Publication List for Suzanne M. Leal, Ph.D.

Publication List

Research Articles Updated 7/7/06

2006

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 (in press)

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 (in press)

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 Dermotology (in press)

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 auditory and peripheral neuropathy, maps to Xq23-27.3.Journal of Medical Genetics 43(7):e33 Abstract Article

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(6):353-7 Abstract Article

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(6):484-90 Abstract Article

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(5):269-275 Abstract

Ali G, Santos RLP, John P, Lee K, Ahmad W, Leal SM (2006) The Mapping of DFNB62, a New Locus for Autosomal Recessive Non-syndromic Hearing Impairment, to Chromosome 12p13.2-p11.23 Clinical Genetics 69(5):429-33 Abstract Article

Naeem M, Wajid M, Lee K, Haque S, 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(3):274-9 Abstract Article

Santos RLP,El-Shanti H, Sikandar S, Bhatti A, Yan K, Chahrour M, Lee D, Mahasneh AA, McArthur N, Pham TL, Ahmad W, Leal SM (2006): Novel sequence variants in the TMIE gene in families with autosomal recessive non-syndromic hearing impairment. Journal of Molecular Medicine 84(3):226-31 Abstract Article

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 66(3):1880 Article

John P, Ali G, Chishti1 MS, Naqvi SMS, Leal SM, Ahmad W (2006): Localization of a Novel Locus for Alopecia with Mental Retardation Syndrome to Chromosome 3q26.33-q27.3. Human Genetics 118(5):665-7 Abstract Article

Hassan MJ, Santos RLP, Rafiq MA, Chahrour MH, Pham TL, Wajid M, Hijab N, Wambangco M, Lee K, Ansar M, Yan K, Ahmad W, Leal SM (2006): A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3. Human Genetics 118(5):605-10 Abstract Article

2005

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 Abstract Article

Leal SM (2005): Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium. Genetic Epidemiology 29(3):204-14 Abstract Article

Leal SM, Yan K, Müller-Myhsok B (2005): SimPed: A simulation program to generate haplotype and genotype data for pedigree structures. Human Heredity 60(2):119-22 Abstract Article

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(3):e41 Abstract Article

Santos RLP, Wajid M, Khan M, McArthur N, Pham T, Bhatti A, Lee K, Irshad S, Mir A, Yan K, Chahrour M, Ansar M, Ahmad W, Leal SM (2005): Novel sequence variants in the TMC1 genes in Pakistani families with autosomal recessive hearing impairment. Human Mutation 26(4):396 Abstract Article

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(3):262-7 Abstract Article

Sobngwi, Gautier J-F, Kevorkian J-F, Villette J-M, Reveline J-P, Zhang S, Vexiau P, Leal SM, Vaisse C, Mauvais-Jarvis F (2005): High prevalence of glucose-6-phosphate dehydrogenase deficiency without gene mutation suggests a novel genetic mechanism predisposing to ketosis-prone diabetes. Journal of Clinical Endocrinology and Metabolism 90(8):4446-51 Abstract Article

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(7):551-7 Abstract Article

McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW (2005): Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. American Journal of Medical Genetic 134(2):180-6 Abstract Article

Mir A, Ansar M, Chahrour MH, Pham TL, Wajid M, Haque S, Yan K, Ahmad W, Leal SM (2005): Mapping of a novel autosomal recessive non-syndromic deafness locus (DFNB46) to chromosome 18p11.32-p11.31. American Journal of Medical Genetic 133A(1):23-26. Abstract Article

Aslam M, Wajid M, Chahrour MH, Ansar M, Haque S, Pham TL, Santos RP, 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 Genetic 133A(1):18-22. Abstract Article

Santos RL, Wajid M, Pham TL, Hussan J, Ali G, Ahmad W, Leal SM (2005): Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment. Clinical Genetics 67(1):61-8. Abstract Article

Bulayeva KB, Leal SM, Pavlova TA, Kurbanov RM, Glatt SJ, Bulayev OA, Tsuang MT (2005): Mapping genes of complex psychiatric diseases in Daghestan genetic isolates. American Journal of Medical Genetic 132(1):76-84. Abstract Article

