Publication List
Research Articles updated 6/7/02
2002
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
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 genetic epidemiology of schizophrenia in highland isolates of Daghestan (Northern Caucasus, Russia). Neuropsychiatric Genetics 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): Uncoupling protein 3 (UCP3): Mutation
and linkage analysis for possible role in adiposity of African Americans.
Diabetes 48:1890-1895. Abstract
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): 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. 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
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
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): 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. 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
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
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
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
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. American Journal of Human Genetics A1405
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.