Anna Hurst

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Lina Liang, Xia Li, Sébastien Moutton et al. · Human Molecular Genetics · 2019 · 90 citations · Full text

Genetics, Synaptic Transmission, Molecular Genetics +31

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice

Dianalee McKnight, Ana Morales, Kathryn E. Hatchell et al. · JAMA Neurology · 2022 · 87 citations · Full text

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Carole Le Coz, David N. Nguyen, Chun Su et al. · The Journal of Experimental Medicine · 2021 · 68 citations · Full text

Pu.1 Deficiency, Lymphocyte Development, Genetics +21

Genome sequencing as a first-line diagnostic test for hospitalized infants

Kevin M. Bowling, Michelle L. Thompson, Candice R. Finnila et al. · Genetics in Medicine · 2021 · 54 citations · Full text

Early Diagnosis, Neonatology, Newborn Screening +7

DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés et al. · Genetics in Medicine · 2021 · 48 citations · Full text

Molecular Neuroscience, Corticobasal Degeneration, Neurological Disorder +8