Area of research
Genetics · Molecular Biology
Research interest
Research interests include Genomics and Rare Diseases, Genomics and Phylogenetic Studies, Genetic Associations and Epidemiology, and Genomic variations and chromosomal abnormalities.
Double Mosaicism in Xia-Gibbs Syndrome.
The impact of genetic testing on physician practice in specialized cardiovascular clinics
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
The Somatic Mosaicism across Human Tissues Network
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Population-scale Long-read Sequencing in the All of Us Research Program
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes
Constellation illuminates rare disease genetics
Genomic data in the All of Us Research Program
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci
Using multiplexed functional data to reduce variant classification inequities in underrepresented populations
Endocrine-Sensitive Disease Rate in Postmenopausal Patients With Estrogen Receptor–Rich/ERBB2-Negative Breast Cancer Receiving Neoadjuvant Anastrozole, Fulvestrant, or Their Combination
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma
Tracking updates in clinical databases increases efficiency for variant reanalysis
Defining and Reducing Variant Classification Disparities
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality
The genomic landscape of familial glioma.
Association of Rare Protein-Truncating DNA Variants in <i>APOB</i> or <i>PCSK9</i> With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study
Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine Program
Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants
Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly.
Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Population Scale Clinical Sequencing
All of Us at the Baylor-Hopkins Clinical Genome Center
All of Us at the Baylor-Hopkins Clinical Genome Center
Comprehensive Somatic Variant Characterization at the HGSC
Comprehensive Somatic Variant Characterization at the HGSC
Comprehensive Somatic Variant Characterization at the HGSC
Comprehensive Somatic Variant Characterization at the HGSC
Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Baylor College of Medicine - Mendelian Genomics Research Center (BCM-MGRC)
Integrated Genomics of Mucosal Infections
Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohort
EXERCISE OPTION PERIOD 1, TASK AREA 5 METABOLOMICS, FOR CORE YEAR 5.
EXERCISE OPTION PERIOD 1, TASK AREA 5 METABOLOMICS, FOR CORE YEAR 5.
Shared Sequel II Systems at BCM HGSC
GENOMIC APPROACHES TO UNDERSTAND DISEASE SUSCEPTIBILITY AND PATHOGENESIS OF SARS-COV-2
Integrated Genomics of Mucosal Infections
Integrated Genomics of Mucosal Infections
Integrated Genomics of Mucosal Infections
Integrated Genomics of Mucosal Infections
Integrated Genomics of Mucosal Infections
Integrated Genomics of Mucosal Infections