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SUZANNE MARGARET LEAL

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
AddressONE BAYLOR PLAZA, 700D9
HOUSTON TX 77030
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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. Khan S, Ansar M, Kamal Khan A, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family. Br J Dermatol. 2017 May 15. PMID: 28504827.
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    2. 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 Feb 02; 100(2):371. PMID: 28157542.
      View in: PubMed
    3. Auer PL, Leal SM. From exomes to genomes: challenges and solutions in population-based genetic association studies. Eur J Hum Genet. 2017 Jan 25. PMID: 28120836.
      View in: PubMed
    4. 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.
      View in: PubMed
    5. 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 Oct; 37(10):991-1003. PMID: 27375115; PMCID: PMC5021573 [Available on 10/01/17].
    6. 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. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. J Am Heart Assoc. 2016; 5(7). PMID: 27418160.
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    7. Lebeko K, Sloan-Heggen CM, Noubiap JJ, Dandara C, Kolbe DL, Ephraim SS, Booth KT, Azaiez H, Santos-Cortez RL, Leal SM, Smith RJ, Wonkam A. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families. Clin Genet. 2016 Sep; 90(3):288-90. PMID: 27246798.
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    8. 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 7; 98(4):667-79. PMID: 27018473; PMCID: PMC4833290 [Available on 10/07/16].
    9. 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 Mar 9. PMID: 26965164.
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    10. Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. BMC Med Genet. 2016; 17:13. PMID: 26880286; PMCID: PMC4754937.
    11. Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, Nickerson DA, Santos-Cortez RL, Dong X, Leal SM, Majesky MW, Swindell EC, Jamrich M, Milewicz DM. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. J Clin Invest. 2016 Mar 1; 126(3):948-61. PMID: 26854927; PMCID: PMC4767350.
    12. Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang 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 ZE, Smith JD, Nickerson DA, Bamshad MJ. Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2. Am J Hum Genet. 2016 Feb 4; 98(2):331-8. PMID: 26805784; PMCID: PMC4746333 [Available on 08/04/16].
    13. 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. Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. Clin Genet. 2016 Jun; 89(6):719-23. PMID: 26621581; PMCID: PMC4873375 [Available on 06/01/17].
    14. Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Ida Chen YD, Dupuis J, Fox CS, Gross MD, Smith JD, Heard-Costa N, Meigs JB, Pankow JS, Rotter JI, Siscovick D, Wilson JG, Shendure J, Jackson R, Peters U, 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. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. Eur J Hum Genet. 2016 Aug; 24(8):1181-7. PMID: 26757982.
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    15. Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circ Res. 2016 Mar 18; 118(6):928-34. PMID: 26838787; PMCID: PMC4839295 [Available on 03/18/17].
    16. Auer PL, Reiner AP, Leal SM. The effect of phenotypic outliers and non-normality on rare-variant association testing. Eur J Hum Genet. 2016 Aug; 24(8):1188-94. PMID: 26733287.
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    17. Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. Eur J Hum Genet. 2016 Aug; 24(8):1223-7. PMID: 26695873.
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    18. Ahmad F, Ansar M, Mehmood S, Izoduwa A, Lee K, Nasir A, Abrar M, Mehmood S, Ullah A, Aziz A. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. J Eur Acad Dermatol Venereol. 2016 Dec; 30(12):e210-e213. PMID: 26691440.
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    19. Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, Ahmad W. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. Int J Dermatol. 2016 May; 55(5):524-30. PMID: 26578203.
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    20. Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. PLoS Genet. 2015 Jul; 11(7):e1005386. PMID: 26197441.
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    21. Li B, Wang GT, Leal SM. Generation of sequence-based data for pedigree-segregating Mendelian or Complex traits. Bioinformatics. 2015 Nov 15; 31(22):3706-8. PMID: 26177964.
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    22. Ansar M, Raza SI, Lee K. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. J Med Genet. 2015 Oct; 52(10):676-80. PMID: 26160856.
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    23. Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet. 2015 Aug 6; 97(2):199-215. PMID: 26166479.
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    24. Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, Gloria-Cruz TL, Chan AL, Wang GT, Daly KA, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM. Rare A2ML1 variants confer susceptibility to otitis media. Nat Genet. 2015 Aug; 47(8):917-20. PMID: 26121085.
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    25. Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M. Mutation of ATF6 causes autosomal recessive achromatopsia. Hum Genet. 2015 Sep; 134(9):941-50. PMID: 26063662.
