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SUZANNE MARGARET LEAL

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
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    T15HG000016     (LEAL, SUZANNE MARGARET)Apr 3, 1991 - Mar 31, 2014
    NIH/NHGRI
    Advanced Gene Mapping Course
    Role: Principal Investigator

    R29DC003594     (LEAL, SUZANNE MARGARET)Aug 1, 1998 - Jul 31, 2004
    NIH/NIDCD
    ISOLATION OF NON SYNDROMIC HEARING LOSS GENES
    Role: Principal Investigator

    R01DC003594     (LEAL, SUZANNE MARGARET)Aug 1, 1998 - Aug 31, 2022
    NIH/NIDCD
    Identification of Autosomal Recessive Nonsyndromic Hearing Impairment Genes
    Role: Principal Investigator

    R13MH059864     (LEAL, SUZANNE MARGARET)Apr 1, 1999 - Mar 31, 2000
    NIH/NIMH
    PHENOTYPES AND GENETIC ANALYSIS OF COMPLEX TRAITS
    Role: Principal Investigator

    R01DC011651     (LEAL, SUZANNE MARGARET)Apr 1, 2011 - Aug 31, 2021
    NIH/NIDCD
    Localization of Nonsyndromic Hearing Impairment Genes
    Role: Principal Investigator

    UM1HG006493     (NICKERSON, DEBORAH A)Dec 5, 2011 - Nov 30, 2019
    NIH/NHGRI
    UW Center for Mendelian Genomics
    Role: Co-Principal Investigator

    R25HG007511     (LEAL, SUZANNE MARGARET)Apr 1, 2014 - Mar 31, 2020
    NIH/NHGRI
    Advanced Gene Mapping Course
    Role: Principal Investigator

    R01HG008972     (LEAL, SUZANNE MARGARET)Jun 14, 2016 - Mar 31, 2020
    NIH/NHGRI
    Computational tools for sequence-based large-scale epidemiology studies
    Role: Principal Investigator

    R01AG058131     (LEAL, SUZANNE MARGARET)Apr 1, 2018 - Jan 31, 2023
    NIH/NIA
    Family-based methods to analyze sequence data to elucidate AD etiology
    Role: Principal Investigator

    R01DC016593     (LEAL, SUZANNE MARGARET)Sep 1, 2018 - Aug 31, 2023
    NIH/NIDCD
    Identification and Functional Evaluation of Autosomal Recessive Nonsyndromic Hearing Impairment Genes in sub-Saharan Africans
    Role: Principal Investigator

    R01HL145660     (DEWAN, ANDREW)Mar 15, 2019 - Feb 28, 2023
    NIH/NHLBI
    Detecting pleiotropic effects through integration of omics data
    Role: Co-Principal Investigator

