skip to content »

Leal Lab

Houston, Texas

The Cullen Building at Baylor College of Medicine.
Molecular and Human Genetics - Center for Statistical Genetics
not shown on screen

Suzanne Leal, Ph.D.

Suzanne Leal, Ph.D.

Contact information

Professor and Director of the Center for Statistical Genetics
Department of Molecular and Human Genetics
Baylor College of Medicine
Jewish Building 700D
One Baylor Plaza
Houston, TX 77030

Phone: 713-798-4011
Fax: 713-798-4012
E-mail: sleal@bcm.edu

Research Interests

Suzanne Leal's interest in statistical genetics/genetic epidemiology lies in the mapping of complex and Mendelian traits and understanding gene-gene and gene-environment interactions. In addition to applied work of localizing disease loci through statistical genetic methods, she is interested in methodological research.

The methodological aspect of her work has included the development of the SimPed program which can stimulate haplotype and genotype data for thousands of marker loci for large complex pedigree structures. She has examined the ability to detect genotyping error and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium (HWE) as well as studied the effect of ascertainment on deviation from HWE. Suzanne recently examined the effect of intermarker linkage disequilibrium in consanguineous pedigrees and demonstrated that missing genotype data from any pedigree member can increase false-positive evidence of linkage. Currently, a major interest of Suzanne's group is the development of methods to analyze rare variants. This research has lead to the development of the Combined Multivariate and Collapsing (CMC) and the Kernel Based Adaptive Cluster (KBAC) methods to test for rare variant associations with Complex Traits. With the development of next generation sequencing technologies (e.g. 454, Solexa, SOLiD) which will provide a wealth of data on rare variants these methodological tools will become increasingly important.

On the applied side, Dr. Leal has studied of a variety of phenotypes including: opiate metabolism, pain perception, platelet reactivity, bipolar disorder, prostate cancer, breast cancer and coronary diseases (i.e. LVOTO and aneurism and dissection) and non-syndromic hearing loss. A variety of statistical genetic methods are implemented to analyze the data including parametric and non-parametric linkage analyses and statistical methods for association studies.

Suzanne is the principal investigator of a study on non-syndromic hearing impairment (NSHI) which is supported by the NIH-NIDCD. The study is recruiting individuals with a family history of NSHI from Pakistan, Switzerland, Jordan, Turkey, and the United States and thus far has ascertained over 400 families with NSHI. The major goals of the study are to localize and identify NSHI genes. Additional goals of the study include understanding genotyping/phenotype relationships and prevalence of specific loci/mutations. The study has lead to the identification of a number of genes for NSHI (ACTG1, HGF, ESRRB and WFS1) and novel loci including DFNA23, DFNA24, DFNB35, DFNB38, DFNB39, DFNB44, DFNB45, DFNB46, DFNB47, DFNB55, DFNB62, DFNB65, DFNB68 and DNFB71. The spectrum of variants and the population-specific prevalence rates have also been studied for NSHI genes GJB2, TMC1, TMIE and TRIC.

She is also involved in teaching courses in statistical genetics and organizes annual gene mapping courses at the Rockefeller University (New York, NY, USA), Max Delbrück Center (Berlin, Germany) and Helmholtz Institute (Munich, Germany). Additionally in recent years she has taught statistical genetic courses at Beijing University (Beijing, Peoples Republic of China), European School of Statistical Genetics (Bologna, Italy) Erasmus University (Rotterdam, the Netherlands), Seoul National University (Seoul, Korea), University of Helsinki (Helsinki, Finland) and University of Oslo (Oslo, Norway). These courses cover the theoretical aspects of statistical analysis with hands-on experience of analyzing data.

