Nicholas Katsanis

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

The paper analyzes a Mexican FH cohort to show rare and common alleles in FH genes and a novel locus contribute to disease risk, with replication in UK Biobank.

DISC1-PML protein interaction for congenital CMV infection-induced cortical neural progenitor deficit: perturbance of host signaling via viral IE1

This study identifies the role of CMV viral protein IE1 in disrupting host DISC1-PML interaction, leading to neural progenitor deficits in congenital CMV infection.

Diverse ancestral representation improves genetic intolerance metrics

This study shows that genetic diversity improves the performance of intolerance metrics in identifying disease-related genes, with multi-ancestry data outperforming European-only datasets.

Polygenic risk score portability for common diseases across genetically diverse populations

This study evaluates polygenic risk score (PRS) performance across four ancestry groups for 14 diseases, finding that ancestry-specific PRS models improve accuracy and identifying cross-trait interactions.

Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.

This study validates and automates polygenic risk score (PRS) development for cardiometabolic diseases using direct-to-consumer genetic and phenotypic data, showing comparable performance to larger clinical datasets.

A cross-disorder dosage sensitivity map of the human genome

This study identifies 114 genome-wide significant rare CNV-disease associations across 30 neurological disorders, revealing 38 novel triplosensitive genes and developing a model to predict dosage sensitivity.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.

Analysis of single nucleotide variants in CRISPR-Cas9 edited zebrafish embryos shows no evidence of off-target inflation

The paper analyzes single nucleotide variants in CRISPR-Cas9 edited zebrafish embryos and finds no evidence of increased off-target mutations in subsequent generations.

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

The paper investigates the oligogenic effects of 16p11.2 copy number variation on craniofacial development across species, showing that individual genes and their combinations influence facial structure.

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus

The paper identifies ASPHD1 as a key driver of reproductive traits in the 16p11.2 locus using biobank data, Mendelian randomization, and animal models.

Gclc deletion in surface-ectoderm tissues induces microphthalmia

This study shows that Gclc deletion in surface-ectoderm tissues causes microphthalmia in mice and zebrafish, indicating a conserved role in eye development.

Genetic variation across the human olfactory receptor repertoire alters odor perception

The paper investigates how genetic variation in olfactory receptors affects odor perception by analyzing sequencing data and phenotypes from 332 individuals.

Survey of human chromosome 21 gene expression effects on early development in Danio rerio

The paper screens Hsa21 gene overexpression in zebrafish to study dosage-sensitive effects on early development and identify potential contributors to Down syndrome pathology.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

The paper identifies biallelic UNC45A mutations as the cause of O2HE syndrome, characterized by cholestasis, congenital diarrhea, hearing loss, and bone fragility.