Publications

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Lasted updated: May, 2020

  • Hussain S, Nawaz S, Khan H, Acharya A, Schrauwen I, Ahmad W, Leal SM (2020) A splice site variant in TCTN3 underlies orofaciodigital syndrome IV. (submitted)
  • Schrauwen I, Liaqat K, Bharadwaj T, Nasir A, Acharya A, Ahmad W, Leal SM (2020) An Autosomal Dominantly inherited variant in GREB1L causes profound sensorineural hearing impairment (submitted)
  • Hirsch S, Elling C, Bootpetch Roberts TC, Scholes MA, Hafrén L. Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Elisabet Einarsdottir E, Yousaf A, Baschal EE, Sakina Rehman S, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Riazuddin S, Leal SM, Ahmed ZM, Yoon PJ, Kere J, Chan KH, MattilaPS, Norman R. Friedman NR, Chonmaitree T, Frank DN, Ryan AF, Santos-Cortez RLP (2020) The role of CDHR3 in susceptibility to otitis media (submitted)
  • Bootpetch Roberts TC, Hafrén L, Elling CL, Bascha EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A, University of Washington Center for Mendelian Genomics, Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Michele M. Sale MM, Chonmaitree T, Cortez-Santos RLP (2020) Multi-omic studies on rare, missense PLG variants in families with otitis media (submitted)
  • Zhang Z, Zhao L, Barral Rodriguez SM, Zhang D, Vardarajan BN, Renton AE, Goate AM, Mayeux R, Wang GT, Leal SM (2020) A rare-variant family-based score test for quantitative traits with application to age-at-onset for Alzheimer’s disease in pedigrees with whole-genome sequence data. (submitted)
  • Magno JPM, Bootpetch-Roberts TC, Llanes EGDV, Pedro M, Rosanes RAQ, Santos RAP, Santos ATR, Lagrana-Villagracia SM, Yarza TKL, Steritz MJ, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Gloria-Cruz TLI, Abes GT, Chan AL, Cutiongco-de la Paz EM, Leal SM, Tantoco MLC, Quintos MRRT, Chiong CM, Santos-Cortez RLP (2020) Gingivitis and A2ML1-related otitis media in 50 indigenous Filipinos. (submitted)
  • Zhao L, Zhang Z, Barral Rodriguez SM, Vardarajan BN, Alan E. Renton AE, Alison M. Goate AM, Richard M, Wang GT, Leal SM (2020) A quantitative trait rare variant nonparametric linkage method with application to the analysis of age-at-onset of Alzheimer’s Disease in pedigrees with WGS data. European Journal of Human Genetics (in press)
  • Frank DN, Giese APJ, Hafrén L, Roberts TB, Yarza TKL, Steritz MJ, Pedro M, Labra PJ, Daly KA, Tantoco MLC, Szeremeta W, Reyes-Quintos MRT, d.V. Llanes EG, Pine HS, Yousaf S, Ir D, Lagrana-Villagracia SM, Einarsdottir E, de la Cruz RAR, Lee NR, Nonato RMA, Robertson CE, Ong KMC, Magno JPM, Abbe I, Chiong ANE, Espiritu-Chiong MC, San Agustin ML, University of Washington Center for Mendelian Genomics, Gloria-Cruz TLI, Abes GT, Bamshad MJ, Cutiongco-de la Paz EM, Kere J, Nickerson DA, Riazuddin S, Chan AL, Mohlke KL, Mattila PS, Sale MM, Leal SM, Ahmed ZM, Chonmaitree T, Chiong CM, Santos-Cortez RLP (2020) SPINK5 variants confer susceptibility to autosomal dominant non-syndromic otitis media Journal of Medical Genetics (in press)
  • Gomez-Lopera N, Alfaro JM, Rodriguez A, Ramirez A, Leal SM, Pineda-Trujillo N (2020) A non-coding RNASEH1 gene variant associates with Type 1 diabetes and interacts with HLA tagSNPs in families from Colombia. Pediatric Diabetes (in press) PMID: 32447804
  • Szalai R, I. Schrauwen I, Leal SM, Melegh B, Hadzsiev K (2020) Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings. Experimental and Molecular Pathology (in press) PMID: 32446860
  • Kari E, Kari E, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Liang W, Friedman RA, Schrauwen I (2020) Genes implicated in rare congenital inner ear and cochleovestibular nerve malformations. Ear and Hear (in press) PMID: 31985533
  • Beck DB, Petracovici A, He C, Moore HW, Louie R, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson R, Banka S, Bonasio R, Fahrner JA (2020) Delineation of the First Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. American Journal of Human Genetics Feb 6 106(2); 234-45. PMID: 31928709; PMC7010978
  • Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM (2020) Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment. Journal of Human Genetics Jan;65(2):187-92. PMID: 31656313
  • Gomez-Lopera N, Alfaro JM, Leal SM, Pineda-Trujillo N. (2019) Type 1 diabetes loci display a variety of native American and African ancestries in diseased individuals from Northwest Colombia. World Journal of Diabetes. Nov 15;10(11):534-545. PMID: 31798789; PMC6885725
  • 2 Kari E, Llaci L, Go JL, Naymik M, Knowles JA, Leal SM, Rangasamy S, Huentelman MJ, Friedman RA, Schrauwen I (2019) A de novo SIX1 variant in a patient with a rare non-syndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss. Molecular Genetics & Genomic Medicine Oct 8:e995. doi: 10.1002/mgg3.99. PMID:31595699; PMC6900394
  • Zhao L, He Z, Zhang D, Wang GT, Renton AE, Vardarajan BN, Nothnagel M, Goate AM, Mayeux R, Leal SM (2019) A rare variant nonparametric linkage method for nuclear and extended pedigrees with application to late-onset Alzheimer’s Disease using whole genome sequence data. American Journal of Human Genetics Oct 3;105(4):822-835. PMID: 31585107; PMC6817540
  • Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM (2019) Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. European Journal of Human Genetics Sep;27(9):1456-1465. PMID:31053783; PMC6777454
  • Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics, Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, Santos-Cortez RLP. (2019) A2ML1 and otitis media: novel variants, differential expression and relevant pathways. Human Mutation Aug;40(8):1156-1171. PMID: 31009165; PMC6711784
  • Cornejo-Sánchez DM, Carrisoza-Moog J, Cabrera-Hemer D, Solarte-Mila R, Cornejo Ochoa W, Leal SM, Pineda-Trujillo N (2019) Sleepwalking and sleep paralysis: High prevalence in Colombian families with genetic generalized epilepsy. Journal of Child Neurology Aug; 34(9):491-498. PMID: 31012364
  • Lindquist NR, Appelbaum EN, Acharya A, Vrabec JT, Leal SM, Schrauwen I (2019) A start codon variant in NOG underlies symphalangism and ossicular chain malformations affecting both the incus and stapes. Case Report in Genetics Jul 22:2836263 PMID: 31428484; PMC6679842
  • Imai A, Li Y, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Leal SM, Lathrop M, Ott J (2019) Heterozygosity mapping for dominant trait variants. Human Mutation Jul;40(7):996-1004 PMID: 31018026; PMC6617796
  • Irfanullah, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele T, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM (2019) Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human Genetics Jun;138(6):593-600. PMID: 30982135; PMC6724712
  • Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karos T, Bene J, Melegh B, Leal SM (2019) Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. European Journal of Human Genetics Jun; 27(6):869-878 PMID: 30872814; PMC6777543
  • Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Bert Callewaert B, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Montalcino Aortic Consortium, Boileau C, Backer JD, Jondeau G, Milewicz DM (2019) SMAD3 pathogenic variants: Risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Journal of Medical Genetics Apr;56(4):252-260. PMID: 30661052
  • Schrauwen I, Giese APJ, Chakchouk I, Lafont DT, Santos-Cortez RLP, Lee K, Acharya A, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Aziz A, Ansar M, Riazuddin S, Ali G, Ahmad W, Ahmed ZM, Leal SM (2019) FAM92A underlies non-syndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice. Journal of Bone and Mineral Research (JBMR) Feb;34(2):375-386 PMID:30395363; PMC6489482
  • Rabia F Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir M, Allama I. Bandesha, A, Ali Khan A, Rehman A, Brewer C, Ahmad W, Leal SM, Riazuddin S, Boyden S, Friedman T (2019) Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Human Mutation Feb;40(2):162-176 PMID: 30461122; PMC6328321
  • Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Irfanullah, Shah K, Ahmad W, Leal SM (2019) Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals clinical significance. Journal of Human Genetics Feb;64(2):153-160 PMID: 30498240; PMC6561484
  • He Z, Wang L, DeWan AT, Leal SM (2019) MendelProb: Probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics Feb 1;35(3):529-531 PMID: 30032240; PMC6397596
  • Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Montalcino Aortic Consortium, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM (2019) MYLK mutations: aortic disease presentation, pregnancy risk and characterization of pathogenic missense variants. Genetic Medicine Jan;21(1):144-151 PMID:29925964; PMC6400320
  • Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, Nelson SC, Sinnott-Armstrong NA, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Bamia C, Banbury B, Baron JA, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Butterbach K, Bette J Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chirlaque M-J, Cho SH, Connolly C, Cross AJ, Cuk K, Curtis KR, de la Chapelle A, Doheny KF, Duggan D, Easton DF, Elias SG, Elliott F, English DR, Feskens EJM, Figueiredo JC, Fischer R, FitzGerald LM, Forman D, Gala M, Gallinger SJ, Gauderman W, Giles GG, Gillanders E, Gong J, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hampell H, Harlid S, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Hsu W-L, Huang W-Y, Hudson TJ, Hunter DJ, Ibañez-Sanz G, Idos GE, Ingersoll R, Jackson R, Jacobs EJ, Jenkins MA, Joshi AD, C Joshu CE, Keku TO, Key TJ, Kim HR, Kobayashi E, Kolonel LN, Kooperberg C, Kuhn T, Küry S, Kweon S-S, Larsson SC, Laurie CA, Le Marchand L, Leal SM, Lee SC, Lejbkowicz F, Lemire M, Li CI, Li L, Lieb W, Lin Y, Lindblom A, Lindor NM, Ling H, Louie TL, Männistö S, Markowitz SD, Martín V, Masala G, McNeil CE, Melas M, Milne RL, Moreno L, Murphy N, Myte R, Naccarati A, Newcomb PA, Offit K, Ogino S, Onland-Moret NC, Pardini B, Parfrey PS, Pearlman R, Perduca V, Pharoah PDP, Pinchev M, Platz EA, Prentice RL, Pugh E, Raskin L, Rennert G, Rennert HS, Riboli E, Rodríguez-Barranco M, Romm J, Sakoda LC, Schafmayer C, Schoen RE, Seminara D, Shah M, Shelford T, Shin M-H, Shulman K, Sieri S, Slattery ML, Southey MC, Stadler ZK, Stegmaier C, Su Y-R, Tangen CM, Thibodeau SN, Thomas DC, Thomas SS, Toland AE, Trichopoulou A, Ulrich CM, Van Den Berg DJ, van Duijnhoven FJB, Van Guelpen B, van Kranen H, Vijai J, Visvanathan K, Vodicka P, Vodickova L, Vymetalkova V, Weigl K, Weinstein SJ, White E, Win AK, Wolf CR, Wolk A, Woods MO, Wu AH, Zaidi ZH, Zanke BW, Zhang Q, Zheng W, Scacheri PC, Potter JD, Bassik MC, Kundaje A, Casey G, Moreno V, Abecasis GR, Nickerson DA, Gruber SB, Li HL, Peters U (2019) Discovery of common and rare genetic risk variants for colorectal cancer. Nature Genetics Jan;51(1):76-87 PMID: 0510241; PMC6358437
  • Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M,Liaqat K, Bamshad MJ, Nickerson DA, University of Washington Center for Mendelian Genomics, Schrauwen I, Khan SN, Morell RJ, Waryah AM, Ansar M, Ahmed ZM, Ahmad W, Riazuddin Sh, Friedman TB*, Leal SM*, Riazuddin *Co-corresponding authors (2019) Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human Mutation
    Jan;40(1):53-72. PMID: 30303587; PMC6296877
  • Liaqat K, Chui I, Lee K, Chakchouk I, Andrade- Elizondo P, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM (2018). Novel autosomal recessive nonsyndromic impairment missense and 3’-UTR-splicing site variants in LHFPL5. Journal of Human Genetics Nov;63(11):1099-1107. PMID: 30177809; PMC6202120
  • Santos-Cortez RLP, Sale MM, Frank DN, Steritz MJ, d.V. Llanes EG, Roberts TB, Giese AP, Tantoco MLC, Szeremeta W, Pedro PMM, Mayol NL, Yarza TKL, Pine H, Daly KA, Labra PJ, Scholes MA, Jeanne Benoit, Einarsdóttir HE, Amanda Ruiz, Rhodieleen Anne R. de la Cruz, Lagrana-Villagracia SM, Greenlee C, Nonato RMA, Prager JD, Ong KMC, Ray D, Robertson CE, Cass SP, Gloria-Cruz MTL, Cutiongco-de la Paz EM, University of Washington Center for Mendelian Genomics (UWCMG), Wine TM, GeAbes GT, Bamshad, MJ Chan AL, Streubel S-O, Nickerson DA, Riazuddin S, Kere J, Ma. Reyes-Quintos MRT, Chan KH, Mohlke, KL Leal SM, Ryan AF Ahmed ZM, Hafrén L, Chiong CM, Chonmaitree T (2018) FUT2 variants and familial otitis media. American Journal of Human Genetics Nov 1;103(5):679-690 PMID: 30401457; PMC6217759
  • Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM (2018) Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Human Genetics Sep;137(9):735-752. PMID: 30167849; PMC6201268
  • Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Ahmad W, Ansar M, Leal SM (2018) Confirmation of the role of DHX38 in the etiology of early-onset retinitis pigmentosa.Investigative Ophthalmology & Visual Science Sep 4;59(11):4552-4557 PMID: 30208423; PMC6133250
  • Chiong CM, Reyes-Quintos MRT, Yarza TKL, Tobias-Grasso CAM, Acharya A, Leal SM, Mohlke K, Mayol NLM, Santos-Cortez RLP (2018) The SLC26A4 c.706C>G (p.Leu236Val) variant is a frequent cause of hearing impairment in Filipino cochlear implantees. Otology & Neurotology Sep;39(8):e726-e730 PMID: 30113565; PMC6097524
  • 208. Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM (2018) A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Human Genetics Jul;137(6-7):471-478. PMID: 29971487; PMC6094940
  • Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Irfanullah, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM (2018) Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment BMC Medical Genetics Jul 20;19(1):122. PMID:30029624; PMC6053831
  • Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W. (2018) A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. European Journal of Dermatology 28(2):209-216. PMID: 29611532
  • Ullah A, Umair M, Muhammad D, Bilal M, Leal SM, Ahmad W (2018) A Novel Homozygous Variant in BMPR1B Underlies Acromesomelic Dysplasia Hunter-Thompson type Annals of Human Genetics 82(3):129-134 PMID: 29322508; PMC6141004
  • Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace S, University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM (2018) LTBP3 pathogenic variants predispose to thoracic aortic aneurysms and dissections. American Journal of Human Genetics. 102(4):706-712. PMID: 29625025; PMC5985335
  • Khan S, Ansar M, Kamal Khan A, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM*, Ahmad W* (2018) Homozygous Missense Mutation in SLC25A16 is associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family. British Journal of Dermatology. 178(2):556-558 PMID: 28504827; PMC5685937 *Co-corresponding authors
  • Guo DC, Hostetler EM, Fan Y, Kulmacz RJ, Zhang D; GenTAC Investigators, Nickerson DA, Leal SM, LeMaire SA, Regalado ES, Milewicz DM. (2017) Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. Journal of the American College of Cardiology 70:2728-30. PMID: 29169482; PMC5090260
  • Bien SA, Auer PL, Harrison TA, Qu C, Connolly CM, Greenside PG, Chen S, Berndt SI, Bézieau S, Kang HM, Huyghe J, Brenner H, Casey G, Chan AT, Hopper JL, Banbury BL, Chang-Claude J, Chanock SJ, Haile RW, Hoffmeister M, Fuchsberger C, Jenkins MA, Leal SM, Lemire M, Newcomb PA, Gallinger S, Potter JD, Schoen RE, Slattery ML, Smith JD, Le Marchand L, White E, Zanke BW, Abeçasis GR, Carlson CS, Peters U, Nickerson DA, Kundaje A, Hsu L; GECCO and CCFR. (2017) Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. PLoS One. 12: e0186518. PMID: 29161273; PMC5697874
  • Shah K, Mehmood S, Jan A, Abbe I, Ali RH, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM*, Ahmad W* (2017) Sequence variants in nine different genes underlying rare skin disorders in ten consanguineous families. British Journal of Dermatology 56:1406-13 PMID: 28504827; PMC6094939 *Co-corresponding authors
  • Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Minuk F, Tao J, Kanaujiya J, Ademola S, Fadiora S, Odesina V, University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Olaita PB, Oluwatosin OM, Leal SM, Reichenberger EJ (2017) Identification of ASAH1 as a susceptibility gene for familial keloids. European Journal of Human Genetics 25(10):1155-1161 PMID:28905881; PMC5602022
  • Zhang D, Zhao L, Li B, He Z, Wang GT, Liu DJ, Leal SM (2017) SEQSpark: A complete analysis tool for large-scale rare variant association studies using whole genome and exome sequence data. American Journal of Human Genetics 101 (1):115-122 PMID: 28669402; PMC5501866
  • He Z, Zhang D, Renton AE, Li B, Zhao L, Wang GT, Goate AM, Mayeux R, Leal SM (2017) The rare variant generalized disequilibrium test for association analysis of nuclear and extended pedigrees with application to Alzheimer’s Disease WGS data. American Journal of Human Genetics 100(2):193-204 PMID: 28065470; PMC5294711
  • Santos-Cortez RLP, Ajami NJ, Reyes-Quintos MTA, Tantoco MLC, Labra PJ, Lagrana SM, Pedro M, Llanes EGdV, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EV, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM (2016) Carriage of an A2ML1 duplication variant that confers susceptibility to otitis media influences the middle ear microbiome. Infectious Diseases of Poverty 5:97 PMID 27799062; PMC5088646
  • Auer PL, Reiner AP, Wang GT, Abecasis GR, Altshuler D, Bamshad MJ, Nickerson DA, Tracy RP, Rich SS, NHLBI GO Exome Sequencing Project, Leal SM (2016) Guidelines for large-scale sequence-based complex trait association studies: Lessons learned from the NHLBI Exome Sequencing Project. American Journal of Human Genetics 6;99(4):791-801 PMID: 27666372;PMC5065683
  • Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB. (2016) Mutational spectrum of MYO15A and the molecular mechanisms of DFNB3 human deafness. Human Mutation 37(10):991-1003 PMID: 27375115; PMC5021573
  • Santos-Cortez RL, Reyes-Quintos MR, Tantoco ML, Abbe I, Llanes EG, Ajami NJ, Hutchinson DS, Petrosin JF, Padilla CD, Villarta RL Jr, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Chiong, CM, Leal SM, Abes GT (2016) Genetic and environmental determinants of otitis media in an indigenous Filipino population. Otolaryngology Head Neck Surgery 155:856-862 PMID: 27484237; PMC5093071
  • Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian M, Wang X, Lewin M, Towbin JA, D’Alessandro L, Morris S, Dreyer W, Denfield S, Ayres NA, Franklin WJ, Justino H, Lantin-Hermoso MR, Ocampo EC, Santos AB, Parekh D, Moodie D, Jeewa A, Lawrence E, Allen HD, Penny DJ, Fraser CD, Lupski JR, Poopola M, Wahdwa L, Brook D, Bhattacharya S, Lalani S, Zender GA, Fitzgerald-Butt S, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship J, Garg V, Keavney BG, Leal SM, Cordell HJ, Belmont JW, McBride KL (2016) A genome wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Human Molecular Genetics 25:2331-2341 PMID: 26965164; PMC5081047
  • Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A; University of Washington Center for Mendelian Genomics, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL,Leal SM*, Ahmad W* (2016) A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. Journal of the American Academy of Venereology 30:e210-e213 PMID: 26691440; PMC5093081 *Co-corresponding authors
  • Lebeko K, Noubiap JJN, Dandara C, Santos-Cortez RLP, Leal SM, Smith R, Wonkam A (2016) Targeted genomic enrichment and massively parallel sequencing identify genetic causes of hearing impairment in Cameroonian families in sub-Saharan Africa. Clinical Genetics 90:288-90 PMID: 27246798; PMC5324826
  • van ’t Hof FN, Ruigrok YM, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn J, Böttinger EP, Bown MJ, Broderick J, Bijlenga P; Carrell DS, Dana C. Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Fornage M, Foroud T, von und zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Harrison SC, Hernesniemi J, Hofman A, IInoue I, Jääskeläinen JE, Jones GT, Kiemeney LALM, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, Low S-L, Malinowski J, McCarty CA, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Ritchie MJ, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Torvik-Rasmussen L, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Gao T. Wang GT, AAA Consortium; Vascular Research Consortium of New Zealand, Rinkel GJE, de Bakker PIW (2016) Shared genetic risk factors of intracranial, abdominal and thoracic aneurysms. Journal of the American Heart Association e002603 PMID: 27418160; PMC5015357
  • Du M, Jiao S, Bien SA, Gala M, Abecacis G, Bezieau S, Brenner H, Butterbach K, Caan BJ, Carlson CS, Casey G, Chang-Claude J, Conti DV, Curtis KR, Duggan D, Gallinger S, Haile RW, Harrison TA, Hayes RB, Hoffmeister M, Hopper JL, Hudson TJ, Jenkins MA, Küry S, Le Marchand L,Leal SM, Newcomb PA, Nickerson DA, Potter JD, Schoen RE, Schumacher FR, Seminara D, Slattery ML, Hsu L, Chan AT, White E, Berndt SI, Peters U (2016) Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants. PLoS One e0157521 PMID: 27379672; PMC4933364.
  • Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Milewicz DM (2016) Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clinical Genetics 89:719-23 PMID: 26621581; PMC4873375
  • Ansar M, Jan A, Santos-Cortez RLP, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD, University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad MJ, Ahmad W, Leal SM (2016) Expansion of the Spectrum of ITGB6 related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disabilities. European Journal of Human Genetics 24:1223-7 PMID: 26695873; PMC4970676
  • Auer PL, Rainer AP. Leal SM (2016) The effect of phenotypic outliers and non-normality on rare-variant association testing. European Journal of Human Genetics 24:1188-94. PMID: 26733287; PMC4970685
  • Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Ellis J, Cupples LA, Chen Y-D I, Dupuis J, Fox C, Gross MD, Smith JD, Heard-Costa N, Meigs JB, Pankow JS, Rotter JR, Siscovick D, Wilson JG, Shendure J, Jackson R, Peters U, Whitsel E, Zhong H, Lin D, Hsu L, Franceschini N, Carlson C, Abecasis G, Gabriel S, Bamshad MJ, Altshuler D, Nickerson DA, North KE, Lange LA, Reiner AP, NHLBI-Exome Sequencing Project, Leal SM (2016) Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. European Journal of Genetics 24:1181-7 PMID: 26757982; PMC4970686
  • Brandler WM, Antaki D, Gujral M, Noor A, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo J, Gadomski TE, Hong O, Fuentes Fajardo KV, Bhandari A, Owen RX, Baughn MW, Yuan, JE, Solomon T, Moyzis AG, Malle MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomof N, Leal SM, Pierce KL, Courchesne E, Iakoucheva LM, Corsello C, Sebat J (2016) ­­Frequency and complexity of de novo structural mutation in autism. American Journal of Human Genetics 98:667-79. PMID:27018473; PMC4833290
  • Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RLP, Zhao R, Cai B, Hostetler EM, Jondeau G, Boileau C, Moran R, Liang D, Estrera A, Safi H, University of Washington Center for Mendelian Genomics, Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Milewicz DM (2016) LOX mutations predispose to thoracic aortic aneurysms and dissections. Circulation Research 118:928-34. PMID: 26838787; PMC4839295
  • Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RLP, Dost Muhammad, Ali M, Zia M, Ayub M, Khan S, University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Leal SM*, Ahmad W* (2016) Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. International Journal of Dermatology 55:524-30 PMID: 26578203; PMC5090260 *Co-corresponding authors
  • Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Peters AM, Duan XY, GenTAC Investigators, National Heart, Lung, and Blood Institute Go Exome Sequencing Project; Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong XR, Swindell E, Leal SM, Majesky MW, Jamrich M, Milewicz DM (2016) FOXE3 suppresses Klf4 expression in neural crest derived aortic smooth muscle cells to prevent p53 dependent apoptosis and thoracic aortic dissections. The Journal of Clinical Investigation 126:948-61. PMID: 26854927; PMC4767350
  • Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Li B, University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad M, Santos-Cortez RLP, Leal SM*, Ahmad W* (2016) Mitral regurgitation: a new phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a novel splice variant in MPLKIP. *Co-corresponding authors BMC Medical Genetics 17(1):13 PMID: 26880286; PMC4754937
  • Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Ansar M, Xang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ Shahzad S, Raza SI, Bashir Z, Smith JD, Nickerson DA, Bamshad MJ, Shendure J, University of Washington Center for Mendelian Genomics, Riazuddin S, Ahmad W, Friedman TB, Leal SM (2016) Autosomal recessive hearing impairment is due to rare missense variants within S1PR2. American Journal of Human Genetics 98:331-8 PMID: 26805784; PMC4746333
  • Wang GT, Zhang D, Li B, Dai H, Leal SM (2015) Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. European Journal of Human Genetics 23:1739-43 PMID: 25873013; PMC4795207
  • Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, University of Washington Center for Mendelian Genomics, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RLP, Ahmad W, Leal SM (2015) A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. Journal of Medical Genetics 52:676-80 PMID: 26160856; PMC5090258
  • Li B, Wang GT, Leal SM (2015) Generation of sequence-based data for pedigree-segregating Mendelian or complex traits. 31:3706-8 Bioinformatics PMID: 26177964; PMC4757949
  • Santos-Cortez RLP, Chiong CM, Reyes-Quintos MRT, Tantoco MLC, Wang X, Acharya A, Abbe I, Giese AP, Allen EK, Smith JD, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EGDV, Labra PJ, Gloria-Cruz TLI, Chan AL, Wang GT, Daly KA, University of Washington Center for Mendelian Genomics, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM, Chonmaitree T, Ahmed ZM, Abes GT, Leal SM (2015) Rare A2ML1 variants confer susceptibility to otitis media. Nature Genetics 47:917-20 PMID: 26121085; PMC4528370
  • Ansar M, Santos-Cortez RLP, Saqib MAN, Zulfiqar F, Lee K, Ashraf NM, Wang X, Sajid S, Khan FS, Amin-ud-Din M, University of Washington Center for Mendelian Genomics, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM (2015) Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics 134:941-50 PMID: 26063662; PMC4529463
  • Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Szyszka A, Hedemand A, Overgaard MT, Leal SM, Ahmad W, Wikman1FP, Petersen KB, Crüger DG, Kremer H, Oostrik J, Buniello A, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD (2015) A novel locus harbouring a functional CD164nonsense mutation identified in a large Danish family with nonsyndromic hearing impairment. PLoS Genetics 11(17):e1005386 PMID: 26197441; PMC4510537
  • Qayyum R, Becker LC, Becker DM, Faraday N, Yanek, LR, Leal SM, Shaw C, Mathias R, Suktitipat B, Bray PF (2015) Platelet aggregation GWAS in African Americans. BMC Genetics 16:58. PMID 26024889; PMC4448541
  • Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, Zong-Xiao He Z, Leal SM, Bernier R, Eichler EE (2015) Excess of rare inherited truncating mutations in autism. Nature Genetics 47:582-8 PMID: 25961944; PMC4449286
  • Watkin LB, Jessen B, Wiszniewski W, Vece T, Jan M, Sha Y, Thamsen M, Santos-Cortez RLP, Forbes L, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Dr. Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter D, Kwok PY, Hicks J, Jones KD, Jhangiani SN, Rosenblum MD, Dr. Dell SD, Waterfield MR, Papa F, Ms. Muzny DM, Zaitlen N, Lee K, Gonzaga-Jauregui C, Baylor-Hopkins Center for Mendelian Genomics, Eric Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Leal SM, Gambin T, Shum A (2015) COPA mutations impair ER-Golgi transport causing hereditary autoimmune-mediated lung disease and arthritis. Nature Genetics 47:654-60 PMID: 25894502; PMC4513663
  • Rehman AU, Santos-Cortez RLP, Drummond MC, Shahzad M, Lee K, Robert J. Morell RJ, Ansar M, Jan A, Wang XF, Aziz A, Riazuddin S, Smith JD, Wang G, Ahmed ZM, Gul K,3 Shearer AE, Smith RJH, Shendure J, Bamshad M, Nickerson DA, University of Washington Center for Mendelian Genomics, Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM (2015) Challenges of gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics 23:1207-15 PMID: 25491636; PMC4538203
  • O'Connor TD, Fu W; NHLBI GO Exome Sequencing Project; ESP Population Genetics and Statistical Analysis Working Group, Emily Turner, Mychaleckyj JC, Logsdon B, Auer P, Carlson CS, Leal SM, Smith JD, Rieder MJ, Bamshad MJ, Nickerson DA, Akey JM. (2015) Rare variation facilitates inferences of fine-scale population structure in humans. Molecular Biology Evolution 2:653-60 PMID: 25415970; PMC4327153
  • Guo DC, Gong L, Regalado ES, Santos-Cortez RLP, Cai B, Zhao R, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Backer JD, GenTAC, NHLBI GO Exome Sequencing Project, Montalcino Aortic Consortium, Bamshad MJ, Shendure J, Nickerson DA, Leal SM, Raman CS, Swindell EC, Milewicz DM. (2015) MAT2A mutations cause familial thoracic aneurysms and dissections. American Journal of Human Genetics 96:170-7. PMID: 25557781; PMC4289682
  • Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Kim DS, Carlson CS, Fornage M, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Gabriel SB, Gibbs R, Nickerson DA, Peters U, Dupuis J, Wilson JG, Rich SS, Morrison AC, Benjamin EJ, Gross MD, Reiner AP, on Behalf of the Cohorts for Heart and Aging Research in Genomic Epidemiology and the National Heart, Blood, and Lung Institute GO Exome Sequencing Project (2015) Association of exome sequencing variants with CRP levels in European Americans and African Americans: Meta-analysis of results from NHLBI-ESP and CHARGE-S. Human Molecular Genetics 24:559-71 PMID:25187575; PMC4334838
  • Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RLP, Leal SM, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, University of Washington Center for Mendelian Genomics, Grotta JC, Nickerson DA, Pannu H, Milewicz DM. (2014) RNF213 Mutations in an ethnically diverse population with Moyamoya disease. Stroke 45:3200-7 PMID: 2527855; PMC4420622
  • Wang GT, Li B, Santos-Cortez RL, Peng B, Leal SM (2014) Statistical power analysis for sequence based association studies. Bioinformatics 30:2377-8 PMID: 24778108; PMC4133582
  • Wang L, Yamaguchi S, Burstein MD Keita Terashima, Chang K, Ng H-K, Nakamura H, He Z, Doddapaneni H, Lewis L, Wang M, Suzuki T, Nishikawa R, Natsume A, Terasaka S, Dauser R, Whitehead W, Adekunle A, Sun J, Qiao Y, Marth G, Muzny DM, Gibbs RA, Leal SM, Wheeler DA, Lau CC (2014) Novel somatic and germline mutations in intracranial germ cell tumors. Nature 511:241-5 PMID: 24896186; PMC4532372
  • Wang GT, Peng B, Leal SM (2014) Variant Association Tools for association analysis and quality control of large scale sequence and genotyping array data. American Journal of Human Genetics 94:770-83 PMID: 24791902; PMC4067555
  • MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. (2014) Guidelines for investigating causality of sequence variants in human disease. Nature 508:469-76 PMID: 24759409; PMC4180223.
