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Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis2021 Genes article Biochemistry, Genetics and Molecular Biology Dermatological and Skeletal Disorders Open access
Yentl Huybrechts, Eveline Boudin, Gretl Hendrickx, Ellen Steenackers, Neveen A. T. Hamdy, Geert R. Mortier, +4 more
9citations -
Association of Salpingectomy With Delayed Oophorectomy Versus Salpingo-oophorectomy With Quality of Life in BRCA1/2 Pathogenic Variant Carriers2021 JAMA Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Miranda P. Steenbeek, Marline G. Harmsen, Angela H.E.M. Maas, Judith B. Prins, Johan Bulten, Steven Teerenstra, +17 more
85citations -
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Xin Yang, Thea M. Mooij, Goska Leslie, Lorenzo Ficorella, Nadine Andrieu, Karin Kast, +34 more
16citations -
Evaluation of a patient decision aid for BRCA1/2 pathogenic variant carriers choosing an ovarian cancer prevention strategy2021 Gynecologic Oncology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Miranda P. Steenbeek, Majke H.D. van Bommel, Marline G. Harmsen, Helena C. van Doorn, José H.M. Keurentjes, Marc van Beurden, +12 more
7citations -
Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers
Robert H. E. Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, D. Gareth Evans, +12 more
77citations -
Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance2025 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Maria Zanti, Fonnet E. Bleeker, Marinus J. Blok, Merel E. Braspenning, Marta Černá, +16 more
1citations -
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance2022 Human Molecular Genetics article Medicine Cardiac electrophysiology and arrhythmias Open access
Jaël S. Copier, Marianne Bootsma, Chai‐Ann Ng, Arthur A.M. Wilde, Robin A. Bertels, Hennie Bikker, +12 more
5citations -
Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation2023 JNCI Journal of the National Cancer Institute article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mark van Barele, Delal Akdeniz, Bernadette A. M. Heemskerk‐Gerritsen, Nadine Andrieu, Catherine Noguès, Christi J. van Asperen, +28 more
11citations -
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, +78 more
147citations -
Cardiovascular disease risk after breast cancer treatment in patients with a BRCA1/2 pathogenic variant2024 Breast Cancer Research and Treatment article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lara Terra, Naomi B. Boekel, Margriet J Collee, Marjanka K. Schmidt, Muriel A. Adank, Marleen Kok, +6 more
1citations -
Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study2026 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maartje A. C. Schreurs, Antoinette Hollestelle, Muriel A. Adank, Yvonne V. Louwers, Christie J. van Asperen, Margreet G.E.M. Ausems, +10 more
0citations -
Pancreatic Cancer Surveillance in Carriers of a Germline CDKN2A Pathogenic Variant: Yield and Outcomes of a 20-Year Prospective Follow-Up2022 Journal of Clinical Oncology article Medicine Pancreatic and Hepatic Oncology Research Open access
Derk C.F. Klatte, Bas Boekestijn, Martin N.J.M. Wasser, Shirin Feshtali Shahbazi, Isaura S. Ibrahim, J. Sven D. Mieog, +10 more
101citations -
Information needs on breast cancer genetic and non-genetic risk factors in relatives of women with a BRCA1/2 or PALB2 pathogenic variant2021 The Breast article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Anne Brédart, Antoine De Pauw, Amélie Anota, Anja Tüchler, Julia Dick, A. G. S. Muller, +6 more
11citations -
Melanoma arising from pre-existing naevus in carriers of a germline CDKN2A pathogenic variant2024 British Journal of Dermatology article Medicine Cutaneous Melanoma Detection and Management Open access
Daan Jan Willem Rauwerdink, Anne M.R. Schrader, Thomas P. Potjer, Ellen Kapiteijn, Jos A. van der Hage, Remco van Doorn
2citations -
Individualised progesterone receptor modulator prevention strategies for triple-negative breast cancer in BRCA1 pathogenic variant carriers2026 npj Breast Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Martin Widschwendter, Rita Schmutzler, Nora Pashayan, Jelle Wesseling, Marc D. Tischkowitz, Michal Zikan, +22 more
0citations -
Breast Density Changes after Risk-Reducing Salpingo-oophorectomy in Women with a Pathogenic Germline Variant in BRCA1 or BRCA22025 Cancer Epidemiology Biomarkers & Prevention article Medicine Digital Radiography and Breast Imaging Open access
Elizabeth A. Loehrer, Frederieke H. van der Baan, Thea M. Mooij, Nadine Andrieu, Antonis C. Antoniou, Monique D. Dorrius, +12 more
0citations -
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments2025 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
David Cheerie, Margaret M. Meserve, Danique Beijer, Charu Kaiwar, Logan Newton, Ana Lisa Taylor Tavares, +33 more
31citations