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Publications indexed to the term Pedigree

FacultyTitle
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 03 09;61(3):40       1 Citation
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 01 30;11(1):595       4 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 12;5(6)    
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 09;51(9):1308-1314       5 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 12;60(13):3282-3286       1 Citation
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 05 01;78(5):460-466    
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       13 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 07 02;128(7):3071-3087       29 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 08;4(4)       4 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 06;26(6):797-806       2 Citations
2PITX2 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 05 15;27(10):1675-1695       14 Citations
1Bronchiectasis. (Kelly BT, Knutsen AP, Routes JM) J Allergy Clin Immunol Pract 2018 Jan - Feb;6(1):315-316    
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 11;5(6):678-691       7 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 01;67(1):155-164    
1Identification 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 11;38(11):1485-1490       7 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 08;15(8):1559-1566       4 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       12 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 08;58(8):1963-1967       6 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       6 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       12 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 12 01;48(12):912-921       19 Citations
2Analysis 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       1 Citation
1Case 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       4 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 02;17(2):401-410       7 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 09 01;142(9):866-72       10 Citations
2Whole 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 10;90(4):378-82       5 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 08;135(8):909-917       10 Citations
3The 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 07 15;291(29):14939-53       8 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 07 07;6(7):2073-9       6 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       131 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 05;150(5):1196-1207       44 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       25 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       9 Citations
3A recurrent mutation in PARK2 is associated with familial lung cancer. (Xiong D, Wang Y, Kupert E, Simpson C, Pinney SM, Gaba CR, Mandal D, Schwartz AG, Yang P, de Andrade M, Pikielny C, Byun J, Li Y, Stambolian D, Spitz MR, Liu Y, Amos CI, Bailey-Wilson JE, Anderson M, You M) Am J Hum Genet 2015 Feb 05;96(2):301-8       36 Citations
1Aortopathy in the 7q11.23 microduplication syndrome. (Parrott A, James J, Goldenberg P, Hinton RB, Miller E, Shikany A, Aylsworth AS, Kaiser-Rogers K, Ferns SJ, Lalani SR, Ware SM) Am J Med Genet A 2015 Feb;167A(2):363-70       19 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       32 Citations
1Whole 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       7 Citations
2Quantitative 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       8 Citations
1Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. (Ware SM, Shikany A, Landis BJ, James JF, Hinton RB) Pediatrics 2014 Oct;134(4):e1218-23       6 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 sequencing for familial bicuspid aortic valve identifies putative variants. (Martin LJ, Pilipenko V, Kaufman KM, Cripe L, Kottyan LC, Keddache M, Dexheimer P, Weirauch MT, Benson DW) Circ Cardiovasc Genet 2014 Oct;7(5):677-83       26 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       20 Citations
1Whole 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       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       315 Citations
1Irritable bowel syndrome may be associated with maternal inheritance and mitochondrial DNA control region sequence variants. (van Tilburg MA, Zaki EA, Venkatesan T, Boles RG) Dig Dis Sci 2014 Jul;59(7):1392-7       6 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       105 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       66 Citations
