Bryn D. Webb

The paper develops a machine learning model to prioritize genes for newborn sequencing programs based on factors like evidence of disease natural history and treatment efficacy.

This study characterizes a neurodevelopmental disorder caused by bi-allelic SLC31A1 mutations, showing severe clinical features and mitochondrial dysfunction.

The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.

This study investigates emotion perception in individuals with Moebius Syndrome, finding reduced sensitivity to facial expressions despite normal perceptual control tasks.

The paper evaluates a comprehensive pan-ethnic carrier screening panel across 282 monogenic diseases in 397,540 patients, showing it identifies 10-times more at-risk carrier couples than a two-gene panel and provides cost savings.