Medical College of Wisconsin
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Publications indexed to the term Mutation, Missense

FacultyTitle
1Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution. (Bursch KL, Chi YI, Licklider J, Jensen DR, Catlin AE, Zimmermann MT, Lomberk G, Urrutia RA, Smith BC) Hum Mol Genet 2026 Sep 11;35(20)    
1Structural Genomics Defines PBRM1 Bromodomain Variant Function in ccRCC. (Bursch KL, Jorge SD, Catlin AE, Nuñez R, LeClaire MD, Licklider J, Urrutia RA, Smith BC) Hum Mutat 2026;2026:9214621    
1Beyond the Stain: BAP1 -Inactivated Melanocytic Tumors With Retained BAP1 Nuclear Expression due to Missense Mutations in the Catalytic Domain. (Milanovic S, Sun C, Gunnell L, Wilk V, Shinohara MM, Chang O, Admassu N, Chiu Y, Wanat KA, Young KE, Xu Y, Flaman AN, Nohr E, Motaparthi K) J Cutan Pathol 2026 Jun;53(6):511-517    
1GJA8-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       5 Citations
4Borrelia burgdorferi tolerates alteration to P66 porin function in a murine infectivity model. (Fierros CH, Faucillion ML, Hahn BL, Anderson P, Bonde M, Kessler JR, Surdel MC, Crawford KS, Gao Y, Zhu J, Bergström S, Coburn J) Front Cell Infect Microbiol 2024;14:1528456       1 Citation
3Second 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 Citation
7In silico identification of public neo-antigens in head and neck Cancer for T cell receptor Engineering: Targeting PI3KCA and TP53 missense mutations. (Zenga J, Himburg HA, Wong SJ, Kearl T, Hematti P, Jin VX, Memon AA, Mathison AJ, Awan MJ) Oral Oncol 2024 Sep;156:106947       1 Citation
1Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. (Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN) Blood 2024 Oct 24;144(17):1765-1780       14 Citations
1Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants. (Ma JG, O'Neill MJ, Richardson E, Thomson KL, Ingles J, Muhammad A, Solus JF, Davogustto G, Anderson KC, Shoemaker MB, Stergachis AB, Floyd BJ, Dunn K, Parikh VN, Chubb H, Perrin MJ, Roden DM, Vandenberg JI, Ng CA, Glazer AM) Circ Genom Precis Med 2024 Aug;17(4):e004569       11 Citations
2Cancer-associated polybromo-1 bromodomain 4 missense variants variably impact bromodomain ligand binding and cell growth suppression. (Bursch KL, Goetz CJ, Jiao G, Nuñez R, Olp MD, Dhiman A, Khurana M, Zimmermann MT, Urrutia RA, Dykhuizen EC, Smith BC) J Biol Chem 2024 Apr;300(4):107146       9 Citations
1Variants 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       14 Citations
1ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. (Stolarova L, Kleiblova P, Zemankova P, Stastna B, Janatova M, Soukupova J, Achatz MI, Ambrosone C, Apostolou P, Arun BK, Auer P, Barnard M, Bertelsen B, Biobank Japan, Blok MJ, Boddicker N, Brunet J, Burnside ES, Calvello M, Campbell I, Chan SH, Chen F, Chiang JB, Coppa A, Cortesi L, Crujeiras-González A, Consortium CZECANCA, De Leeneer K, De Putter R, DePersia A, Devereux L, Domchek S, Efremidis A, Engel C, Ernst C, Evans DGR, Feliubadaló L, Fostira F, Fuentes-Ríos O, Gómez-García EB, González S, Haiman C, Hansen TVO, Hauke J, Hodge J, Hu C, Huang H, Ishak NDB, Iwasaki Y, Konstantopoulou I, Kraft P, Lacey J, Lázaro C, Li N, Lim WK, Lindstrom S, Lori A, Martinez E, Martins A, Matsuda K, Matullo G, McInerny S, Michailidou K, Montagna M, Monteiro ANA, Mori L, Nathanson K, Neuhausen SL, Nevanlinna H, Olson JE, Palmer J, Pasini B, Patel A, Piane M, Poppe B, Radice P, Renieri A, Resta N, Richardson ME, Rosseel T, Ruddy KJ, Santamariña M, Dos Santos ES, Teras L, Toland AE, Trentham-Dietz A, Vachon CM, Volk AE, Weber-Lassalle N, Weitzel JN, Wiesmuller L, Winham S, Yadav S, Yannoukakos D, Yao S, Zampiga V, Zethoven M, Zhang ZW, Zima T, Spurdle AB, Vega A, Rossing M, Del Valle J, De Nicolo A, Hahnen E, Claes KBM, Ngeow J, Momozawa Y, James PA, Couch FJ, Macurek L, Kleibl Z) Clin Cancer Res 2023 Aug 15;29(16):3037-3050       29 Citations
1Variable Mutation Expression in Human Cancers: A "Hide-and-Seek" Mechanism Linked to Differential MHC-I Presentation Dynamics. (Boichard A, Kurzrock R) Mol Cancer Ther 2022 Jul 05;21(7):1219-1226    
1A de novo paradigm for male infertility. (Oud MS, Smits RM, Smith HE, Mastrorosa FK, Holt GS, Houston BJ, de Vries PF, Alobaidi BKS, Batty LE, Ismail H, Greenwood J, Sheth H, Mikulasova A, Astuti GDN, Gilissen C, McEleny K, Turner H, Coxhead J, Cockell S, Braat DDM, Fleischer K, D'Hauwers KWM, Schaafsma E, Genetics of Male Infertility Initiative (GEMINI) consortium, Nagirnaja L, Conrad DF, Friedrich C, Kliesch S, Aston KI, Riera-Escamilla A, Krausz C, Gonzaga-Jauregui C, Santibanez-Koref M, Elliott DJ, Vissers LELM, Tüttelmann F, O'Bryan MK, Ramos L, Xavier MJ, van der Heijden GW, Veltman JA) Nat Commun 2022 Jan 10;13(1):154       74 Citations