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    26. Qayyum R, Becker LC, Becker DM, Faraday N, Yanek LR, Leal SM, Shaw C, Mathias R, Suktitipat B, Bray PF. Genome-wide association study of platelet aggregation in African Americans. BMC Genet. 2015; 16:58. PMID: 26024889.
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    27. Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE. Excess of rare, inherited truncating mutations in autism. Nat Genet. 2015 Jun; 47(6):582-8. PMID: 25961944.
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    28. Wang GT, Zhang D, Li B, Dai H, Leal SM. Collapsed haplotype pattern method for linkage analysis of next-generation sequence data. Eur J Hum Genet. 2015 Dec; 23(12):1739-43. PMID: 25873013.
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    29. Ott J, Wang J, Leal SM. Genetic linkage analysis in the age of whole-genome sequencing. Nat Rev Genet. 2015 May; 16(5):275-84. PMID: 25824869; PMCID: PMC4440411.
    30. Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, Debacker J. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet. 2015 Jan 8; 96(1):170-7. PMID: 25557781; PMCID: PMC4289682.
    31. Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet. 2015 Sep; 23(9):1207-15. PMID: 25491636.
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    32. O'Connor TD, Fu W. Rare variation facilitates inferences of fine-scale population structure in humans. Mol Biol Evol. 2015 Mar; 32(3):653-60. PMID: 25415970; PMCID: PMC4327153.
    33. Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke. 2014 Nov; 45(11):3200-7. PMID: 25278557; PMCID: PMC4420622.
    34. Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Ardissino D, Shah S, Willer C, Loos R, Melander O, Mcpherson R, Hovingh K, Reilly M, Watkins H, Girelli D, Fontanillas P, Chasman DI, Gabriel SB, Gibbs R, Nickerson DA, Kathiresan S, Peters U, Dupuis J, Wilson JG, Rich SS, Morrison AC, Benjamin EJ, Gross MD, Reiner AP. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Hum Mol Genet. 2015 Jan 15; 24(2):559-71. PMID: 25187575; PMCID: PMC4334838.
    35. Wang L, Yamaguchi S, Burstein MD, Terashima K, Chang K, Ng HK, 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. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 Jul 10; 511(7508):241-5. PMID: 24896186; PMCID: PMC4532372.
    36. Wang GT, Peng B, Leal SM. Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. Am J Hum Genet. 2014 May 1; 94(5):770-83. PMID: 24791902; PMCID: PMC4067555.
    37. Wang GT, Li B, Santos-Cortez RP, Peng B, Leal SM. Power analysis and sample size estimation for sequence-based association studies. Bioinformatics. 2014 Aug 15; 30(16):2377-8. PMID: 24778108; PMCID: PMC4133582.
    38. 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. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014 Apr 24; 508(7497):469-76. PMID: 24759409; PMCID: PMC4180223.
    39. Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Hum Mol Genet. 2014 Jun 15; 23(12):3289-98. PMID: 24482543; PMCID: PMC4030782.
    40. Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. Am J Hum Genet. 2014 Jan 2; 94(1):144-52. PMID: 24387994; PMCID: PMC3882911.
    41. He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. Am J Hum Genet. 2014 Jan 2; 94(1):33-46. PMID: 24360806; PMCID: PMC3882934.
    42. Li B, Wang G, Leal SM. PhenoMan: phenotypic data exploration, selection, management and quality control for association studies of rare and common variants. Bioinformatics. 2014 Feb 1; 30(3):442-4. PMID: 24336645; PMCID: PMC3904519.
    43. Kambur O, Kaunisto MA, Tikkanen E, Leal SM, Ripatti S, Kalso EA. Effect of catechol-o-methyltransferase-gene (COMT) variants on experimental and acute postoperative pain in 1,000 women undergoing surgery for breast cancer. Anesthesiology. 2013 Dec; 119(6):1422-33. PMID: 24343288; PMCID: PMC4869072.
    44. Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet. 2013 Aug 8; 93(2):398-404. PMID: 23910461; PMCID: PMC3738837.
    45. O'Connor TD, Kiezun A, Bamshad M, Rich SS, Smith JD, Turner E. Fine-scale patterns of population stratification confound rare variant association tests. PLoS One. 2013; 8(7):e65834. PMID: 23861739; PMCID: PMC3701690.
    46. Li B, Liu DJ, Leal SM. Identifying rare variants associated with complex traits via sequencing. Curr Protoc Hum Genet. 2013 Jul; Chapter 1:Unit 1.26. PMID: 23853079; PMCID: PMC3830981.