Kaunisto MA, Tikka PJ, Kallela M, Leal SM, Papp JC, 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 Genetic 132(1):85-9. Abstract Article

2004

Yuferov V, Fussell D, Laforge KS, Nielsen DA, 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. Pharmacogenetics 14(12):793-804. Abstract Article

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 (2004): PAX4 gene variations predispose to ketosis prone diabetes. Human Molecular Genetics 13(24):3151-9. Abstract Article

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(4):195-9. Abstract Article

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-q27.3 Journal of Medical Genetics2004 Nov;41(11):849-52 Article

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 Abstract Article

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 123:247-248 Article

Bart G, Heilig M, LaForge KS, Asberg M, Polk L, Leal SM, Ott J, Kreek MJ (2004): Substantial attributable risk related to a functional mu-opioid receptor gene polymorphism in association with heroin addiction in central Sweden. Molecular Psychiatry 9:547-549 Article

Li T-T, Larrucea S, Souza S, Leal SM, López JA, Rubin EM, Nieswandt B, Bray PF (2004): Genetic variation responsible for mouse strain differences in Integrin a2 expression is associated with altered responses to collagen. Blood 103:3396-3402 Abstract Article

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 Abstract Article

2003:

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 Abstract Article

Wajid M, Al Abbasi A, Ansar M, Pham TL, Yan K, Haque S, Ahmad W, Leal SM (2003): DFNB39, a recessive form of sensorineural hearing impairment, maps to chromosome 7q11.22-q21.12. European Journal of Human Genetics 11:812-815 Abstract Article

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 Abstract

Ansar M, Ramzan M, Pham TL, Yan K, Jamal SM, Haque S, Ahmad W, Leal SM (2003): Localization of a novel autosomal recessive non-syndromic hearing impairment locus (DFNB38) to 6q26-6q27 in consanguineous kindred from Pakistan. Human Heredity 55:71-74 Abstract Article

Leal SM (2003): Genetic maps of microsatellite and SNP markers: Are the distances accurate? Genetic Epidemiology 24:243-252 Abstract Article

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 Abstract Article

Bulayeva KB, Pavlova TA, Kurbanov, Leal S, Bulayev OA (2003): Genetic and Epidemiological Studies in Daghestan Highland Isolates. Genetika 39:413-422 Abstract

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 Abstract Article

Ansar M, Amin ud Din M, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM (2003): Autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. European Journal of Human Genetics 11:77-80 Abstract Article

DeWan AT, Parrado AR, Leal SM (2003): A Second Kindred linked to DFNA20 (17q25.3) Reduces the Genetic Interval. Clinical Genetics 63:39-45 Abstract Article

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 Abstract Article

2002

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 Abstract Article

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. J Invest Dermatol 119:70-76 Abstract Article

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 Abstract Article

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 Abstract Article

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 10:2501-2508 Abstract Article

2001

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 Medical Genetics 105:489-497 Abstract Article

Wille A, Leal SM (2001): Novel selection criteria for genome scans of complex traits. Genetic Epidemiology 21(Suppl 1): S800-S804 Abstract

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 (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 Abstract Article

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 Abstract Article

2000

Kimonis VE, Kovach MJ, Waggoner B, Leal S, Salam A, Davis K, Khardori R, Gelber D (2000): Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone. Genetics in Medicine 2:232-241 Abstract

Bulayeva KB, Leal SM, Pavlova TA, Kurbanov, Coover S, Bulayev O, Byerley W (2000): The ascertainment of multiplex schizophrenia pedigrees from Daghestan genetic isolates (Northern Caucasus, Russia). Psychiatr Genet. 10:67-72 Abstract

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 Abstract Article

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 Abstract Article

Haefner FM, Linder T, Salam AA, Balmer D, Baumer A, Schinzel A, Spillmann T, Leal SM (2000): A novel locus (DFNA24) for prelingual non-progressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. American Journal of Human Genetics 66:1437-1442 Abstract Article

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 Abstract Article

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. Abstract

1999

Leal SM, Heath SC (1999): Searching for alcoholism susceptibility genes using MCMC methods. Genetic Epidemiolology 17:Suppl 1, 217-222. Abstract

