Sahar Gelfman

The paper identifies a NOTCH3 variant, p.Arg1231Cys, enriched in South Asians and strongly associated with stroke risk, highlighting the importance of genetic diversity in stroke research.

This paper presents the largest catalog of human protein-coding variation from 985,830 individuals, identifying rare variants and their functional implications for precision medicine.

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

This study identifies GNB1 mutations causing neurodevelopmental disorder and shows ethosuximide effectively treats symptoms in mouse and cellular models.

The paper applies two novel collapsing methods to ALS sequencing data to identify risk regions in known ALS genes and candidate genes.

The paper improves signal detection analyses by incorporating prior information into gene-set analyses, showing increased power in detecting disease associations in ALS.

The paper introduces meaRtools, an R package for analyzing neuronal network data from microelectrode arrays, demonstrating its ability to identify epilepsy-like phenotypes in Celf4 knockout mice.