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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 -
Stepwise ABC system for classification of any type of genetic variant2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 2 patents
Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen
102citations -
A missense variant effect map for the human tumour suppressor protein CHK22024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Marinella Gebbia, Daniel Zimmerman, Rosanna Jiang, Jochen Weile, Roujia Li, Michelle Gavac, +9 more
1citations -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2025 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +87 more
11citations -
Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance2022 bioRxiv (Cold Spring Harbor Laboratory) preprint 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
1citations -
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 -
Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Maria Zanti, Denise G O'Mahony, Michael T. Parsons, Leila Dorling, Joe Dennis, Nicholas James Boddicker, +91 more
3citations -
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 Classification2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar Rodríguez‐Girondo
1citations -
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 -
Abstract 4363865: Unaffected Carriers of a Pathogenic BMPR2 Variant Exhibit a Distinct Cytokine Signature Associated with Subclinical Changes on Right Ventricular and Pulmonary Vascular Imaging
Clarissa Becher, Carolina Janssen-Telders, Jessie van Wezenbeek, Aida Llucià Valldeperas, JanWillem Duitman, Marie‐José Goumans, +2 more
0citations -
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 dissertation 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