    R01DC017712     (LEAL, SUZANNE MARGARET)Sep 1, 2019 - Aug 31, 2024
    NIH/NIDCD
    Innovative approaches to elucidate the genetic etiology of age-related hearing impairment and tinnitus
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Lindquist NR, Appelbaum EN, Acharya A, Vrabec JT, Leal SM, Schrauwen I. A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes. Case Rep Genet. 2019; 2019:2836263. PMID: 31428484.
      View in: PubMed
    2. 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, 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. A2ML1 and otitis media: novel variants, differential expression, and relevant pathways. Hum Mutat. 2019 Aug; 40(8):1156-1171. PMID: 31009165.
      View in: PubMed
    3. Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. Eur J Hum Genet. 2019 Sep; 27(9):1456-1465. PMID: 31053783.
      View in: PubMed
    4. Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Heterozygosity mapping for human dominant trait variants. Hum Mutat. 2019 Jul; 40(7):996-1004. PMID: 31018026.
      View in: PubMed
    5. Cornejo-Sanchez DM, Carrizosa-Moog J, Cabrera-Hemer D, Solarte-Mila R, Gomez-Castillo C, Thomas R, Leal SM, Cornejo-Ochoa W, Pineda-Trujillo N. Sleepwalking and Sleep Paralysis: Prevalence in Colombian Families With Genetic Generalized Epilepsy. J Child Neurol. 2019 Aug; 34(9):491-498. PMID: 31012364.
      View in: PubMed
    6. Ullah I, 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 H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun; 138(6):593-600. PMID: 30982135.
      View in: PubMed
    7. Schrauwen I, Melegh BI, Chakchouk I, Acharya A, Nasir A, Poston A, Cornejo-Sanchez DM, Szabo Z, Karosi T, Bene J, Melegh B, Leal SM. Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma. Eur J Hum Genet. 2019 Jun; 27(6):869-878. PMID: 30872814.
      View in: PubMed
    8. He Z, Wang L, DeWan AT, Leal SM. MendelProb: probability and sample size calculations for Mendelian studies of exome and whole genome sequence data. Bioinformatics. 2019 Feb 01; 35(3):529-531. PMID: 30032240.
      View in: PubMed
    9. Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. J Med Genet. 2019 Apr; 56(4):252-260. PMID: 30661052.
      View in: PubMed
    10. Faridi R, Tona R, Brofferio A, Hoa M, Olszewski R, Schrauwen I, Assir MZK, Bandesha AA, Khan AA, Rehman AU, Brewer C, Ahmed W, Leal SM, Riazuddin S, Boyden SE, Friedman TB. Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome. Hum Mutat. 2019 Feb; 40(2):162-176. PMID: 30461122.
      View in: PubMed
    11. 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 BL, 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, Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chirlaque MD, Cho SH, Connolly CM, 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 S, Gauderman WJ, Giles GG, Gillanders E, Gong J, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hampel H, Harlid S, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Hsu WL, Huang WY, Hudson TJ, Hunter DJ, Ibañez-Sanz G, Idos GE, Ingersoll R, Jackson RD, Jacobs EJ, Jenkins MA, Joshi AD, Joshu CE, Keku TO, Key TJ, Kim HR, Kobayashi E, Kolonel LN, Kooperberg C, Kühn T, Küry S, Kweon SS, 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 MH, Shulman K, Sieri S, Slattery ML, Southey MC, Stadler ZK, Stegmaier C, Su YR, 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 SH, Zanke BW, Zhang Q, Zheng W, Scacheri PC, Potter JD, Bassik MC, Kundaje A, Casey G, Moreno V, Abecasis GR, Nickerson DA, Gruber SB, Hsu L, Peters U. Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet. 2019 01; 51(1):76-87. PMID: 30510241.
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    12. Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, Nickerson DA, Ahmad W, Leal SM. Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. J Hum Genet. 2019 Feb; 64(2):153-160. PMID: 30498240.
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    13. Richard EM, Santos-Cortez RLP, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, Bamshad MJ, Nickerson DA, Schrauwen I, Khan SN, Morell RJ, Zafar S, Ansar M, Ahmed ZM, Ahmad W, Riazuddin S, Friedman TB, Leal SM, Riazuddin S. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Hum Mutat. 2019 Jan; 40(1):53-72. PMID: 30303587.
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    14. Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, Ansar M, Ahmad W, Ahmed ZM, Leal SM. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb; 34(2):375-386. PMID: 30395363.
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    15. Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM, Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM. FUT2 Variants Confer Susceptibility to Familial Otitis Media. Am J Hum Genet. 2018 11 01; 103(5):679-690. PMID: 30401457.
