Research Topics
| Suzanne LealSummaryAffiliation: Baylor College of Medicine Country: USA Publications
Research Grants
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Detail Information
Publications
SimPed: a simulation program to generate haplotype and genotype data for pedigree structuresSuzanne 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....- 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.... - Detection of genotyping errors and pseudo-SNPs via deviations from Hardy-Weinberg equilibriumSuzanne 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... - Discovery of rare variants via sequencing: implications for the design of complex trait association studiesBingshan 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... - Ignoring intermarker linkage disequilibrium induces false-positive evidence of linkage for consanguineous pedigrees when genotype data is missing for any pedigree memberBingshan Li
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Hered 65:199-208. 2008.... - DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2Regie 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... - Complex phenotypes and complex genetics: an introduction to genetic studies of complex traitsJohn 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... - Deviations from hardy-weinberg equilibrium in parental and unaffected sibling genotype dataBingshan 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)... - Methods for detecting associations with rare variants for common diseases: application to analysis of sequence dataBingshan 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... - Positive selection of a pre-expansion CAG repeat of the human SCA2 geneFuli 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... - Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairmentRegie 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... - Mitochondrial DNA variant interactions modify breast cancer riskDaniel Covarrubias
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA
J Hum Genet 53:924-8. 2008.... - Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairmentRegie 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... - Mitochondrial genetic background modifies breast cancer riskRen 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... - Sequence variants in host cell factor C1 are associated with Ménière's diseaseJeffrey 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... - Novel missense mutations and a 288-bp exonic insertion in PAX9 in families with autosomal dominant hypodontiaParimal 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... - Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritabilityKim 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... - PAX4 gene variations predispose to ketosis-prone diabetesFranck 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.... - Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage regionNicola 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 Grants
- Advanced Gene Mapping CourseSuzanne Leal; Fiscal Year: 2007....
- Identification of Nonsyndromic Hearing Impairment GenesSuzanne Leal; Fiscal Year: 2009..abstract_text> ..