2Outer 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       25 Citations
1Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa. (Acton JH, Greenberg JP, Greenstein VC, Marsiglia M, Tabacaru M, Theodore Smith R, Tsang SH) Exp Eye Res 2013 Aug;113:41-8       23 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       5 Citations
1Calmodulin mutations associated with recurrent cardiac arrest in infants. (Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr) Circulation 2013 Mar 05;127(9):1009-17       202 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       12 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       58 Citations
3Association 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 May-Jun;30(3):379-82       15 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       59 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       41 Citations
1Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. (Park JK, Martin LJ, Zhang X, Jegga AG, Benson DW) Heart Rhythm 2012 Jul;9(7):1090-6       25 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       19 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       122 Citations
1Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, Gadzinski R, Storck M, Wang K, Ryu GY, Jobe SM, Schutte BC, Moseley J, Loughran NB, Parkinson J, Weyrich AS, Di Paola J) Nat Genet 2011 Jul 17;43(8):738-40    
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       68 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       18 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       63 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       16 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       393 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       2 Citations
1Genetic characterization of familial CPVT after 30 years. (Beery TA, Shah MJ, Benson DW) Biol Res Nurs 2009 Jul;11(1):66-72       12 Citations
1Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. (Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW) J Am Coll Cardiol 2009 Mar 24;53(12):1065-71       99 Citations
1A susceptibility locus for papillary thyroid carcinoma on chromosome 8q24. (He H, Nagy R, Liyanarachchi S, Jiao H, Li W, Suster S, Kere J, de la Chapelle A) Cancer Res 2009 Jan 15;69(2):625-31       100 Citations
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       14 Citations
1Quantitative trait loci mapping. (Xiong DH, Liu JF, Guo YF, Guo Y, Yang TL, Jiang H, Chen Y, Yang F, Recker RR, Deng HW) Methods Mol Biol 2008;455:203-35       2 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       41 Citations
1Hypoplastic left heart syndrome is heritable. (Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW) J Am Coll Cardiol 2007 Oct 16;50(16):1590-5       143 Citations
1A whole genome linkage scan for QTLs underlying peak bone mineral density. (Zhang F, Xiao P, Yang F, Shen H, Xiong DH, Deng HY, Papasian CJ, Drees BM, Hamilton JJ, Recker RR, Deng HW) Osteoporos Int 2008 Mar;19(3):303-10       11 Citations
1EGFR-T790M is a rare lung cancer susceptibility allele with enhanced kinase activity. (Vikis H, Sato M, James M, Wang D, Wang Y, Wang M, Jia D, Liu Y, Bailey-Wilson JE, Amos CI, Pinney SM, Petersen GM, de Andrade M, Yang P, Wiest JS, Fain PR, Schwartz AG, Gazdar A, Gaba C, Rothschild H, Mandal D, Kupert E, Seminara D, Viswanathan A, Govindan R, Minna J, Anderson MW, You M) Cancer Res 2007 May 15;67(10):4665-70       76 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       72 Citations
1Genomic regions identified for BMD in a large sample including epistatic interactions and gender-specific effects. (Xiao P, Shen H, Guo YF, Xiong DH, Liu YZ, Liu YJ, Zhao LJ, Long JR, Guo Y, Recker RR, Deng HW) J Bone Miner Res 2006 Oct;21(10):1536-44       51 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       84 Citations
1Familial congenital heart disease, progressive atrioventricular block and the cardiac homeobox transcription factor gene NKX2.5: identification of a novel mutation. (König K, Will JC, Berger F, Müller D, Benson DW) Clin Res Cardiol 2006 Sep;95(9):499-503       24 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       20 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       136 Citations
1Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency. (Hinton RB Jr, Deutsch GH, Pearl JM, Hobart HH, Morris CA, Benson DW) J Heart Valve Dis 2006 May;15(3):352-5       8 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       206 Citations
1Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. (Ballester LY, Benson DW, Wong B, Law IH, Mathews KD, Vanoye CG, George AL Jr) Hum Mutat 2006 Apr;27(4):388       32 Citations
