, Saar K, Chen W, Guryev V, Gopalakrishnan K, Garrett MR, Joe B, Citterio L, Bianchi G, McBride M, Dominiczak A, Adams DJ, Serikawa T, Flicek P, Cuppen E, Hubner N, Petretto E, Gauguier D, Kwitek A, Jacob H, Aitman TJ) Cell 2013 Aug 01;154(3):691-703 138 Citations |
| 3 | Rat Genome Database: a unique resource for rat, human, and mouse quantitative trait locus data. (Nigam R, Laulederkind SJ, Hayman GT, Smith JR, Wang SJ, Lowry TF, Petri V, De Pons J, Tutaj M, Liu W, Jayaraman P, Munzenmaier DH, Worthey EA, Dwinell MR, Shimoyama M, Jacob HJ) Physiol Genomics 2013 Sep 16;45(18):809-16 23 Citations |
| 1 | Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. (Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V) J Med Genet 2013 Oct;50(10):704-14 102 Citations |
| 1 | The Microtubule Regulatory Protein Stathmin Is Required to Maintain the Integrity of Axonal Microtubules in Drosophila. (Duncan JE, Lytle NK, Zuniga A, Goldstein LS) PLoS One 2013;8(6):e68324 41 Citations |
| 3 | Whole-genome copy number variation analysis in anophthalmia and microphthalmia. (Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV) Clin Genet 2013 Nov;84(5):473-81 45 Citations |
| 1 | Systemic ceramide accumulation leads to severe and varied pathological consequences. (Alayoubi AM, Wang JC, Au BC, Carpentier S, Garcia V, Dworski S, El-Ghamrasni S, Kirouac KN, Exertier MJ, Xiong ZJ, Privé GG, Simonaro CM, Casas J, Fabrias G, Schuchman EH, Turner PV, Hakem R, Levade T, Medin JA) EMBO Mol Med 2013 Jun;5(6):827-42 102 Citations |
| 1 | Colon cancer cells adopt an invasive phenotype without mesenchymal transition in 3-D but not 2-D culture upon combined stimulation with EGF and crypt growth factors. (Ludwig K, Tse ES, Wang JY) BMC Cancer 2013 May 02;13:221 22 Citations |
| 1 | Harnessing autophagy for cell fate control gene therapy. (Felizardo TC, Foley J, Steed K, Dropulic B, Amarnath S, Medin JA, Fowler DH) Autophagy 2013 Jul;9(7):1069-79 9 Citations |
| 1 | A comprehensive analysis of adiponectin QTLs using SNP association, SNP cis-effects on peripheral blood gene expression and gene expression correlation identified novel metabolic syndrome (MetS) genes with potential role in carcinogenesis and systemic inflammation. (Zhang Y, Kent JW Jr, Olivier M, Ali O, Cerjak D, Broeckel U, Abdou RM, Dyer TD, Comuzzie A, Curran JE, Carless MA, Rainwater DL, Göring HH, Blangero J, Kissebah AH) BMC Med Genomics 2013 Apr 29;6:14 26 Citations |
| 3 | PhenoMiner: quantitative phenotype curation at the rat genome database. (Laulederkind SJ, Liu W, Smith JR, Hayman GT, Wang SJ, Nigam R, Petri V, Lowry TF, de Pons J, Dwinell MR, Shimoyama M) Database (Oxford) 2013;2013:bat015 24 Citations |
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| 1 | Identification of two novel phenotypically distinct breast cancer cell subsets based on Sox2 transcription activity. (Wu F, Zhang J, Wang P, Ye X, Jung K, Bone KM, Pearson JD, Ingham RJ, McMullen TP, Ma Y, Lai R) Cell Signal 2012 Nov;24(11):1989-98 43 Citations |
| 1 | Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes. (HD iPSC Consortium) Cell Stem Cell 2012 Aug 03;11(2):264-78 421 Citations |
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| 1 | Obesity-insulin targeted genes in the 3p26-25 region in human studies and LG/J and SM/J mice. (Kraja AT, Lawson HA, Arnett DK, Borecki IB, Broeckel U, de las Fuentes L, Hunt SC, Province MA, Cheverud J, Rao DC) Metabolism 2012 Aug;61(8):1129-41 11 Citations |
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| 1 | A 4.1-Mb congenic region of Rf-4 contributes to glomerular permeability. (O'Meara CC, Lutz MM, Sarkis AB, Xu H, Kothinti RK, Hoffman M, Moreno C, Tabatabai NM, Lazar J, Roman RJ, Jacob HJ) J Am Soc Nephrol 2012 May;23(5):825-33 6 Citations |
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| 1 | Genetic variation in TRPS1 may regulate hip geometry as well as bone mineral density. (Ackert-Bicknell CL, Demissie S, Tsaih SW, Beamer WG, Cupples LA, Paigen BJ, Hsu YH, Kiel DP, Karasik D) Bone 2012 May;50(5):1188-95 12 Citations |
| 1 | pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish. (Liu Y, Semina EV) PLoS One 2012;7(1):e30896 32 Citations |
| 1 | Genetic mapping of habitual substance use, obesity-related traits, responses to mental and physical stress, and heart rate and blood pressure measurements reveals shared genes that are overrepresented in the neural synapse. (Nikpay M, Šeda O, Tremblay J, Petrovich M, Gaudet D, Kotchen TA, Cowley AW Jr, Hamet P) Hypertens Res 2012 Jun;35(6):585-91 39 Citations |