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    16. 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, Nickerson DA, Ahmad W, Ansar M, Leal SM. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2018 09 04; 59(11):4552-4557. PMID: 30208423.
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    17. Liaqat K, Chiu I, Lee K, Chakchouk I, Andrade-Elizondo PB, Santos-Cortez RLP, Hussain S, Nawaz S, Ansar M, Khan MN, Basit S, Schrauwen I, Ahmad W, Leal SM. Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment. J Hum Genet. 2018 Nov; 63(11):1099-1107. PMID: 30177809.
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    18. Chiong CM, Reyes-Quintos MRT, Yarza TKL, Tobias-Grasso CAM, Acharya A, Leal SM, Mohlke KL, Mayol NL, Cutiongco-de la Paz EM, Santos-Cortez RLP. The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees. Otol Neurotol. 2018 09; 39(8):e726-e730. PMID: 30113565.
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    19. 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. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Hum Genet. 2018 Sep; 137(9):735-752. PMID: 30167849.
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    20. Schrauwen I, Chakchouk I, Acharya A, Liaqat K, Nickerson DA, Bamshad MJ, Shah K, Ahmad W, Leal SM. Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet. 2018 07 20; 19(1):122. PMID: 30029624.
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    21. Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Hum Genet. 2018 Jul; 137(6-7):471-478. PMID: 29971487.
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    22. Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM. MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants. Genet Med. 2019 01; 21(1):144-151. PMID: 29925964.
      View in: PubMed
    23. Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK, Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. Am J Hum Genet. 2018 04 05; 102(4):706-712. PMID: 29625025.
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    24. Ahmad F, Ahmed I, Nasir A, Umair M, Shahzad S, Muhammad D, Santos-Cortez RLP, Leal SM, Ahmad W. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. Eur J Dermatol. 2018 Apr 01; 28(2):209-216. PMID: 29611532.
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    25. Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W. A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type. Ann Hum Genet. 2018 05; 82(3):129-134. PMID: 29322508.
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    26. Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec; 56(12):1406-1413. PMID: 29130490.
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    27. Guo DC, Hostetler EM, Fan Y, Kulmacz RJ, Zhang D, Nickerson DA, Leal SM, LeMaire SA, Regalado ES, Milewicz DM. Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. J Am Coll Cardiol. 2017 11 28; 70(21):2728-2730. PMID: 29169482.
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    28. 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. 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. 2017; 12(11):e0186518. PMID: 29161273.
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    29. Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet. 2017 10; 25(10):1155-1161. PMID: 28905881.
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    30. Zhang D, Zhao L, Li B, He Z, Wang GT, Liu DJ, Leal SM. SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data. Am J Hum Genet. 2017 Jul 06; 101(1):115-122. PMID: 28669402.
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    31. He Z, Zhang D, Renton AE, Li B, Zhao L, Wang GT, Goate AM, Mayeux R, Leal SM. Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. Am J Hum Genet. 2017 02 02; 100(2):371. PMID: 28157542.
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    32. Auer PL, Leal SM. From exomes to genomes: challenges and solutions in population-based genetic association studies. Eur J Hum Genet. 2017 04; 25(4):395-396. PMID: 28120836.
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    33. He Z, Zhang D, Renton AE, Li B, Zhao L, Wang GT, Goate AM, Mayeux R, Leal SM. The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data. Am J Hum Genet. 2017 02 02; 100(2):193-204. PMID: 28065470.
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    34. Santos-Cortez RL, Hutchinson DS, Ajami NJ, Reyes-Quintos MR, Tantoco ML, Labra PJ, Lagrana SM, Pedro M, Llanes EG, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Belmont JW, Chonmaitree T, Abes GT, Petrosino JF, Leal SM, Chiong CM. Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016 Nov 01; 5(1):97. PMID: 27799062.
