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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 -
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 -
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar D M Rodríguez-Girondo
0citations -
Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies2026 BJC Reports article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Isaac Allen, Nancy Whish, Siddhartha Yadav, Nicholas James Boddicker, Caroline A. Drukker, Irma van de Beek, +8 more
0citations -
Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences2021 Hereditary Cancer in Clinical Practice article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mary E. Velthuizen, Rob B. van der Luijt, B.J. de Vries, Marco J. Koudijs, Eveline M. A. Bleiker, Margreet G.E.M. Ausems
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 -
Clinical and Genetic Analysis of L-2-Hydroxyglutaric Aciduria Caused by a Novel L2HGDH Mutation with a Concurrent RYR1 Variant2026 Genes article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders Open access
Zahra Beyzaei, Seyed Mohsen Dehghani, Bita Geramizadeh, Ralf Weiskirchen
0citations -
Novel Findings in Pediatric and Adolescent Patients With Cancer and a Germline SMARCA4 Variant2025 Pediatric Blood & Cancer article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Nienke van Engelen, Ronald R. de Krijger, Michelle M Kleisman, Lennart A. Kester, Saskia M. J. Hopman, Mariëtte E.G. Kranendonk, +7 more
3citations -
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact2025 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Céline Léon, Marie‐Françoise Odou, Bertrand Roquelaure, Mathias Ruiz, Carolin Victoria Schneider, Céline Renoux, +17 more
0citations -
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 -
Surgical outcomes after pancreatic surgery in patients with a germline CDKN2A/p16 pathogenic variant under surveillance2023 British journal of surgery article Medicine Pancreatic and Hepatic Oncology Research Open access
Anke M. Onnekink, Nynke Michiels, Derk C.F. Klatte, Lotte Oldenburg, J. Sven D. Mieog, Alexander L. Vahrmeijer, +3 more
3citations -
Variant mapping using mass spectrometry–based proteotyping as a diagnostic tool in von Willebrand disease2024 Journal of Thrombosis and Haemostasis article Medicine Platelet Disorders and Treatments Open access
Iris charlotte Kreft, Tirsa T van Duijl, Calvin B. van Kwawegen, Ferdows Atiq, Winny Phan, Margo B. P. Schuller, +8 more
11citations -
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II2024 American Journal of Medical Genetics Part A article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Mackenna E. Schouw, Claudia A. L. Ruivenkamp, Tamara T. Koopmann, Gijs W.E. Santen, Peter G. J. Nikkels, Karin van der Tuin
2citations -
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group2021 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Jette J. Bakhuizen, Helen Hanson, Karin van der Tuin, Fiona I. Lalloo, Marc D. Tischkowitz, Karin Wadt, +37 more
61citations -
Development of cardiovascular risk factors in women with a BRCA1/2 pathogenic variant within five years after tubo-ovarian cancer risk reduction in the TUBA study2026 Maturitas article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Tamar Anna Gootzen, Marleen Mhj Van Gelder, Rosella P.m.g. Hermens, Majke H.D. van Bommel, Mirjam J. A. Apperloo, Monique M.A. Brood-van Zanten, +18 more
2citations