Bianca E. Russell

This paper shows that truncating ASXL1 variants disrupt mitochondrial pyruvate transport, leading to metabolic changes and Wnt signaling dysregulation in Bohring-Opitz syndrome and myeloid leukemia.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

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.

The paper identifies DDX53 genetic variants in individuals with ASD, showing a link between DDX53 and ASD, and highlights implications for genetic testing and mouse modeling.

This paper resolves ring chromosomes, Robertsonian translocations, and complex structural variants using long-read sequencing and telomere-to-telomere assembly, revealing breakpoint structures and methylation changes.

The paper identifies how ASXL1 mutations disrupt the epigenome and activate Wnt signaling pathways in Bohring-Opitz syndrome and myeloid leukemias.

The paper identifies de novo MRTFB variants in humans linked to a neurodevelopmental disorder and shows their gain of function activity in Drosophila with specific phenotypes.