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International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society|September 10, 2020
Preventing Ovarian Cancer through early Excision of Tubes and late Ovarian Removal (PROTECTOR): protocol for a prospective non-randomised multi-center trialFaiza Gaba, Sadiyah Robbani, Naveena Singh, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 5, 2024
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)Tuya Pal, Katherine R Schon, Esteban Astiazaran-Symonds, et al.American Journal of Human Genetics|September 9, 2025
Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approachCharlie F Rowlands, Sophie Allen, Alice Garrett, et al.Nature Genetics|September 6, 2011
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)Pia Ostergaard, Michael A Simpson, Fiona C Connell, et al.Journal of Medical Genetics|May 11, 2025
UK clinical practice guidelines for the management of patients with constitutional POT1 pathogenic variantsOlga Tsoulaki, D Gareth Evans, Khushboo Sinha, et al.Journal of Medical Genetics|March 9, 2022
UK recommendations for SDHA germline genetic testing and surveillance in clinical practiceHelen Hanson, Miranda Durkie, Fiona Lalloo, et al.Journal of Medical Genetics|September 3, 2024
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classificationCharlie F Rowlands, Alice Garrett, Sophie Allen, et al.Journal of Medical Genetics|August 6, 2026
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testingSian Ellard, Helen Hanson, Emma-Jane Cassidy, et al.Trials|February 2, 2024
Cancer Precision-Prevention trial of Metformin in adults with Li Fraumeni syndrome (MILI) undergoing yearly MRI surveillance: a randomised controlled trial protocolMiriam Dixon-Zegeye, Rachel Shaw, Linda Collins, 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.Pageof 16