    47. Wiszniewski W, Hunter JV, Hanchard NA, Willer JR, Shaw C, Tian Q, Illner A, Wang X, Cheung SW, Patel A, Campbell IM, Gelowani V, 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 NS, 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, Pruthi S, Omary R, Boyadjiev SA, Win KK, Thida A, Hurles M, Hibberd ML, Khor CC, Van Vinh Chau N, Gallagher TE, Mutirangura A, Stankiewicz P, Beaudet AL, Maletic-Savatic M, Rosenfeld JA, Shaffer LG, Davis EE, Belmont JW, Dunstan S, Simmons CP, Bonnen PE, Leal SM, Katsanis N, Lupski JR, Lalani SR. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 8; 93(2):197-210. PMID: 23810381; PMCID: PMC3738832.
    48. Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. Am J Hum Genet. 2013 Jul 11; 93(1):132-40. PMID: 23768514; PMCID: PMC3710764.
    49. Auer PL, Wang G, Leal SM. Testing for rare variant associations in the presence of missing data. Genet Epidemiol. 2013 Sep; 37(6):529-38. PMID: 23757187; PMCID: PMC4459641.
    50. Jenkinson EM, 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. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013 Apr 4; 92(4):605-13. PMID: 23541340; PMCID: PMC3617381.
    51. Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 2013 Jan 10; 493(7431):216-20. PMID: 23201682; PMCID: PMC3676746.
    52. Lee K, Chiu I, Santos-Cortez RL, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM. Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families. Clin Genet. 2013 Sep; 84(3):294-6. PMID: 23173898.
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    53. Liu DJ, Leal SM. A unified method for detecting secondary trait associations with rare variants: application to sequence data. PLoS Genet. 2012; 8(11):e1003075. PMID: 23166519; PMCID: PMC3499373.
    54. McDonald ML, MacMullen C, Liu DJ, Leal SM, Davis RL. Genetic association of cyclic AMP signaling genes with bipolar disorder. Transl Psychiatry. 2012; 2:e169. PMID: 23032945; PMCID: PMC3565822.
    55. Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha 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 GI, Leal SM, Friedman TB, Ahmed ZM. Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet. 2012 Nov; 44(11):1265-71. PMID: 23023331; PMCID: PMC3501259.
    56. Liu DJ, Leal SM. Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations. Am J Hum Genet. 2012 Oct 5; 91(4):585-96. PMID: 23022102; PMCID: PMC3484659.
    57. Li B, Wang G, Leal SM. SimRare: a program to generate and analyze sequence-based data for association studies of quantitative and qualitative traits. Bioinformatics. 2012 Oct 15; 28(20):2703-4. PMID: 22914216; PMCID: PMC3467746.
    58. Cheung YH, Wang G, Leal SM, Wang S. A fast and noise-resilient approach to detect rare-variant associations with deep sequencing data for complex disorders. Genet Epidemiol. 2012 Nov; 36(7):675-85. PMID: 22865616.
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    59. Ng CS, Wu P, Foley J, Foley A, McDonald ML, Juan WT, Huang CJ, Lai YT, Lo WS, Chen CF, Leal SM, Zhang H, Widelitz RB, Patel PI, Li WH, Chuong CM. The chicken frizzle feather is due to an ?-keratin (KRT75) mutation that causes a defective rachis. PLoS Genet. 2012; 8(7):e1002748. PMID: 22829773; PMCID: PMC3400578.
    60. Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 2012 Aug; 44(8):916-21. PMID: 22772371; PMCID: PMC4033668.
    61. 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, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012 Jul 6; 337(6090):64-9. PMID: 22604720; PMCID: PMC3708544.
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    135. 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; PMCID: PMC1361302.
    136. 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; PMCID: PMC2909096.
    137. 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; PMCID: PMC2909100.
    138. 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 5; 132B(1):85-9. PMID: 15449251.
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    139. 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 5; 132B(1):76-84. PMID: 15389762.
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    140. Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM. Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clin Genet. 2005 Jan; 67(1):61-8. PMID: 15617550; PMCID: PMC2909104.
    141. 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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    142. Aslam M, Chahrour MH, Razzaq A, Haque S, Yan K, Leal SM, Ahmad W. A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. J Med Genet. 2004 Nov; 41(11):849-52. PMID: 15520410; PMCID: PMC1735610.
    143. 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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    144. Rafiq MA, Ansar M, Pham T, Amin-ud-Din M, Anwar M, Haque S, Chahrour MH, Yan K, Leal SM, Ahmad W. Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3. Clin Genet. 2004 Jul; 66(1):73-8. PMID: 15200512.