1GAPDH is involved in the heme-maturation of myoglobin and hemoglobin. (Tupta B, Stuehr E, Sumi MP, Sweeny EA, Smith B, Stuehr DJ, Ghosh A) FASEB J 2022 Feb;36(2):e22099       38 Citations
1Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. (Qiao L, Xu L, Yu L, Wynn J, Hernan R, Zhou X, Farkouh-Karoleski C, Krishnan US, Khlevner J, De A, Zygmunt A, Crombleholme T, Lim FY, Needelman H, Cusick RA, Mychaliska GB, Warner BW, Wagner AJ, Danko ME, Chung D, Potoka D, Kosiński P, McCulley DJ, Elfiky M, Azarow K, Fialkowski E, Schindel D, Soffer SZ, Lyon JB, Zalieckas JM, Vardarajan BN, Aspelund G, Duron VP, High FA, Sun X, Donahoe PK, Shen Y, Chung WK) Am J Hum Genet 2021 Oct 07;108(10):1964-1980       43 Citations
1Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations. (Tripathi S, Dsouza NR, Urrutia R, Zimmermann MT) Bioinformatics 2021 Jun 16;37(10):1367-1375       6 Citations
1Disruption 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       42 Citations
1SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma. (Young TL, Whisenhunt KN, Jin J, LaMartina SM, Martin SM, Souma T, Limviphuvadh V, Suri F, Souzeau E, Zhang X, Dan Y, Anagnos E, Carmona S, Jody NM, Stangel N, Higuchi EC, Huang SJ, Siggs OM, Simões MJ, Lawson BM, Martin JS, Elahi E, Narooie-Nejad M, Motlagh BF, Quaggin SE, Potter HD, Silva ED, Craig JE, Egas C, Maroofian R, Maurer-Stroh S, Bradfield YS, Tompson SW) Invest Ophthalmol Vis Sci 2020 Oct 01;61(12):6       44 Citations
1Trans-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       515 Citations
1Intraductal papillary squamous neoplasm of the pancreas: Cyto-histologic correlation of a novel entity. (Hagen CE, Christians K, Hopp A, Giorgadze T, Hartley CP, Hunt B, Basturk O, Klimstra D) Ann Diagn Pathol 2020 Oct;48:151583       3 Citations
1The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2. (Arrington ME, Temple B, Schaefer A, Campbell SL) J Biol Chem 2020 Aug 21;295(34):12130-12142       12 Citations
1Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. (Laitila JM, McNamara EL, Wingate CD, Goullee H, Ross JA, Taylor RL, van der Pijl R, Griffiths LM, Harries R, Ravenscroft G, Clayton JS, Sewry C, Lawlor MW, Ottenheijm CAC, Bakker AJ, Ochala J, Laing NG, Wallgren-Pettersson C, Pelin K, Nowak KJ) Acta Neuropathol Commun 2020 Feb 17;8(1):18       12 Citations
1Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation. (Wong WH, Bhatt S, Trinkaus K, Pusic I, Elliott K, Mahajan N, Wan F, Switzer GE, Confer DL, DiPersio J, Pulsipher MA, Shah NN, Sees J, Bystry A, Blundell JR, Shaw BE, Druley TE) Sci Transl Med 2020 Jan 15;12(526)       44 Citations
1Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan. (Masri A, Shboul M, Khasawneh A, Jadallah R, ALmustafa A, Escande-Beillard N, Hamamy H, Bakri F, Reversade B) Clin Neurol Neurosurg 2020 Feb;189:105636       22 Citations
1Investigation of a dilated cardiomyopathy-associated variant in BAG3 using genome-edited iPSC-derived cardiomyocytes. (McDermott-Roe C, Lv W, Maximova T, Wada S, Bukowy J, Marquez M, Lai S, Shehu A, Benjamin I, Geurts A, Musunuru K) JCI Insight 2019 Nov 14;4(22)       40 Citations
1Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. (Reis LM, Houssin NS, Zamora C, Abdul-Rahman O, Kalish JM, Zackai EH, Plageman TF Jr, Semina EV) Clin Genet 2020 Mar;97(3):502-508       19 Citations
1Clinical 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       130 Citations
1Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. (Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A) JAMA Ophthalmol 2019 Dec 01;137(12):1381-1388       18 Citations
1Mining Disaggregase Sequence Space to Safely Counter TDP-43, FUS, and α-Synuclein Proteotoxicity. (Tariq A, Lin J, Jackrel ME, Hesketh CD, Carman PJ, Mack KL, Weitzman R, Gambogi C, Hernandez Murillo OA, Sweeny EA, Gurpinar E, Yokom AL, Gates SN, Yee K, Sudesh S, Stillman J, Rizo AN, Southworth DR, Shorter J) Cell Rep 2019 Aug 20;28(8):2080-2095.e6       34 Citations
1Novel IFT140 variants cause spermatogenic dysfunction in humans. (Wang X, Sha YW, Wang WT, Cui YQ, Chen J, Yan W, Hou XT, Mei LB, Yu CC, Wang J) Mol Genet Genomic Med 2019 Sep;7(9):e920       27 Citations