Alkhateeb A, Al-Alami J, Leal SM, El-Shanti H (1999): Fine mapping and further evidence of locus homogeniety for Progressive Pseudorheumatoid Dysplasia. Genetic Testing 3:329-333. Abstract

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. Abstract Article

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. Abstract

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): Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis. Diabetes 48:1890-1895. Abstract Article

1998

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 46:809-14 Article (in German) Abstract

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. Abstract

Leal SM, Heath SC (1998): Markov Chain Monte Carlo methods detect alcoholism
susceptibility loci on chromosomes 11 and 4. Genetic Analysis Workshop 11

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): Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity: possible implications for opiate addiction. PNAS 95: 9608-9613. Abstract Article

1997

Leal SM and Ott J (1997): Analysis of two-locus traits under heterogeneity for recessive versus dominant inheritance. Genetic Epidemiology 14:1097-1100. Abstract Article

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 14:891-89. Abstract Article

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. Abstract

Peters U, Senger G, Rählmann M, Du Chesne I, Stec I, Köhler MR, Weissenbach J, Leal SM, Koch HG, Deufel T, Harms E (1997): Nephropathic cystinosis (CTNS-LSB): construction of a YAC contig comprising the refined critical region on chromosome 17p13. European Journal of Human Genetics 5:9-14. Abstract

1996

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 6:351-360. Abstract

1995

Leal SM, Ott J (1995): Variability of genotype specific penetrance probabilities in the calculation of risk support intervals. Genetic Epidemiology 12:859-862. Abstract

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.

1994

Leal SM, Ott J (1994): A likelihood approach to calculating a risk support interval. American Journal of Human Genetics 54:913-917. Abstract

1993

Leal SM, Ott J (1993): A bootstrap approach to estimating power under linkage heterogeneity. Genetic Epidemiology 10:465-470. Abstract

1992

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. Abstract

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. Abstract

1990

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. Abstract

Book Chapters

2002

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

2000

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 pp377-413.

1998

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

1997

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.

Commentary, Editorials, Book Reviews And Review Articles

2005

Belmont JW, Leal SM (2005): Complex phenotypes-complex genetics: An introduction to genetic studies of complex traits. Current Atherosclerosis Reports 7:180-187 Abstract Article

2001

Leal SM (2001): Phenotype definition and statistical analysis of psychiatric and neuropsychiatric traits. Neuropsychiatric Genetics 105:4-7 Abstract Article

Leal SM (2001) Genetics and Analysis of Quantitative Loci (authors Lynch M, Walsh B). American Journal of Human Genetics 68:548-549

Abstracts

2005

Belmont J, Strivens M, Leal SM, Milosavljevic M, Gibbs R, Kaplan N. (2005) Chromosome-Scale Linkage Disequilibrium Properties Characterized by the Genotype Correlation. American Journal of Human Genetics A226

Leal SM, Yan K, Müller-Myhsok B. (2005) SimPed: A Simulation Program to Generate Haplotype and Genotype Data for Pedigree Structures. American Journal of Human Genetics A2326

Frajdenberg A, Rydzanicz M, Podfigurna-Musielak M, Leal SM, Bejjani BA, Pecold K, Gajecka M. (2005) Identifying familial high myopia candidate genes in a Polish population. American Journal of Human Genetics A2237

Lewis RA, Gajecka M, Winters D, Molinari A, Pitarque JA, Chahrour MH, Leal SM, Bejjani BA. (2005)Linkage studies in an Ecuadorian population with Keratoconus. American Journal of Human Genetics A2236

Mendoza GA, Pemberton TJ, Karaman M, Gonzalez C,Ninis V, Scarel-Caminaga R, Haartiala J, Lee K, Leal SM, Snead ML, Hacia J, Allayee H, Line SRP, Patel PI. (2005) A new locus for autosomal dominant amelogenesis imperfecta. American Journal of Human Genetics A2144

McBride KL, Fernbach SD, Zender GA, Leal SM, Stockton DW, Towbin JA, BelmontJ. (2005) A genome-wide linkage scan for left ventricular outflow tract malformation susceptibility loci. American Journal of Human Genetics A1484

Yu F, Sabeti P, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis T, Nelson D, Belmont J, Gibbs R. (2005) Positive Selection of a Pre-expansion CAG Repeat of the Human SCA2 Gene. American Journal of Human Genetics A1054

