Eleanor Feingold

The paper evaluates cognitive decline measures for genetic studies in Alzheimer's disease using simulations, finding that simpler measures like Slope and dMMSE/dt are more powerful.

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

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.

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

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

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

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.

This study identifies 203 genomic regions associated with facial variation using GWAS on multivariate shape phenotypes, revealing novel regions and epistatic interactions.

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.

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

This study identifies 24 genetic loci associated with facial shape variation in humans through GWAS and confirms 13 of them in a multi-ethnic cohort.

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.

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.

The paper investigates genetic overlap between non-syndromic cleft lip/palate and facial morphology using polygenic risk scores and Mendelian randomization, finding a causal relationship with philtrum width.