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Publications indexed to the term Pedigree

FacultyTitle
1Low Penetrance Retinoblastoma. (Luong H, Abruzzo T, Ramasubramanian A) J Pediatr Ophthalmol Strabismus 2024;61(2):152    
1The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele. (Hateley S, Lopez-Izquierdo A, Jou CJ, Cho S, Schraiber JG, Song S, Maguire CT, Torres N, Riedel M, Bowles NE, Arrington CB, Kennedy BJ, Etheridge SP, Lai S, Pribble C, Meyers L, Lundahl D, Byrnes J, Granka JM, Kauffman CA, Lemmon G, Boyden S, Scott Watkins W, Karren MA, Knight S, Brent Muhlestein J, Carlquist JF, Anderson JL, Chahine KG, Shah KU, Ball CA, Benjamin IJ, Yandell M, Tristani-Firouzi M) Nat Commun 2021 Nov 08;12(1):6442       6 Citations
2WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. (Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV) Hum Genet 2021 Dec;140(12):1775-1789       3 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       17 Citations
15q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation. (Quintero-Rivera F, Eno CC, Sutanto C, Jones KL, Nowaczyk MJM, Wong D, Earl D, Mirzaa G, Beck A, Martinez-Agosto JA) Hum Genet 2021 Apr;140(4):681-690       5 Citations
2Dominant 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       6 Citations
1No association between SCN9A and monogenic human epilepsy disorders. (Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL) PLoS Genet 2020 Nov;16(11):e1009161       8 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       24 Citations
1Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies. (Kuehn HS, Niemela JE, Stoddard J, Mannurita SC, Shahin T, Goel S, Hintermeyer M, Heredia RJ, Garofalo M, Lucas L, Singh S, Tondo A, Jacobs Z, Gahl WA, Latour S, Verbsky J, Routes J, Cunningham-Rundles C, Boztug K, Gambineri E, Fleisher TA, Chandrakasan S, Rosenzweig SD) Blood 2021 Jan 21;137(3):349-363       33 Citations
1SMARCB1 Gene Mutation Predisposes to Earlier Development of Glioblastoma: A Case Report of Familial GBM. (Mukherjee S, Stroberg E, Wang F, Morales L, Shan Y, Rao A, Huang JH, Wu E, Fonkem E) J Neuropathol Exp Neurol 2020 May 01;79(5):562-565       5 Citations
1Photoreceptor 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       24 Citations
1Producing Parenthood: Islamic Bioethical Perspectives & Normative Implications. (Padela AI, Klima K, Duivenbode R) New Bioeth 2020 Mar;26(1):17-37       9 Citations
1Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease. (Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Carrami EM, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM, COLORS in IBD group investigators, Oxford IBD cohort study investigators, INTERVAL Study, Swiss IBD cohort investigators, UK IBD Genetics Consortium, NIDDK IBD Genetics Consortium, Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA) Nat Commun 2020 Feb 21;11(1):995       37 Citations
2Prenatal 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       10 Citations
1Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. (Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B) Nat Commun 2020 Jan 30;11(1):595       32 Citations
7Novel 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 Apr;8(4):e1152       9 Citations
1Loss of ADAMTS19 causes progressive non-syndromic heart valve disease. (Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M, MIBAVA Leducq Consortium principal investigators, Elpeleg O, Hitz MP, Andelfinger G) Nat Genet 2020 Jan;52(1):40-47       40 Citations
1Novel 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)       5 Citations
1Mutations in RABL3 alter KRAS prenylation and are associated with hereditary pancreatic cancer. (Nissim S, Leshchiner I, Mancias JD, Greenblatt MB, Maertens O, Cassa CA, Rosenfeld JA, Cox AG, Hedgepeth J, Wucherpfennig JI, Kim AJ, Henderson JE, Gonyo P, Brandt A, Lorimer E, Unger B, Prokop JW, Heidel JR, Wang XX, Ukaegbu CI, Jennings BC, Paulo JA, Gableske S, Fierke CA, Getz G, Sunyaev SR, Wade Harper J, Cichowski K, Kimmelman AC, Houvras Y, Syngal S, Williams C, Goessling W) Nat Genet 2019 Sep;51(9):1308-1314       41 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       18 Citations