Müller-Myhsok B, Yan K, Leal SM (2005) SimPed: A Simulation Program to Generate Haplotype and Genotype Data for Pedigree Structures. European Society of Human Genetics, Prague, Czech Republic, May 7-10, 2005

Leal SM (2005) The Detection of Genotyping Errors and Pseudo-SNPs via Deviations from Hardy Weinberg Equilibrium. European Society of Human Genetics, Prague, Czech Republic, May 7-10, 2005

Müller-Myhsok B, Yan K, Leal SM(2005) SimPed: A Simulation Program to Generate Haplotype and Genotype Data for Pedigree Structures. 33^rd European Mathematical Meeting, Le Kremlin-Bicetre, France, April 1-2, 2005

Leal SM (2005) The Detection of Genotyping Errors and Pseudo-SNPs via Deviations from Hardy Weinberg Equilibrium. 33^rd European Mathematical Meeting, Le Kremlin-Bicetre, France, April 1-2, 2005

Belmont J, Strivens M, Leal SM, Milosavljevic, M, Gibbs, R, Kaplan, N (2005) Chromosome-Scale Linkage Disequilibrium Properties Characterized by the Genotype Correlation. American Journal of Human Genetics A226

2004

Patel PI, Tarpey P, Mendoza G, Gonzales C, Das P, Ninis V, Stockton DW, Scarel-Caminaga R, Nino-Rosales L, Figuerido E, Leal SM, Stratton MR, Line S. (2004) Identification of genes underlying hypodontia. American Journal of Human Genetics A2537

Lewis RA, Gajecka M, Winters D, Molinari A, Pitarque JA, Chahrour MH, Leal SM, Bejjanni BA. (2004) A major gene for keratoconus in Ecuador does not map to any of the known keratoconus loci. American Journal of Human Genetics A1915

El-Shanti H, Ferguson P, Majeed H, Alami J, Chen S, Tayeh M, Ochoa L, Leal SM, Pelet A, Lyonnet S, Munnich A. (2004) Homozygous Mutations in LPIN2 are Responsible for the Syndrome of Chronic Recurrent Multifocal Osteomyelitis and Congenital Dyserythropoietic Anemia (Majeed Syndrome). American Journal of Human Genetics A58

Belmont J, Yu F, Hardenbol P, Lu X, Moorhead M, Scott G, Ghose S, Pasternak S, Willis T, Faham M, Leal SM, Taylor J, Morris R, Kaplan N, Gibbs RA (2004) High Density SNP Map Reveals Interrupted and Interlaced Organization of Linkage Disequilibrium Among Markers American Journal of Human Genetics A3

Gianotti RJ, LaForge KS, Chen AC, Ooterhuis BE, Ho A, Leal SM, Kreek MJ (2004) An Association Study of a prodynorphin gene promoter polymorphism and opiate dependence. College on Problems of Drug Dependence, San Juan, Puerto Rico June 12-17, 2004

Nothnagel M, Rohde K, Yu F, Willis T, Pasternak S, Hardenbol P, Belmont J, Leal SM, Gibbs RA (2004) Definition of haplotype blocks based on multilocus LD assessment. HUGOs 9th International Human Genome Meeting (HGM2004), Berlin, Germany April 4-7, 2004

Nothnagel M, Rohde K, Yu F, Willis T, Pasternak S, Hardenbol P, Belmont J, Leal SM, Gibbs RA (2004) Estimates of the required number of SNPs in whole-genome association studies from a chromosomal data set European Mathematical Genetics Meeting, Kiel, Germany, March 29-31, 2004

2003

Yu F, Scott G, Lu X, Nelson D, Belmont J, Steffen D, Leal S, Hardenbol P, Thomas M, Jain M, Faham M, Willis T, Gibbs R. (2003): Large Scale SNP Genotyping at the BCM-HGSC with Molecular Inversion Probe (MIP) Technology. American Journal of Human Genetics A1873

Willis T, Hardenbol P, Iartchouk O, Bruckner C, Moorhead M, Namsaraev E, Karlin-Neumann G, Jain M, Yu F, Lu X, Pasternak S, Ghose S, Perez A, Steffen D, Leal S, Scott G, Belmont J, Gibbs R (2003): Large Scale SNP Genotyping with Molecular Inversion Probe (MIP) Technology. American Journal of Human Genetics A1837

