Author
Birmingham Women's HospitalORCID 0000-0002-6122-4521Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Nathalie M. Aceves-Ewing, Denise Grant Lanza, Paul C. Marcogliese…·Andrew B. Crouse
The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.
María del Rocío Pérez Baca, María Palomares‐Bralo, Michiel Vanhooydonck…·Stephanie Baskin
This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.
James Fasham, Rucha Pandit, Adam T. Higgins…·Abhijit Dixit
The paper identifies novel TUBA1A variants and shows reduced penetrance of malformations of cortical development in tubulinopathies.
Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha…·Therese Bradley
The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.