  • Santos-Cortez RLP, Lee K, Giese AP, Ansar M, Amin-ud-din M, Rehn K, Xin X, Aziz A, Chiu I, Ali RH, Smith JD, University of Washington Center for Mendelian Genomics, Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM (2014) Adenylate Cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Human Molecular Genetics 23:3289-98 PMID: 24482543; PMC4030782
  • Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan A, Basra M, Wasif N, Ayub M, Ali R, Raza S, University of Washington Centre for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM*, Friedman TB* (2014) Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics 94:144-52. PMID: 24387994; PMC3882911 *Co-corresponding author
  • He Z, O’Roak BJ, Smith JD, Wang G, Hooker S, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM (2014) Rare variant extensions of the transmission disequilibrium test: application to autism sequence data. American Journal of Human Genetics 94:33-46 PMID:24360806; PMC3882934
  • Li B, Wang G, Leal SM (2013) PhenoMan: Phenotypic data exploration, selection, management and quality control for association studies of rare and common variants. Bioinformatics 30:442-4 PMID: 24336645; PMC3904519
  • Kambur O, Kaunisto MA, Tikkanen E, Leal SM, Ripatti S, Kalso EA (2013) Effect of COMT-gene variants on experimental and acute postoperative pain in humans. Anesthesiology 119:1422-33 PMID: 24343288; PMC4869072
  • Guo DC, Regalado E, Casteel D, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Chang G, Jondeau G, Boileau C, Coselli JS, Leal SM, Shendure J, Rieder MJ, Nickerson DA, Choel K, Milewicz DM (2013) Recurrent gain of function mutation in cGMP-dependent protein kinase (PRKG1) causes thoracic aortic aneurysms and dissections. American Journal of Human Genetic. 93: 398-404 PMID: 23910461; PMC3738837
  • Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A,Campbell IM, Hixson P, Ester AR, Azamian MS, Potocki L, Zapata G, Hernandez PP, Ramocki MB, Santos-Cortez RL, Wang G, York MK, Justice MJ, Chu ZD, Bader PI, Omo-Griffith L, Madduri N, Scharer G, Crawford HP, Yanatatsaneejit P, Eifert A, Kerr J, Bacino CA, Franklin AI, Goin-Kochel RP, Simpson G, Immken L, Haque ME, Stosic M, Williams MD, Morgan TM, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Mutirangua A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsansis N, Lupski JR, Lalani SR (2013) TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. American Journal of Human Genetics 93:197–210 PMID:23810381; PMC3738832
  • Auer PL, Wang G, NHLBI Exome Sequencing Project, Leal SM (2013) Testing for rare variant associations in the presence of missing data. Genetic Epidemiology 37:529-38. PMID: 23757187; PMC4459641
  • Lee K, Chiu I, Santos-Cortez RL, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM (2013) Novel OTOA mutations cause autosomal recessive nonsyndromic hearing impairment in Pakistani families. Clinical Genetics 84:294-6. PMID: 23173898; PMC6220893
  • O’Connor TD, Fu F, NHLBI GO Exome Sequencing Project, ESP Population Genetics and Statistical Analysis Working Group, Mychaleckyj JC, Logsdon B, Auer P, Carlson C, Leal SM, Smith J, Rieder M, Bamshad MJ, Nickerson DA, Akey JM (2013) Rare variation facilitates inferences of fine-scale population structure in humans. PLoS One 8:e65834 PMID:23861739; PMC3701690
  • Santos-Cortez RL, Lee K, Azeem Z, Antonellis P, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, University of Washington Center for Mendelian Genomics, Nickerson DA, McDermott Jr. BM, Ahmad W, Leal SM (2013) Mutations in KARS, encoding Lysyl-tRNA synthetase, cause autosomal recessive nonsyndromic hearing impairment DFNB89. American Journal of Human Genetics 93:132-40. PMID: 23768514; PMC3710764
  • Jenkinson EM, Atteeq U. Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT, University of Washington Center for Mendelian Genomics, Black GC, Trump D, Davis JRE, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG (2013) Perrault syndrome is caused by recessive mutations of the mitochondrial ATP-dependent chambered protease CLPP. American Journal of Human Genetics 92: 605–613 PMID 23541340; PMC3617381
  • Fu W, O’Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Stacey Gabriel S, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Population Genetics Working Group, Broad GO, Seattle GO, NHLBI Exome Sequencing Project, Akey JM (2013) Analysis of 6,515 exomes reveals a very recent origin of most human protein-coding variants. Nature 493:216-20 PMID: 23201682; PMC3676746
  • Liu DJ, Leal SM (2012) A unified method for detecting secondary trait associations with rare variants: Application to sequence data. PLoS Genetics 8:e1003075 PMID: 23166519; PMC3499373
  • Riazuddin S, Belyantseva IA, Giese1 A, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Shinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GL, Leal SM, Friedman TB, Ahmed ZM (2012) Mutations of CIB2, a calcium and integrin binding protein, cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nature Genetics 44:1265-71 PMID: 23023331; PMC3501259
  • Merry-Lynn McDonald ML, MacMullen C, Liu DJ, Leal SM, Davis RL (2012) Genetic association of cyclic AMP signaling genes with bipolar disorder. Translational Psychiatry 2:e169 PMID: 23032945; PMC3565822
  • Li B, Wang G, Leal SM (2012) SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. Bioinformatics 28:2703-4 PMID: 22914216; PMC3467746
  • Liu DJ, Leal SM (2012) Estimating genetic effects and quantifying missing heritability explained by identified rare variant associations. American Journal of Human Genetics 91:585-96 PMID: 23022102; PMC3484659
  • Lee K, Khan S, Islam A, Ansar M, Kim S, Santos-Cortez RLP, Ahmad W, Leal SM (2012) Novel TMPRSS3 variants in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Clinical Genetics 82:56-63 PMID: 21534946; PMC3374056
  • Cheung YH, Wang G, Leal SM, Wang S (2012) A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders. Genetic Epidemiology 36: 675-85. PMID: 22865616; PMC6240912
  • Boileau C, Guo D-C, Hanna N, Regalado ES, Detaint D, Prakash S, Varet M, Gong L, Li AH, d’Indy H, Braverman AC, Grandchamp B, Laurent Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Rieder MJ, Nickerson DA, Vahanian A, Michel JB, NHLBI Go Exome Sequencing Project, Jondeau G, Milewicz DM (2012) TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections. Nature Genetics 44:916-921 PMID: 22772371; PMC4033668
  • Ng CS, Wu P, Foley J, Foley A, McDonald M, Juan W-T, Huang C-J, Lai Y-T, Lo W-S, Chen C-F, Leal SM, Zhang H, Widelitz RB, Patel PI, Li W-H, Chuong C-M (2012) The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis. PLoS Genetics 8:e1002748 PMID: 22829773; PMC3400578
  • Tennessen JA, Bigham AW, O’Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altschuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM, Broad GO, Seattle GO, on behalf of the NHLBI Exome Sequencing Project (2012) Evolution and functional impact of rare coding variation from deep sequencing of 2,440 human exomes. Science 337:64-9 PMID: 22604720; PMC3708544
  • Liu DJ, Leal SM (2012) SEQCHIP: A powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics 28:1745-51 PMID: 22556370; PMC3381973
  • Edelstein LC, Luna EJ, Gibson I, Bray M, Jin Y, Kondkar A, Nagalla S, Hadjout-Rabi N, Smith TC, Covarrubias D, Jones SN, Ahmad F, Kong X, Fang Z, Bergmeier W, Shaw C, Leal SM, Bray PF (2012) Platelet supervillin inhibits thrombus formation under shear stress in humans and mice. Circulation 125:2762-71 PMID: 22550155; PMC3515852
  • Celestino-Soper PBS, Violantee S, Crawford EL, Luoh R, Lioneli AC, Delabyk E, Cail G, Sadikovica B, Lee K, Loa C, Gaoh K, Person RE, Mossa TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind D, Sutcliff JS, Hurles ME, Wanders RJA, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaze FM, Beaudet AL (2012) A common X-linked inborn error of carnitine biosynthesis may be a risk factor for non-dysmorphic autism. PNAS 109:7974-81 PMID: 22566635; PMC3361440
  • Liu DJ, Leal SM (2012) A unified framework for detecting rare variant quantitative trait associations in pedigree and unrelated individuals via sequence data. Human Heredity 73:105-22 PMID: 22555759; PMC3369372
  • Liu DJ, Leal SM (2012) A flexible likelihood framework for mapping secondary phenotypes in genetic studies using selected samples: application to sequence data. European Journal of Human Genetics 20:449-56 PMID: 22166943; PMC3306858
  • Mechanic LE, Chen HS, Amos CI, Chatterjee N, Cox NJ, Divi RL, Fan R, Harris EL, Jacobs K, Kraft P, Leal SM, McAllister K, Moore JH, Paltoo DN, Province MA, Ramos EM, Ritchie MD, Roeder K, Schaid DJ, Stephens M, Thomas DC, Weinberg CR, Witte JS, Zhang S, Zöllner S, Feuer EJ, Gillanders EM (2012) Next generation analytic tools for large scale genetic epidemiology studies of complex diseases. Genetic Epidemiology 36:22–35 PMID: 22147673; PMC3368075