Das P, Rohr A, Scarel-Caminaga RM, Agilar E, Leal SM, Figuerido EL, Line SRP, Patel PI. (2003): A novel locus for autosomal dominant hypondotia involving incisors and premolars. American Journal of Human Genetics A2323

Beijani BA, Gajecka M, Molinari A, Pitarque J, Leal SM, Lewis RA. (2003): Mapping genes for Autosomal Dominant Keratoconus. American Journal of Human Genetics A2322

Friderici, KH, Zhu M, Yang T, Wei S, DeWan AT, Belyantseva I, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJH (2003): Mutations in the gamma actin gene (ACTG1) cause dominant progressive deafness. American Journal of Human Genetics A43

2002

Das P, Hai M, Elcock, Leal SM, Brown DT, Brook AH, Patel PI (2002) A 288 BP exonic insertion and novel missense mutations in PAX9 in families with autosomal dominant hypodontia. American Journal of Human Genetics A2104

2001

Chen ACH, LaForge KS, McHugh PF, Kellog S, Bell K, Schluger RP, Leal SM, Kreek MJ (2001): Allelic variation in the promoter region of prodynorphin gene in subjects with cocaine abuse or dependence. College on the Problems of Drug Dependence, Scottsdale, AZ, June 16-21 2001

LaForge KS, Leal SM, Khuri E, Wells A, Kreek MJ (2001): A dinucleotide (Can) repeat polymophism in the human preproekephalin gene and opioid dependence. College on the Problems of Drug Dependence, Scottsdale, AZ, June 16-21 2001

Kimonis V, Kovach M, Waggoner B, Leal SM, Simmons Z, Khardori R, Whyte MP, Pestronk A (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. American Society of Human Genetics, October 12-16, 2001 San Diego A250

Chen ACH, Laforge KS, Ho A, McHugh PF, Kellog S, Bell K, Schluger RP, Leal SM, Kreek MJ (2001): A potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse. American Society of Human Genetics, October 12-16, 2001 San Diego A2257

DeWan AT, Parrado AR, Matise TC, Leal SM (2001): The map problem: a comparison of genetic and sequence-based physical maps. American Society of Human Genetics, October 12-16, 2001 San Diego A1603

Wessman M, Kallela M, Oswell G, Kaunisto M,Hartiala J, Broas P, Hämäläine E, Marttila P, Hiekkalinna T, Joslyn G, Papp J, Leal SM, Cantor R, Sobel R, Ott J, Havanka H, Färkkilä M, Peltonen L, Palotie A. (2001): A Genome-wide Scan Identifies a Genetic Locus for Migraine with Aura. American Society of Human Genetics, October 12-16, 2001 San Diego A190

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 (2001): Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss. American Society of Human Genetics, October 12-16, 2001 San Diego A274

Rogers RJ, Kelley PM, Keats BJB, Starr A, Kirschhofer, K, Leal SM, Cohn ES, Kimberling WJ (2001): Candidate screening for nonsyndromic recessive auditory neuropathy. (2001) A2403

2000

Kimonis VE, Kovach MJ, Salam A, Leal SM, Waggoner B, Davis K, Khardori R, Gelber D (2000): Clinical and Molecular Studies in a large unique family with Limb-Girdle Muscular Dystrophy and Paget Disease of Bone. 2000 Annual Clinical Genetics Meeting.

Laforge KS, Kapadia SU, Yuerov V, Bell K, Leal SM, McHugh PF, Kellog SH, Schluger R, Yu L, Kreek MJ (2000): Alleles of the mu opiod receptor gene and opiate addiction. 2000 Annual Meeting of the College of Problems of Drug Dependency, San Juan, Puerto Rico

Kapadia SU, LaForge KS, Yuferov V, Bell K, Leal SM, McHugh P, Kellogg S, Schluger RP, Yu L, Kreek MJ (2000): Single nucleotide polymorphism of the mu opioid receptor gene and non opioid-dependent drug abuse. 2000 Annual meeting of the College of Problems of Drug Dependency, San Juan, Puerto Rico