1De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome. (Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV) Am J Hum Genet 2019 Aug 01;105(2):425-433       35 Citations
1Extrusion 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       31 Citations
1Targeted knock-in mice with a human mutation in GRTH/DDX25 reveals the essential role of phosphorylated GRTH in spermatid development during spermatogenesis. (Kavarthapu R, Anbazhagan R, Raju M, Morris CT, Pickel J, Dufau ML) Hum Mol Genet 2019 Aug 01;28(15):2561-2572       18 Citations
1Proline residues in scavenger receptor-BI's C-terminal region support efficient cholesterol transport. (Proudfoot SC, Sahoo D) Biochem J 2019 Mar 22;476(6):951-963       4 Citations
1De 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       96 Citations
3Acid Ceramidase Deficiency in Mice Leads to Severe Ocular Pathology and Visual Impairment. (Yu FPS, Sajdak BS, Sikora J, Salmon AE, Nagree MS, Gurka J, Kassem IS, Lipinski DM, Carroll J, Medin JA) Am J Pathol 2019 Feb;189(2):320-338       21 Citations
1Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. (Koczkowska M, Callens T, Gomes A, Sharp A, Chen Y, Hicks AD, Aylsworth AS, Azizi AA, Basel DG, Bellus G, Bird LM, Blazo MA, Burke LW, Cannon A, Collins F, DeFilippo C, Denayer E, Digilio MC, Dills SK, Dosa L, Greenwood RS, Griffis C, Gupta P, Hachen RK, Hernández-Chico C, Janssens S, Jones KJ, Jordan JT, Kannu P, Korf BR, Lewis AM, Listernick RH, Lonardo F, Mahoney MJ, Ojeda MM, McDonald MT, McDougall C, Mendelsohn N, Miller DT, Mori M, Oostenbrink R, Perreault S, Pierpont ME, Piscopo C, Pond DA, Randolph LM, Rauen KA, Rednam S, Rutledge SL, Saletti V, Schaefer GB, Schorry EK, Scott DA, Shugar A, Siqveland E, Starr LJ, Syed A, Trapane PL, Ullrich NJ, Wakefield EG, Walsh LE, Wangler MF, Zackai E, Claes KBM, Wimmer K, van Minkelen R, De Luca A, Martin Y, Legius E, Messiaen LM) Genet Med 2019 Apr;21(4):867-876       89 Citations
1Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease. (Denson LA, Jurickova I, Karns R, Shaw KA, Cutler DJ, Okou D, Valencia CA, Dodd A, 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) Inflamm Bowel Dis 2019 Feb 21;25(3):547-560       16 Citations
1Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report. (Bryant L, Lozynska O, Marsh A, Papp TE, van Gorder L, Serrano LW, Gai X, Maguire AM, Aleman TS, Bennett J) Br J Ophthalmol 2019 Jun;103(6):761-767       8 Citations
1Inactivation 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       523 Citations
2Characterization of Coding/Noncoding Variants for SHROOM3 in Patients with CKD. (Prokop JW, Yeo NC, Ottmann C, Chhetri SB, Florus KL, Ross EJ, Sosonkina N, Link BA, Freedman BI, Coppola CJ, McDermott-Roe C, Leysen S, Milroy LG, Meijer FA, Geurts AM, Rauscher FJ 3rd, Ramaker R, Flister MJ, Jacob HJ, Mendenhall EM, Lazar J) J Am Soc Nephrol 2018 May;29(5):1525-1535       46 Citations
1Clinical 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       86 Citations
1Abnormal T-Cell Receptor Excision Circle Newborn Screen: What Next? (Prince BT, Routes JM) J Allergy Clin Immunol Pract 2018;6(1):318-319    
1Novel autosomal dominant TNNT1 mutation causing nemaline myopathy. (Konersman CG, Freyermuth F, Winder TL, Lawlor MW, Lagier-Tourenne C, Patel SB) Mol Genet Genomic Med 2017 Nov;5(6):678-691       29 Citations
1Self-oligomerization regulates stability of survival motor neuron protein isoforms by sequestering an SCFSlmb degron. (Gray KM, Kaifer KA, Baillat D, Wen Y, Bonacci TR, Ebert AD, Raimer AC, Spring AM, Have ST, Glascock JJ, Gupta K, Van Duyne GD, Emanuele MJ, Lamond AI, Wagner EJ, Lorson CL, Matera AG) Mol Biol Cell 2018 Jan 15;29(2):96-110       23 Citations
1Rare 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       39 Citations
3Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling. (Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW) Cold Spring Harb Mol Case Stud 2017 Jul;3(4)       10 Citations
1Severe neonatal alloimmune thrombocytopenia caused by maternal sensitization against a new low-frequency alloantigen (Domb ) located on platelet glycoprotein IIIa. (Sullivan MJ, Kuhlmann R, Peterson JA, Curtis BR) Transfusion 2017 Jul;57(7):1847-1848       7 Citations
1Novel 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    