Education

  • Postdoc, University of Tübingen, Tübingen, Germany
  • Ph.D. Columbia University, New York
  • MSc Columbia University, New York
  • BSc Fordham University, New York

Other Institutional Affiliations

Other Professional Affiliations

Publications

View a Pubmed listing of Dr. Leal's publications (sort in Pubmed by date to view latest publications):

  • 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 8:286-296
  • 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: 444-449
  • 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 42:1859-1863
  • Leal SM, Ott J (1993): A bootstrap approach to estimating power under linkage heterogeneity. Genetic Epidemiology 10:465-470
  • Leal SM, Ott J (1994): A likelihood approach to calculating a risk support interval. American Journal of Human Genetics 54:913-917
  • Leal SM, Ott J (1995): Variability of genotype specific penetrance probabilities in the calculation of risk support intervals. Genetic Epidemiology 12:859-862
  • 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 33:151-154
  • 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 6:351-336
  • Peters U, Senger G, Rählmann M, Du Chesne I, Stec I, Köhler MR, Weissenbach J, Leal SM, Koch HG, Deufel T, Harms E (1997): Integrated genetic and physical map and construction of a YAC contig comprising the refined cystinosis critical region on chromosome 17p13. European Journal of Human Genetics 5:9-14
  • 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 41:813-817
  • Leal SM, Ott J (1997): Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance. Genetic Epidemiology 14:1097-1100
  • 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 14:891-896
  • 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: 9608-9613
  • 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: 341-344
  • 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
  • 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 64:1679-1685
  • Chung WK, Luke A, 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): Uncoupling protein 3 (UCP3): Mutation and linkage analysis for possible role in adiposity of African Americans. Diabetes 48:1890-1895
  • 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: (1999): The long isoform uncoupling protein-2 (UCP3L) in human energy homeostasis. International Journal of Obesity. 23:Suppl 6, 49-50
  • Leal SM, Heath SC (1999): Searching for alcoholism susceptibility genes using MCMC methodsGenetic Epidemiology 17:Suppl 1, 217-222
  • Alkhateeb A, Al-Alami J, Leal SM, El-Shanti HE (1999): Fine mapping and further evidence of locus homogeneity for Progressive Pseudorheumatoid Dysplasia. Genetic Testing 3:329-33.
  • 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 663-674
  • Leal SM, Ott J (2000): Effects of Stratification in the Analysis of Affected Sib-Pair Data: Benefits and Costs. American Journal of Human Genetics 66:567-575
  • 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 66:1437-1442
  • 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 66:1984-1988
  • 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 28:325-334
  • 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
  • KimonisVE, KovachMJ, WaggonerB, Leal S, Salam A, DavisK, KhardoriR, 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 2:232-241
  • 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 105:489-497
  • Wille A, Leal SM (2001): Novel selection criteria for genome scans of complex traits. Genetic Epidemiology 21(Suppl 1):S800-S804
  • 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 10:2501-2508
  • 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
  • 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 70:101-107
  • 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 70:652-662
  • 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 114:429-435
  • 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 119:70-76
  • 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
  • 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
  • DeWan AT, Parrado AR, Leal SM (2003) A Second Kindred linked to DFNA20 (17q25.3) Reduces the Genetic Interval. Clinical Genetics 63:39-45.
  • AnsarM, Amin ud DinM, ArshadM, SohailM, Faiyaz-Ul-HaqueM, 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
  • 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 hypodontia. American Journal of Medical Genetic 118A:35-42
  • Bulayeva KB, Pavlova TA, Kurbanov, Leal S, Bulayev OA (2003) Genetic and Epidemiological Studies in Daghestan Highland Isolates. Genetika 39:413-422
  • 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 129:411-420
  • Leal SM (2003) Genetic maps of microsatellite and SNP markers: Are the distances accurate? Genetic Epidemiology 24:243-252
  • AnsarM, RamzanM, PhamTL, Yan K, JamalSM, HaqueS, Ahmad W, Leal SM (2003) Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-6q27in consanguineous kindred from Pakistan. Human Heredity 55:71-74
  • 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: 623-628
  • Wajid M, Al Abbasi A, Ansar M, PhamTL, 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 11:812-815
  • 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 73:1082-1091
  • 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
  • Li T-T, Larrucea S, Souza S, Leal SM, López JA, RubinEM, NieswandtB, Bray PF (2004) Genetic variation responsible for mouse strain differences in Integrin α2 expression is associated with altered responses to collagen. Blood 103:3396-3402
  • 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 9:547-549
  • 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 66:73-78
