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Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study2022 BMC Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Eveline M. A. Bleiker, Inge M. van Oort, Lambertus A.L.M. Kiemeney, Margreet G.E.M. Ausems
14citations -
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study2023 Acta Ophthalmologica article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Jessica S. Karuntu, Xuan‐Thanh‐An Nguyen, Mays Talib, Mary J. van Schooneveld, Jan Wijnholds, Maria M. van Genderen, +9 more
9citations -
New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements2021 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Craniofacial Disorders and Treatments Open access
Vanessa Luiza Romanelli Tavares, Sofia Ligia Guimarães-Ramos, Yan Zhou, Cibele Masotti, Suzana Ezquina, Danielle de Paula Moreira, +5 more
8citations -
A multilevel perspective on MSH6 ‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights2026 International Journal of Cancer review Medicine Genetic factors in colorectal cancer Open access
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman
3citations -
Kidney Cysts in Autosomal Dominant Polycystic Kidney Disease and Alport Syndrome: Two Familial Cases Illustrating Diagnostic Challenges2025 American Journal of Kidney Diseases article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Thomas Bais, Loes Elferink, Karin G. F. Gerritsen, Tineke Kraaij, Ron T. Gansevoort, Martijn J. de Groot, +1 more
3citations -
Evaluation of BRCA1/2 testing rates in epithelial ovarian cancer patients: lessons learned from real-world clinical data2025 Familial Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Lieke Lanjouw, Claire J.H. Kramer, Arja ter Elst, Geertruida H. de Bock, Katja N. Gaarenstroom, Refika Yigit, +10 more
2citations -
The Genetic Profile of Large B-Cell Lymphomas Presenting in the Ocular Adnexa2024 International Journal of Molecular Sciences article Medicine Lymphoma Diagnosis and Treatment Open access
Stine Dahl Vest, Patrick René Gerhard Eriksen, Fleur A. de Groot, Ruben A. L. de Groen, Anne H. R. Kleij, Marina Knudsen Kirkegaard, +7 more
2citations -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Myrthe R. M. Kamphof, Bodo Laube, Gijs W.E. Santen, Hanna Swaab, +1 more
0citations -
Different underlying aetiologies in patients presenting with ventricular tachycardia fulfilling task force criteria for arrhythmogenic right ventricular cardiomyopathy: initial suspicion based on the 12-lead electrocardiogram
Jarieke C. Hoogendoorn, Laurens P. Bosman, Jeroen F. van der Heijden, Arthur A.M. Wilde, Maarten P. van den Berg, Sing‐Chien Yap, +4 more
0citations -
Demographic and Clinical Characteristics of People with Activated Phosphoinositide 3-Kinase Delta Syndrome in the APDS Characterization and Clinical Outcomes Immunologic Registry2025 Journal of Human Immunity article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Nicholas Hartog, Valeria Duran, Andrew Frick, Kelli Wong Williams, Nicholas L. Rider, Jason P. Raasch, +2 more
0citations -
Structural modelling predicts that fibrocystin destabilisation is a pathogenic cause of ARPKD2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Travis Bannell, Naveen Mathew, Kathrin Burgmaier, Max C. Liebau, Colin A. Johnson, Joseph J. B. Cockburn
0citations -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Figshare supplementary-materials Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Kristina I. Lemke, Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, +4 more
0citations -
Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions2026 Acta Neuropathologica Communications article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Alina Filatova, Joanna Chiang, Hannah North, Myrthe R. M. Kamphof, Michaela Becker-Röck, Bodo Laube, +3 more
0citations -
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype2021 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic and Kidney Cyst Diseases Open access
Sarah R. Senum, Ying Li, Katherine Angela Benson, Giancarlo Joli, Eric Gregory Olinger, Sravanthi Lavu, +22 more
180citations