David B. Goldstein

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 pathogenic variant localization by using a hierarchical Bayesian model to estimate sub-regional intolerance, showing better performance in identifying ClinVar pathogenic variants and improving classification of de novo missense variants.

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.

The paper uses whole exome sequencing in 20,197 individuals to identify rare variants associated with Alzheimer's disease, finding significant associations with SORL1 loss-of-function variants.

The paper discusses the role of whole genome sequencing in psychiatric disorders through the WGSPD consortium, aiming to assess its utility compared to other genotyping methods.

The paper uses next-of-kin data from electronic health records to estimate heritability for 500 disease phenotypes, finding results consistent with existing literature.