| 1 | Hsp90 stress potentiates rapid cellular adaptation through induction of aneuploidy. (Chen G, Bradford WD, Seidel CW, Li R) Nature 2012 Jan 29;482(7384):246-50 213 Citations |
| 1 | Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. (Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH) Am J Hum Genet 2012 Feb 10;90(2):282-9 119 Citations |
| 1 | Skin effector memory T cells do not recirculate and provide immune protection in alemtuzumab-treated CTCL patients. (Clark RA, Watanabe R, Teague JE, Schlapbach C, Tawa MC, Adams N, Dorosario AA, Chaney KS, Cutler CS, Leboeuf NR, Carter JB, Fisher DC, Kupper TS) Sci Transl Med 2012 Jan 18;4(117):117ra7 315 Citations |
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| 1 | Phenotypic variation and host interactions of Xenorhabdus bovienii SS-2004, the entomopathogenic symbiont of Steinernema jollieti nematodes. (Sugar DR, Murfin KE, Chaston JM, Andersen AW, Richards GR, deLéon L, Baum JA, Clinton WP, Forst S, Goldman BS, Krasomil-Osterfeld KC, Slater S, Stock SP, Goodrich-Blair H) Environ Microbiol 2012 Apr;14(4):924-39 43 Citations |
| 1 | The PDL1-PD1 axis converts human TH1 cells into regulatory T cells. (Amarnath S, Mangus CW, Wang JC, Wei F, He A, Kapoor V, Foley JE, Massey PR, Felizardo TC, Riley JL, Levine BL, June CH, Medin JA, Fowler DH) Sci Transl Med 2011 Nov 30;3(111):111ra120 392 Citations |
| 1 | Maternal topoisomerase II alpha, not topoisomerase II beta, enables embryonic development of zebrafish top2a-/- mutants. (Sapetto-Rebow B, McLoughlin SC, O'Shea LC, O'Leary O, Willer JR, Alvarez Y, Collery R, O'Sullivan J, Van Eeden F, Hensey C, Kennedy BN) BMC Dev Biol 2011 Nov 23;11:71 16 Citations |
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| 1 | Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype. (Pierson CR, Dulin-Smith AN, Durban AN, Marshall ML, Marshall JT, Snyder AD, Naiyer N, Gladman JT, Chandler DS, Lawlor MW, Buj-Bello A, Dowling JJ, Beggs AH) Hum Mol Genet 2012 Feb 15;21(4):811-25 51 Citations |
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| 1 | Cystic fibrosis mutations for p.F508del compound heterozygotes predict sweat chloride levels and pancreatic sufficiency. (Sebro R, Levy H, Schneck K, Dimmock D, Raby BA, Cannon CL, Broeckel U, Risch NJ) Clin Genet 2012 Dec;82(6):546-51 13 Citations |
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| 1 | Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy. (Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH) Hum Mol Genet 2011 May 15;20(10):2015-25 59 Citations |
| 1 | Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice. (Liegel R, Chang B, Dubielzig R, Sidjanin DJ) Mol Genet Metab 2011 May;103(1):51-9 38 Citations |
| 1 | Fibroblasts share mesenchymal phenotypes with stem cells, but lack their differentiation and colony-forming potential. (Alt E, Yan Y, Gehmert S, Song YH, Altman A, Gehmert S, Vykoukal D, Bai X) Biol Cell 2011 Apr;103(4):197-208 144 Citations |
| 1 | IL-10 inhibits inflammatory cytokines released by fetal mouse lung fibroblasts exposed to mechanical stretch. (Hawwa RL, Hokenson MA, Wang Y, Huang Z, Sharma S, Sanchez-Esteban J) Pediatr Pulmonol 2011 Jul;46(7):640-9 29 Citations |
| 1 | The functional -374T/A polymorphism of the receptor for advanced glycation end products may modulate Crohn's disease. (Däbritz J, Friedrichs F, Weinhage T, Hampe J, Kucharzik T, Lügering A, Broeckel U, Schreiber S, Spieker T, Stoll M, Foell D) Am J Physiol Gastrointest Liver Physiol 2011 May;300(5):G823-32 40 Citations |
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| 1 | Intraocular pressure in zebrafish: comparison of inbred strains and identification of a reduced melanin mutant with raised IOP. (Link BA, Gray MP, Smith RS, John SW) Invest Ophthalmol Vis Sci 2004 Dec;45(12):4415-22 53 Citations |
| 1 | CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease. (Kugathasan S, Collins N, Maresso K, Hoffmann RG, Stephens M, Werlin SL, Rudolph C, Broeckel U) Clin Gastroenterol Hepatol 2004 Nov;2(11):1003-9 87 Citations |
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| 2 | Mapping the genetic determinants of hypertension, metabolic diseases, and related phenotypes in the lyon hypertensive rat. (Bilusic M, Bataillard A, Tschannen MR, Gao L, Barreto NE, Vincent M, Wang T, Jacob HJ, Sassard J, Kwitek AE) Hypertension 2004 Nov;44(5):695-701 50 Citations |
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