1JAK1 Genomic Alteration Associated With Exceptional Response to Siltuximab in Cutaneous Castleman Disease. (Patel M, Ikeda S, Pilat SR, Kurzrock R) JAMA Dermatol 2017 May 01;153(5):449-452       12 Citations
2A 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       23 Citations
1A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics. (Blackburn PR, Zimmermann MT, Gass JM, Harris KG, Cousin MA, Boczek NJ, Ross OA, Klee EW, Brazis PW, Van Gerpen JA, Atwal PS) BMC Med Genet 2016 Dec 05;17(1):93       14 Citations
1Single residue AAV capsid mutation improves transduction of photoreceptors in the Abca4-/- mouse and bipolar cells in the rd1 mouse and human retina ex vivo. (De Silva SR, Charbel Issa P, Singh MS, Lipinski DM, Barnea-Cramer AO, Walker NJ, Barnard AR, Hankins MW, MacLaren RE) Gene Ther 2016 Nov;23(11):767-774       29 Citations
4The Role of Sialylated Glycans in Human Platelet Endothelial Cell Adhesion Molecule 1 (PECAM-1)-mediated Trans Homophilic Interactions and Endothelial Cell Barrier Function. (Lertkiatmongkol P, Paddock C, Newman DK, Zhu J, Thomas MJ, Newman PJ) J Biol Chem 2016 Dec 09;291(50):26216-26225       29 Citations
1A Targeted Mutation Identified through pKa Measurements Indicates a Postrecruitment Role for Fis1 in Yeast Mitochondrial Fission. (Koppenol-Raab M, Harwig MC, Posey AE, Egner JM, MacKenzie KR, Hill RB) J Biol Chem 2016 Sep 23;291(39):20329-44       12 Citations
1Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype. (McCammon KM, Panda SP, Xia C, Kim JJ, Moutinho D, Kranendonk M, Auchus RJ, Lafer EM, Ghosh D, Martasek P, Kar R, Masters BS, Roman LJ) J Biol Chem 2016 Sep 23;291(39):20487-502       29 Citations
1De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. (Long PA, Zimmermann MT, Kim M, Evans JM, Xu X, Olson TM) Hum Genet 2016 Aug;135(8):909-917       32 Citations
1Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease. (Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators, Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, Weeke PE, Webb TR, Auer PL, Schick UM, Lu Y, Zhang H, Dube MP, Goel A, Farrall M, Peloso GM, Won HH, Do R, van Iperen E, Kanoni S, Kruppa J, Mahajan A, Scott RA, Willenberg C, Braund PS, van Capelleveen JC, Doney AS, Donnelly LA, Asselta R, Merlini PA, Duga S, Marziliano N, Denny JC, Shaffer CM, El-Mokhtari NE, Franke A, Gottesman O, Heilmann S, Hengstenberg C, Hoffman P, Holmen OL, Hveem K, Jansson JH, Jöckel KH, Kessler T, Kriebel J, Laugwitz KL, Marouli E, Martinelli N, McCarthy MI, Van Zuydam NR, Meisinger C, Esko T, Mihailov E, Escher SA, Alver M, Moebus S, Morris AD, Müller-Nurasyid M, Nikpay M, Olivieri O, Lemieux Perreault LP, AlQarawi A, Robertson NR, Akinsanya KO, Reilly DF, Vogt TF, Yin W, Asselbergs FW, Kooperberg C, Jackson RD, Stahl E, Strauch K, Varga TV, Waldenberger M, Zeng L, Kraja AT, Liu C, Ehret GB, Newton-Cheh C, Chasman DI, Chowdhury R, Ferrario M, Ford I, Jukema JW, Kee F, Kuulasmaa K, Nordestgaard BG, Perola M, Saleheen D, Sattar N, Surendran P, Tregouet D, Young R, Howson JM, Butterworth AS, Danesh J, Ardissino D, Bottinger EP, Erbel R, Franks PW, Girelli D, Hall AS, Hovingh GK, Kastrati A, Lieb W, Meitinger T, Kraus WE, Shah SH, McPherson R, Orho-Melander M, Melander O, Metspalu A, Palmer CN, Peters A, Rader D, Reilly MP, Loos RJ, Reiner AP, Roden DM, Tardif JC, Thompson JR, Wareham NJ, Watkins H, Willer CJ, Kathiresan S, Deloukas P, Samani NJ, Schunkert H) N Engl J Med 2016 Mar 24;374(12):1134-44       446 Citations
1The Functional Significance of Posttranslational Modifications on Polo-Like Kinase 1 Revealed by Chemical Genetic Complementation. (Lasek AL, McPherson BM, Trueman NG, Burkard ME) PLoS One 2016;11(2):e0150225       13 Citations
1Colon Cancer Tumorigenesis Initiated by the H1047R Mutant PI3K. (Yueh AE, Payne SN, Leystra AA, Van De Hey DR, Foley TM, Pasch CA, Clipson L, Matkowskyj KA, Deming DA) PLoS One 2016;11(2):e0148730       17 Citations
1Analysis of the Enzymatic Activity of an NS3 Helicase Genotype 3a Variant Sequence Obtained from a Relapse Patient. (Provazzi PJ, Mukherjee S, Hanson AM, Nogueira ML, Carneiro BM, Frick DN, Rahal P) PLoS One 2015;10(12):e0144638       3 Citations
1Noncatalytic PTEN missense mutation predisposes to organ-selective cancer development in vivo. (Caserta E, Egriboz O, Wang H, Martin C, Koivisto C, Pecót T, Kladney RD, Shen C, Shim KS, Pham T, Karikomi MK, Mauntel MJ, Majumder S, Cuitino MC, Tang X, Srivastava A, Yu L, Wallace J, Mo X, Park M, Fernandez SA, Pilarski R, La Perle KM, Rosol TJ, Coppola V, Castrillon DH, Timmers C, Cohn DE, O'Malley DM, Backes F, Suarez AA, Goodfellow P, Chamberlin HM, Macrae ER, Shapiro CL, Ostrowski MC, Leone G) Genes Dev 2015 Aug 15;29(16):1707-20       27 Citations
1Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease. (Chen J, Hinckley JD, Haberichter S, Jacobi P, Montgomery R, Flood VH, Wong R, Interlandi G, Chung DW, López JA, Di Paola J) Blood 2015 Jul 09;126(2):262-9       18 Citations
1A Protein Kinase C Phosphorylation Motif in GLUT1 Affects Glucose Transport and is Mutated in GLUT1 Deficiency Syndrome. (Lee EE, Ma J, Sacharidou A, Mi W, Salato VK, Nguyen N, Jiang Y, Pascual JM, North PE, Shaul PW, Mettlen M, Wang RC) Mol Cell 2015 Jun 04;58(5):845-53       126 Citations
1Hypermorphic mutation of phospholipase C, γ2 acquired in ibrutinib-resistant CLL confers BTK independency upon B-cell receptor activation. (Liu TM, Woyach JA, Zhong Y, Lozanski A, Lozanski G, Dong S, Strattan E, Lehman A, Zhang X, Jones JA, Flynn J, Andritsos LA, Maddocks K, Jaglowski SM, Blum KA, Byrd JC, Dubovsky JA, Johnson AJ) Blood 2015 Jul 02;126(1):61-8       172 Citations
3BAG3 myofibrillar myopathy presenting with cardiomyopathy. (Konersman CG, Bordini BJ, Scharer G, Lawlor MW, Zangwill S, Southern JF, Amos L, Geddes GC, Kliegman R, Collins MP) Neuromuscul Disord 2015 May;25(5):418-22       73 Citations
1Exome sequencing identifies mutant TINF2 in a family with pulmonary fibrosis. (Alder JK, Stanley SE, Wagner CL, Hamilton M, Hanumanthu VS, Armanios M) Chest 2015 May;147(5):1361-1368       175 Citations
1Isoliquiritigenin induces apoptosis and inhibits xenograft tumor growth of human lung cancer cells by targeting both wild type and L858R/T790M mutant EGFR. (Jung SK, Lee MH, Lim DY, Kim JE, Singh P, Lee SY, Jeong CH, Lim TG, Chen H, Chi YI, Kundu JK, Lee NH, Lee CC, Cho YY, Bode AM, Lee KW, Dong Z) J Biol Chem 2014 Dec 26;289(52):35839-48       118 Citations
2Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis. (Hartman HN, Niemela J, Hintermeyer MK, Garofalo M, Stoddard J, Verbsky JW, Rosenzweig SD, Routes JM) J Clin Immunol 2015 Jan;35(1):11-4       55 Citations
1IER3 supports KRASG12D-dependent pancreatic cancer development by sustaining ERK1/2 phosphorylation. (Garcia MN, Grasso D, Lopez-Millan MB, Hamidi T, Loncle C, Tomasini R, Lomberk G, Porteu F, Urrutia R, Iovanna JL) J Clin Invest 2014 Nov;124(11):4709-22       46 Citations
1Whole exome sequence analysis of Peters anomaly. (Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV) Hum Genet 2014 Dec;133(12):1497-511       71 Citations
1Mutations associated with occult hepatitis B in HIV-positive South Africans. (Powell EA, Gededzha MP, Rentz M, Rakgole NJ, Selabe SG, Seleise TA, Mphahlele MJ, Blackard JT) J Med Virol 2015 Mar;87(3):388-400       24 Citations
1NrasG12D oncoprotein inhibits apoptosis of preleukemic cells expressing Cbfβ-SMMHC via activation of MEK/ERK axis. (Xue L, Pulikkan JA, Valk PJ, Castilla LH) Blood 2014 Jul 17;124(3):426-36       30 Citations
1Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. (Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, Carlson C, de Denus S, Dubé MP, Haessler J, Jackson RD, Kooperberg C, Perreault LP, Nauck M, Peters U, Rioux JD, Schmidt F, Turcot V, Völker U, Völzke H, Greinacher A, Hsu L, Tardif JC, Diaz GA, Reiner AP, Lettre G) Nat Genet 2014 Jun;46(6):629-34       114 Citations
1A 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       13 Citations
1Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene. (Mercimek-Mahmutoglu S, Ndika J, Kanhai W, de Villemeur TB, Cheillan D, Christensen E, Dorison N, Hannig V, Hendriks Y, Hofstede FC, Lion-Francois L, Lund AM, Mundy H, Pitelet G, Raspall-Chaure M, Scott-Schwoerer JA, Szakszon K, Valayannopoulos V, Williams M, Salomons GS) Hum Mutat 2014 Apr;35(4):462-9       47 Citations
1Activation of protein kinase PKR requires dimerization-induced cis-phosphorylation within the activation loop. (Dey M, Mann BR, Anshu A, Mannan MA) J Biol Chem 2014 Feb 28;289(9):5747-57       53 Citations
4Amelioration of salt-induced vascular dysfunction in mesenteric arteries of Dahl salt-sensitive rats by missense mutation of extracellular superoxide dismutase. (Beyer AM, Raffai G, Weinberg BD, Fredrich K, Rodgers MS, Geurts AM, Jacob HJ, Dwinell MR, Lombard JH) Am J Physiol Heart Circ Physiol 2014 Feb;306(3):H339-47       12 Citations