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    35. Auer PL, Reiner AP, Wang G, Kang HM, Abecasis GR, Altshuler D, Bamshad MJ, Nickerson DA, Tracy RP, Rich SS, Leal SM. Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. Am J Hum Genet. 2016 Oct 06; 99(4):791-801. PMID: 27666372.
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    36. 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. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness. Hum Mutat. 2016 10; 37(10):991-1003. PMID: 27375115.
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    37. Santos-Cortez RL, Reyes-Quintos MR, Tantoco ML, Abbe I, Llanes EG, Ajami NJ, Hutchinson DS, Petrosino JF, Padilla CD, Villarta RL, Gloria-Cruz TL, Chan AL, Cutiongco-de la Paz EM, Chiong CM, Leal SM, Abes GT. Genetic and Environmental Determinants of Otitis Media in an Indigenous Filipino Population. Otolaryngol Head Neck Surg. 2016 11; 155(5):856-862. PMID: 27484237.
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    38. van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P, Carrell DS, Crawford DC, Crosslin DR, Ebeling C, Eriksson JG, Fornage M, Foroud T, von Und Zu Fraunberg M, Friedrich CM, Gaál EI, Gottesman O, Guo DC, Harrison SC, Hernesniemi J, Hofman A, Inoue I, Jääskeläinen JE, Jones GT, Kiemeney LA, Kivisaari R, Ko N, Koskinen S, Kubo M, Kullo IJ, Kuivaniemi H, Kurki MI, Laakso A, Lai D, Leal SM, Lehto H, LeMaire SA, Low SK, Malinowski J, McCarty CA, Milewicz DM, Mosley TH, Nakamura Y, Nakaoka H, Niemelä M, Pacheco J, Peissig PL, Pera J, Rasmussen-Torvik L, Ritchie MD, Rivadeneira F, van Rij AM, Santos-Cortez RL, Saratzis A, Slowik A, Takahashi A, Tromp G, Uitterlinden AG, Verma SS, Vermeulen SH, Wang GT, Han B, Rinkel GJ, de Bakker PI. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. J Am Heart Assoc. 2016 07 14; 5(7). PMID: 27418160.
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    39. Du M, Jiao S, Bien SA, Gala M, Abecasis 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. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. PLoS One. 2016; 11(7):e0157521. PMID: 27379672.
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    40. Brandler WM, Antaki D, Gujral M, Noor A, Rosanio G, Chapman TR, Barrera DJ, Lin GN, Malhotra D, Watts AC, Wong LC, Estabillo JA, Gadomski TE, Hong O, Fajardo KV, Bhandari A, Owen R, Baughn M, Yuan J, Solomon T, Moyzis AG, Maile MS, Sanders SJ, Reiner GE, Vaux KK, Strom CM, Zhang K, Muotri AR, Akshoomoff N, Leal SM, Pierce K, Courchesne E, Iakoucheva LM, Corsello C, Sebat J. Frequency and Complexity of De Novo Structural Mutation in Autism. Am J Hum Genet. 2016 Apr 07; 98(4):667-79. PMID: 27018473.
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    41. Hanchard NA, Swaminathan S, Bucasas K, Furthner D, Fernbach S, Azamian MS, Wang X, Lewin M, Towbin JA, D'Alessandro LC, Morris SA, 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, Popoola M, Wadhwa L, Brook JD, Bu'Lock FA, Bhattacharya S, Lalani SR, Zender GA, Fitzgerald-Butt SM, Bowman J, Corsmeier D, White P, Lecerf K, Zapata G, Hernandez P, Goodship JA, Garg V, Keavney BD, Leal SM, Cordell HJ, Belmont JW, McBride KL. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 06 01; 25(11):2331-2341. PMID: 26965164.
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    42. Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet. 2016 Feb 16; 17:13. PMID: 26880286.
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    108. 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. Platelet microRNA-mRNA coexpression profiles correlate with platelet reactivity. Blood. 2011 May 12; 117(19):5189-97. PMID: 21415270.
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    111. DE LA Vega FM, Bustamante CD, Leal SM. GENOME-WIDE ASSOCIATION MAPPING AND RARE ALLELES: FROM POPULATION GENOMICS TO PERSONALIZED MEDICINE - Session Introduction. Pac Symp Biocomput. 2011; 74-5. PMID: 21121034.
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    112. Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74. Am J Hum Genet. 2011 Jan 07; 88(1):19-29. PMID: 21185009.
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    131. Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. Am J Hum Genet. 2008 Jan; 82(1):125-38. PMID: 18179891.
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    136. Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJ. Mitochondrial genetic background modifies breast cancer risk. Cancer Res. 2007 May 15; 67(10):4687-94. PMID: 17510395.
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    137. Frajdenberg A, Pecold K, Podfigurna-Musielak M, Rydzanicz M, Mrugacz M, Leal SM, Bejjani BA, Gajecka M. [An analysis of the fundus changes in families with high myopia]. Klin Oczna. 2007; 109(4-6):173-5. PMID: 17725279.
