Sarah Shepherd

Genetic epidemiology of malignant hyperthermia in the UK

Dorota Miller, C.L. Daly, E.M. Aboelsaod et al. · British Journal of Anaesthesia · 2018 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene

Sarah Shepherd · Journal of Medical Genetics · 2004 · 71 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for <i>RYR1</i> -related malignant hyperthermia susceptibility

Jennifer J. Johnston, Robert T. Dirksen, Thierry Girard et al. · Human Molecular Genetics · 2022 · 57 citations · Full text

Medicine, Molecular Genetics, Pathology +14

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

Lucy Loong, Cankut Çubuk, Subin Choi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +14