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Journal of Medical Genetics|March 13, 2025
Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancerBethany Torr, Grace Kavanaugh, Monica Hamill, et al.European Journal of Human Genetics : EJHG|March 19, 2015
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningWybo Dondorp, Guido de Wert, Yvonne Bombard, et al.Lancet (London, England)|December 2, 2021
Food choice in transition: adolescent autonomy, agency, and the food environmentLynnette M Neufeld, Eduardo B Andrade, Ahna Ballonoff Suleiman, 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.British Journal of Cancer|September 30, 2024
BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trialBethany Torr, Christopher Jones, Grace Kavanaugh, et al.The Journal of Clinical Endocrinology and Metabolism|May 24, 2007
Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasiaMarianthi Georgitsi, Anniina Raitila, Auli Karhu, et al.Proceedings of the National Academy of Sciences of the United States of America|April 9, 2008
Unregulated smooth-muscle myosin in human intestinal neoplasiaPia Alhopuro, Denis Phichith, Sari Tuupanen, et al.European Journal of Human Genetics : EJHG|June 26, 2019
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac deathFlorence Fellmann, Carla G van El, Philippe Charron, et al.Journal of Medical Genetics|July 22, 2022
A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilotBethany Torr, Christopher Jones, Subin Choi, et al.Science Translational Medicine|January 10, 2024
Prospective study design and data analysis in UK BiobankNaomi E Allen, Ben Lacey, Deborah A Lawlor, et al.Pageof 11