Claire Mitchell

Defective importin β recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations

Vincent R. Harley, Sharon Layfield, Claire Mitchell et al. · Proceedings of the National Academy of Sciences · 2003 · 151 citations · Full text

Life Sciences, Genetics, Molecular Biology +15

Prevalence of aphasia and dysarthria among inpatient stroke survivors: describing the population, therapy provision and outcomes on discharge

Claire Mitchell, Matthew Gittins, Sarah Tyson et al. · Aphasiology · 2020 · 141 citations · Full text

Health Professions, Communication, Neurology +17

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis

Claire Mitchell, Vincent R. Harley · Molecular Genetics and Metabolism · 2002 · 63 citations

Life Sciences, Genetics, Molecular Genetics +16

Junctophilin 3 (<i>JPH3</i>) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype

Amanda Krause, Claire Mitchell, Fahmida Essop et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2015 · 57 citations

Life Sciences, Genetics, Molecular Genetics +17

Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England

Nicola Flaum, Robert D. Morgan, George J. Burghel et al. · European Journal of Human Genetics · 2020 · 33 citations · Full text

Medicine, Gynecology, Oncology +15