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Familial Cancer|March 25, 2014
Intronic splicing mutations in PTCH1 cause Gorlin syndromeZaynab Bholah, Miriam J Smith, Helen J Byers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2023
Validation of lung cancer polygenic risk scores in a high-risk case-control cohortMikey B Lebrett, Miriam J Smith, Emma J Crosbie, et al.
European Journal of Human Genetics : EJHG|August 28, 2014
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndromeBinnaz Yasar, Helen J Byers, Miriam J Smith, et al.
Human Mutation|December 1, 2015
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesMiriam J Smith, Jill E Urquhart, Elaine F Harkness, et al.
American Journal of Human Genetics|August 4, 2018
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian CancerD Gareth R Evans, Elke M van Veen, Helen J Byers, et al.
Familial Cancer|March 25, 2021
Extended gene panel testing in lobular breast cancerElke M van Veen, D Gareth Evans, Elaine F Harkness, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Clinical utility of testing for PALB2 and CHEK2 c.1100delC in breast and ovarian cancerEmma R Woodward, Elke M van Veen, Claire Forde, et al.
Journal of Medical Genetics|March 24, 2021
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancerD Gareth Evans, Elke Maria van Veen, Helen J Byers, et al.
The Lancet. Neurology|July 19, 2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case seriesJ Robert Harkness, John H McDermott, Shea Marsden, et al.
American Journal of Human Genetics|August 3, 2024
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing datasetAimee L Davidson, Kyriaki Michailidou, Michael T Parsons, et al.
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