| 2 | Update on Pheochromocytoma and Paraganglioma from the SSO Endocrine/Head and Neck Disease-Site Work Group. Part 1 of 2: Advances in Pathogenesis and Diagnosis of Pheochromocytoma and Paraganglioma. (Patel D, Phay JE, Yen TWF, Dickson PV, Wang TS, Garcia R, Yang AD, Solórzano CC, Kim LT) Ann Surg Oncol 2020 May;27(5):1329-1337 1 Citation |
| 1 | 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 2 Citations |
| 5 | Novel KLHL26 variant associated with a familial case of Ebstein's anomaly and left ventricular noncompaction. (Samudrala SSK, North LM, Stamm KD, Earing MG, Frommelt MA, Willes R, Tripathi S, Dsouza NR, Zimmermann MT, Mahnke DK, Liang HL, Lund M, Lin CW, Geddes GC, Mitchell ME, Tomita-Mitchell A) Mol Genet Genomic Med 2020 04;8(4):e1152 1 Citation |
| 1 | Phenotypic heterogeneity associated with germline GATA2 haploinsufficiency: a comprehensive kindred study. (Haddox CL, Carr RM, Abraham RS, Perez Botero J, Rodriguez V, Pardanani A, Patnaik MM) Leuk Lymphoma 2019 12;60(13):3282-3286 1 Citation |
| 1 | Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force. (Drack AV, Miraldi Utz V, Wang K, Alcorn DM, Brooks BP, Costakos DM, Couser NL, Heon E, Levin AV, Lloyd IC, Morse CL, Schmitt MA, Whitman MC, Traboulsi EI) J AAPOS 2019 08;23(4):226-228.e1 1 Citation |
| 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 01;17(1):106-112 3 Citations |
| 1 | Assessment and Validation of a Phenotype-Enhanced Variant Classification Framework to Promote or Demote RYR2 Missense Variants of Uncertain Significance. (Giudicessi JR, Lieve KVV, Rohatgi RK, Koca F, Tester DJ, van der Werf C, Martijn Bos J, Wilde AAM, Ackerman MJ) Circ Genom Precis Med 2019 05;12(5):e002510 10 Citations |
| 1 | Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue. (Shuen AY, Lanni S, Panigrahi GB, Edwards M, Yu L, Campbell BB, Mandel A, Zhang C, Zhukova N, Alharbi M, Bernstein M, Bowers DC, Carroll S, Cole KA, Constantini S, Crooks B, Dvir R, Farah R, Hijiya N, George B, Laetsch TW, Larouche V, Lindhorst S, Luiten RC, Magimairajan V, Mason G, Mason W, Mordechai O, Mushtaq N, Nicholas G, Oren M, Palma L, Pedroza LA, Ramdas J, Samuel D, Wolfe Schneider K, Seeley A, Semotiuk K, Shamvil A, Sumerauer D, Toledano H, Tomboc P, Wierman M, Van Damme A, Lee YY, Zapotocky M, Bouffet E, Durno C, Aronson M, Gallinger S, Foulkes WD, Malkin D, Tabori U, Pearson CE) J Clin Oncol 2019 02 20;37(6):461-470 9 Citations |
| 1 | Identification and Verification of Ubiquitin-Activated Bacterial Phospholipases. (Tessmer MH, Anderson DM, Pickrum AM, Riegert MO, Frank DW) J Bacteriol 2019 02 15;201(4) 3 Citations |
| 1 | Investigations for fetal and neonatal alloimmune thrombocytopenia: communication from the SSC of the ISTH. (Petermann R, Bakchoul T, Curtis BR, Mullier F, Miyata S, Arnold DM, Subcommittee on Platelet Immunology) J Thromb Haemost 2018 12;16(12):2526-2529 1 Citation |
| 1 | A feasibility study of breast cancer genetic risk assessment in a federally qualified health center. (Hoskins KF, Tejeda S, Vijayasiri G, Chukwudozie IB, Remo MH, Shah HA, Abraham IE, Balay LE, Maga TK, Searles ER, Korah VJ, Biggers A, Stolley MR, Warnecke RB) Cancer 2018 09 15;124(18):3733-3741 4 Citations |
| 1 | Retrospective genotype-phenotype analysis in a 305 patient cohort referred for testing of a targeted epilepsy panel. (Hesse AN, Bevilacqua J, Shankar K, Reddi HV) Epilepsy Res 2018 08;144:53-61 4 Citations |
| 1 | Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors. (Garfield EM, Walton KE, Quan VL, VandenBoom T, Zhang B, Kong BY, Isales MC, Panah E, Kim G, Gerami P) J Am Acad Dermatol 2018 Sep;79(3):525-534 12 Citations |