  • Lee K, Ansar M, Andrade PB, Santos-Cortez RLP, Ahmad W, Leal SM (2012) Novel CLDN14 mutations in Pakistani families with autosomal recessive nonsyndromic hearing impairment. American Journal of Medical Genetics 158A:315-21 PMID: 22246673; PMC3276114
  • Brautbar A, Covarrubias D, Belmont J, Lara-Garduno F, Jones PH, Leal SM, Ballantyne CM (2011) Variants in the APOA5 gene region and the response to fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia. Atherosclerosis 219:737-42 PMID: 21889769; PMC6174528
  • Ansar M, Lee K, Naqvi S, Andrade PB, Basit S, Santos-Cortez RLP, Ahmad W, Leal SM (2011); A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13. Journal of Human Genetics 56: 866-868 PMID: 21937999; PMC3245365
  • Rehman AU, Gul K, Morell RJ, Lee K, Ahmed ZM, Riazuddin S, Ali RA, Shahzad M, Jaleel AU, Andrade PB, Khan SN, Khan S, Brewer CC, Ahmad W, Leal SM, Riazuddin S, Friedman TB (2011) Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p. Human Genetics 130:759-65 PMID: 21660509; PMC 3303183
  • LeMaire SA, McDonald ML N, Guo DC, Russell L, Miller C, Johnson RJ, Anthony Estrera AL, Safi HJ, Coselli JS, Bray M, Belmont JD, Leal SM, Milewicz DM and the GenTAC investigators (2011) Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nature Genetics 43:996-1000 PMID: 21909107; PMC3244938
  • Lee K, Khan S, Ansar M, Santos-Cortez RLP, Ahmad W, Leal SM (2011) Novel ESRRB deletion: rare cause of autosomal recessive nonsyndromic hearing impairment among Pakistani families. Genetics Research International Special Issue, Genetics of Deafness Volume 2011; Article ID 368915 PMID 22567352; PMC3335572
  • Lee K, Amin ud Din M, Ansar M, Chen L, Santos-Cortez RLP, Ahmad W, Leal SM (2011) Autosomal recessive nonsyndromic hearing impairment due to a novel deletion in the RDX gene. Genetics Research International Special Issue, Genetics of Deafness Volume 2011; Article ID 294675 PMID: 22567349; PMC 3335613
  • Regalado E, Villamizar C, Guo DC, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Shendure J, Nickerson D, Milewicz DM (2011) Exome sequencing identifies SMAD3 as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneuryms. Circulation Research 109:680-6 PMID: 21778426; PMC4115811
  • Lin D, Gibson IB, Moore JM, Thornton PC, Leal SM, Hastings PJ (2011) Global chromosomal structural instability in a subpopulation of starving escherichia coli cells. PLoS Genetics e1002223 PMID: 21901104; PMC3161906
  • Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, M yers RM, Leal SM, Allayee H and Patel PI (2011) A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia. Clinical Genetics 80:265-72 PMID: 21443745; PMC6240906
  • Kuang SQ, Guo DC, Prakash SK, Johnson RJ, Wang M, Regalado E, Russell L, Cao J, Kwartler CS, Fraivillig F, Joseph S. Coselli JS, Safi H, Estrera AL, Leal SM, LeMaire SA, Belmont J, Milewicz JM and the GenTAC investigators (2011) Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissection. PLoS Genetics 6:e1002118 PMID: 21504763; PMC3116911
  • Tomson S, Avidan N, Lee K, Sarma AK, Tushe L, Milewicz D, Bray M, Leal SM, Eagleman DM (2011) The genetics of colored sequence synesthesia: Suggestive evidence of linkage to 16q and genetic heterogeneity for the condition. Behavioral Brain Research 223:48-52 PMID: 21504763; PMC4075137
  • Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RLP, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM (2011) Novel autosomal recessive non-syndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3. Human Heredity 71:106-12 PMID: 21734401; PMC3136383
  • Nagalla S, Shaw C, Kong X, Kondkar AA, Edelstein LC, Ma L, Chen J, McKnight GS, López JA, Yang L, Jin Y, Bray MS, Leal SM, Dong JF, Bray PF (2011) Platelet microRNA-mRNA co-expression profiles correlate with platelet reactivity. Blood 117:5189-97 PMID: 21415270; PMC3109541
  • Vacic V, McCarthy S, Murray F, Cho H-H, Malhotra D, Peoples A, Makarov V, Yoon S, Corominas R, Iakoucheva LM, Krastoshevsky O, Krause V, Welsh DK, Craig D, Kelsoe JR, Gershon ES, Leal SM, Morris DW, Gill M, Corvin A, Karayiorgou M, Insel, PA, McClellan J, King M-K, Levy DL, DeLisi LE, Sebat J (2011) Genomic duplications and triplications of the neuropeptide receptor VIPR2 confer significant risk for schizophrenia. Nature 471:499-503 PMID: 21346763; PMC 3351382
  • Borck G, Rehman A, Lee K, Pogoda H-M, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nȕrnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Amhad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberlying WJ, Webster J, Stephan D, Schiller M, Bahlo M, Najmabadi H, Gillespie PG, Nȕrnberg P, Wollnik B, Riazuddin S, Smith RJH, Ahmad W, Mȕller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. (2011) Loss-of-function mutations of IDLR1 cause autosomal recessive hearing impairment DFNB42. American Journal of Human Genetics 88:127-37 PMID: 21255762; PMC3035704
  • Basit S, Lee K, Habib R, Chen L, e-Kalsoom U, Santos-Cortez RLP, Azeem Z, Andrade P, Ansar M, Ahmad W, Leal SM (2011) DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2 Human Genetics 129:379-85 PMID: 21181198; PMC3312604
  • Arnett J, Emery S, Kim TB, Boerst AK, Lee K, Leal SM, Marci Lesperance MM (2011) Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in KCNQ4. Archives of Otolaryngology-Head & Neck Surgery 137:54-9 PMID: 21242547; PMC3278911
  • Ahmed SM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Thusnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Camp G, Riazuddin S, Friedman TB, Riazuddin S (2011) Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. American Journal of Human Genetics 88:19-29 PMID: 21185009; PMC3014371
  • Liu DJ, Leal SM (2010) Replication strategies for rare variant complex trait association studies via next generation sequencing. American Journal of Human Genetics 87:790-801 PMID: 21129725; PMC2997372
  • Prakash SK, Lemaire SA, Guo DC, Regalado ES, Golabbakhsh H, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW (2010) Rare copy number variants reveal a gene network regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. American Journal of Human Genetics 87:743-56 PMID: 21092924; PMC2997376
  • Liu DJ, Leal SM (2010) A novel adaptive method for the analysis of next generation sequencing data to detect complex trait associations with rare variants due to gene main effects and interactions. PLoS Genetics 6(10):e1001156 PMID: 20976247; PMC2954824
  • Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccol P, Van Den Veyver I, Bacino CA (2010) Terminal osseous dysplasia with pigmentary defects (TODPD): follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region. American Journal of Medical Genetics Part A 152A:1825-31 PMID: 20583181; PMC2909110
  • Hastings PJ, Hersh M, Thornton P, Fonville N, Slack S, Ray M, Harris R, Leal SM, Rosenberg S (2010) Competition of escherichia coli DNA polymerases I, II and III with DNA Pol IV in stressed cells. PLoS ONE 5:e10862 PMID: 20523737; PMC2877720
  • Kondkar AA, Bray MS, Leal SM, Nagalla S, Liu DJ, Ying J, Ma L, Ren Q, Whiteheart SW, Shaw C, Bray PF (2010) Vamp8/Endobrevin is over expressed in hyperreactive human platelets: suggested role for platelet Micro-RNA. Journal of Thrombosis and Haemostasis 8:369-78 PMID: 19943878; PMC3312605
  • Schraders M, Lee K, Oostrik J, Huygen PLM, Ali G, Hoefsloot LH, Veltman JA, Cremers FPM, Basit S, Ansar M, Cremers CWRJ, Kunst HPM, Ahmad W, Admiraal RJC, Leal SM, Kremer H (2010) Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal recessive nonsyndromic hearing impairment. American Journal of Human Genetics 86:138-147 PMID: 20137778; PMC2820176
  • Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ (2009) Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. American Journal of Human Genetics 85:25-39 PMID: 19576567; PMC2706959
  • McBride KL, Zender G, Fitzgerald-Butt S, Koehler D, Fernbach S, Lee K, Towbin J, Leal S, Belmont JW (2009) Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome). European Journal of Human Genetics 17:811-9 PMID: 19142209; PMC2916734
  • Li B, Leal SM (2009) Discovery of rare variant via sequencing: Implications for the design of complex trait association studies PLoS Genetics 5:e1000481 PMID: 19436704; PMC 2674213
  • Ahram D, Sato S, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H (2009) A homozygous mutation in ADAMTSL4 causes autosomal recessive isolated ectopia lentis. American Journal of Human Genetics 82:274-8 PMID: 19200529; PMC2668005
  • Christi MS, McDonald M-L, Lee K, Hassan MJ, Ansar M, Ahmad W, Leal SM (2009) New autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3. Journal of Human Genetics 53:141-4 PMID: 19229252; PMC2747327