1Genomewide linkage scan for quantitative trait loci underlying variation in age at menarche. (Guo Y, Shen H, Xiao P, Xiong DH, Yang TL, Guo YF, Long JR, Recker RR, Deng HW) J Clin Endocrinol Metab 2006 Mar;91(3):1009-14       45 Citations
1Mapping quantitative trait loci for cross-sectional geometry at the femoral neck. (Shen H, Long JR, Xiong DH, Liu YJ, Liu YZ, Xiao P, Zhao LJ, Dvornyk V, Zhang YY, Rocha-Sanchez S, Liu PY, Li JL, Deng HW) J Bone Miner Res 2005 Nov;20(11):1973-82       24 Citations
1Genome-wide scan for linkage to obesity-associated hypertension in French Canadians. (Pausova Z, Gaudet D, Gossard F, Bernard M, Kaldunski ML, Jomphe M, Tremblay J, Hudson TJ, Bouchard G, Kotchen TA, Cowley AW, Hamet P) Hypertension 2005 Dec;46(6):1280-5       42 Citations
1Improvement of mapping accuracy by unifying linkage and association analysis. (Lou XY, Ma JZ, Yang MC, Zhu J, Liu PY, Deng HW, Elston RC, Li MD) Genetics 2006 Jan;172(1):647-61       5 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
1Polymorphic ventricular tachycardia and KCNJ2 mutations. (Chun TU, Epstein MR, Dick M 2nd, Andelfinger G, Ballester L, Vanoye CG, George AL Jr, Benson DW) Heart Rhythm 2004 Jul;1(2):235-41       46 Citations
1Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations. (Shooner KA, Rope AF, Hopkin RJ, Andelfinger GU, Benson DW) J Pediatr 2005 Mar;146(3):382-7       16 Citations
1Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. (Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J) J Clin Endocrinol Metab 2005 Mar;90(3):1323-31       69 Citations
1Genetic dissection of human stature in a large sample of multiplex pedigrees. (Liu YZ, Xu FH, Shen H, Liu YJ, Zhao LJ, Long JR, Zhang YY, Xiao P, Xiong DH, Dvornyk V, Li JL, Conway T, Davies KM, Recker RR, Deng HW) Ann Hum Genet 2004 Sep;68(Pt 5):472-88       30 Citations
1A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27. (Shen H, Zhang YY, Long JR, Xu FH, Liu YZ, Xiao P, Zhao LJ, Xiong DH, Liu YJ, Dvornyk V, Rocha-Sanchez S, Liu PY, Li JL, Conway T, Davies KM, Recker RR, Deng HW) J Med Genet 2004 Oct;41(10):743-51       50 Citations
1Quantifying the relationship between gene expressions and trait values in general pedigrees. (Lu Y, Liu PY, Liu YJ, Xu FH, Deng HW) Genetics 2004 Dec;168(4):2395-405       5 Citations
1An intronic mutation causes long QT syndrome. (Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I) J Am Coll Cardiol 2004 Sep 15;44(6):1283-91       54 Citations
1Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. (Kasahara H, Benson DW) Cardiovasc Res 2004 Oct 01;64(1):40-51       80 Citations
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       27 Citations
1Kindler syndrome in native Americans from Panama: report of 26 cases. (Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, Frieden IJ) Arch Dermatol 2004 Aug;140(8):939-44       59 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       33 Citations
1Haplotype analysis enables the diagnosis of Marfan syndrome. (Basel D, Kilpatrick MW, Tsipouras P) Conn Med 2004 Jun-Jul;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       24 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       34 Citations
1Bicuspid aortic valve is heritable. (Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW) J Am Coll Cardiol 2004 Jul 07;44(1):138-43       406 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       56 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       39 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       24 Citations
1A candidate locus approach identifies a long QT syndrome gene mutation. (Beery TA, Dyment M, Shooner K, Knilans TK, Benson DW) Biol Res Nurs 2003 Oct;5(2):97-104       4 Citations
1Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. (Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH) Am J Hum Genet 2003 Jul;73(1):174-87       238 Citations
1Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. (Andelfinger G, Wright KN, Lee HS, Siemens LM, Benson DW) J Med Genet 2003 May;40(5):320-4       63 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       200 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       18 Citations
1Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. (Johnson WH Jr, Yang P, Yang T, Lau YR, Mostella BA, Wolff DJ, Roden DM, Benson DW) Pediatr Res 2003 May;53(5):744-8       30 Citations
1A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. (Viswanathan PC, Benson DW, Balser JR) J Clin Invest 2003 Feb;111(3):341-6       196 Citations
1Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. (Watanabe Y, Benson DW, Yano S, Akagi T, Yoshino M, Murray JC) J Med Genet 2002 Nov;39(11):807-11       80 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       5 Citations
1KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. (Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW) Am J Hum Genet 2002 Sep;71(3):663-8       190 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       345 Citations
1Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. (Arad M, Benson DW, Perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE) J Clin Invest 2002 Feb;109(3):357-62       414 Citations
1NKX2.5 mutations in patients with tetralogy of fallot. (Goldmuntz E, Geiger E, Benson DW) Circulation 2001 Nov 20;104(21):2565-8       263 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       192 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       545 Citations
1Evidence for autosomal recessive inheritance of infantile dilated cardiomyopathy: studies from the Eastern Province of Saudi Arabia. (Seliem MA, Mansara KB, Palileo M, Ye X, Zhang Z, Benson DW) Pediatr Res 2000 Dec;48(6):770-5       16 Citations
1The Gordon syndrome revisited. (Basel D, Sobey G, Gardner J, Beighton P) S Afr Med J 2000 Sep;90(9):864-7       1 Citation
1Linkage and candidate gene analysis of autosomal-dominant familial exudative vitreoretinopathy. (Shastry BS, Hejtmancik JF, Hiraoka M, Ibaraki N, Okubo Y, Okubo A, Han DP, Trese MT) Clin Genet 2000 Oct;58(4):329-32       15 Citations
1Advances in cardiovascular genetics and embryology: role of transcription factors in congenital heart disease. (Benson DW) Curr Opin Pediatr 2000 Oct;12(5):497-500       11 Citations
3Blood 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       82 Citations
1Role of tumor necrosis factor-alpha gene locus in obesity and obesity-associated hypertension in French Canadians. (Pausova Z, Deslauriers B, Gaudet D, Tremblay J, Kotchen TA, Larochelle P, Cowley AW, Hamet P) Hypertension 2000 Jul;36(1):14-9       87 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       209 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       44 Citations
111-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. (Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC) Mol Vis 1999 Dec 30;5:41       59 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       45 Citations
1Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. (Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD) J Clin Invest 1999 Dec;104(11):1567-73       476 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       181 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 Sep-Oct;36(5):287-91    
1Electrophysiologic characteristics of accessory atrioventricular connections in an inherited form of Wolff-Parkinson-White syndrome. (Mehdirad AA, Fatkin D, DiMarco JP, MacRae CA, Wase A, Seidman JG, Seidman CE, Benson DW) J Cardiovasc Electrophysiol 1999 May;10(5):629-35       37 Citations
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       68 Citations
1Familial dilated cardiomyopathy locus maps to chromosome 2q31. (Siu BL, Niimura H, Osborne JA, Fatkin D, MacRae C, Solomon S, Benson DW, Seidman JG, Seidman CE) Circulation 1999 Mar 02;99(8):1022-6       110 Citations
1Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. (Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL) J Clin Endocrinol Metab 1999 Feb;84(2):504-11       128 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 May-Jun;6(3):251-6       17 Citations
1Congenital heart disease caused by mutations in the transcription factor NKX2-5. (Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG) Science 1998 Jul 03;281(5373):108-11       986 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       313 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       8 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       184 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       79 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       117 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
1Valproate-induced liver failure in one of two siblings with Alpers disease. (Schwabe MJ, Dobyns WB, Burke B, Armstrong DL) Pediatr Neurol 1997 May;16(4):337-43       33 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       63 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       65 Citations