| 1 | Use of Genetic Testing for Primary Immunodeficiency Patients. (Heimall JR, Hagin D, Hajjar J, Henrickson SE, Hernandez-Trujillo HS, Tan Y, Kobrynski L, Paris K, Torgerson TR, Verbsky JW, Wasserman RL, Hsieh EWY, Blessing JJ, Chou JS, Lawrence MG, Marsh RA, Rosenzweig SD, Orange JS, Abraham RS) J Clin Immunol 2018 04;38(3):320-329 35 Citations |
| 4 | Implementation of a quality improvement project for universal genetic testing in women with ovarian cancer. (Uyar D, Neary J, Monroe A, Nugent M, Simpson P, Geurts JL) Gynecol Oncol 2018 06;149(3):565-569 12 Citations |
| 1 | Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant. (Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ) Heart Rhythm 2018 08;15(8):1223-1230 10 Citations |
| 2 | Complex karyotype in patients with mantle cell lymphoma predicts inferior survival and poor response to intensive induction therapy. (Greenwell IB, Staton AD, Lee MJ, Switchenko JM, Saxe DF, Maly JJ, Blum KA, Grover NS, Mathews SP, Gordon MJ, Danilov AV, Epperla N, Fenske TS, Hamadani M, Park SI, Flowers CR, Cohen JB) Cancer 2018 06 01;124(11):2306-2315 11 Citations |
| 1 | The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. (Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. Electronic address: ASRM@asrm.org, Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology) Fertil Steril 2018 03;109(3):429-436 89 Citations |
| 2 | 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 26 Citations |
| 1 | COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. (Verma S, Goyal P, Guglani L, Peinhardt C, Pelzek D, Barkhaus PE) J Clin Neuromuscul Dis 2018 Mar;19(3):108-116 4 Citations |
| 1 | Genetics and Genomics in Clinical Practice: The Views of Wisconsin Physicians. (McCauley MP, Marcus RK, Strong KA, Visotcky AM, Shimoyama ME, Derse AR) WMJ 2017 Jun;116(2):69-74 5 Citations |
| 6 | 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 04;138(4):957-967 21 Citations |
| 6 | Development of a high risk pancreatic screening clinic using 3.0 T MRI. (Barnes CA, Krzywda E, Lahiff S, McDowell D, Christians KK, Knechtges P, Tolat P, Hohenwalter M, Dua K, Khan AH, Evans DB, Geurts J, Tsai S) Fam Cancer 2018 01;17(1):101-111 5 Citations |
| 1 | Preoperative Genetic Testing and Personalized Medicine: Changing the Care Paradigm. (Gabriel RA, Ehrenfeld JM, Urman RD) J Med Syst 2017 Oct 17;41(12):185 5 Citations |
| 1 | Clinical utility of a 377 gene custom next-generation sequencing epilepsy panel. (Bevilacqua J, Hesse A, Cormier B, Davey J, Patel D, Shankar K, Reddi HV) J Genet 2017 Sep;96(4):681-685 9 Citations |
| 2 | Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease. (Geddes GC, Basel D, Frommelt P, Kinney A, Earing M) Pediatr Cardiol 2017 Oct;38(7):1465-1470 11 Citations |
| 2 | Role of advanced neuroimaging, fluid biomarkers and genetic testing in the assessment of sport-related concussion: a systematic review. (McCrea M, Meier T, Huber D, Ptito A, Bigler E, Debert CT, Manley G, Menon D, Chen JK, Wall R, Schneider KJ, McAllister T) Br J Sports Med 2017 Jun;51(12):919-929 88 Citations |
| 1 | Motivation, Perception, and Treatment Beliefs in the Myocardial Infarction Genes (MI-GENES) Randomized Clinical Trial. (Kattel S, Onyekwelu T, Brown SA, Jouni H, Austin E, Kullo IJ) J Genet Couns 2017 Oct;26(5):1153-1161 1 Citation |
| 1 | Obesity and cell-free DNA "no calls": is there an optimal gestational age at time of sampling? (Livergood MC, LeChien KA, Trudell AS) Am J Obstet Gynecol 2017 04;216(4):413.e1-413.e9 37 Citations |
| 1 | Ending a Diagnostic Odyssey: Family Education, Counseling, and Response to Eventual Diagnosis. (Basel D, McCarrier J) Pediatr Clin North Am 2017 Feb;64(1):265-272 11 Citations |
