Suzanne Leal

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. pmc SimPed: a simulation program to generate haplotype and genotype data for pedigree structures
    Suzanne M Leal
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, N1619 01, Houston, TX 77025, USA
    Hum Hered 60:119-22. 2005
  2. ncbi request reprint Genetic maps of microsatellite and single-nucleotide polymorphism markers: are the distances accurate?
    Suzanne M Leal
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Epidemiol 24:243-52. 2003
  3. ncbi request reprint Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium
    Suzanne M Leal
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Epidemiol 29:204-14. 2005
  4. pmc Discovery of rare variants via sequencing: implications for the design of complex trait association studies
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 5:e1000481. 2009
  5. pmc Ignoring intermarker linkage disequilibrium induces false-positive evidence of linkage for consanguineous pedigrees when genotype data is missing for any pedigree member
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Hered 65:199-208. 2008
  6. pmc DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2
    Regie Lyn P Santos
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek Building N1619 01, Houston, TX 77030, USA
    Hum Genet 120:85-92. 2006
  7. ncbi request reprint Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits
    John W Belmont
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Curr Atheroscler Rep 7:180-7. 2005
  8. pmc Deviations from hardy-weinberg equilibrium in parental and unaffected sibling genotype data
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex, USA
    Hum Hered 67:104-15. 2009
  9. pmc Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 83:311-21. 2008
  10. pmc Positive selection of a pre-expansion CAG repeat of the human SCA2 gene
    Fuli Yu
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
    PLoS Genet 1:e41. 2005

Research Grants

  1. Advanced Gene Mapping Course
    Suzanne Leal; Fiscal Year: 2007
  2. Identification of Nonsyndromic Hearing Impairment Genes
    Suzanne Leal; Fiscal Year: 2009

Collaborators

Detail Information

Publications19

  1. pmc SimPed: a simulation program to generate haplotype and genotype data for pedigree structures
    Suzanne M Leal
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, N1619 01, Houston, TX 77025, USA
    Hum Hered 60:119-22. 2005
    ....
  2. ncbi request reprint Genetic maps of microsatellite and single-nucleotide polymorphism markers: are the distances accurate?
    Suzanne M Leal
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Epidemiol 24:243-52. 2003
    ....
  3. ncbi request reprint Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibrium
    Suzanne M Leal
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Epidemiol 29:204-14. 2005
    ..05. On the other hand, the detection of deviations from HWE for pseudo-SNPs (paralogous and ectopic sequence variants) for the majority of models examined produces a power of >0.8 for sample sizes as small as 50 individuals...
  4. pmc Discovery of rare variants via sequencing: implications for the design of complex trait association studies
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
    PLoS Genet 5:e1000481. 2009
    ..Although sequencing cases can enrich for casual variants, when a gene or genes are not involved in disease etiology, limiting variant discovery to cases can lead to association studies with dramatically inflated false positive rates...
  5. pmc Ignoring intermarker linkage disequilibrium induces false-positive evidence of linkage for consanguineous pedigrees when genotype data is missing for any pedigree member
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Hered 65:199-208. 2008
    ....
  6. pmc DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2
    Regie Lyn P Santos
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek Building N1619 01, Houston, TX 77030, USA
    Hum Genet 120:85-92. 2006
    ..9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants...
  7. ncbi request reprint Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits
    John W Belmont
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Curr Atheroscler Rep 7:180-7. 2005
    ..New efficient technologies for genotyping and public databases describing the fine structure of genetic correlations in the genome should aid many aspects of the gene discovery process...
  8. pmc Deviations from hardy-weinberg equilibrium in parental and unaffected sibling genotype data
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex, USA
    Hum Hered 67:104-15. 2009
    ..Genotyping error can increase both type I and II errors. In order to elucidate potential genotyping errors, data quality control often includes testing genotype data for deviations from Hardy-Weinberg Equilibrium (HWE)...
  9. pmc Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data
    Bingshan Li
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 83:311-21. 2008
    ..The CMC method can be applied to either candidate-gene or whole-genome sequence data...
  10. pmc Positive selection of a pre-expansion CAG repeat of the human SCA2 gene
    Fuli Yu
    Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA
    PLoS Genet 1:e41. 2005
    ..These results suggest that a recent positive selection of the pre-expansion SCA2 CAG repeat has occurred in Utah residents with European ancestry...
  11. pmc Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment
    Regie Lyn P Santos
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Alkek N1619 01, Houston, TX 77030, USA
    J Mol Med (Berl) 84:226-31. 2006
    ..3-4.8]. Further studies on the spectrum, prevalence rates, and functional effect of sequence variants in the TMIE gene in other populations should demonstrate the true importance of this gene as a cause of hearing impairment...
  12. pmc Mitochondrial DNA variant interactions modify breast cancer risk
    Daniel Covarrubias
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
    J Hum Genet 53:924-8. 2008
    ....
  13. pmc Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment
    Regie Lyn P Santos
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex 77030, USA
    Audiol Neurootol 11:269-75. 2006
    ..Annual threshold deterioration was approximately 0.5 dB/year at 1-2 kHz after correction for presbycusis...
  14. ncbi request reprint Mitochondrial genetic background modifies breast cancer risk
    Ren Kui Bai
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Cancer Res 67:4687-94. 2007
    ..37; 95% CI, 0.19-0.73; P = 0.0023, adjusted P = 0.03). Our results suggest that mitochondrial genetic background plays a role in modifying an individual's risk to breast cancer...
  15. pmc Sequence variants in host cell factor C1 are associated with Ménière's disease
    Jeffrey T Vrabec
    Bobby R Alford Department of Otolaryngology Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, U S A
    Otol Neurotol 29:561-6. 2008
    ..There is a genetic basis for the development of Ménière's (MD) disease...
  16. ncbi request reprint Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontia
    Parimal Das
    Department of Neurology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Am J Med Genet A 118:35-42. 2003
    ..These studies extend the spectrum of mutations in PAX9 associated with hypodontia to include heretofore undescribed categories, including missense mutations...
  17. pmc Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability
    Kim L McBride
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Am J Med Genet A 134:180-6. 2005
    ..This data can also provide families with important information for screening asymptomatic relatives for potentially harmful cardiac defects...
  18. ncbi request reprint PAX4 gene variations predispose to ketosis-prone diabetes
    Franck Mauvais-Jarvis
    Division of Diabetes, Endocrinology and Metabolism, Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mol Genet 13:3151-9. 2004
    ....
  19. pmc 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
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 152:1825-31. 2010
    ....

Research Grants8

  1. Advanced Gene Mapping Course
    Suzanne Leal; Fiscal Year: 2007
    ....
  2. Identification of Nonsyndromic Hearing Impairment Genes
    Suzanne Leal; Fiscal Year: 2009
    ..abstract_text> ..