1EIF4G1 is a novel candidate gene associated with severe asthenozoospermia. (Sha Y, Liu W, Huang X, Li Y, Ji Z, Mei L, Lin S, Kong S, Lu J, Kong L, Zhu X, Lu Z, Ding L) Mol Genet Genomic Med 2019 Aug;7(8):e807       11 Citations
1Phenotypic 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 Dec;60(13):3282-3286       5 Citations
1Genetic 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       14 Citations
1X-Linked Lymphoproliferative Syndrome Presenting as Adult-Onset Multi-Infarct Dementia. (Blackburn PR, Lin WL, Miller DA, Lorenzo-Betancor O, Edwards ES, Zimmermann MT, Farrugia LP, Freeman WD, Soto AI, Walton RL, Klee EW, Atwal PS, Abraham RS, Billadeau DD, Ross OA, Dickson DW, Meschia JF) J Neuropathol Exp Neurol 2019 May 01;78(5):460-466       7 Citations
1[Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation]. (Sha Y, Mei L, Ji Z, Wang X, Lin S, Li L) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Apr 10;36(4):336-339       1 Citation
1Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. (Feitosa MF, Kraja AT, Chasman DI, Sung YJ, Winkler TW, Ntalla I, Guo X, Franceschini N, Cheng CY, Sim X, Vojinovic D, Marten J, Musani SK, Li C, Bentley AR, Brown MR, Schwander K, Richard MA, Noordam R, Aschard H, Bartz TM, Bielak LF, Dorajoo R, Fisher V, Hartwig FP, Horimoto ARVR, Lohman KK, Manning AK, Rankinen T, Smith AV, Tajuddin SM, Wojczynski MK, Alver M, Boissel M, Cai Q, Campbell A, Chai JF, Chen X, Divers J, Gao C, Goel A, Hagemeijer Y, Harris SE, He M, Hsu FC, Jackson AU, Kähönen M, Kasturiratne A, Komulainen P, Kühnel B, Laguzzi F, Luan J, Matoba N, Nolte IM, Padmanabhan S, Riaz M, Rueedi R, Robino A, Said MA, Scott RA, Sofer T, Stančáková A, Takeuchi F, Tayo BO, van der Most PJ, Varga TV, Vitart V, Wang Y, Ware EB, Warren HR, Weiss S, Wen W, Yanek LR, Zhang W, Zhao JH, Afaq S, Amin N, Amini M, Arking DE, Aung T, Boerwinkle E, Borecki I, Broeckel U, Brown M, Brumat M, Burke GL, Canouil M, Chakravarti A, Charumathi S, Ida Chen YD, Connell JM, Correa A, de Las Fuentes L, de Mutsert R, de Silva HJ, Deng X, Ding J, Duan Q, Eaton CB, Ehret G, Eppinga RN, Evangelou E, Faul JD, Felix SB, Forouhi NG, Forrester T, Franco OH, Friedlander Y, Gandin I, Gao H, Ghanbari M, Gigante B, Gu CC, Gu D, Hagenaars SP, Hallmans G, Harris TB, He J, Heikkinen S, Heng CK, Hirata M, Howard BV, Ikram MA, InterAct Consortium, John U, Katsuya T, Khor CC, Kilpeläinen TO, Koh WP, Krieger JE, Kritchevsky SB, Kubo M, Kuusisto J, Lakka TA, Langefeld CD, Langenberg C, Launer LJ, Lehne B, Lewis CE, Li Y, Lin S, Liu J, Liu J, Loh M, Louie T, Mägi R, McKenzie CA, Meitinger T, Metspalu A, Milaneschi Y, Milani L, Mohlke KL, Momozawa Y, Nalls MA, Nelson CP, Sotoodehnia N, Norris JM, O'Connell JR, Palmer ND, Perls T, Pedersen NL, Peters A, Peyser PA, Poulter N, Raffel LJ, Raitakari OT, Roll K, Rose LM, Rosendaal FR, Rotter JI, Schmidt CO, Schreiner PJ, Schupf N, Scott WR, Sever PS, Shi Y, Sidney S, Sims M, Sitlani CM, Smith JA, Snieder H, Starr JM, Strauch K, Stringham HM, Tan NYQ, Tang H, Taylor KD, Teo YY, Tham YC, Turner ST, Uitterlinden AG, Vollenweider P, Waldenberger M, Wang L, Wang YX, Wei WB, Williams C, Yao J, 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, Jonas JB, Kamatani Y, Kato N, Kooner JS, Kutalik Z, Laakso M, Laurie CC, Leander K, Lehtimäki T, Study LC, Magnusson PKE, Oldehinkel AJ, Penninx BWJH, Polasek O, Porteous DJ, Rauramaa R, Samani NJ, Scott J, Shu XO, van der Harst P, Wagenknecht LE, Wareham NJ, Watkins H, Weir DR, Wickremasinghe AR, Wu T, Zheng W, Bouchard C, Christensen K, Evans MK, Gudnason V, Horta BL, Kardia SLR, Liu Y, Pereira AC, Psaty BM, Ridker PM, van Dam RM, Gauderman WJ, Zhu X, Mook-Kanamori DO, Fornage M, Rotimi CN, Cupples LA, Kelly TN, Fox ER, Hayward C, van Duijn CM, Tai ES, Wong TY, Kooperberg C, Palmas W, Rice K, Morrison AC, Elliott P, Caulfield MJ, Munroe PB, Rao DC, Province MA, Levy D) PLoS One 2018;13(6):e0198166       61 Citations
1Dominant-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       113 Citations
2Co-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)       7 Citations
