Catherine A. Brownstein

Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Early role for a Na ⁺ ,K ⁺ -ATPase ( <i>ATP1A3</i> ) in brain development

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Congenital Heart Defects Due to <i>TAF1</i> Missense Variants

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Clinical management of patients with <i>ASXL1</i> mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance

Whole Exome Sequencing Identifies<i>RAI1</i>Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy