Marcie Steeves

Development of a clinical polygenic risk score assay and reporting workflow

Limin Hao, Peter Kraft, Gabriel F. Berriz et al. · Nature Medicine · 2022 · 180 citations · Full text

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders

Sónia Barbosa, Stephanie Greville‐Heygate, Maxime Bonnet et al. · The American Journal of Human Genetics · 2020 · 105 citations · Full text

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Whitney Wooderchak‐Donahue, Peter Johnson, Jamie McDonald et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text

Vascular Disease, Molecular Findings, Vasculitis +7

Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization

Carrie L. Blout Zawatsky, Nidhi Shah, Kalotina Machini et al. · The American Journal of Human Genetics · 2021 · 69 citations · Full text