Anna Hurst

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 74 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

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 · 56 citations · Full text

Medicine, Genetics, Pediatrics +11