Area of research
Genetics · Rheumatology
Research interest
Research interests include Cleft Lip and Palate Research, Genetic Associations and Epidemiology, Craniofacial Disorders and Treatments, and Genomics and Rare Diseases.
A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals
Assessing patient perceptions and understandings of genetic testing after pregnancy loss
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension
Rare Variants in Genes Encoding Subunits of the Epithelial Na <sup>+</sup> Channel Are Associated With Blood Pressure and Kidney Function
<i>CREBRF</i> missense variant rs373863828 has both direct and indirect effects on type 2 diabetes and fasting glucose in Polynesian peoples living in Samoa and Aotearoa New Zealand
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals
Genome-wide mapping of global-to-local genetic effects on human facial shape
Genome‐wide interaction studies identify sex‐specific risk alleles for nonsyndromic orofacial clefts
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3
Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci