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A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder2024 Neuropediatrics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
0citations -
Complex structural variation and nonsense variant in trans cause VPS50-related disorder2024 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Laura Hecher, Esther Gorski-Alberts, Matthias Begemann, J. Herwig, Eva Lausberg, Georg Hillebrand, +4 more
5citations -
A Novel APP p.V742L variant in a patient with ischemic small vessel disease enhances FE65 signalling2026 Neurobiology of Disease article Medicine Alzheimer's disease research and treatments Open access
Bas J. B. Voesenek, Julie W. Rutten, Monique P. C. Mulder, Hailiang Mei, Esther A. R. Nibbeling, Ellis S. van Etten, +4 more
2citations -
Altered NaV1.9 channel activity in two Tyr66Ser variant carriers with small fiber dysfunction2025 The Journal of General Physiology article Biochemistry, Genetics and Molecular Biology Ion channel regulation and function
Noortje W.M. van den Braak, Samuel Kuehs, Greta Z. Peschke, Barbara Namer, Annette Lischka, Katja Eggermann, +10 more
1citations -
Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco2023 Bone Reports article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Ingo Kurth, +1 more
6citations -
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism2024 Annals of Clinical and Translational Neurology article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maike Franziska Dohrn, Güney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, +6 more
3citations -
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 -
A Novel MYH14 Variant Presenting as a New Phenotype of MYH14-Associated Neuromuscular Disorders—Clinicohistologic Findings and Review of the Literature2024 Journal of Clinical Neuromuscular Disease article Neuroscience Hereditary Neurological Disorders
Alexander Mensch, Berit Jordan, Joachim Weis, Stefan Nikolin, Ilka Schneider, Angela Abicht, +7 more
0citations -
Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study2023 Journal of Genetic Counseling article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Derk C.F. Klatte, Anke M. Onnekink, Chris Hinnen, Remco van Doorn, Thomas P. Potjer, Monique Esther van Leerdam, +1 more
5citations -
Cell-derived Newcastle disease virus variant with two amino acid substitutions near cleavage site of F shows favorable traits as oncolytic virus2024 Molecular Therapy Oncology article Biochemistry, Genetics and Molecular Biology Virus-based gene therapy research Open access
Marco Huberts, J. Fréderique de Graaf, Daphne Groeneveld, Stefan van Nieuwkoop, Ron A. M. Fouchier, Bernadette G. van den Hoogen
2citations -
Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report2023 European Heart Journal - Case Reports article Medicine Congenital Heart Disease Studies Open access
Marieke Nederend, J. Lauran Stöger, Anastasia D. Egorova, Daniela Q.C.M. Barge‐Schaapveld, Monique R.M. Jongbloed
1citations -
Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant2025 Stem Cell Research article Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Elizaveta Polyakova, Marco C. DeRuiter, Emile Nühn, Monique R.M. Jongbloed
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 -
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 -
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 -
Cancer worry among BRCA1/2 pathogenic variant carriers choosing surgery to prevent tubal/ovarian cancer: course over time and associated factors2022 Supportive Care in Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Majke H.D. van Bommel, Miranda P. Steenbeek, Joanna IntHout, Rosella Hermens, Marline G. Harmsen, Helena C. van Doorn, +14 more
10citations -
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 -
Pancreatic cancer surveillance: Risk stratification of individuals with a germline CDKN2A pathogenic variant2024 United European Gastroenterology Journal article Medicine Pancreatic and Hepatic Oncology Research Open access
Derk C.F. Klatte, Jihane Meziani, Djuna L. Cahen, Merel van Diepen, Marco J. Bruno, Monique Esther van Leerdam
6citations