| 1 | Clinical and laboratory characteristics in congenital ANKRD26 mutation-associated thrombocytopenia: A detailed phenotypic study of a family. (Perez Botero J, Chen D, He R, Viswanatha DS, Majerus JA, Coon LM, Nguyen PL, Reichard KK, Oliveira JL, Tefferi A, Gangat N, Pruthi RK, Patnaik MM) Platelets 2016 Nov;27(7):712-715 13 Citations |
| 1 | Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia. (Perez-Marques F, Simpson P, Yan K, Quasney MW, Halligan N, Merchant D, Dahmer MK) Crit Care 2016 09 05;20:281 2 Citations |
| 1 | Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy. (Thomas CP, Mansilla MA, Sompallae R, Mason SO, Nishimura CJ, Kimble MJ, Campbell CA, Kwitek AE, Darbro BW, Stewart ZA, Smith RJ) Am J Transplant 2017 02;17(2):401-410 9 Citations |
| 3 | Newborn screening for SCID: lessons learned. (Buelow BJ, Verbsky JW, Routes JM) Expert Rev Hematol 2016 Jun;9(6):579-84 8 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 05 19;127(20):2472-80 13 Citations |
| 1 | Refining the continuum of CFTR-associated disorders in the era of newborn screening. (Levy H, Nugent M, Schneck K, Stachiw-Hietpas D, Laxova A, Lakser O, Rock M, Dahmer MK, Biller J, Nasr SZ, Baker M, McColley SA, Simpson P, Farrell PM) Clin Genet 2016 05;89(5):539-49 23 Citations |
| 1 | Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. (Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV) J Mol Diagn 2016 Jan;18(1):109-23 52 Citations |
| 1 | Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. (Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S) Prenat Diagn 2015 Nov;35(11):1073-8 53 Citations |
| 1 | Challenges to clinical utilization of hereditary cancer gene panel testing: perspectives from the front lines. (Marcus RK, Geurts JL, Grzybowski JA, Turaga KK, Clark Gamblin T, Strong KA, Johnston FM) Fam Cancer 2015 Dec;14(4):641-9 8 Citations |
| 1 | Breast Cancer Risk Assessment Among Low-Income Women of Color in Primary Care: A Pilot Study. (Anderson EE, Tejeda S, Childers K, Stolley MR, Warnecke RB, Hoskins KF) J Oncol Pract 2015 Jul;11(4):e460-7 6 Citations |
| 1 | Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. (Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG, American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma) Thyroid 2015 Jun;25(6):567-610 812 Citations |
| 1 | SPARCoC: a new framework for molecular pattern discovery and cancer gene identification. (Ma S, Johnson D, Ashby C, Xiong D, Cramer CL, Moore JH, Zhang S, Huang X) PLoS One 2015;10(3):e0117135 6 Citations |
| 2 | Use of cell-free fetal DNA in maternal plasma for noninvasive prenatal screening. (Wagner AJ, Mitchell ME, Tomita-Mitchell A) Clin Perinatol 2014 Dec;41(4):957-66 14 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;55:89-106 230 Citations |
| 1 | Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care. (Lee DD, Veith RL, Dimmock DP, Samyn MM) Pediatr Cardiol 2014 Dec;35(8):1474-7 2 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 315 Citations |
| 1 | In vivo imaging of human cone photoreceptor inner segments. (Scoles D, Sulai YN, Langlo CS, Fishman GA, Curcio CA, Carroll J, Dubra A) Invest Ophthalmol Vis Sci 2014 Jun 06;55(7):4244-51 199 Citations |
| 5 | Relationship between foveal cone specialization and pit morphology in albinism. (Wilk MA, McAllister JT, Cooper RF, Dubis AM, Patitucci TN, Summerfelt P, Anderson JL, Stepien KE, Costakos DM, Connor TB Jr, Wirostko WJ, Chiang PW, Dubra A, Curcio CA, Brilliant MH, Summers CG, Carroll J) Invest Ophthalmol Vis Sci 2014 May 20;55(7):4186-98 73 Citations |
| 1 | An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. (Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM) Genome Biol 2014 Mar 25;15(3):R53 76 Citations |