  • 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 123:247-24
  • 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 41:849-852
  • 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 13:3151-3159
  • 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 57:195-199
  • 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
  • BulayevaKB, Leal SM, PavlovaTA, Kurbanov RM, GlattSJ, BulayevOA, TsuangMT (2005) Mapping genes of complex psychiatric diseases in Daghestan genetic isolates. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 132B:76-84
  • 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:85-89
  • 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 67:61-68
  • Aslam M, WajidM, ChahrourMH, AnsarM, HaqueS, PhamTL, 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
  • MirA, AnsarM, ChahrourMH, PhamTL,WajidM, HaqueS, K Yan, Wasim 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:23-26
  • McBride M, Pignatelli R, Lewin M, HoT, 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:180-186
  • 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 42:551-557
  • Sobngwi, Gautier J-F, Kevorkian J-F, Villette J-M, Reveline J-P, ZhangS, 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 90:4446-4451
  • 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 68:262-267
  • Santos RLP, Wajid M, Khan M, McArthur N, PhamT, Bhatti A, LeeK, 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
  • 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
  • Leal SM, Yan K, Müller-Myhsok B (2005) SimPed: A simulation program to generate haplotype and genotype data for pedigree structures. Human Heredity 60:119-122
  • Leal SM (2005) Detecting genotyping errors and pseudo-SNPs via deviations from Hardy Weinberg. Genetic Epidemiology 29:204-214
  • Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P; International HapMap Consortium (2005) A haplotype map of the human genome. Nature 437:1299-320
  • Hassan MJ, Santos RLP, Rafiq MA, Chahrour MH, PhamTL,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
  • John P, Ali G, Chishti1 MS, Naqvi SMS, Leal SM, Ahmad W. (2006) A Novel Locus for Alopecia with Mental Retardation Syndrome to Chromosome 3q26.33-q27.3. Human Genetics 118:665-667
  • 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 6:1880-1881
  • SantosRLP,El-Shanti H, SikandarS, BhattiA, Yan K, ChahrourM, LeeK, MahasnehAA, McArthurN, PhamTL, 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 84:226-231
  • 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 43:274-279
  • 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
  • Ali G, Santos RLP, John P, LeeK, 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
  • Santos RLP, 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 11:269-275
  • 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
  • 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
  • Santos RLP, Hassan MJ, Sikandar S, Lee K, Ali G, Martin Jr. PE, 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
  • 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 70:233-239
  • 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 Dermatology 155:1184-90
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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. 2007 449:913-8
  • 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
  • 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
  • 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
  • Chishti MS, Bhatti A, Tamim S, Lee K, McDonald M-L, Leal SM, Ahmad W (2008) Novel splice site mutations in TRIC gene underlies autosomal recessive non syndromic hearing impairment in three Pakistani families. Journal of Human Genetics 53:101-5
  • 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
  • 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 29:561-566
  • Oosterhuis BE, LaForge KS, Proudnikov D, Ho, Nielsen DA, Gianotti R, Barral S, Gordon D, Leal SM, Ott J, Kreek MJ (2008) Variants of the Catechol-O-Methyltransferase (COMT) gene and vulnerability to develop opiate addiction. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147B:793-8
  • Covarrubias D, BaiR-K, Wong L-J C, Leal SM (2008) Mitochondrial DNA variant interactions modify breast cancer risk. Journal of Human Genetics 53:924-8
  • Li B, Leal SM (2008) Novel Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data. American Journal of Human Genetics 83:311-21
  • Li B, Leal SM (2009) Deviation of Hardy-Weinberg equilibrium in parental and unaffected sibling genotype data. Human Heredity 67:104-14
  • 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) Genome-wide linkage scan for Keratoconus in Ecuadorian populations identifies a novel locus on 13q32.1-q32.3. Investigative Ophthalmology & Visual Science 50:1531-9
  • 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
  • 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
  • Li B, Leal SM (2009) Discovery of rare variant via sequencing: Implications for the design of complex trait association studies PLoS Genetics 5:e1000481
  • 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
  • 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
  • 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
  • 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
  • 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
  • Brunetti-Pierri N, Lachman R, Lee K, Leal SM, Piccol P, Van Den Veyver I, BacinoCA (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
  • 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
  • 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
  • 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