  • Gajecka M, Radhakrishna U, Winters D, Nath SK, Rydzanicz M, Ratnamala U, Ewing K, Molinari A, Pitarque JA, Lee K, Lewis RA, Leal SM, Bejjani BA (2009) Localization of a gene for Keratoconus to a 5.6-Mb interval on 13q32. Investigative Ophthalmology & Visual Science 50:1531-9 PMID: 19011015; PMC4547351
  • Li B, Leal SM (2009) Deviations from Hardy-Weinberg equilibrium in parental and unaffected sibling genotype data. Human Heredity 67:104-14 PMID: 19077427; PMC2798818
  • Li B, Leal SM (2008) Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data. American Journal of Human Genetics 83:311-21 PMID: 18691683; PMC2842185
  • Covarrubias D, Bai R-K, Wong L-J C, Leal SM (2008) Mitochondrial DNA variant interactions modify breast cancer risk. Journal of Human Genetics 53:924-8 PMID: 18709563; PMC2767522
  • Oosterhuis BE, LaForge KS, Proudnikov D, Ho, Nielsen DA, Gianotti R, Barral S, Gordon D, Leal SM, Ott J, Kreek MJ (2008) Catechol-O-Methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B:793-8 PMID: 18270997; PMC2909109
  • Vrabec JT, Liu L, Li B, Leal SM (2008) Sequence variants in Host Cell Factor C1 are associated with Meniere’s disease. Otology and Neurotology 29:561-6 PMID: 18520591; PMC2757044
  • Bhatti A, Lee K, McDonald M-L, Wajid M, Ansar M, Ahmad W, Leal SM (2008) Mapping of a new autosomal recessive non-syndromic hearing impairment locus (DFNB45) to chromosome 1q43-q44. Clinical Genetics 73:395-8 PMID: 18325041; PMC2747313
  • Chishti MS, Bhatti A, Tamim S, Lee K, M-L McDonald, Leal SM, Ahmad W (2008) Novel splice site mutations in TRIC gene underlies autosomal recessive nonsyndromic hearing impairment in three Pakistani families. Journal of Human Genetics 53:101-5 PMID: 18084694; PMC2757049
  • Collin RWJ, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Çaylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Arslan S, Wollnik B, Brunner HG, Cremers CWRJ, Karaguzel A, Ahmad W, Cremers FPM, Vriend G, Friedman TG, Riazuddin S, Leal SM, Kremer H (2008) Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal recessive nonsyndromic hearing impairment DFNB35. American Journal of Human Genetics 82:125-38 PMID: 18179891; PMC2253958
  • Li B, Leal SM (2008) Ignoring intermarker linkage disequilibrium induces false-positive evidence of linkage for consanguineous pedigrees when genotype data is missing for any pedigree member. Human Heredity 65:199-208 PMID: 18073490; PMC2798807
  • International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R, Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi  T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen  PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF, Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT,  Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-61 PMID: 17943122; PMC2689609
  • Sabeti PC, Varilly P, Fry B, Lohmueller J, Hostetter E, Cotsapas C, Xie X, Byrne EH, McCarroll SA, Gaudet R, Schaffner SF, Lander ES; International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD,Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, Zhao H, Zhao H, Zhou J, Gabriel SB, Barry R,Blumenstiel B, Camargo A, Defelice M, Faggart M, Goyette M, Gupta S, Moore J, Nguyen H, Onofrio RC, Parkin M, Roy J, Stahl E, Winchester E, Ziaugra L, Altshuler D, Shen Y, Yao Z, Huang W, Chu X, He Y, Jin L, Liu Y, Shen Y, Sun W, Wang H, Wang Y, Wang Y, Xiong X, Xu L, Waye MM, Tsui SK, Xue H, Wong JT, Galver, LM, Fan JB, Gunderson K, Murray SS, Oliphant AR, Chee MS, Montpetit A, Chagnon F, Ferretti V, Leboeuf M, Olivier JF, Phillips MS, Roumy S, Sallée C, Verner A, Hudson TJ, Kwok PY, Cai D, Koboldt DC, Miller RD, Pawlikowska L, Taillon-Miller P, Xiao M, Tsui LC, Mak W, Song YQ, Tam PK, Nakamura Y, Kawaguchi T, Kitamoto T, Morizono T, Nagashima A, Ohnishi Y, Sekine A, Tanaka T, Tsunoda T, Deloukas P, Bird CP, Delgado M, Dermitzakis ET, Gwilliam R, Hunt S, Morrison J, Powell D, Stranger BE, Whittaker P, Bentley DR, Daly MJ, de Bakker PI, Barrett J, Chretien YR, Maller J, McCarroll S, Patterson N, Pe'er I, Price A, Purcell S, Richter DJ, Sabeti P, Saxena R, Schaffner SF, Sham PC, Varilly P, Altshuler D, Stein LD, Krishnan L, Smith AV, Tello-Ruiz MK, Thorisson GA, Chakravarti A, Chen PE, Cutler DJ, Kashuk CS, Lin S, Abecasis GR, Guan W, Li Y, Munro HM, Qin ZS, Thomas DJ, McVean G, Auton A, Bottolo L, Cardin N, Eyheramendy S, Freeman C, Marchini J, Myers S, Spencer C, Stephens M, Donnelly P, Cardon LR, Clarke G, Evans DM, Morris AP, Weir BS, Tsunoda T, Johnson TA, Mullikin JC, Sherry ST, Feolo M, Skol A, Zhang H, Zeng C, Zhao H, Matsuda I, Fukushima Y, Macer DR, Suda E, Rotimi CN, Adebamowo CA, Ajayi I, Aniagwu T, Marshall PA, Nkwodimmah C, Royal CD, Leppert MF, Dixon M, Peiffer A, Qiu R, Kent A, Kato K, Niikawa N, Adewole IF,  Knoppers BM, Foster MW, Clayton EW, Watkin J, Gibbs RA, Belmont JW, Muzny D, Nazareth L, Sodergren E, Weinstock GM, Wheeler DA, Yakub I, Gabriel SB, Onofrio RC, Richter DJ, Ziaugra L, Birren BW, Daly MJ, Altshuler D, Wilson RK, Fulton LL, Rogers J, Burton J, Carter NP, Clee CM, Griffiths M, Jones MC, McLay K, Plumb RW, Ross MT,  Sims SK, Willey DL, Chen Z, Han H, Kang L, Godbout M, Wallenburg JC, L'Archevêque P, Bellemare G, Saeki K, Wang H, An D, Fu H, Li Q, Wang Z, Wang R, Holden AL, Brooks LD, McEwen JE, Guyer MS, Wang VO, Peterson JL, Shi M, Spiegel J, Sung LM, Zacharia LF, Collins FS, Kennedy K, Jamieson R, Stewart J (2007) Genome-wide detection and characterization of positive selection in human populations. Nature 449:913-8 PMID: 17943131; PMC2687721
  • Frajdenberg A, Pecold K, Podfigurna-Musielak M, Rydzanicz M, Mrugacz M, Leal SM, Bejjani BA, Gajecka M. (2007) An analysis of the fundus changes in families with high myopia. Klinika Oczna 109:173-5 PMID: 17725279; PMC6190802
  • Wali A, Ali G, John P, Lee K, Leal SM, Ahmad W (2007) Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2. Annuals of Human Genetics 71:570-7 PMID: 17451405; PMC6148758
  • Pausova Z, Paus T, Abrahamowicz M, Almerigi J, Arbour N, Bernard M, Gaudet D, Hanzalek P, Hamet P, Evans AC, Kramer M, Laberge L, Leal SM, Leonard G, Lerner J, Lerner RM, Matheiu J, Perron M, Pike B, Pitiot A, Richer L, Seguin JR, Syme C, Toro R, Tremblay RE, Veillette S, Watkins K (2007) Genes, maternal smoking and the offspring brain and body during adolescence: design of the Saguenay youth study. Human Brain Mapping 28:502-18 PMID: 17469173; PMC6174527
  • Bai R-K, Leal SM, Covarrubias D, Liu A, Wong L-J C (2007) Mitochondrial genetic background modifies breast cancer risk. Cancer Research 67:4687-94 PMID:18709563; PMC2767522
  • Mendoz G, Pemberton TJ, Lee K, Scarel-Caminga R, Mehrian-Shai R, Gonzalez C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SRP, Patel PI (2007) A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Human Genetics 120:653-62 PMID: 17024372; PMC6174526
  • Naeem M, Jelani M, Lee K, Ali G, Shah W, Raza SI, Gul A, Muhammad Chisti MS, John P, Hassan MD, Leal SM, Ahmad W (2006) Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2 and mutation analysis of candidate genes. British Journal of Dermotology155:1184-90 PMID: 17107387; PMC6155468
  • Wali A, John P, Gul A, Chishti MS, Lee K, Ali G, Hassan MJ, Leal SM, Ahmad W (2006) A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31. Clinical Genetics 70:233-9 PMID: 16922726; PMC6155482
  • Santos RLP, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE, Jr, Ahmad W, Leal SM (2006) DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Human Genetics 120:85-92 PMID: 16703383; PMC2909094
  • Wang QJ, Li QZ, Rao SQ, Lee K, Yang WY, Zhai SQ, Guo WW, Guo YF, Yu N, Zhao YL, Yuan H, Guan J, Leal SM, Han DY, Shen Y (2006) AUNX1, a novel locus responsible for X-linked recessive and early-onset auditory neuropathy in an extended 5-generation Chinese family, maps to Xq23-27.3. Journal of Medical Genetics 43:e33 PMID: 16816020; PMC2564562
  • Tariq A, Santos RLP, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM (2006) Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. Journal of Molecular Medicine 84:484-90 PMID: 16596430; PMC2909102
  • Santos RL, Häfner FM, Huygen PLM, Linder TE, Schinzel AA, Spillmann T, Leal SM (2006) Phenotypic characterization of DFNA24: Prelingual progressive sensorineural hearing impairment. Audiology and Neurotology 11:269-75 PMID:16717440; PMC2923580
  • Ali G, Santos RLP, John P, Lee K, Ahmad W, Leal SM (2006) The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23. Clinical Genetics 69:429-33 PMID:16650082; PMC2909107
  • El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R (2006) A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Development 28:353-357 PMID: 16376507; PMC6143173
  • Naeem M, Wajid M, Lee K, Leal SM, Ahmad W (2006) A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. Journal of Medical Genetics 43:274-9 PMID: 16525032; PMC2563238