1Detection of cytomegalovirus drug resistance mutations by next-generation sequencing. (Sahoo MK, Lefterova MI, Yamamoto F, Waggoner JJ, Chou S, Holmes SP, Anderson MW, Pinsky BA) J Clin Microbiol 2013 Nov;51(11):3700-10       102 Citations
1A model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndrome. (Li X, Venugopalan SR, Cao H, Pinho FO, Paine ML, Snead ML, Semina EV, Amendt BA) Hum Mol Genet 2014 Jan 01;23(1):194-208       24 Citations
1Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. (Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, Green D, Peters U, Cushman M, Reiner AP, NHLBI Exome Sequencing Project) Blood 2013 Jul 25;122(4):590-7       68 Citations
2Krüppel-like factor 11 regulates the expression of metabolic genes via an evolutionarily conserved protein interaction domain functionally disrupted in maturity onset diabetes of the young. (Lomberk G, Grzenda A, Mathison A, Escande C, Zhang JS, Calvo E, Miller LJ, Iovanna J, Chini EN, Fernandez-Zapico ME, Urrutia R) J Biol Chem 2013 Jun 14;288(24):17745-58       32 Citations
5No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation. (Flood VH, Friedman KD, Gill JC, Haberichter SL, Christopherson PA, Branchford BR, Hoffmann RG, Abshire TC, Dunn AL, Di Paola JA, Hoots WK, Brown DL, Leissinger C, Lusher JM, Ragni MV, Shapiro AD, Montgomery RR) Blood 2013 May 02;121(18):3742-4       35 Citations
3Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. (Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV) Hum Genet 2013 Jul;132(7):761-70       94 Citations
1X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L/M cone opsin gene. (McClements M, Davies WI, Michaelides M, Carroll J, Rha J, Mollon JD, Neitz M, MacLaren RE, Moore AT, Hunt DM) Vision Res 2013 Mar 22;80:41-50       19 Citations
1Mechanism of loss of Kv11.1 K+ current in mutant T421M-Kv11.1-expressing rat ventricular myocytes: interaction of trafficking and gating. (Balijepalli SY, Lim E, Concannon SP, Chew CL, Holzem KE, Tester DJ, Ackerman MJ, Delisle BP, Balijepalli RC, January CT) Circulation 2012 Dec 11;126(24):2809-18       14 Citations
1The compensatory G88R change is essential in restoring the normal functions of influenza A/WSN/33 virus matrix protein 1 with a disrupted nuclear localization signal. (Xie H, Lin Z, Mosier PD, Desai UR, Gao Y) J Virol 2013 Jan;87(1):345-53       9 Citations
1Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. (Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone M) J Neurol Sci 2012 Aug 15;319(1-2):158-63       9 Citations
1Expression, purification and characterization of fourth FAS1 domain of TGFβIp-associated corneal dystrophic mutants. (Elavazhagan M, Lakshminarayanan R, Zhou L, Ting LW, Tong L, Beuerman RW, Chaurasia SS, Mehta JS) Protein Expr Purif 2012 Jul;84(1):108-15       14 Citations
2Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage. (Jacobi PM, Gill JC, Flood VH, Jakab DA, Friedman KD, Haberichter SL) Blood 2012 May 10;119(19):4543-53       61 Citations
1Initiating breast cancer by PIK3CA mutation. (Miller TW) Breast Cancer Res 2012 Feb 07;14(1):301       22 Citations
2Detailed structural-functional analysis of the Krüppel-like factor 16 (KLF16) transcription factor reveals novel mechanisms for silencing Sp/KLF sites involved in metabolism and endocrinology. (Daftary GS, Lomberk GA, Buttar NS, Allen TW, Grzenda A, Zhang J, Zheng Y, Mathison AJ, Gada RP, Calvo E, Iovanna JL, Billadeau DD, Prendergast FG, Urrutia R) J Biol Chem 2012 Mar 02;287(10):7010-25       38 Citations
1Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertension. (Maloney JP, Stearman RS, Bull TM, Calabrese DW, Tripp-Addison ML, Wick MJ, Broeckel U, Robbins IM, Wheeler LA, Cogan JD, Loyd JE) Am J Physiol Lung Cell Mol Physiol 2012 Mar 15;302(6):L541-54       42 Citations
1Modeling 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       55 Citations
1Dysfunctional HDL containing L159R ApoA-I leads to exacerbation of atherosclerosis in hyperlipidemic mice. (Sorci-Thomas MG, Zabalawi M, Bharadwaj MS, Wilhelm AJ, Owen JS, Asztalos BF, Bhat S, Thomas MJ) Biochim Biophys Acta 2012 Mar;1821(3):502-12       19 Citations
1Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency. (Xia C, Panda SP, Marohnic CC, Martásek P, Masters BS, Kim JJ) Proc Natl Acad Sci U S A 2011 Aug 16;108(33):13486-91       111 Citations