  • Ahmed SM, Yousaf R, Lee BC, Khan SN, LeeS, 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
  • 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
  • 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
  • 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
  • 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
  • He C, Weeks DE, Buyske S, Abecasis G, Stewart W, Matise TC, and The Enhanced Map Consortium. (2011) Enhanced genetic maps from family-based disease studies. BMC Med Genet 12:15
  • 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
  • AliG, LeeK, Andrade PB, BasitS, Santos-Cortez RLP, ChenL, JelaniM, 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
  • 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
  • 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.
  • Mendoza-Fandino GA, Gee JM, Ben-Dor S, Gonzalez-Quevedo C, Lee K, Kobayashi Y, Hartiala J, Myers 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 80:265-272
  • 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 Genet e1002223
  • 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) SMAD3 Mutations Cause Familial Thoracic Aortic Aneurysms and Dissections Associated with Intracranial Aneurysms and Other Arterial Aneurysms. Circulation Research 109:680-
  • 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
  • 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
  • LeMaire SA, McDonald M-L 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) FBN1 Genetic Variants are Associated with Thoracic Aortic Aneurysms and Aortic Dissections. Nature Genetics 43:996-1000
  • 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 DFNB72but not DFNB81 that also maps to chromosome 19p. Human Genetics 130:759-65
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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.
  • 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
  • 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
  • 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
  • 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
  • Boileau C, GuoD-C, Hanna N, Regalado ES, Detaint D, PrakashS, Varet M, Gong L, Li AH, d’Indy H, BravermanAC, 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
  • 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 and Chuong C-M. The chicken frizzle feather is due to an α-keratin (KRT75) mutation that causes a defective rachis. PLoS Genetics 8:e1002748.
  • 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. weighted Fisher's method to detect rare-variant associations with deep sequencing data for complex disorders. Genetic Epidemiology (in press)
    143. 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 (in press)
  • Liu DJ, Leal SM (2012) Estimating genetic effects and quantifying missing heritability explained by identified rare variant associations. American Journal of Human Genetics (in press)
  • 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 (in press)
  • McDonald ML, MacMullen C, Liu DJ, Leal SM, Davis RL (2012) Genetic association of cyclic AMP signaling genes with bipolar disorder. Translational Psychiatry (in press)
  • 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 (in press)
  • Liu DJ, Leal SM (2012) A unified method for detecting secondary trait associations with rare variants : Application to sequence data. PLoS Genetics (in press)
  • Wiszniewski W, HunterJ, Wang A, Cheung SW, Patel A, Stankiewicz P, Campbell I, Tian Q, Hixson P, Potocki L, Ramocki M, Leal SM, Shaw C, Hanchard N, York MK, Bader P, Omo-Griffith L, Madduri NS, Scharer G, Crawford H, Mutirangua A, Yanatatsaneejit P, Eifert A, KerrJ, Hurles M, Franklin AIA, Beaudet AL, Belmont JW, Lupski JR, Lalani SR (2012) TM4SF20 deletion confers increased susceptibility to cerebral white matter lesions in the Southeast Asian Population (submitted)
  • O'Connor TD, Kiezun A, Bamshad MJ, Rich SS, Exome Sequencing Project, Leal SM, Akey JM (2012) Rare variant association methods and their performance with population structure (submitted)
  • Lee K, Chiu I, Santos-Cortez RLP, Basit S, Khan S, Azeem Z, Andrade PB, Kim SS, Ahmad W, Leal SM (2012) Novel OTOA mutations cause autosomal recessive nonsyndromic hearing impairment in Pakistani families (submitted)
  • Auer PL, Wang G, NHLBI Exome Sequencing Project, Leal SM (2012) Testing for rare variant associations in the presence of missing data (submitted)
  • Fu W, O’Connor TD, Jun G, Kang HM, Goncalo A, 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 (2012) Analysis of 6,515 exomes reveals a very recent origin of most human protein-coding variants. (submitted)
  • Commentary, Editorials, Book Reviews and Review Articles
  • Leal SM (2001) Phenotype definition and statistical analysis of psychiatric and neuropsychiatric traits. American Journal of Medical Genetics 105:4-7
  • Leal SM (2001) Genetics and Analysis of Quantitative Loci (authors Lynch M, Walsh B). American Journal of Human Genetics 68:548-549
  • Belmont JW, Leal SM (2005) Complex phenotypes-complex genetics: An introduction to genetic studies of complex traits. Current Atherosclerosis Reports 7:180-187
  • Leal SM (2007) A tribute to Marcy Carlson Speer, 1959-2007. PLoS Genetics 28:e230
  • Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH (2010) Missing heritability and strategies for finding causes of complex disease. Nature Reviews Genetics 11:446-50
  • Bray PF, Leal SM (2010) The 9p21.3 locus: Platelets enter the fray. Circulation: Cardiovascular Genetics 3:393-5
  • De La Vega FM, Bustamante CD, Leal SM (2011) Genome-wide association mapping and rare alleles: From population genomics to personalized medicine. Pacific Symposium on biocomputing. 2011:74-5.

