Brett R. Copeland

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

The paper evaluates brain somatic mosaicism in the adult human to identify rules governing cellular distribution during embryogenesis.

The paper shows natural selection optimizes codon usage in the human genome, with dosage-sensitive and cell cycle genes being more intolerant to synonymous variation.

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.

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.