  • Santos RL, El-Shanti H, Sikandar S, Bhatti A, Yan K, Chahrour M, Lee K, Mahasneh AA, McArthur N, Pham TL, Ahmad W, Leal SM (2006) Novel sequence variants in the TMIE gene in families with autosomal recessive non-syndromic hearing impairment. Journal of Molecular Medicine 84:226-31 PMID: 16389551; PMC2909111
  • Mims MP, Hayes TG, Zheng S, Leal SM, Frolov A, Ittmann MM, Wheller TM, Prchal JT (2006) Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Research 6:1880-1 PMID: 16452251; PMC6181229
  • John P, Ali G, Chishti1 MS, Naqvi SMS, Leal SM, Ahmad W (2006) A novel locus for alopecia with mental retardation syndrome maps to chromosome 3q26.33-q27.3. Human Genetics 118:665-7 PMID: 16273389; PMC6141007
  • Hassan MJ, Santos RLP, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM (2006) A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Human Genetics 118:605-610 PMID: 16261342; PMC2909103
  • Leal SM (2005) Detection of genotyping errors and pseudo-SNPs via deviations from Hardy Weinberg equilibrium. Genetic Epidemiology 29:204-14 PMID: 16080207; PMC6192426
  • Leal SM, Yan K, Müller-Myhsok B (2005) SimPed: A simulation program to generate haplotype and genotype data for pedigree structures. Human Heredity 60:119-22 PMID: 16224189; PMC2909095
  • Yu F, Hardenbol P, Fu Q, Sabeti P, Lu X, Ghose S, Perez A, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA (2005) Positive selection of a pre - expansion CAG repeat of the human SCA2 gene. PLOS Genetics 1:e41 PMID: 16205789; PMC1239938
  • Santos RLP, Wajid M, Khan M, McArthur N, Pham T, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour M, Ansar M, Ahmad W, Leal SM (2005) Novel sequence variants in the TMC1 genes in Pakistani families with autosomal recessive hearing impairment. Human Mutation 26:396 PMID: 16134132; PMC2909098
  • Irshad S, Santos RLP, Muhammad D, Lee K, McArthur N, Haque S, Ahmad W, Leal SM (2005) Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2 Clinical Genetics 68:262-7 PMID: 16098016; PMC2910366
  • Sobngwi, Gautier J-F, Kevorkian J-F, Villette J-M, Reveline J-P, Zhang S, Vexiau P, Leal SM, Vaisse C, Mauvais-Jarvis F (2005) High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes. Journal of Clinical Endocrinology and Metabolism 90:4446-51 PMID: 15914531; PMC6143174
  • Ferguson, P, Tayeh MK, Ochea L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed, HA, El-Shanti H (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed syndrome). Journal of Medical Genetics 42:551-7 PMID: 15994876; PMC1736104
  • McBride M, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Wilbur Lam, Leal SM, Kaplan N, Schliekelman P, Towbin J, Belmont J (2005) Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. American Journal of Medical Genetics A 134A:180-6 PMID: 15690347; PMC1361302
  • Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, K Yan, Ahmad W, Leal SM (2005) Mapping of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB46) to chromosome 18p11.32-p11.31. American Journal of Medical Genetics Part A 133A:23-6 PMID: 15637723; PMC2909100
  • Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM (2005) A novel autosomal recessive non-syndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. American Journal of Medical Genetics Part A 133A:18-22 PMID: 15641023; PMC2909096
  • Santos RLP, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM (2005) Low prevalence of Connexin 26 (GJB2) mutations in Pakistani families with autosomal recessive nonsyndromic hearing impairment. Clinical Genetics 67:61-8 PMID: 15617550; PMC 2909104
  • Kaunisto MA, Tikka PJ, Kallela M, Leal SM, Korhonen A, Hamalainen E, Harno H, Havanka H, Nissila M, Sako E, Ilmavirta M, Kaprio J, Farkkila M, Ophoff RA, Palotie A, Wessman M (2005) Chromosome 19p13 loci in Finnish migraine with aura families. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 132B:85-9 PMID: 15449251; PMC6217809
  • Bulayeva KB, Leal SM, Pavlova TA, Kurbanov RM, Glatt SJ, Bulayev OA, Tsuang MT (2005) Mapping genes of complex psychiatric diseases in Daghestan genetic isolates. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 132B:76-84 PMID: 15389762; PMC6141030
  • Yuferov V, Fussell, Laforge KS, Nielsen D, Gordon D, Ho A, Leal SM, Ott J, Kreek MJ (2004) Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction. Pharamacogenetics 14:793-804 PMID: 15608558; PMC6141019
  • Ansar M, Chahrour MH, Amin ud Din M, Arshad M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM (2004) DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. Human Heredity 57:195-9 PMID: 15583425; PMC2920138
  • Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier J-F, Molokhia M, Reveline J-P, Rajan AS, Kevorkian J-F, Zhang S, Vexiau P, German M, Vaisse C (2004) PAX4 gene variations predispose to ketosis prone diabetes. Human Molecular Genetics 13:3151-9 PMID: 15509590; PMC6145178
  • Aslam M, Chahrour MH, Razzaq A, Haque S, Yan K, Leal SM, Ahmad W (2004) A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.2. Journal of Medical Genetics 41:849-52 PMID: 15520410; PMC1735610
  • Rafiq MA, Ansar M, Haque S, Leal SM, Ahmad W (2004) Recurrent EX5_8del mutation in DSG4 gene in three Pakistani families showing autosomal recessive hypotrichosis. Journal of Investigative Dermatology 123:247-54 PMID: 15191570; PMC6157275
  • Rafiq MA, Ansar M, Pham TL, Amin-ud-din M, Anwar M, Haque S, Chahrour MH, Yan K, Leal SM, Ahmad W (2004) Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3. Clinical Genetics 66:73-8 PMID: 15200512; PMC6141021
  • Bart G, Heilig M, LaForge KS, Asberg M, Polk L, Leal SM, Ott J, Kreek MJ (2004) Association between a functional polymorphism in the mu-opioid receptor gene and opiate dependence in central Sweden. Molecular Psychiatry 9:547-9 PMID: 15037869; PMC6141020
  • Li T-T, Larrucea S, Souza S, Leal SM, López JA, Rubin EM, Nieswandt B, Bray PF (2004) Genetic variation responsible for mouse strain differences in Integrin α2 expression is associated with altered responses to collagen. Blood 103:3396-402 PMID: 14739220; PMC6148756
  • Buchinsky FJ, Derkay CS, Leal SM, Donfack J Ehrlich GD, Post CJ (2004) Multicenter initiative seeking critical genes in respiratory papillomatiosis. Laryngoscope 114:349-57 PMID: 14755217; PMC6141032
  • Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJH, Friderici KH (2003) Mutations in the gamma actin gene (ACTG1) cause dominant progressive deafness (DFNA20/26). American Journal of Human Genetics 73:1082-91 PMID: 13680526; PMC1180488
  • Wajid M, Al Abbasi A, Ansar M, Pham TL, Yan K, Haque S, Ahmad W, Leal SM (2003) DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12. European Journal of Human Genetics 11:812-5 PMID: 14512973; PMC2909101
  • Rafique MA, Ansar M, Jamal SM, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad M (2003) A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. European Journal of Human Genetics 11: 623-8 PMID: 12891384; PMC6157268
  • Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM (2003) Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-6q27 in consanguineous kindred from Pakistan. Human Heredity 55:71-4 PMID: 12890929; PMC2909108
  • Leal SM (2003) Genetic maps of microsatellite and SNP markers: Are the distances accurate? Genetic Epidemiology 24:243-52 PMID: 12687641; PMC6141025
  • Lesperance MM, Hall JW, San Agustin TB, Leal SM (2003) Mutations in the Wolfram Syndrome Type 1 Gene (WFS1) Define a clinical entity of dominant low frequency sensorineural hearing loss. Archives of Otolaryngology-Head and Neck Surgery 129:411-20 PMID: 12707187; PMC6145174
  • Bulayeva KB, Pavlova TA, Kurbanov, RM, Leal S, Bulayev OA (2003) Genetic and epidemiological studies in Daghestan highland isolates. Genetika 39:413-22 PMID: 15389762

hypodontia. American Journal of Medical Genetic 118A:35-42 PMID: 12605438; PMC6156786

  • Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI (2003) Novel missense mutations and a 288 bp exonic insertion in the PAX9 gene in families with autosomal dominant
  • Ansar M, Amin ud Din M, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM (2003) Autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. European Journal of Human Genetics 11:77-80 PMID: 12529709; PMC2917542
  • DeWan AT, Parrado AR, Leal SM (2003) A Second Kindred linked to DFNA20 (17q25.3) Reduces the Genetic Interval. Clinical Genetics 63:39-45. PMID: 12519370; PMC6143177
  • Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ (2003) Non-syndromic recessive auditory neuropathy is due to mutations in the Otoferlin (OTOF) gene. Journal of Medical Genetics 40:45-50 PMID: 12525542; PMC1735255
  • DeWan AT, Parrado AR, Matise TC, Leal SM (2002) Map error reduction: Using genetic and sequence-based physical maps to order closely linked markers. Human Heredity 54:34-44 PMID: 12446985; PMC6143171