| 1 | PG4KDS: a model for the clinical implementation of pre-emptive pharmacogenetics. (Hoffman JM, Haidar CE, Wilkinson MR, Crews KR, Baker DK, Kornegay NM, Yang W, Pui CH, Reiss UM, Gaur AH, Howard SC, Evans WE, Broeckel U, Relling MV) Am J Med Genet C Semin Med Genet 2014 Mar;166C(1):45-55 139 Citations |
| 4 | In the absence of evidentiary harm, existing societal norms regarding parental authority should prevail. (Strong KA, Derse AR, Dimmock DP, Zusevics KL, Jeruzal J, Worthey E, Bick D, Scharer G, La Pean Kirschner A, Spellecy R, Farrell MH, Geurts J, Veith R, May T) Am J Bioeth 2014;14(3):24-6 5 Citations |
| 1 | Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic. (Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE) J Genet 2013 Dec;92(3):599-604 1 Citation |
| 1 | Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications. (Naylor RN, John PM, Winn AN, Carmody D, Greeley SA, Philipson LH, Bell GI, Huang ES) Diabetes Care 2014;37(1):202-9 69 Citations |
| 1 | Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome. (Cuneo BF, Etheridge SP, Horigome H, Sallee D, Moon-Grady A, Weng HY, Ackerman MJ, Benson DW) Circ Arrhythm Electrophysiol 2013 Oct;6(5):946-51 31 Citations |
| 1 | On the ethics of clinical whole genome sequencing of children. (May T, Zusevics KL, Strong KA) Pediatrics 2013 Aug;132(2):207-9 12 Citations |
| 1 | The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. (Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH) J Clin Immunol 2013 Oct;33(7):1156-64 70 Citations |
| 1 | The Pharmacogenomics Research Network Translational Pharmacogenetics Program: overcoming challenges of real-world implementation. (Shuldiner AR, Relling MV, Peterson JF, Hicks JK, Freimuth RR, Sadee W, Pereira NL, Roden DM, Johnson JA, Klein TE, Pharmacogenomics Research Network Translational Pharmacogenetics Program Group, Shuldiner AR, Vesely M, Robinson SW, Ambulos N Jr, Stass SA, Kelemen MD, Brown LA, Pollin TI, Beitelshees AL, Zhao RY, Pakyz RE, Palmer K, Alestock T, O'Neill C, Maloney K, Branham A, Sewell D, Relling MV, Crews K, Hoffman J, Cross S, Haidar C, Baker D, Hicks JK, Bell G, Greeson F, Gaur A, Reiss U, Huettel A, Cheng C, Gajjar A, Pappo A, Howard S, Hudson M, Pui CH, Jeha S, Evans WE, Broeckel U, Altman RB, Gong L, Whirl-Carrillo M, Klein TE, Sadee W, Manickam K, Sweet KM, Embi PJ, Roden D, Peterson J, Denny J, Schildcrout J, Bowton E, Pulley J, Beller M, Mitchell J, Danciu I, Price L, Pereira NL, Weinshilboum R, Wang L, Johnson JA, Nelson D, Clare-Salzler M, Elsey A, Burkley B, Langaee T, Liu F, Nessl D, Dong HJ, Lesko L, Freimuth RR, Chute CG) Clin Pharmacol Ther 2013 Aug;94(2):207-10 114 Citations |
| 1 | Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. (Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, Weaver DD, Abernathy MP, Litton CG, Vance GH) Genet Med 2013 Sep;15(9):729-32 57 Citations |
| 1 | Genomics and autism spectrum disorder. (Johnson NL, Giarelli E, Lewis C, Rice CE) J Nurs Scholarsh 2013 Mar;45(1):69-78 15 Citations |
| 1 | Long-term outcomes of surgical treatment for hereditary pheochromocytoma. (Grubbs EG, Rich TA, Ng C, Bhosale PR, Jimenez C, Evans DB, Lee JE, Perrier ND) J Am Coll Surg 2013 Feb;216(2):280-9 41 Citations |
| 2 | A review of next-generation genetic testing for the dermatologist. (Kwon EK, Basel D, Siegel D, Martin KL) Pediatr Dermatol 2013 Jul-Aug;30(4):401-8 7 Citations |
| 1 | Large duplication in MTM1 associated with myotubular myopathy. (Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ) Neuromuscul Disord 2013 Mar;23(3):214-8 8 Citations |
