Michelle M. Morrow

The paper identifies 253 autism-associated genes using rare variation from 62,429 individuals and finds pleiotropy across physiological systems and developmental disorders.

The paper identifies ABI2 missense variants linked to neurodevelopmental disorders with intellectual disability, epilepsy, and brain malformations through exome sequencing.

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The paper compares pathogenicity features of missense variants in non-human livestock to human genomic data, finding higher odds of pathogenic classification in cross-species variants.

This study uses cancer mutation data and machine learning to predict the pathogenicity of germline missense variants, showing strong performance in identifying disease-causing variants.

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

This study identifies FIBCD1 as a conserved receptor for chondroitin sulphate proteoglycans in the brain ECM, linking it to neurodevelopmental disorders through genetic and functional analyses.