  • Baala L, Hadj-Rabia S, Hamel-Teillac D, Hadchouel M, Prost C, Leal SM, Jacquemin E, Sefiani A, De Prost Y, Courtois G, Munnich A, Lyonnet S, Vabres P (2002) Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. Journal of Investigational Dermatology 119:70-6 PMID: 12164927; PMC6173186
  • Chen ACH, Laforge KS, Ho A, McHugh PF, Kellog S, Bell K, Schluger RP, Leal SM, Kreek MJ (2002) A potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse. American Journal of Medical Genetics 114:429-35 PMID: 11992566; PMC6148755
  • Wessman M, Kallela M, Kaunisto M, Marttila P, Sobel E, Hartiala J Oswell G, Leal SM, Papp JC, Hämäläinen E, Broas P, Joslyn G, Hovatta I, Hiekkalinna T, Kaprio J, Ott J, Cantor RM, Zwart JA, Ilmavirta M, Havanka H, Färkkilä M, Peltonen L, Palotie A (2002) A susceptibility locus for migraine with aura on chromosome 4q24 revealed by genome-wide screen in Finnish families. American Journal of Human Genetics 70:652-62 PMID: 11836652; PMC384944
  • DeWan AT, Parrado AR, Matise TC, Leal SM (2002) The map problem: a comparison of genetic and sequence-based physical maps. American Journal of Human Genetics 70:101-7 PMID: 11706388; PMC384881
  • Kovach MJ, Waggoner B, Leal SM, Levenstien MA, Shanks CA, Gregg G, Simmons Z, Gelber D, Khadori R, Whyte MP, Al-Lozi M, Miller T, Rakowicz W, Lopate G, Florence J, Pestronk A, Kimonis VE (2001) Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder: Hereditary inclusion body myopathy, Paget disease of bone and frontotemporal dementia in four families. Molecular Genetics and Metabolism 74:458-475 PMID: 11749051; PMC6277059
  • Bespalova IN, van Camp G, Bom S, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst H, Kurnool P, Sivakumaran TA, Cremmers CWRJ, Leal SM, Burmeister M, Lesperance M (2001) Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Human Molecular Genetics 10:2501-8 PMID: 11709537; PMC6198816
  • Wille A, Leal SM (2001) Novel selection criteria for genome scans of complex traits. Genetic Epidemiology 21(Suppl 1):S800-4 PMID: 11793781; PMC6151864
  • Cigler T, LaForge KS, McHugh PF, Kappadia SU, Leal SM, Kreek MJ (2001) Novel and previously identified single nucleotide polymorphisms in the human 5-HT1B receptor gene: no association with cocaine or alcohol abuse/dependence. American Journal of Medical Genetics 105:489-97 PMID: 11496363; PMC6148750
  • Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Davis K, Khardori R, Gelber D (2000) Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genetics in Medicine 2:232-41 PMID: 11252708; PMC6173187
  • Bulayeva KB, Leal SM, Pavlova TA, Kurbanov, Coover S, Bulayev O, Byerley W (2000) The genetic epidemiology of schizophrenia in highland isolates of Daghestan (Northern Caucasus, Russia). American Journal Medical Genetics 10:67-72 PMID: 10994643;PMC6240907
  • Hu FZ, Preston RA, Post JC, White GJ, Kikuchi, LW, Wang X, Leal SM, Levenstien MA, Ott, J, Self TW, Allen GM, Stiffler RS, McGraw C, Pulsifer-Anderson EA, Ehrlich GD (2000) Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14: a collaboration with a family self-help group. JAMA 28:325-34 PMID: 10891964; PMC6148744
  • Salam AA, Haefner FM, Linder T, Spillmann T, Schinzel A, Leal SM (2000) A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. American Journal of Human Genetics 66:1984-88 PMID: 10777717; PMC1378045
  • Haefner FM, Salam AA, Linder T, Balmer D, Baumer A, Schinzel A, Spillmann T, Leal SM (2000) A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. American Journal of Human Genetics 66:1437-42 PMID: 10739769; PMC1288211
  • Leal SM, Ott J (2000) Effects of stratification in the analysis of affected sib-pair data: benefits and costs. American Journal of Human Genetics 66:567-75 PMID: 10677317; PMC1288110
  • Gordon D, Leal SM, Heath SC, Ott J (2000) An analytic solution to single nucleotide polymorphism error-detection rates in nuclear families: implications for study design. In Pacific Symposium on Biocomputing 2000 (eds, Altman RB, Dunker AK, Hunter L, Lauderdale K, Klein TE) World Scientific, Singapore pp 663-74 PMID: 10902214; PMC6148745
  • Alkhateeb A, Al-Alami J, Leal SM, El-Shanti HE (1999) Fine mapping of progressive pseudorheumatoid dysplasia: A tool for heterozygote identification. Genetic Testing 3:329-33 PMID: 10627939; PMC6141013
  • Leal SM, Heath SC (1999) Searching for alcoholism susceptibility genes using MCMC methods Genetic Epidemiology 17: Suppl 1, 217-22 PMID: 10597439; PMC614100
  • Chung WK, Luke A, Cooper RS, Rotini C, Vidal-Puig A, Rosenbaum M, Gordon D, Leal SM, Caprio S, Goldsmith R, Andreu AL, Bruno C, DiMauro S, Heo M, Lowe WL Jr., Lowell BB, Allison DB, Liebel RL (1999) The long isoform uncoupling protein-2 (UCP3L) in human energy homeostasis. International Journal of Obesity 23: Suppl 6, 49-50 PMID: 10454123; PMC6217808
  • Chung WK, Luke A, Cooper RS, Rotini C, Vidal-Puig A, Rosenbaum M, Chua M, Solanes G, Zheng M, Zhao L, LeDuc C, Eisberg A, Chu F, Murphy E, Schreier M, Aronne L, Caprio S, Kahle B, Flier JS, Gordon D, Leal SM, Cooper RS, Goldsmith R, Andreu AL, Brunno C, DiMauro S, Heo M, Lowe WL, Lowell BB, Allison DB, Liebel RL (1999) Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis. Diabetes 48:1890-95 PMID: 10480626; PMC6155469
  • Winick J, Blundell ML, Galke BL, Salam AA, Leal SM, Karayiorgou M (1999) Homozygosity mapping of the achromatopsia locus in the Pingelapese. American Journal of Human Genetics 64:1679-85 PMID: 10330355; PMC1377911
  • Apaydin F, Pfister M, Iber M, Kandogan T, Leal SM, Braendle U, Cura O, Zenner HP: (1998) Hereditaere Schwerhoeigkeit in die Tuekei: erste ergebnisse (Hereditary hearing loss in Turkey: first results): HNO 46:809-814 PMID: 9816535; PMC6181136
  • Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner H-P, Vitale E (1998) A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9. European Journal of Human Genetics 6: 341-4 PMID: 97881041; PMC6141006
  • Bond C, Laforge KS, Tian M, Melia D, Zhang S, Borg L, Gong J, Schluger J, Strong JA, Leal SM, Tischfield JA, Kreek MJ, Yu L (1998) Variation in receptor function from a single nucleotide polymorphism in the human mu opioid receptor gene: possible implications for opioid addiction. PNAS 95: 9608-13 PMID: 9689128; PMC21386
  • Scott WK, Speer MC, Leal SM, Brzustowicz L, Pericak-Vance MA (1997) False positive rates in a genomic screen for genes associated with Q1, Q2, and Q3. Genetic Epidemiology 14:891-6 PMID: 9433596; PMC6148742
  • Leal SM, Ott J (1997) Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance. Genetic Epidemiology 14:1097-100 PMID: 9433630; PMC6148754
  • Wilhelmsen K, Mirel D, Marder K, Leal SM, Tang M-X, Mayeux R (1997) Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13? Annuals of Neurology 41:813-17 PMID: 918904; PMC6155476
  • Peters U, Senger G, Rählmann M, Du Chesne I, Stec I, Köhler MR, Weissenbach J, Leal SM, Koch HG, Deufel T, Harms E (1997) Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined cystinosis critical region on chromosome 17p13. European Journal of Human Genetics 5:9-14 PMID: 9156315; PMC6198810
  • Ranta S, Lehesjoki A-E, Hirvasniemi A, Weissenbach J, Ross B, Riethman H, Leal SM, de la Chapelle A, Gilliam TC (1996) Genetic and physical mapping of the progressive epilepsy with mental retardation (EMPR) gene on chromosome 8p. Genome Research 6:351-60 PMID: 8743986; PMC6145179
  • Apaydin F, Leal SM, Iber M, Kandogan T, Braendle U, Cura O, Zenner H-P (1995) Nonsyndromic Genetik Isitme Kaybe (Nonsyndromic genetic hearing loss), Türk Otolarengolojii Arsivi 33:151-4
  • Leal SM, Ott J (1995) Variability of genotype specific penetrance probabilities in the calculation of risk support intervals. Genetic Epidemiology 12:859-62 PMID: 8788022; PMC6141013
  • Leal SM, Ott J (1994) A likelihood approach to calculating a risk support interval. American Journal of Human Genetics 54:913-17 PMID: 8178830; PMC1918257
  • Leal SM, Ott J (1993) A bootstrap approach to estimating power under linkage heterogeneity. Genetic Epidemiology 10:465-70 PMID: 8314045; PMC6141017
  • Petersen RB, Tabaton M, Berg L, Schrank B, Torack, RM, Leal S, Julien J, Vital C, Deleplanque B, Pendlebury WW, Drachman D, Smith TW, Martin JJ, Oda M, Montagna P, Ott J, Autilio-Gambetti L, Lugaresi E, Gambetti P (1992) Analysis of the prion protein gene in thalamic dementia. Neurology 42:1859-63 PMID: 1357593; PMC6141000
  • Medori R, Tritschler H J, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, Tinuper P, Avoni P, Mochi M, Baruzzi A, Hauw JJ, Ott J, Lugaresi E, Autilio Gambetti L, Gambetti P (1992) Fatal familial insomnia: a prion disease with a mutation at codon 178 of the prion protein gene. New England Journal of Medicine 326:444-9 PMID:1347910; PMC6151859
  • Musarella MA, Anson Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J (1990) Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics 8:286-96 PMID: 197905; PMC6174538