Area of research
Genetics · Rheumatology
Research interest
Research interests include Biology, Genetics, Genome-wide association study, Craniofacial, Single-nucleotide polymorphism, and Medicine.
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions
DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
<i>PBX‐WNT‐P63‐IRF6</i>pathway in nonsyndromic cleft lip and palate
Genome‐wide interaction studies identify sex‐specific risk alleles for nonsyndromic orofacial clefts
Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes
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
Role of <i><scp>WNT</scp>10A</i> in failure of tooth development in humans and zebrafish
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
Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3
Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism
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
The 3D Facial Norms Database: Part 1. A Web-Based Craniofacial Anthropometric and Image Repository for the Clinical and Research Community
Regulatory variant in<i><scp>FZD</scp>6</i>gene contributes to nonsyndromic cleft lip and palate in an African‐American family
Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
Further evidence suggesting a role for variation in <i>ARHGAP29</i> variants in nonsyndromic cleft lip/palate
Genome-wide association study identifies new disease loci for isolated clubfoot
Studies of <i>TBX4</i> and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot
Association of <i>MMP3</i> and <i>TIMP2</i> promoter polymorphisms with nonsyndromic oral clefts
Association of <i>AXIN2</i> with Non-syndromic Oral Clefts in Multiple Populations
Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, <i>crispld2</i>, in zebrafish