LaForge KS, Leal SM, Kreek MJ (2000) Human Nociceptin/Orphanin FQ receptor gene structure and polymorphism in heroin addiction. International Narcotics Research Conference Seattle, WA, July 15-20,2000

Yuferov V, LaForge KS, Leal SM, Kreek MJ (2000) Single nucleotide polymorphism of the human kappa opioid receptor. International Narcotics Research Conference Seattle, WA, July 15-20, 2000

Baala L, Hadj-Rabia S, Teillac-Hamel D, Leal SM, Sefiani A, de Prost Y, Munnich A, Lyonnet S, Vabres P (2000) Homozygosity mapping of a locus for a novel form of syndromic ichthyosis to chromsome 3q27-q28. American Journal of Human Genetics A674

Kimonis VE, Kovach MJ, Leal S, Waggoner B, Khardori R, Gelber D (2000) Clinical and molecular studies in a large unique family with limb-girdle muscular dystrophy and Paget disease of the bone. American Journal of Human Genetics A669

Kovach MJ, Kimonis VE, Leal S, Waggoner B,Salam A, Khardori R, Gelber D (2000) The gene for autosomal dominant limb-girdle muscular dystrophy and Paget disease of the bone in a large family maps to 9p22.3-q12. American Journal of Human Genetic A1794

1999

Ott J, Gordon D, Leal SM, Heath SC (1999) Analytic derivation of error detection rates for SNPs in nuclear families. 2nd International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, Munich, Germany.

Haefner FM, Linder T, Salam AA, Balmer D, Baumer A, Schinzel A, Spillmann T, Leal SM (1999): A novel locus DFNA24 for congenital autosomal dominant hearing loss maps to 4q in a large Swiss German kindred. Otology 2000: XXII. Annual Meeting of the Politzer Society, University of Zurich Switzerland B19-8.

Ott J, Gordon D, Leal SM, Heath SC (1999) Detecting errors in single nucleotide poly morphisms using family data. Bridging the Gap Between Sequence and Function Workshop, Cold Spring Harbor, September 7-9, 1999 A34.

Leal SM and Ott J (1999): Effects of stratification in the Analysis of Affected Sib-Pair Data. International Genetic Epidemiology Society meeting, St. Louis Missouri A9

Salam AA, Haefner FM, Linder T, Baumer A, Balmer D, Spillmann T, Schinzel A, Leal SM (1999): Identification of a novel locus DFNA23 for prelingual autosomal dominant hearing loss maps to 14q in a Swiss German kindred. American Journal of Human Genetics A2515

Leal SM and Ott J (1999): Effects of stratification in the Analysis of Affected Sib-Pair Data. American Journal of Human Genetics A446

Alkhateeb AM, Al-Alami J, Leal SM, El-Shanti HE (1999): DNA based testing for the identification of progressive pseudorheumatioid dysplasia carriers. American Journal of Human Genetics A1160

Tayeh MK, Al-Alami J, Al-Sheyyab MY, Leal SM, El-Shanti HE (1999): Linkage analysis of a family with autosomal recessive B12 deficiency. American Journal of Human Genetics A2441

1998

Simonic I, Leal SM, Gordon D, Ott J: (1998): Background linkage disequilibrium in the Afrikaner population of South Africa. American Society of Human Genetics A1267

Pfister M, Leal SM, Devoto M, Apaydin F, Bylgen V, De Rienzo A, Riccio A, Wellington S, Zenner HP, Schawlb M, Vitale E (1998): Gentic mapping in a large turkish kindred segregating DFNB3 suggests different mutations causing non-syndromic hearing loss. American Journal of Human Genetics A2201

Yu L, Bond C, Tischfield JA, LaForge KS, Leal SM, Kreek MJ (1998): Studies of receptor function in a single nucleotide polymorphism of the human mu opioid receptor gene. International Narcotic Research Conference, Partenkirchen, Germany, July 20-25.

Kreek MJ, LaForge KS, Leal SM, Bond C, Tischfield JA, Yu L (1998): Single nucleotide polymorphism in the human mu opioid receptor gene in methodone-maintained and control subjects. International Narcotic Research Conference Partenkirchen, Germany, July 20-25.