1Few residues within an extensive binding interface drive receptor interaction and determine the specificity of arrestin proteins. (Vishnivetskiy SA, Gimenez LE, Francis DJ, Hanson SM, Hubbell WL, Klug CS, Gurevich VV) J Biol Chem 2011 Jul 08;286(27):24288-99       107 Citations
1Thermodynamic analysis of mutant lac repressors. (Daber R, Sochor MA, Lewis M) J Mol Biol 2011 May 27;409(1):76-87       30 Citations
1FXYD proteins reverse inhibition of the Na+-K+ pump mediated by glutathionylation of its beta1 subunit. (Bibert S, Liu CC, Figtree GA, Garcia A, Hamilton EJ, Marassi FM, Sweadner KJ, Cornelius F, Geering K, Rasmussen HH) J Biol Chem 2011 May 27;286(21):18562-72       87 Citations
1Conformational changes of NADPH-cytochrome P450 oxidoreductase are essential for catalysis and cofactor binding. (Xia C, Hamdane D, Shen AL, Choi V, Kasper CB, Pearl NM, Zhang H, Im SC, Waskell L, Kim JJ) J Biol Chem 2011 May 06;286(18):16246-60       101 Citations
1Probing the effect of MODY mutations near the co-activator-binding pocket of HNF4α. (Rha GB, Wu G, Chi YI) Biosci Rep 2011 Oct;31(5):411-9       6 Citations
1In non-severe hemophilia A the risk of inhibitor after intensive factor treatment is greater in older patients: a case-control study. (Kempton CL, Soucie JM, Miller CH, Hooper C, Escobar MA, Cohen AJ, Key NS, Thompson AR, Abshire TC) J Thromb Haemost 2010 Oct;8(10):2224-31       59 Citations
1Human cytomegalovirus pUL83 stimulates activity of the viral immediate-early promoter through its interaction with the cellular IFI16 protein. (Cristea IM, Moorman NJ, Terhune SS, Cuevas CD, O'Keefe ES, Rout MP, Chait BT, Shenk T) J Virol 2010 Aug;84(15):7803-14       146 Citations
1Cardiac channel molecular autopsy for sudden unexpected death in epilepsy. (Johnson JN, Tester DJ, Bass NE, Ackerman MJ) J Child Neurol 2010 Jul;25(7):916-21       51 Citations
1Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. (Gobin-Limballe S, McAndrew RP, Djouadi F, Kim JJ, Bastin J) Biochim Biophys Acta 2010 May;1802(5):478-84       35 Citations
2A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all? (Chiu YE, Drolet BA, Duffy KJ, Holland KE) Pediatr Dermatol 2011;28(1):15-9       15 Citations
4Limitations of the ristocetin cofactor assay in measurement of von Willebrand factor function. (Flood VH, Friedman KD, Gill JC, Morateck PA, Wren JS, Scott JP, Montgomery RR) J Thromb Haemost 2009 Nov;7(11):1832-9       77 Citations
1Genetic and clinical evaluation of juvenile retinoschisis. (Kim JE, Ruttum MS, Koeberl MJ, Hassemer EL, Sidjanin DJ) J AAPOS 2009 Apr;13(2):215-7       5 Citations
1Identification of migR, a regulatory element of the Francisella tularensis live vaccine strain iglABCD virulence operon required for normal replication and trafficking in macrophages. (Buchan BW, McCaffrey RL, Lindemann SR, Allen LA, Jones BD) Infect Immun 2009 Jun;77(6):2517-29       59 Citations
1Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. (Whyte MP, Wenkert D, McAlister WH, Mughal MZ, Freemont AJ, Whitehouse R, Baildam EM, Coburn SP, Ryan LM, Mumm S) J Bone Miner Res 2009 Aug;24(8):1493-505       73 Citations
1Interplay of reverse transcriptase inhibitor therapy and gag p6 diversity in HIV type 1 subtype G and CRF02_AG. (Ojesina AI, Chaplin B, Sankalé JL, Murphy R, Idigbe E, Adewole I, Ekong E, Idoko J, Kanki PJ) AIDS Res Hum Retroviruses 2008 Sep;24(9):1167-74       7 Citations
1A missense T (Brachyury) mutation contributes to vertebral malformations. (Ghebranious N, Blank RD, Raggio CL, Staubli J, McPherson E, Ivacic L, Rasmussen K, Jacobsen FS, Faciszewski T, Burmester JK, Pauli RM, Boachie-Adjei O, Glurich I, Giampietro PF) J Bone Miner Res 2008 Oct;23(10):1576-83       53 Citations
1GATA4 sequence variants in patients with congenital heart disease. (Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E) J Med Genet 2007 Dec;44(12):779-83       190 Citations
1Recognition of allo-peptide is governed by novel anchor imposition and limited variations in TCR contact residues. (Reinbold CJ, Malarkannan S) Mol Immunol 2008 Mar;45(5):1318-26       4 Citations
1DLL3 as a candidate gene for vertebral malformations. (Giampietro PF, Raggio CL, Reynolds C, Ghebranious N, Burmester JK, Glurich I, Rasmussen K, McPherson E, Pauli RM, Shukla SK, Merchant S, Jacobsen FS, Faciszewski T, Blank RD) Am J Med Genet A 2006 Nov 15;140(22):2447-53       46 Citations
3Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. (Ichikawa S, Imel EA, Sorenson AH, Severe R, Knudson P, Harris GJ, Shaker JL, Econs MJ) J Clin Endocrinol Metab 2006 Nov;91(11):4472-5       78 Citations