1Mutations in osteoprotegerin account for the CCAL1 locus in calcium pyrophosphate deposition disease. (Williams CJ, Qazi U, Bernstein M, Charniak A, Gohr C, Mitton-Fitzgerald E, Ortiz A, Cardinal L, Kaell AT, Rosenthal AK) Osteoarthritis Cartilage 2018 Jun;26(6):797-806       16 Citations
4PITX2 deficiency and associated human disease: insights from the zebrafish model. (Hendee KE, Sorokina EA, Muheisen SS, Reis LM, Tyler RC, Markovic V, Cuturilo G, Link BA, Semina EV) Hum Mol Genet 2018 May 15;27(10):1675-1695       44 Citations
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       24 Citations
1Shared Genetic Control of Brain Activity During Sleep and Insulin Secretion: A Laboratory-Based Family Study. (Morselli LL, Gamazon ER, Tasali E, Cox NJ, Van Cauter E, Davis LK) Diabetes 2018 Jan;67(1):155-164       1 Citation
1Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. (Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB) Hum Mol Genet 2017 Sep 15;26(18):3630-3638       26 Citations
2Identification 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       24 Citations
2Clinical 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       15 Citations
1Hereditary 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       23 Citations
1Clinical characteristics and platelet phenotype in a family with RUNX1 mutated thrombocytopenia. (Perez Botero J, Chen D, Cousin MA, Majerus JA, Coon LM, Kruisselbrink TM, Klee EW, Lazaridis KN, Pruthi RK, Patnaik MM) Leuk Lymphoma 2017 Aug;58(8):1963-1967       10 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       12 Citations
1Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. (George A, Zand DJ, Hufnagel RB, Sharma R, Sergeev YV, Legare JM, Rice GM, Scott Schwoerer JA, Rius M, Tetri L, Gamm DM, Bharti K, Brooks BP) Am J Hum Genet 2016 Dec 01;99(6):1388-1394       70 Citations
1Clinical 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       17 Citations
5Impact of MYH6 variants in hypoplastic left heart syndrome. (Tomita-Mitchell A, Stamm KD, Mahnke DK, Kim MS, Hidestrand PM, Liang HL, Goetsch MA, Hidestrand M, Simpson P, Pelech AN, Tweddell JS, Benson DW, Lough JW, Mitchell ME) Physiol Genomics 2016 Dec 01;48(12):912-921       57 Citations
3Analysis 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       7 Citations
2Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract. (Happ H, Weh E, Costakos D, Reis LM, Semina EV) BMC Med Genet 2016 Sep 08;17(1):64       6 Citations
1Screening 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 Feb;17(2):401-410       20 Citations
3Association of TMTC2 With Human Nonsyndromic Sensorineural Hearing Loss. (Runge CL, Indap A, Zhou Y, Kent JW Jr, King E, Erbe CB, Cole R, Littrell J, Merath K, James R, Rüschendorf F, Kerschner JE, Marth G, Hübner N, Göring HH, Friedland DR, Kwok WM, Olivier M) JAMA Otolaryngol Head Neck Surg 2016 Sep 01;142(9):866-72       14 Citations
3Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies. (Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV) Clin Genet 2016 Oct;90(4):378-82       12 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       23 Citations
4The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility. (Mitzelfelt KA, Limphong P, Choi MJ, Kondrat FD, Lai S, Kolander KD, Kwok WM, Dai Q, Grzybowski MN, Zhang H, Taylor GM, Lui Q, Thao MT, Hudson JA, Barresi R, Bushby K, Jungbluth H, Wraige E, Geurts AM, Benesch JL, Riedel M, Christians ES, Minella AC, Benjamin IJ) J Biol Chem 2016 Jul 15;291(29):14939-53       15 Citations
1Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients. (Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C) G3 (Bethesda) 2016 Jul 07;6(7):2073-9       12 Citations
1Loss 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       293 Citations
1Variants 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       86 Citations
1Recessive MYH6 Mutations in Hypoplastic Left Heart With Reduced Ejection Fraction. (Theis JL, Zimmermann MT, Evans JM, Eckloff BW, Wieben ED, Qureshi MY, O'Leary PW, Olson TM) Circ Cardiovasc Genet 2015 Aug;8(4):564-71       61 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       16 Citations
1Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts. (Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV) PLoS Genet 2015;11(2):e1005002       47 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       133 Citations
1Gain 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       50 Citations
2Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes. (Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U) Am J Med Genet A 2015 Jan;167A(1):95-102       12 Citations
1Quantitative pedigree analysis and mitochondrial DNA sequence variants in adults with cyclic vomiting syndrome. (Venkatesan T, Zaki EA, Kumar N, Sengupta J, Ali M, Malik B, Szabo A, van Tilburg MA, Boles RG) BMC Gastroenterol 2014 Oct 21;14:181       18 Citations
1Hypertrophic 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
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       53 Citations
1A 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       44 Citations
1Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. (Reis LM, Tyler RC, Semina EV) Mol Vis 2014;20:836-42       15 Citations
1TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy. (Theis JL, Zimmermann MT, Larsen BT, Rybakova IN, Long PA, Evans JM, Middha S, de Andrade M, Moss RL, Wieben ED, Michels VV, Olson TM) Hum Mol Genet 2014 Nov 01;23(21):5793-804       41 Citations
1A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder. (Diaz-Thomas A, Cannon J, Iyer P, Al-Maawali A, Fazalullah M, Diamond F, Mueller OT, Root AW, Alyaarubi S) J Pediatr Endocrinol Metab 2014 Sep;27(9-10):851-6       6 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       100 Citations
2Whole 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       39 Citations
1Novel 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       28 Citations
1Early-onset stroke and vasculopathy associated with mutations in ADA2. (Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I) N Engl J Med 2014 Mar 06;370(10):911-20       602 Citations
1Mutations 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       162 Citations
1Loss-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       104 Citations
1Exome 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       76 Citations
1A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. (Boccuto L, Aoki K, Flanagan-Steet H, Chen CF, Fan X, Bartel F, Petukh M, Pittman A, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE) Hum Mol Genet 2014 Jan 15;23(2):418-33       129 Citations
3Outer retinal structure in best vitelliform macular dystrophy. (Kay DB, Land ME, Cooper RF, Dubis AM, Godara P, Dubra A, Carroll J, Stepien KE) JAMA Ophthalmol 2013 Sep;131(9):1207-15       38 Citations
1Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families. (Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC) Kidney Int 2014 Feb;85(2):383-92       31 Citations
1QTL-based association analyses reveal novel genes influencing pleiotropy of metabolic syndrome (MetS). (Zhang Y, Kent JW Jr, Olivier M, Ali O, Broeckel U, Abdou RM, Dyer TD, Comuzzie A, Curran JE, Carless MA, Rainwater DL, Göring HH, Blangero J, Kissebah AH) Obesity (Silver Spring) 2013 Oct;21(10):2099-111       11 Citations
1Inference of identity by descent in population isolates and optimal sequencing studies. (Glodzik D, Navarro P, Vitart V, Hayward C, McQuillan R, Wild SH, Dunlop MG, Rudan I, Campbell H, Haley C, Wright AF, Wilson JF, McKeigue P) Eur J Hum Genet 2013 Oct;21(10):1140-5       13 Citations
1High-resolution images of retinal structure in patients with choroideremia. (Syed R, Sundquist SM, Ratnam K, Zayit-Soudry S, Zhang Y, Crawford JB, MacDonald IM, Godara P, Rha J, Carroll J, Roorda A, Stepien KE, Duncan JL) Invest Ophthalmol Vis Sci 2013 Feb 01;54(2):950-61       86 Citations
2Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). (Chiu YE, Dugan S, Basel D, Siegel DH) Pediatr Dermatol 2013;30(3):379-82       20 Citations
1Analysis of FOXD3 sequence variation in human ocular disease. (Kloss BA, Reis LM, Brémond-Gignac D, Glaser T, Semina EV) Mol Vis 2012;18:1740-9       12 Citations