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    138. Mendoza G, Pemberton TJ, Lee K, Scarel-Caminaga R, Mehrian-Shai R, Gonzalez-Quevedo C, Ninis V, Hartiala J, Allayee H, Snead ML, Leal SM, Line SR, Patel PI. A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3. Hum Genet. 2007 Jan; 120(5):653-62. PMID: 17024372.
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    139. Santos RL, Häfner FM, Huygen PL, Linder TE, Schinzel AA, Spillmann T, Leal SM. Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiol Neurootol. 2006; 11(5):269-75. PMID: 16717440.
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    140. Santos RL, Hassan MJ, Sikandar S, Lee K, Ali G, Martin PE, Wambangco MA, Ahmad W, Leal SM. DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2. Hum Genet. 2006 Aug; 120(1):85-92. PMID: 16703383.
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    141. Tariq A, Santos RL, Khan MN, Lee K, Hassan MJ, Ahmad W, Leal SM. Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32. J Mol Med (Berl). 2006 Jun; 84(6):484-90. PMID: 16596430.
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    142. Mims MP, Hayes TG, Zheng S, Leal SM, Frolov A, Ittmann MM, Wheeler TM, Prchal JT. Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. Cancer Res. 2006 Feb 01; 66(3):1880; author reply 1880-1. PMID: 16452251.
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    143. El-Shanti H, Daoud A, Sadoon AA, Leal SM, Chen S, Lee K, Spiegel R. A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan. Brain Dev. 2006 Jul; 28(6):353-7. PMID: 16376507.
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    144. Santos RL, El-Shanti H, Sikandar S, Lee K, Bhatti A, Yan K, Chahrour MH, McArthur N, Pham TL, Mahasneh AA, Ahmad W, Leal SM. Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment. J Mol Med (Berl). 2006 Mar; 84(3):226-31. PMID: 16389551.
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    145. John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W. Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3. Hum Genet. 2006 Jan; 118(5):665-7. PMID: 16273389.
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    146. Leal SM. Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium. Genet Epidemiol. 2005 Nov; 29(3):204-14. PMID: 16080207.
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    147. Hassan MJ, Santos RL, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM. A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Hum Genet. 2006 Jan; 118(5):605-10. PMID: 16261342.
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    148. Leal SM, Yan K, Müller-Myhsok B. SimPed: a simulation program to generate haplotype and genotype data for pedigree structures. Hum Hered. 2005; 60(2):119-22. PMID: 16224189.
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    149. Santos RL, Wajid M, Khan MN, McArthur N, Pham TL, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour MH, Ansar M, Ahmad W, Leal SM. Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment. Hum Mutat. 2005 Oct; 26(4):396. PMID: 16134132.
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    150. Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 Sep; 1(3):e41. PMID: 16205789.
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    151. Sobngwi E, Gautier JF, Kevorkian JP, Villette JM, Riveline JP, Zhang S, Vexiau P, Leal SM, Vaisse C, Mauvais-Jarvis F. High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes. J Clin Endocrinol Metab. 2005 Aug; 90(8):4446-51. PMID: 15914531.
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    152. McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15; 134A(2):180-6. PMID: 15690347.
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    153. Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, Yan K, Ahmad W, Leal SM. A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3. Am J Med Genet A. 2005 Feb 15; 133A(1):18-22. PMID: 15641023.
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    154. Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM. Mapping of a novel autosomal recessive nonsyndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. Am J Med Genet A. 2005 Feb 15; 133A(1):23-6. PMID: 15637723.
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    155. Kaunisto MA, Tikka PJ, Kallela M, Leal SM, Papp JC, Korhonen A, Hämäläinen E, Harno H, Havanka H, Nissilä M, Säkö E, Ilmavirta M, Kaprio J, Färkkilä M, Ophoff RA, Palotie A, Wessman M. Chromosome 19p13 loci in Finnish migraine with aura families. Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 05; 132B(1):85-9. PMID: 15449251.
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    156. Bulayeva KB, Leal SM, Pavlova TA, Kurbanov RM, Glatt SJ, Bulayev OA, Tsuang MT. Mapping genes of complex psychiatric diseases in Daghestan genetic isolates. Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 05; 132B(1):76-84. PMID: 15389762.