Book Chapters

  • Leal SM (1997) Tests for detecting linkage and linkage heterogeneity in "Genetic mapping of disease genes", (IH Pawlowitzki, JH Edwards, EA Thompson, eds), Academic Press, London pp 97-112
  • Leal SM, Vitale E, Apaydin F, Hu Y, Barnwell C, Iber M, Kandogan T, Braendle U, Zenner HP, Schwab M, Cura O (1998) A Turkish kindred with autosomal recessive non-syndromic hearing impairment segregates DFNB9 in “ Developments in Genetic Hearing Impairment”, (Stephens D, Read A, Martini A eds), Whurr Publishers London pp 90-91
  • Leal SM, Speer MC (2000) Genetic mapping of Mendelian and complex disorders in “The genetics of osteoporosis and metabolic bone disease”, (Econs MJ ed) Humana Press, New York pp 377-413.
  • Leal SM (2002) X-linkage in “Human Genetics and Genetic Epidemiology – Wiley Reference Series in Biostatistics”, (Elston R, Olson J, Palmer L, eds), John Wiley and Sons, Ltd, London pp 791-796
  • Paus T, Pausova Z, Abrahamowicz M, Almerigi J, Arbour N, Bernard M, Gaudet D, Hanzalek P, Hamet P, Evans AC, Kramer M, Laberge L, Leal S, Leonard G, Lerner J, Lerner RM, Mathieu J, Perron M, Pike B, Pitiot A, Richer L, Seguin JR, Syme C, Tremblay RE, Veillette S, Watkins K (2009) Maternal smoking, genes and adolescent brain and body The Saguenay Youth Study in “Development and Prevention of Behaviour Problems From Genes to Social Policy, (Richard E Tremblay, Marcel A.G. van Aken, Willem Koops, eds), Psychology Press, Taylor & Francis Group, Hove and New York pp 61-12
  • Nagalla S, Leal SM, Bray PF (2009) Pharmacogenomics of platelet inhibitors in “New Therapeutic Agents in Thrombosis and Thrombolysis, Third Edition, Vol. 65, (Freedman J, Loscalzo J, eds), Informa Healthcare USA, New York pp 49-66
  • Santos-Cortez RLP, Leal SM (2012) Nonsyndromic hearing impairment: the utility of families for the identification of hearing impairment genes, variants and phenotypes. (in press)

Editor

  • Phenotypes and Statistical Analysis of Psychiatric and Neuropsychiatric Traits. Special Issue (ed Leal SM) American Journal of Medical Genetics, Neuropsychiatric Genetics Volume 105, Issue 1 (2001)

E-mail this page to a friend