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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.
The Journal of Clinical Endocrinology and Metabolism|May 14, 2013
A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paragangliomaEleanor Rattenberry, Lindsey Vialard, Anna Yeung, et al.
Journal of Clinical Pathology|June 23, 2022
Predicting the likelihood of a BRCA1/2 pathogenic variant being somatic by testing only tumour DNA in non-mucinous high-grade epithelial ovarian cancerRobert D Morgan, George J Burghel, Nicola Flaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 3, 2022
Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK)Lucy Loong, Alice Garrett, Sophie Allen, et al.
European Journal of Human Genetics : EJHG|July 31, 2024
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndromeMarianne Geilswijk, Maurizio Genuardi, Emma R Woodward, et al.
Genetics in Medicine Open|December 13, 2024
Population-based germline testing of BRCA1, BRCA2, and PALB2 in breast cancer patients in the United Kingdom: Evidence to support extended testing, and definition of groups who may not require testingD Gareth Evans, Emma R Woodward, George J Burghel, et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|November 27, 2024
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare SyndromesOrli Michaeli, Sun Young Kim, Sarah G Mitchell, et al.
European Journal of Human Genetics : EJHG|July 12, 2020
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of EnglandNicola Flaum, Robert D Morgan, George J Burghel, et al.
Molecular Genetics & Genomic Medicine|May 27, 2017
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicityRuth T Casey, David B Ascher, Eleanor Rattenberry, et al.
The Journal of Clinical Endocrinology and Metabolism|October 4, 2017
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature ReviewRuth T Casey, Anne Y Warren, Jose Ezequiel Martin, et al.
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