Justin L. Cotney

The paper identifies shared and distinct genetic architectures for cardiac structure and function using UK Biobank data, revealing common variants influencing multiple chambers and phenotypic variability.

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.

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

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 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 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 a gene regulatory network controlled by SNORD116 snoRNAs and predicts their targets in Prader-Willi syndrome using isogenic cell lines and computational analysis.

The paper develops isogenic human embryonic stem cell lines modeling Angelman and Prader-Willi syndromes to study allele-specific gene regulation and therapeutic approaches.

This study shows that overexpressing the potassium channel subunit Kcnn1 in ALS and alpha-synuclein mouse models extends survival and reduces protein aggregation by inducing stress response pathways.

The paper identifies a critical noncoding superenhancer region essential for regulating anterior HOXA genes in craniofacial development, showing its deletion causes severe developmental defects in mice and a human patient.

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

This study investigates the role of Dkk2 in palatogenesis using Pax9-/- mouse models and spatial multiomics data, revealing its spatial relationship with osteogenic populations.

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

The paper identifies candidate dental disease genes by integrating chromatin state, bulk gene coexpression, and single-cell RNA sequencing data from developing mouse teeth.

The paper identifies a gene signature specific to the enamel knot in developing mouse molars using scRNA-seq data and validates novel marker genes.

The paper identifies human-specific substitutions affecting enhancer activity in neurodevelopmental regions by testing their impact in human neural stem cells.

The paper shows that disrupting ZNF274 binding at SNORD116 activates its maternal allele in PWS neurons without altering ZNF274 levels, suggesting a therapeutic strategy for Prader-Willi syndrome.

This study investigates the role of Irf6 and Esrp1/2 in craniofacial development across mouse and zebrafish, identifying their expression patterns and genetic interactions in cleft formation.

The paper disrupts enhancers and genes in human neural stem cells to study their effects on proliferation and identifies regulatory elements linked to neurodevelopmental disorders.

This study identifies a bipartite boundary element that restricts UBE3A antisense transcript expression to neurons, essential for UBE3A imprinting in Angelman syndrome.

The paper identifies unique cortical enhancers that enable cell-type-specific genetic tools through Enhancer-Driven Gene Expression.

The paper creates an epigenomic atlas of early human craniofacial development, identifies novel enhancers, and links them to HOXA genes involved in craniofacial abnormalities.