| 1 | A clinician-driven automated system for integration of pharmacogenetic interpretations into an electronic medical record. (Hicks JK, Crews KR, Hoffman JM, Kornegay NM, Wilkinson MR, Lorier R, Stoddard A, Yang W, Smith C, Fernandez CA, Cross SJ, Haidar C, Baker DK, Howard SC, Evans WE, Broeckel U, Relling MV) Clin Pharmacol Ther 2012 Nov;92(5):563-6 73 Citations |
| 1 | Use of social support during communication about sickle cell carrier status. (Bradford L, Roedl SJ, Christopher SA, Farrell MH) Patient Educ Couns 2012 Aug;88(2):203-8 8 Citations |
| 1 | Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. (Kindel SJ, Miller EM, Gupta R, Cripe LH, Hinton RB, Spicer RL, Towbin JA, Ware SM) J Card Fail 2012 May;18(5):396-403 66 Citations |
| 1 | Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. (Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, Zahn J, Lee K, Shen N, Doshi J, Sun M, Garrison J, Sandler J, Hollemon D, Pattee P, Tomita-Mitchell A, Mitchell M, Stuelpnagel J, Song K, Oliphant A) Prenat Diagn 2012 Jan;32(1):3-9 202 Citations |
| 1 | A method to assess the organizing behaviors used in physicians' counseling of standardized parents after newborn genetic screening. (Christopher SA, Ahmad NY, Bradford L, Collins JL, Eskra K, Kirschner Al, O'Tool FO, Roedl SJ, Farrell MH) Commun Med 2012;9(2):101-11 3 Citations |
| 1 | Predictive and prognostic markers in colorectal cancer. (George B, Kopetz S) Curr Oncol Rep 2011 Jun;13(3):206-15 37 Citations |
| 1 | The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes. (Greeley SA, John PM, Winn AN, Ornelas J, Lipton RB, Philipson LH, Bell GI, Huang ES) Diabetes Care 2011 Mar;34(3):622-7 58 Citations |
| 2 | A timely arrival for genomic medicine. (Mayer AN, Dimmock DP, Arca MJ, Bick DP, Verbsky JW, Worthey EA, Jacob HJ, Margolis DA) Genet Med 2011 Mar;13(3):195-6 66 Citations |
| 2 | Newborn screening for T-cell deficiency. (Chase NM, Verbsky JW, Routes JM) Curr Opin Allergy Clin Immunol 2010 Dec;10(6):521-5 16 Citations |
| 1 | More CLEC16A gene variants associated with multiple sclerosis. (Nischwitz S, Cepok S, Kroner A, Wolf C, Knop M, Müller-Sarnowski F, Pfister H, Rieckmann P, Hemmer B, Ising M, Uhr M, Bettecken T, Holsboer F, Müller-Myhsok B, Weber F) Acta Neurol Scand 2011 Jun;123(6):400-6 16 Citations |
| 1 | Giant posterior fossa cavernous malformations in 2 infants with familial cerebral cavernomatosis: the case for early screening. (Lew SM) Neurosurg Focus 2010 Sep;29(3):E18 10 Citations |
| 1 | Gene expression classifiers for relapse-free survival and minimal residual disease improve risk classification and outcome prediction in pediatric B-precursor acute lymphoblastic leukemia. (Kang H, Chen IM, Wilson CS, Bedrick EJ, Harvey RC, Atlas SR, Devidas M, Mullighan CG, Wang X, Murphy M, Ar K, Wharton W, Borowitz MJ, Bowman WP, Bhojwani D, Carroll WL, Camitta BM, Reaman GH, Smith MA, Downing JR, Hunger SP, Willman CL) Blood 2010 Feb 18;115(7):1394-405 133 Citations |
| 1 | The rocky road toward clinical genetic testing: insights into the physio-genetic basis of hearing loss. (Runge-Samuelson C, Olivier M) Physiol Genomics 2009 Oct 07;39(2):83-4 2 Citations |
| 1 | Genetic characterization of familial CPVT after 30 years. (Beery TA, Shah MJ, Benson DW) Biol Res Nurs 2009 Jul;11(1):66-72 12 Citations |
| 1 | The recognition and surgical management of heritable lesions of the pancreas. (Kim MP, Evans DB, Vu TM, Fleming JB) Surg Oncol Clin N Am 2009 Jan;18(1):99-119, ix 2 Citations |
| 1 | Zebrafish as a developmental model organism for pediatric research. (Veldman MB, Lin S) Pediatr Res 2008 Nov;64(5):470-6 71 Citations |
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