Sarah W. Curtis

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.

Conservation of transcriptional regulatory networks in zebrafish and human periderm facilitates identification of GRHL1 as an orofacial cleft risk gene

The paper identifies GRHL1 as an orofacial cleft risk gene by analyzing conserved transcriptional regulatory networks between zebrafish and human periderm using single-cell multiome sequencing and functional validation.

Zfp750 prevents oral adhesions and promotes temporary epithelial fusions

The paper investigates the role of Zfp750 in periderm development and orofacial cleft risk by analyzing genetic variants and mouse models.

Identification of functional non-coding variants associated with orofacial cleft

This study identifies functional non-coding variants associated with orofacial cleft by combining GWAS, reporter assays, and stem cell modeling.

Functional annotation of de novo variants found near GWAS loci associated with cleft lip with or without cleft palate

The paper annotates de novo variants near GWAS loci for cleft lip with or without cleft palate, finding noncoding variants in enhancer regions associated with craniofacial development genes.

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.

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk

This paper presents a single-nucleus RNA sequencing atlas of human craniofacial development, revealing cell type contributions to facial variation and disease risk.

Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis

The paper functionally tests ESRP1/2 variants and CTNND1 isoforms in orofacial cleft models, finding some variants are benign and showing CTNND1's role in palatogenesis.

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.

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.

Rare genetic variants in SEC24D modify orofacial cleft phenotypes

This study identifies rare variants in SEC24D associated with orofacial cleft subtypes and shows they affect transcription factor binding sites.

Efficient Estimation of Indirect Effects in Case-Control Studies Using a Unified Likelihood Framework

The paper introduces a unified likelihood framework for mediation analysis in case-control studies to improve efficiency of indirect effect estimates by leveraging exposure-mediator relationships.

FAT4 Identified as a Potential Modifier of Orofacial Cleft Laterality

The paper identifies a genetic modifier, FAT4, associated with left-sided cleft lip and palate, suggesting genetic factors differ from epidemiological patterns.

The PAX1 locus at 20p11 is a modifier for bilateral cleft lip only

The paper investigates genetic differences between bilateral and unilateral cleft lip and palate subtypes using genome-wide association studies and finds distinct genetic architectures.