1MLH3 mutation in endometrial cancer. (Taylor NP, Powell MA, Gibb RK, Rader JS, Huettner PC, Thibodeau SN, Mutch DG, Goodfellow PJ) Cancer Res 2006 Aug 01;66(15):7502-8       28 Citations
1Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival. (Haberichter SL, Balistreri M, Christopherson P, Morateck P, Gavazova S, Bellissimo DB, Manco-Johnson MJ, Gill JC, Montgomery RR) Blood 2006 Nov 15;108(10):3344-51       191 Citations
1Tracking the prevalence of transmitted antiretroviral drug-resistant HIV-1: a decade of experience. (Shet A, Berry L, Mohri H, Mehandru S, Chung C, Kim A, Jean-Pierre P, Hogan C, Simon V, Boden D, Markowitz M) J Acquir Immune Defic Syndr 2006 Apr 01;41(4):439-46       161 Citations
1Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. (Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Müller U, Dürr A, Brice A, Papazian DM, Pulst SM) Nat Genet 2006 Apr;38(4):447-51       273 Citations
1The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension. (Chen J, Batta A, Zheng S, Fitzgibbon WR, Ullian ME, Yu H, Tso P, Salen G, Patel SB) BMC Genet 2005 Jul 18;6:40       12 Citations
1Use of GC clamps in DHPLC mutation scanning. (Wurzburger RJ, Gupta R, Parnassa AP, Jain S, Wexler JA, Chu JL, Elkon KB, Blank RD) Clin Med Res 2003 Apr;1(2):111-8       9 Citations
1Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. (Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M) Hum Genet 2005 Apr;116(5):340-6       27 Citations
1A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. (Jimenez C, Dang GT, Schultz PN, El-Naggar A, Shapiro S, Barnes EA, Evans DB, Vassilopoulou-Sellin R, Gagel RF, Cote GJ, Hoff AO) J Clin Endocrinol Metab 2004 Jul;89(7):3521-6       41 Citations
1Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. (Karandikar NJ, Kroft SH, Yegappan S, Rogers BB, Aquino VM, Lee KM, Kumar V, Guenaga FJ, Jaffe ES, Douek DC, McKenna RW) Blood 2004 Oct 01;104(7):2007-9       25 Citations
1Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. (Williams CJ, Pendleton A, Bonavita G, Reginato AJ, Hughes AE, Peariso S, Doherty M, McCarty DJ, Ryan LM) Arthritis Rheum 2003 Sep;48(9):2627-31       66 Citations
1The rat STSL locus: characterization, chromosomal assignment, and genetic variations in sitosterolemic hypertensive rats. (Yu H, Pandit B, Klett E, Lee MH, Lu K, Helou K, Ikeda I, Egashira N, Sato M, Klein R, Batta A, Salen G, Patel SB) BMC Cardiovasc Disord 2003 Jun 03;3:4       35 Citations
1Identification and functional characterization of a novel mutation of hepatocyte nuclear factor-1alpha gene in a Korean family with MODY3. (Kim KA, Kang K, Chi YI, Chang I, Lee MK, Kim KW, Shoelson SE, Lee MS) Diabetologia 2003 May;46(5):721-7       23 Citations
1Marrow cell transplantation for infantile hypophosphatasia. (Whyte MP, Kurtzberg J, McAlister WH, Mumm S, Podgornik MN, Coburn SP, Ryan LM, Miller CR, Gottesman GS, Smith AK, Douville J, Waters-Pick B, Armstrong RD, Martin PL) J Bone Miner Res 2003 Apr;18(4):624-36       166 Citations
1Diabetes mutations delineate an atypical POU domain in HNF-1alpha. (Chi YI, Frantz JD, Oh BC, Hansen L, Dhe-Paganon S, Shoelson SE) Mol Cell 2002 Nov;10(5):1129-37       93 Citations
1Differential requirement for SLP-76 domains in T cell development and function. (Myung PS, Derimanov GS, Jordan MS, Punt JA, Liu QH, Judd BA, Meyers EE, Sigmund CD, Freedman BD, Koretzky GA) Immunity 2001 Dec;15(6):1011-26       91 Citations
1Spectrum of Delta(7)-dehydrocholesterol reductase mutations in patients with the Smith-Lemli-Opitz (RSH) syndrome. (Yu H, Lee MH, Starck L, Elias ER, Irons M, Salen G, Patel SB, Tint GS) Hum Mol Genet 2000 May 22;9(9):1385-91       98 Citations
1Expression of antinociception in response to a signal for shock is blocked after selective downregulation of mu-opioid receptors in the rostral ventromedial medulla. (Foo H, Helmstetter FJ) Brain Res Mol Brain Res 2000 Mar 29;76(2):282-8       12 Citations
1Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. (Hiriyanna KT, Bingham EL, Yashar BM, Ayyagari R, Fishman G, Small KW, Weinberg DV, Weleber RG, Lewis RA, Andreasson S, Richards JE, Sieving PA) Hum Mutat 1999;14(5):423-7       44 Citations
1Delayed response to phenobarbital treatment of a Crigler-Najjar type II patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene. (Ciotti M, Werlin SL, Owens IS) J Pediatr Gastroenterol Nutr 1999 Feb;28(2):210-3       10 Citations