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    157. Yuferov V, Fussell D, LaForge KS, Nielsen DA, Gordon D, Ho A, Leal SM, Ott J, Kreek MJ. Redefinition of the human kappa opioid receptor gene (OPRK1) structure and association of haplotypes with opiate addiction. Pharmacogenetics. 2004 Dec; 14(12):793-804. PMID: 15608558.
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    158. Mauvais-Jarvis F, Smith SB, Le May C, Leal SM, Gautier JF, Molokhia M, Riveline JP, Rajan AS, Kevorkian JP, Zhang S, Vexiau P, German MS, Vaisse C. PAX4 gene variations predispose to ketosis-prone diabetes. Hum Mol Genet. 2004 Dec 15; 13(24):3151-9. PMID: 15509590.
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    159. Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. J Invest Dermatol. 2004 Jul; 123(1):247-8. PMID: 15191570.
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    160. Buchinsky FJ, Derkay CS, Leal SM, Donfack J, Ehrlich GD, Post JC. Multicenter initiative seeking critical genes in respiratory papillomatosis. Laryngoscope. 2004 Feb; 114(2):349-57. PMID: 14755217.
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    161. Li TT, Larrucea S, Souza S, Leal SM, López JA, Rubin EM, Nieswandt B, Bray PF. Genetic variation responsible for mouse strain differences in integrin alpha 2 expression is associated with altered platelet responses to collagen. Blood. 2004 May 01; 103(9):3396-402. PMID: 14739220.
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    162. Ansar M, Chahrour MH, Amin Ud Din M, Arshad M, Haque S, Pham TL, Yan K, Ahmad W, Leal SM. DFNB44, a novel autosomal recessive non-syndromic hearing impairment locus, maps to chromosome 7p14.1-q11.22. Hum Hered. 2004; 57(4):195-9. PMID: 15583425.
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    163. Wajid M, Abbasi AA, Ansar M, Pham TL, Yan K, Haque S, Ahmad W, Leal SM. DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12. Eur J Hum Genet. 2003 Oct; 11(10):812-5. PMID: 14512973.
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    164. Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W. A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. Eur J Hum Genet. 2003 Aug; 11(8):623-8. PMID: 12891384.
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    165. Leal SM. Genetic maps of microsatellite and single-nucleotide polymorphism markers: are the distances accurate? Genet Epidemiol. 2003 May; 24(4):243-52. PMID: 12687641.
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    166. Das P, Hai M, Elcock C, Leal SM, Brown DT, Brook AH, Patel PI. Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia. Am J Med Genet A. 2003 Apr 01; 118A(1):35-42. PMID: 12605438.
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    167. Lesperance MM, Hall JW, San Agustin TB, Leal SM. Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss. Arch Otolaryngol Head Neck Surg. 2003 Apr; 129(4):411-20. PMID: 12707187.
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    168. Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM. Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-q27 in a consanguineous kindred from Pakistan. Hum Hered. 2003; 55(1):71-4. PMID: 12890929.
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    169. Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM. A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. Eur J Hum Genet. 2003 Jan; 11(1):77-80. PMID: 12529709.
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    170. 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. Homozygosity mapping of a locus for a novel syndromic ichthyosis to chromosome 3q27-q28. J Invest Dermatol. 2002 Jul; 119(1):70-6. PMID: 12164927.
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    171. Chen AC, LaForge KS, Ho A, McHugh PF, Kellogg S, Bell K, Schluger RP, Leal SM, Kreek MJ. Potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse. Am J Med Genet. 2002 May 08; 114(4):429-35. PMID: 11992566.
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    172. Wessman M, Kallela M, Kaunisto MA, 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. A susceptibility locus for migraine with aura, on chromosome 4q24. Am J Hum Genet. 2002 Mar; 70(3):652-62. PMID: 11836652.
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    173. DeWan AT, Parrado AR, Matise TC, Leal SM. Map error reduction: using genetic and sequence-based physical maps to order closely linked markers. Hum Hered. 2002; 54(1):34-44. PMID: 12446985.
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    174. DeWan AT, Parrado AR, Matise TC, Leal SM. The map problem: a comparison of genetic and sequence-based physical maps. Am J Hum Genet. 2002 Jan; 70(1):101-7. PMID: 11706388.
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