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    145. 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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    146. Bart G, Heilig M, LaForge KS, Pollak L, Leal SM, Ott J, Kreek MJ. Substantial attributable risk related to a functional mu-opioid receptor gene polymorphism in association with heroin addiction in central Sweden. Mol Psychiatry. 2004 Jun; 9(6):547-9. PMID: 15037869.
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    147. 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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    148. 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 1; 103(9):3396-402. PMID: 14739220.
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    149. 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; PMCID: PMC2920138.
    150. 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; PMCID: PMC2909101.
    151. Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov; 73(5):1082-91. PMID: 13680526; PMCID: PMC1180488.
    152. 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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    153. 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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    154. 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 1; 118A(1):35-42. PMID: 12605438.
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    155. 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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    156. Bulaeva KB, Pavlova TA, Kurbanov RM, Leal S, Bulaev OA. [Genetic and epidemiological studies in Dagestan highland isolates]. Genetika. 2003 Mar; 39(3):413-22. PMID: 12722642.
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    157. 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; PMCID: PMC2917542.
    158. 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; PMCID: PMC2909108.
    159. Varga R, Kelley PM, Keats BJ, Starr A, Leal SM, Cohn E, Kimberling WJ. Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene. J Med Genet. 2003 Jan; 40(1):45-50. PMID: 12525542; PMCID: PMC1735255.
    160. DeWan AT, Parrado AR, Leal SM. A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. Clin Genet. 2003 Jan; 63(1):39-45. PMID: 12519370.
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    161. 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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    162. 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 8; 114(4):429-35. PMID: 11992566.
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    163. 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; PMCID: PMC384944.
    164. 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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    165. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, Shanks CA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G, Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001 Dec; 74(4):458-75. PMID: 11749051.
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    166. 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; PMCID: PMC384881.
    167. Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM. Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. Hum Mol Genet. 2001 Oct 15; 10(22):2501-8. PMID: 11709537.
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    168. Cigler T, LaForge KS, McHugh PF, Kapadia SU, Leal SM, Kreek MJ. Novel and previously reported single-nucleotide polymorphisms in the human 5-HT(1B) receptor gene: no association with cocaine or alcohol abuse or dependence. Am J Med Genet. 2001 Aug 8; 105(6):489-97. PMID: 11496363.
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    169. Wille A, Leal SM. Novel selection criteria for genome scans of complex traits. Genet Epidemiol. 2001; 21 Suppl 1:S800-4. PMID: 11793781.
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    170. Hu FZ, Preston RA, Post JC, White GJ, Kikuchi LW, Wang X, Leal SM, Levenstien MA, Ott J, Self TW, Allen G, Stiffler RS, McGraw C, Pulsifer-Anderson EA, Ehrlich GD. Mapping of a gene for severe pediatric gastroesophageal reflux to chromosome 13q14. JAMA. 2000 Jul 19; 284(3):325-34. PMID: 10891964.
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    171. Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Rimer L, Davis K, Khardori R, Gelber D. Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genet Med. 2000 Jul-Aug; 2(4):232-41. PMID: 11252708.
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    172. Bulayeva KB, Leal SM, Pavlova TA, Kurbanov R, Coover S, Bulayev O, Byerley W. The ascertainment of multiplex schizophrenia pedigrees from Daghestan genetic isolates (Northern Caucasus, Russia). Psychiatr Genet. 2000 Jun; 10(2):67-72. PMID: 10994643.
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    173. Salam AA, Häfner FM, Linder TE, Spillmann T, Schinzel AA, Leal SM. A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet. 2000 Jun; 66(6):1984-8. PMID: 10777717; PMCID: PMC1378045.
    174. Häfner FM, Salam AA, Linder TE, Balmer D, Baumer A, Schinzel AA, Spillmann T, Leal SM. A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. Am J Hum Genet. 2000 Apr; 66(4):1437-42. PMID: 10739769; PMCID: PMC1288211.
    175. Leal SM, Ott J. Effects of stratification in the analysis of affected-sib-pair data: benefits and costs. Am J Hum Genet. 2000 Feb; 66(2):567-75. PMID: 10677317; PMCID: PMC1288110.
    176. Gordon D, Leal SM, Heath SC, Ott J. An analytic solution to single nucleotide polymorphism error-detection rates in nuclear families: implications for study design. Pac Symp Biocomput. 2000; 663-74. PMID: 10902214.
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    177. 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, Gordon D, Leal SM, Goldsmith R, Andreu AL, Bruno C, DiMauro S, Leibel RL, et al. Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis. Diabetes. 1999 Sep; 48(9):1890-5. PMID: 10480626.