2E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (Kirby-Keyser L, Porter CC, Donohoue PA) Hum Mutat 1997;9(2):181-2       12 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       58 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       58 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       173 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       57 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
1Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. (Kyllo JH, Collins MM, Vetter KL, Cuttler L, Rosenfield RL, Donohoue PA) Am J Med Genet 1996 Mar 29;62(3):262-7       22 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       55 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       54 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       142 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       159 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       181 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       147 Citations
1Expression of the human renin gene in transgenic mice throughout ontogeny. (Sigmund CD) Pediatr Nephrol 1993 Oct;7(5):639-45       15 Citations
1Neonatal alloimmune thrombocytopenia due to a new platelet-specific alloantibody. (McFarland JG, Blanchette V, Collins J, Newman PJ, Wang R, Aster RH) Blood 1993 Jun 15;81(12):3318-23       25 Citations
1Dysfunctional protein C deficiency (type II). A report of 11 cases in 3 American families and review of the literature. (Berdeaux DH, Abshire TC, Marlar RA) Am J Clin Pathol 1993 Jun;99(6):677-86       14 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       91 Citations
1Electro-oculography in autosomal dominant vitreoretinochoroidopathy. (Han DP, Lewandowski MF) Arch Ophthalmol 1992 Nov;110(11):1563-7       26 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    
2Expressed 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       46 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       12 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       17 Citations
1Hereditary symphalangism. Association with osteoarthritis. (Krohn KD, Brandt KD, Braunstein E, Mathews V) J Rheumatol 1989 Jul;16(7):977-82       4 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       96 Citations
1Probable genetic linkage between genes coding for platelet-specific antigens of the PlA and Bak systems. (Letellier SJ, Hunter JB, Aster RH) Am J Hematol 1988 Nov;29(3):139-43       8 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       25 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
1Restriction fragment analysis of duplication of the fourth component of complement (C4A). (McLean RH, Donohoue PA, Jospe N, Bias WB, Van Dop C, Migeon CJ) Genomics 1988 Jan;2(1):76-85       9 Citations
1Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish. (Donohoue PA, Van Dop C, Migeon CJ, McLean RH, Bias WB) J Clin Endocrinol Metab 1987 Nov;65(5):980-6       6 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 Nov-Dec;7(6):1305-10       23 Citations
1Evaluation of phenotypic similarities between Stargardt flavimaculatus and retinal pigment epithelial pattern dystrophies. (Aaberg TM, Han DP) Trans Am Ophthalmol Soc 1987;85:101-19       13 Citations
1Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. (Donohoue PA, van Dop C, McLean RH, White PC, Jospe N, Migeon CJ) J Clin Endocrinol Metab 1986 May;62(5):995-1002       96 Citations
1Men I syndrome and islet cell lesions of the pancreas. (Dodds WJ, Wilson SD, Thorsen MK, Stewart ET, Lawson TL, Foley WD) Semin Roentgenol 1985 Jan;20(1):17-63       8 Citations
1Severe homozygous protein C deficiency. (Sills RH, Marlar RA, Montgomery RR, Deshpande GN, Humbert JR) J Pediatr 1984 Sep;105(3):409-13       89 Citations
1Familial leukemia and aplastic anemia associated with monosomy 7. (Chitambar CR, Robinson WA, Glode LM) Am J Med 1983 Nov;75(5):756-62       21 Citations
1Choroidal malignant melanoma in siblings. (Simons KB, Hale LM, Morrison HM Jr, Eifrig DE, Peiffer RL Jr) Am J Ophthalmol 1983 Nov;96(5):675-80    
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       33 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       35 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
1Prognostic value of antibody-dependent assays for presensitization in bone marrow transplant recipients. (Parkman R, Rappeport J, Camitta B, Levey R, Rosen FS) Transplant Proc 1978 Mar;10(1):71-3       3 Citations
1Expression of HLA-B12, HLA-B8, w4, and w5 on platetelets. (Aster RH, Szatkowski N, Liebert M, Duquesnoy RJ) Transplant Proc 1977 Dec;9(4):1695-6       27 Citations
1A new variant of blood group B. (Zelenski SK, Litsenberger B, Aster RH) Vox Sang 1974 Feb;26(2):189-93       3 Citations
jenkins-FCD Prod-480 9a4deaf152b0b06dd18151814fff2e18f6c05280