1Pediatric 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       100 Citations
3Critical von Willebrand factor A1 domain residues influence type VI collagen binding. (Flood VH, Gill JC, Christopherson PA, Bellissimo DB, Friedman KD, Haberichter SL, Lentz SR, Montgomery RR) J Thromb Haemost 2012 Jul;10(7):1417-24       51 Citations
1VSX2 mutations in autosomal recessive microphthalmia. (Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV) Mol Vis 2011;17:2527-32       27 Citations
1Mutations in SERPINF1 cause osteogenesis imperfecta type VI. (Homan EP, Rauch F, Grafe I, Lietman C, Doll JA, Dawson B, Bertin T, Napierala D, Morello R, Gibbs R, White L, Miki R, Cohn DH, Crawford S, Travers R, Glorieux FH, Lee B) J Bone Miner Res 2011 Dec;26(12):2798-803       150 Citations
3BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. (Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV) Hum Genet 2011 Oct;130(4):495-504       91 Citations
1Bivariate genetic association of KIAA1797 with heart rate in American Indians: the Strong Heart Family Study. (Melton PE, Rutherford S, Voruganti VS, Göring HH, Laston S, Haack K, Comuzzie AG, Dyer TD, Johnson MP, Kent JW Jr, Curran JE, Moses EK, Blangero J, Barac A, Lee ET, Best LG, Fabsitz RR, Devereux RB, Okin PM, Bella JN, Broeckel U, Howard BV, MacCluer JW, Cole SA, Almasy L) Hum Mol Genet 2010 Sep 15;19(18):3662-71       20 Citations
2OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype. (Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV) Clin Genet 2011 Feb;79(2):158-68       83 Citations
1Obesity-related dyslipidemia associated with FAAH, independent of insulin response, in multigenerational families of Northern European descent. (Zhang Y, Sonnenberg GE, Baye TM, Littrell J, Gunnell J, DeLaForest A, MacKinney E, Hillard CJ, Kissebah AH, Olivier M, Wilke RA) Pharmacogenomics 2009 Dec;10(12):1929-39       26 Citations
1DICER1 mutations in familial pleuropulmonary blastoma. (Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ) Science 2009 Aug 21;325(5943):965       555 Citations
1Normality of colour vision in a compound heterozygous female carrying protan and deutan defects. (Tait DM, Carroll J) Clin Exp Optom 2009 Jul;92(4):356-61       3 Citations
1Electronic clinical challenges and images in GI. Image 2. Extensive bilateral extracranial subcutaneous fluid collection. (Braiteh F, Kurzrock R) Gastroenterology 2009 Jun;136(7):e3-6    
2The influence of surgery in MEN-1 syndrome: observations over 150 years. (Wilson SD, Krzywda EA, Zhu YR, Yen TW, Wang TS, Sugg SL, Pappas SG) Surgery 2008 Oct;144(4):695-701; discussion 701-2       15 Citations
1Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. (Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M) Blood 2008 Feb 01;111(3):1128-30       51 Citations
1Introgression of F344 rat genomic DNA on BB rat chromosome 4 generates diabetes-resistant lymphopenic BB rats. (Fuller JM, Kwitek AE, Hawkins TJ, Moralejo DH, Lu W, Tupling TD, Macmurray AJ, Borchardt G, Hasinoff M, Lernmark A) Diabetes 2006 Dec;55(12):3351-7       15 Citations
2Gene mutations and genomic rearrangements in the mouse as a result of transposon mobilization from chromosomal concatemers. (Geurts AM, Collier LS, Geurts JL, Oseth LL, Bell ML, Mu D, Lucito R, Godbout SA, Green LE, Lowe SW, Hirsch BA, Leinwand LA, Largaespada DA) PLoS Genet 2006 Sep 29;2(9):e156       86 Citations
1Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. (Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E) Am J Hum Genet 2006 Oct;79(4):724-30       100 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       168 Citations
2Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome. (Maciolek NL, Alward WL, Murray JC, Semina EV, McNally MT) BMC Med Genet 2006 Jul 11;7:59       22 Citations
1Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region. (Riehle MM, Markianos K, Niaré O, Xu J, Li J, Touré AM, Podiougou B, Oduol F, Diawara S, Diallo M, Coulibaly B, Ouatara A, Kruglyak L, Traoré SF, Vernick KD) Science 2006 Apr 28;312(5773):577-9       222 Citations