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    178. 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, Lowell BB, Allison DB, Leibel RL. The long isoform uncoupling protein-3 (UCP3L) in human energy homeostasis. Int J Obes Relat Metab Disord. 1999 Jun; 23 Suppl 6:S49-50. PMID: 10454123.
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    179. Winick JD, Blundell ML, Galke BL, Salam AA, Leal SM, Karayiorgou M. Homozygosity mapping of the Achromatopsia locus in the Pingelapese. Am J Hum Genet. 1999 Jun; 64(6):1679-85. PMID: 10330355; PMCID: PMC1377911.
    180. Leal SM, Heath SC. Searching for alcoholism susceptibility genes using Markov chain Monte Carlo methods. Genet Epidemiol. 1999; 17 Suppl 1:S217-22. PMID: 10597439.
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    181. Alkhateeb A, al-Alami J, Leal SM, el-Shanti H, Alkbateeb A. Fine mapping of progressive pseudorheumatoid dysplasia: a tool for heterozygote identification. Genet Test. 1999; 3(4):329-33. PMID: 10627939.
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    182. Apaydin F, Pfister M, Iber M, Kandogan T, Leal SM, Brändle U, Cura O, Zenner HP. [Hereditary deafness in Turkey. Initial results]. HNO. 1998 Sep; 46(9):809-14. PMID: 9816535.
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    183. 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. Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. Proc Natl Acad Sci U S A. 1998 Aug 4; 95(16):9608-13. PMID: 9689128; PMCID: PMC21386.
    184. Leal SM, Apaydin F, Barnwell C, Iber M, Kandogan T, Pfister M, Braendle U, Cura O, Schwalb M, Zenner HP, Vitale E. A second middle eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9. Eur J Hum Genet. 1998 Jul-Aug; 6(4):341-4. PMID: 9781041.
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    185. Wilhelmsen K, Mirel D, Marder K, Bernstein M, Naini A, Leal SM, Cote LJ, Tang MX, Freyer G, Graziano J, Mayeux R. Is there a genetic susceptibility locus for Parkinson's disease on chromosome 22q13? Ann Neurol. 1997 Jun; 41(6):813-7. PMID: 9189044.
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    186. Scott WK, Speer MC, Leal SM, Brzustowicz LM, Haynes CS, Pericak-Vance MA. False positive rates in a genomic screen for complex quantitative traits. Genet Epidemiol. 1997; 14(6):891-6. PMID: 9433596.
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    187. Leal SM, Ott J. Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance. Genet Epidemiol. 1997; 14(6):1097-100. PMID: 9433630.
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    188. Peters U, Senger G, Rählmann M, Du Chesne I, Stec I, Köhler MR, Weissenbach J, Leal SM, Koch HG, Deufel T, Harms E. Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13. Eur J Hum Genet. 1997 Jan-Feb; 5(1):9-14. PMID: 9156315.
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    189. Ranta S, Lehesjoki AE, Hirvasniemi A, Weissenbach J, Ross B, Leal SM, de la Chapelle A, Gilliam TC. Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. Genome Res. 1996 May; 6(5):351-60. PMID: 8743986.
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    190. Leal SM, Ott J. Variability of genotype-specific penetrance probabilities in the calculation of risk support intervals. Genet Epidemiol. 1995; 12(6):859-62. PMID: 8788022.
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    191. Leal SM, Ott J. A likelihood approach to calculating risk support intervals. Am J Hum Genet. 1994 May; 54(5):913-7. PMID: 8178830; PMCID: PMC1918257.
    192. Andrade JL, Leal SM, Campos Filho O, Carvalho AC, Tebexreni AS, Lima VC. Contrast echocardiography during cardiac catheterization in patients with congenital heart diseases. Cathet Cardiovasc Diagn. 1993 Jun; 29(2):117-21. PMID: 8348595.
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    193. Leal SM, Ott J. A bootstrap approach to estimating power for linkage heterogeneity. Genet Epidemiol. 1993; 10(6):465-70. PMID: 8314045.
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    194. Medori R, Tritschler HJ, LeBlanc A, Villare F, Manetto V, Chen HY, Xue R, Leal S, Montagna P, Cortelli P, et al. Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene. N Engl J Med. 1992 Feb 13; 326(7):444-9. PMID: 1346338.
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    195. Musarella MA, Anson-Cartwright L, Leal SM, Gilbert LD, Worton RG, Fishman GA, Ott J. Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics. 1990 Oct; 8(2):286-96. PMID: 1979051.
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