Jacqueline T. Hecht

Characterization of de novo structural variants in trios with orofacial clefts

This study identifies de novo structural variants in individuals with orofacial clefts and finds they contribute to genetic risk, with some variants disrupting known risk genes and suggesting new candidate genes.

Trio-based GWAS reveals novel loci associated with different forms of isolated cleft lip

The paper performs trio-based GWAS on cleft lip subtypes to identify novel genetic loci associated with specific phenotypes.

Comprehensive analysis of de novo variants across 2,497 orofacial cleft trios reveals novel genetic drivers of disease

This study identifies novel genetic drivers of orofacial clefts by analyzing de novo variants in 2,497 trios and integrating findings across subtypes and syndromic status.

Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

Distinguishing syndromic and nonsyndromic cleft palate through analysis of protein-altering de novo variants in 816 trios

The paper identifies protein-altering de novo variants in CP probands, finding higher enrichment in syndromic cases and distinct biological enrichments in single-cell RNA sequencing datasets.

Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk

This study identifies three new genetic loci associated with orofacial cleft risk and confirms known risk genes, providing insights into the molecular mechanisms of facial development.

Genome-wide study of gene-by-sex interactions identifies risks for cleft palate

The paper identifies sex-specific genetic risks for cleft palate through genome-wide gene-by-sex interaction analysis in a trio-based cohort.

Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate

This study performs trio-based GWAS to identify genetic risk factors for cleft palate subtypes, finding a genome-wide significant locus and subtype-specific associations.

Disruption of fos causes craniofacial anomalies in developing zebrafish

This study shows that disrupting fos in zebrafish causes craniofacial anomalies, suggesting a role in nonsyndromic cleft lip and palate.

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

The paper uses whole-exome sequencing to identify rare variants in multiplex families with orofacial clefts, finding variants in seven families but no clear evidence that subclinical phenotypes clarify inheritance patterns.

Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting

The paper estimates the diagnostic yield of sequencing 418 genes in OFC cases and controls, finding a higher prevalence of likely pathogenic variants in cases.

zFACE: Facial Analytics from a Coordinate Extrapolation System for Developing Zebrafish

The paper introduces zFACE, a method for analyzing craniofacial development in zebrafish embryos, showing that smarca4a loss causes craniofacial anomalies similar to human Coffin-Siris syndrome.

Genome-wide interaction study implicates VGLL2 and alcohol exposure and PRL and smoking in orofacial cleft risk

The paper identifies gene-environment interactions associated with orofacial cleft risk, highlighting VGLL2 and PRL as key genes interacting with alcohol and smoking, respectively.

Impact of low-frequency coding variants on human facial shape

The paper investigates the impact of low-frequency coding variants on facial shape in Europeans, identifying seven genes associated with facial morphology and showing a specific variant's effect on chin shape.

Coding de novo mutations identified by WGS reveal novel orofacial cleft genes

The paper identifies coding de novo mutations in whole-genome sequencing data from OFC cases and finds enrichment in genes expressed in craniofacial tissues and linked to OFC syndromes.

Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21

This study uses whole genome sequencing of OFC trios to identify a new locus on chromosome 21 associated with OFCs in Colombian families.

A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals

The paper develops a framework to analyze subtype-specific and shared genetic effects in orofacial clefting and applies it to identify loci associated with different subtypes.

Genome Wide Interaction Studies Identify Sex-Specific Risk Alleles for Nonsyndromic Orofacial Clefts

The paper identifies sex-specific risk alleles for nonsyndromic orofacial clefts through genome-wide interaction studies, finding a significant gene-by-sex effect at the 10q21 locus.