1997

Leal SM, Winik J, Signorini S, Blundell M, Auerbach S, Stoffel M, Friedman J (1997): The Genetics of Obesity in an isolated Micronesian Population. 29th Annual Metting of the European Society of Human Genetic, Genoa, Italy.

1996

Leal SM (1996): Genetic mapping of non-syndromic hearing loss genes. W-7-2, 8. Jahrestagung der Gesellschaft fur Humangenetik, Goettingen, Germany.

Vitale E, Apaydin F, Sammarai W, Barnwell C, Iber M, Kandogan T, Braendle U, Zenner H.P., Schwalb M, Leal, SM (1996): Non-syndromic hearing loss: linkage study of Turkish families. 28th Annual Meeting of the European Society of Human Genetics, London, England.

Leal SM, Vitale E, Apaydin F, Hu Y, Barnwell C, Iber M, Kandogan T, Braendle U, Zenner HP, Schwalb M, Cura O (1996): A Turkish kindred with autosomal recessive non-syndromic hearing loss (NSHL) segregates DFNB9. : A Turkish kindred with autosomal recessive non-syndromic hearing loss (NSHL) segregates DFNB9. Second Workshop of the European workgroup on genetics of hearing impairment. Milan, October 11-13, 1996.

1995

Apaydin F, SM Leal, Iber M, Kandogan T, Braende U, Cura O, Zenner HP (1995): Nonsyndromic deafness: a preliminary study. HNO-Congress, Karlruhe, Germany.

Leal SM, Ott J (1995): Variability of genotype specific penetrance probabilities in the calculation of risk support intervals. A157, 27th Annual Meeting of the European Society of Human Genetics, Berlin, Germany.

Leal SM, Ott J (1995): Analysis of two-locus traits under heterogeneity for dominant versus recessive inheritance. Am J Hum Genet 57, A1127.

Leal SM, Apaydin F, Vitale E, Iber M, Kandogan T, Braende U, Cura O, Zenner HP (1995): Nonsyndromic deafness: ascertainment of Turkish families for a linkage study. Molecular biology of hearing and deafness, Betheseda, Maryland.

1994

Leal SM, Klempan TA, Lambert S, Pembrey M, Fishman G, Ott J, Musarella M (1994): Linkage analysis of lebers congenital amaurosis. A526, 26th Annual Meeting of the European Society of Human Genetics, Paris France.

1993

Leal SM, Pericak-Vance M, Ott J (1993): Estimating power under linkage heterogeneity using a bootstrap approach. W-8-3, 5. Jahrestagung der Gesellschaft für Humangenetik e. v., Würzburg, Germany.

Musarella MA, Reiss O, Hayden Michael, Lambert S, Pembrey M, Fishman G, Leal S, Ott J (1993): Linkage and mutational analysis of 30 families affected with Leber congenital amaurosis. Association for Research in Vision and Ophthalmology.

Straub R, Leal SM, Shao W, Luo Y, Rojas K, Overhauser J, Ott J, Gilliam T (1993): A microsatellite index map of human chromosome 18. Second International Workshop of Chromosome 18, Nijmegen Netherlands.

Squires-Wheeler E, Brzustowicz L, Friedman D, Erylenmeyer-Kimmling L, Leal S, Ott J (1993): Effects of misclassification in linkage analyses: an approach to conservative management. Schizophrenia Research.

1992

Leal SM, Ott J. (1992): RISK: A computer program to calculate a risk support interval. A360, 4. Jahrestagung der Gesellschaft für Humangenetik e. v., Mainz, Germany.

Leal SM, Ott J. (1992): The RISK computer program to calculate risk support intervals. Am J Hum Genet 51, A390.

1991

Leal SM, Penchaszadeh G, Ramos M, Snodgrass SR, Gomez F, Haines JL, Tanzi RE, Gusella JF, Conneally PM, Ott J, Wexler NS (1991): Comparing informativeness of two well-known data sets for gene mapping. Genome Mapping & Sequencing, Cold Springs Harbor.

1990

Leal SM, Ott J (1990): Expected lod scores in linkage analysis of autosomal recessive traits for affected and unaffected offspring. Am J Hum Genet 47, A188.