Elizabeth J. Leslie

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.

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

This study uses a pleiotropy-informed GWAS method to identify new orofacial cleft risk loci by leveraging genetic associations with facial shape.

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.

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.

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

The paper maps human DNA replication origins using whole-genome sequencing data, identifying a 16 bp motif and periodicity, and links replication activity to gene expression and genetic variation.

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.

The paper identifies a novel epithelial population, Zippering Lambda, whose cell cycle arrest is critical for facial prominence fusion and is disrupted in orofacial clefting.

The paper investigates gene-environment interactions involving maternal exposures and orofacial cleft risk in Filipinos, identifying suggestive interactions with smoking and vitamin use.

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

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.

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

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.

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.

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

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

This study performs genome-wide association analyses of congenital heart defects in Down syndrome, identifying suggestive loci associated with specific heart defect subtypes.

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.

The PING Consortium builds a genomic data repository to study genetic modifiers of prenatal viral infections' effects on brain development and neurodevelopmental outcomes.

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.

The paper identifies novel disease candidate genes in craniofacial development using transcriptomics data and coexpression networks.

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.

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.

POIROT detects parent-of-origin effects in GWAS by comparing phenotypic covariance matrices across genotypes, showing improved power and robustness to non-normality.

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

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.

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

This study investigates the molecular effects of the 3q29 deletion on the human neural transcriptome, identifying convergent and distributed impacts across gene clusters and pathways related to psychiatric disorders.

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