S. Palmer-Smith

Population based study of late onset cerebellar ataxia in south east Wales

D Ravine, P S Harper, C. Wiles, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

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

D. Baralle, S. Ellard, D. Eccles, 2020, Journal of Medical Genetics.

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

P. Grant, R. Scott, S. Naidu, 2018, Brain sciences.

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

Res, P. Grant, R. Scott, 2018, Brain sciences.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

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

A. Mullard, E. Hudson, S. Morgan, 2021, BJOG : an international journal of obstetrics and gynaecology.

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

P. Tarpey, D. Baralle, J. Tolmie, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

W. Berger, A. Fry, J. Zech, 2012, European Journal of Human Genetics.

Identification of five novel SPRED1 germline mutations in Legius syndrome

G. Spurlock, U. Kini, M. Upadhyaya, 2011, Clinical genetics.