Gregory S. Barsh

This study identifies Taqpep as a conserved mediator of periodic patterning in mammalian tissues, showing its role in both skin and intestinal development through mutant mouse models.

The paper assesses the presentation and penetrance of three Mendelian disorders in the All of Us cohort using genotype-first ascertainment, finding many undiagnosed individuals with pathogenic variants.

This study investigates the evolutionary origins and dynamics of liver cell architecture across mammals, revealing conserved zonation and rapid evolutionary turnover in zonated genes.

The paper identifies a 5 kb deletion causing Sex-linked orange coat color in cats by ectopic Arhgap36 expression, which inhibits PKA and disrupts melanogenic pathways downstream of Mc1r.

The paper analyzes ancestry and selection in Bengal cats using sequencing data to identify genetic factors underlying coat color traits.

The paper identifies a Neandertal introgressed haplotype in the OAS1 gene associated with increased risk of severe COVID-19 and shows it impairs SARS-CoV-2 clearance through genetic regulation of OAS1 expression.

The paper identifies the developmental genetics of color pattern establishment in cats by analyzing fetal skin and gene expression, revealing the role of Dkk4 in stripe-like epidermal thickness alterations.

This study evaluates genome sequencing in hospitalized newborns, finding it more effective than standard care in identifying genetic diagnoses, especially in those with specific phenotypes.

The paper identifies regulatory modules controlling dog color patterns and shows their evolutionary origin in extinct canids.

The paper develops epigenetic clocks and pacemaker models to predict age in plains zebras and other equids using DNA methylation data from blood samples.

This study analyzes tiger genomes to understand their evolutionary history, finding genetic differentiation, recent divergence, and selection pressures in different subspecies.

This study identifies a non-coding variant in SCN1A that causes aberrant inclusion of a poison exon, leading to reduced Nav1.1 expression and Dravet syndrome in a mouse model.

This study identifies a PEA15 mutation in domestic cats causing lissencephaly and cerebral malformations, revealing a role for PEA15 in gyrencephalic brain development.

The paper evaluates genomic screening in Alabama, finding 51% of identified variants were false positives, with higher rates in African-Americans due to alternative alleles.

The paper presents a chromosome-level genome assembly for the African lion using linked-read, Hi-C, and long-read data, revealing population history insights.

The paper identifies de novo mutations in RALA, a RAS-like GTPase, as a cause of intellectual disability and developmental delay, showing their functional impact on GTP binding and effector interactions.

The paper reports secondary findings in parents of children with developmental delay through genomic sequencing, identifying clinically relevant variants in 9% of participants.

This study analyzes genomic data from 371 children with intellectual disability or developmental delay to identify pathogenic variants and assess diagnostic utility.