1A newly recognized syndrome of cutis aplasia, lipomatous footpads, microcephaly, hypotelorism, and, variably, single maxillary central incisor, and holoprosencephaly. (Basel D, Sklar D, Viljoen D) Am J Med Genet A 2005 Aug 01;136A(4):354-6       1 Citation
1Phenotypic variability associated with Arg26Gln mutation in caveolin3. (Fee DB, So YT, Barraza C, Figueroa KP, Pulst SM) Muscle Nerve 2004 Sep;30(3):375-8       30 Citations
1Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. (Jimenez C, Habra MA, Huang SC, El-Naggar A, Shapiro SE, Evans DB, Cote G, Gagel RF) J Clin Endocrinol Metab 2004 Aug;89(8):4142-5       37 Citations
1Haplotype analysis enables the diagnosis of Marfan syndrome. (Basel D, Kilpatrick MW, Tsipouras P) Conn Med 2004;68(6):363-6       2 Citations
1A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. (Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE) Ophthalmic Genet 2004 Mar;25(1):57-62       26 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       39 Citations
1Penetrance and expressivity of MSH6 germline mutations in seven kindreds not ascertained by family history. (Buttin BM, Powell MA, Mutch DG, Babb SA, Huettner PC, Edmonston TB, Herzog TJ, Rader JS, Gibb RK, Whelan AJ, Goodfellow PJ) Am J Hum Genet 2004 Jun;74(6):1262-9       58 Citations
1VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. (Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC) Ophthalmology 2004 Apr;111(4):828-36       43 Citations
1The role of genetics in the surgical management of familial endocrinopathy syndromes. (Shapiro SE, Cote GC, Lee JE, Gagel RF, Evans DB) J Am Coll Surg 2003 Nov;197(5):818-31       27 Citations
1Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. (Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D) Nat Genet 2003 Jun;34(2):220-5       227 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
1A novel connexin 26 compound heterozygous mutation results in deafness. (Harris KC, Erbe CB, Firszt JB, Flanary VA, Wackym PA) Laryngoscope 2002 Jul;112(7 Pt 1):1159-62       6 Citations
1PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. (Onuchic LF, Furu L, Nagasawa Y, Hou X, Eggermann T, Ren Z, Bergmann C, Senderek J, Esquivel E, Zeltner R, Rudnik-Schöneborn S, Mrug M, Sweeney W, Avner ED, Zerres K, Guay-Woodford LM, Somlo S, Germino GG) Am J Hum Genet 2002 May;70(5):1305-17       416 Citations
1Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). (Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC) Hum Mol Genet 2001 Apr 01;10(8):865-74       211 Citations
1Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. (Lee MH, Lu K, Hazard S, Yu H, Shulenin S, Hidaka H, Kojima H, Allikmets R, Sakuma N, Pegoraro R, Srivastava AK, Salen G, Dean M, Patel SB) Nat Genet 2001 Jan;27(1):79-83       608 Citations
1The Gordon syndrome revisited. (Basel D, Sobey G, Gardner J, Beighton P) S Afr Med J 2000 Sep;90(9):864-7       2 Citations
2Blood group A and B antigens are strongly expressed on platelets of some individuals. (Curtis BR, Edwards JT, Hessner MJ, Klein JP, Aster RH) Blood 2000 Aug 15;96(4):1574-81       103 Citations
1Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. (Kelley MJ, Jawien W, Lin A, Hoffmeister K, Pugh EW, Doheny KF, Korczak JF) Hum Genet 2000 May;106(5):557-64       21 Citations
1Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. (Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P) Am J Hum Genet 2000 Jul;67(1):59-66       231 Citations
1Atypical clustering of gynecologic malignancies: A family study including molecular analysis of candidate genes. (Cohn DE, Babb S, Whelan AJ, Mutch DG, Herzog TJ, Rader JS, Elbendary A, Goodfellow PJ) Gynecol Oncol 2000 Apr;77(1):18-25       9 Citations
1Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome by a PCR-RFLP assay: IVS8-G-->C is found in over sixty percent of US propositi. (Yu H, Tint GS, Salen G, Patel SB) Am J Med Genet 2000 Feb 14;90(4):347-50       49 Citations
1Screening for MEN1 mutations in patients with atypical endocrine neoplasia. (Dackiw AP, Cote GJ, Fleming JB, Schultz PN, Stanford P, Vassilopoulou-Sellin R, Evans DB, Gagel RF, Lee JE) Surgery 1999 Dec;126(6):1097-103; discussion 1103-4       52 Citations
1Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). (McGuirt WT, Prasad SD, Griffith AJ, Kunst HP, Green GE, Shpargel KB, Runge C, Huybrechts C, Mueller RF, Lynch E, King MC, Brunner HG, Cremers CW, Takanosu M, Li SW, Arita M, Mayne R, Prockop DJ, Van Camp G, Smith RJ) Nat Genet 1999 Dec;23(4):413-9       202 Citations
1Noncardiogenic pulmonary edema as the chief manifestation of a pheochromocytoma: a case report of MEN 2A with pedigree analysis of the RET proto-oncogene. (Okada Y, Suchi M, Takeyama H, Hodgson ME, Kato T, Manabe T) Tohoku J Exp Med 1999 Jun;188(2):177-87       8 Citations
1A 14-year old boy with presumed autosomal dominant macular dystrophy causing moderate visual impairment with no discernible progression over several years. (Ruttum M, Connor TB Jr, Traboulsi EI) J Pediatr Ophthalmol Strabismus 1999;36(5):287-91    
1ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. (Nichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U) Blood 1999 Apr 01;93(7):2261-6       71 Citations
1Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. (el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J) Eur J Hum Genet 1998;6(3):251-6       18 Citations
1A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. (Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC) Nat Genet 1998 Jun;19(2):167-70       338 Citations
1Long QT syndrome manifested as fetal ventricular tachycardia and intermittent AV block. (Lin MT, Wu MH, Hsieh FJ, Wang JK, Teng RJ, Tsou KI, Lue HC) Am J Perinatol 1998 Mar;15(3):145-7       9 Citations
1Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. (Zerres K, Mücher G, Becker J, Steinkamm C, Rudnik-Schöneborn S, Heikkilä P, Rapola J, Salonen R, Germino GG, Onuchic L, Somlo S, Avner ED, Harman LA, Stockwin JM, Guay-Woodford LM) Am J Med Genet 1998 Mar 05;76(2):137-44       214 Citations
1Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets. (Hillery CA, Mancuso DJ, Evan Sadler J, Ponder JW, Jozwiak MA, Christopherson PA, Cox Gill J, Paul Scott J, Montgomery RR) Blood 1998 Mar 01;91(5):1572-81       84 Citations
2Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. (Alward WL, Semina EV, Kalenak JW, Héon E, Sheth BP, Stone EM, Murray JC) Am J Ophthalmol 1998 Jan;125(1):98-100       126 Citations
1Usher syndrome in the Samaritans: strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders. (Bonné-Tamir B, Nystuen A, Seroussi E, Kalinsky H, Kwitek-Black AE, Korostishevsky M, Adato A, Sheffield VC) Am J Phys Anthropol 1997 Oct;104(2):193-200       11 Citations
2Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred. (Findling JW, Raff H, Hansson JH, Lifton RP) J Clin Endocrinol Metab 1997 Apr;82(4):1071-4       71 Citations
1Complementation of reduced survival, hypotension, and renal abnormalities in angiotensinogen-deficient mice by the human renin and human angiotensinogen genes. (Davisson RL, Kim HS, Krege JH, Lager DJ, Smithies O, Sigmund CD) J Clin Invest 1997 Mar 15;99(6):1258-64       66 Citations
1Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. (Repaske DR, Medlej R, Gültekin EK, Krishnamani MR, Halaby G, Findling JW, Phillips JA 3rd) J Clin Endocrinol Metab 1997 Jan;82(1):51-6       68 Citations
1Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. (Wohllk N, Cote GJ, Bugalho MM, Ordonez N, Evans DB, Goepfert H, Khorana S, Schultz P, Richards CS, Gagel RF) J Clin Endocrinol Metab 1996 Oct;81(10):3740-5       186 Citations
1Type 2M:Milwaukee-1 von Willebrand disease: an in-frame deletion in the Cys509-Cys695 loop of the von Willebrand factor A1 domain causes deficient binding of von Willebrand factor to platelets. (Mancuso DJ, Kroner PA, Christopherson PA, Vokac EA, Gill JC, Montgomery RR) Blood 1996 Oct 01;88(7):2559-68       59 Citations
1Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation. (Cochran EJ, Bennett DA, Cervenáková L, Kenney K, Bernard B, Foster NL, Benson DF, Goldfarb LG, Brown P) Neurology 1996 Sep;47(3):727-33       65 Citations
1Hemolytic disease of the newborn caused by anti-M antibody. (Lin SW, Lin DT, Hsieh SW, Hsieh PK, Teng RJ, Tsou KI, Lin KS) J Formos Med Assoc 1996 May;95(5):390-2       5 Citations
1Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2. (Wohllk N, Cote GJ, Evans DB, Goepfert H, Ordonez NG, Gagel RF) Endocrinol Metab Clin North Am 1996 Mar;25(1):1-25       60 Citations
1Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). (Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM) Hum Mol Genet 1995 Aug;4(8):1435-9       60 Citations
1The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. (Guay-Woodford LM, Muecher G, Hopkins SD, Avner ED, Germino GG, Guillot AP, Herrin J, Holleman R, Irons DA, Primack W) Am J Hum Genet 1995 May;56(5):1101-7       162 Citations
1Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. (Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC) Hum Mol Genet 1995 Jan;4(1):9-13       168 Citations
1Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. (Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM) Hum Mol Genet 1994 Aug;3(8):1331-5       195 Citations
1Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. (Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM, Sheffield VC) Nat Genet 1993 Dec;5(4):392-6       159 Citations
1Expression of the human renin gene in transgenic mice throughout ontogeny. (Sigmund CD) Pediatr Nephrol 1993 Oct;7(5):639-45       16 Citations
1Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma. (Johnson AT, Drack AV, Kwitek AE, Cannon RL, Stone EM, Alward WL) Ophthalmology 1993 Apr;100(4):524-9       112 Citations
1Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. (Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WL, Weber JL, Bell GI, Buetow KH) Nat Genet 1992 Sep;2(1):46-9    
1Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets. (Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR) Blood 1992 Apr 15;79(8):2048-55       54 Citations
1Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat. (Petersen MB, Weber JL, Slaugenhaupt SA, Kwitek AE, McInnis MG, Chakravarti A, Antonarakis SE) Hum Genet 1991 Aug;87(4):401-4       15 Citations
1Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. (Lewis JG, Weber JL, Petersen MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, Chakravarti A, Antonarakis SE) Genomics 1990 Oct;8(2):400-2       27 Citations
1Hereditary symphalangism. Association with osteoarthritis. (Krohn KD, Brandt KD, Braunstein E, Mathews V) J Rheumatol 1989 Jul;16(7):977-82       5 Citations
1Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA. (Ginsburg D, Konkle BA, Gill JC, Montgomery RR, Bockenstedt PL, Johnson TA, Yang AY) Proc Natl Acad Sci U S A 1989 May;86(10):3723-7       127 Citations
1Protein C deficiency. A cause of unusual or unexplained thrombosis. (Tollefson DF, Friedman KD, Marlar RA, Bandyk DF, Towne JB) Arch Surg 1988 Jul;123(7):881-4       28 Citations
1An immunogenetic study of suppressor cell activity in autoimmune chronic active hepatitis. (Krawitt EL, Kilby AE, Albertini RJ, Schanfield MS, Chastenay BF, Harper PC, Mickey RM, McAuliffe TL) Clin Immunol Immunopathol 1988 Feb;46(2):249-57       14 Citations
1Immunogenetic studies of autoimmune chronic active hepatitis: HLA, immunoglobulin allotypes and autoantibodies. (Krawitt EL, Kilby AE, Albertini RJ, Schanfield MS, Chastenay BF, Harper PC, Mickey RM, McAuliffe TL) Hepatology 1987;7(6):1305-10       26 Citations
1Severe homozygous protein C deficiency. (Sills RH, Marlar RA, Montgomery RR, Deshpande GN, Humbert JR) J Pediatr 1984 Sep;105(3):409-13       105 Citations
1A variant of von Willebrand's disease with abnormal expression of factor VIII procoagulant activity. (Montgomery RR, Hathaway WE, Johnson J, Jacobson L, Muntean W) Blood 1982 Jul;60(1):201-7       40 Citations
1Hereditary proximal spinal and bulbar motor neuron disease of late onset. A report of six cases. (Barkhaus PE, Kennedy WR, Stern LZ, Harrington RB) Arch Neurol 1982 Feb;39(2):112-6       36 Citations
1Genetic susceptibility to multiple sclerosis: a linkage analysis with age-of-onset corrections. (Haile RW, Hodge SE, Visscher BR, Spence MA, Detels R, McAuliffe TL, Park MS, Dudley JP) Clin Genet 1980 Sep;18(3):160-7       20 Citations