Sheila Palmer-Smith

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

Alice Garrett, Alison Callaway, Miranda Durkie et al. · Journal of Medical Genetics · 2020 · 54 citations · Full text

Life Sciences, Genetics, Oncology +17

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome

Barbara Kloeckener‐Gruissem, John Neidhardt, I Magyar et al. · European Journal of Human Genetics · 2012 · 46 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

Jennifer F. Gardner, Thomas D. Cushion, Georgios Niotakis et al. · Brain Sciences · 2018 · 21 citations · Full text

Life Sciences, Genetics, Neuroscience +17

The detection of germline and somatic <i>BRCA1/2</i> genetic variants through parallel testing of patients with high‐grade serous ovarian cancer: a national retrospective audit

Bethan Frugtniet, Sue Morgan, Alexandra Murray et al. · BJOG An International Journal of Obstetrics & Gynaecology · 2021 · 19 citations · Full text

Medicine, Genetics, Oncology +17

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