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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 -
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact2025 Figshare other Biochemistry, Genetics and Molecular Biology Protease and Inhibitor Mechanisms Open access
Céline Léon, Céline Renoux, Malika Balduyck, Cyril Dourthe, Jean‐William Dupuy, Anne‐Aurélie Raymond, +2 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 conserved glycan motif overcomes antigenic variation inducing broadly reactive antibodies against the zoonotic pathogen Streptococcus suis2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Streptococcal Infections and Treatments Open access
Yao Shi, Göran Widmalm, Charlotte Sorieul, Thomas J. Roodsant, Jeffrey S. Rush, Natalia Korotkova, +15 more
0citations -
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, Marieke de Jong-Arts, +20 more
2citations -
Validation of the BOADICEA Model in a Prospective Cohort of BRCA1/2 Pathogenic Variant Carriers2024 medRxiv preprint 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
2citations -
The NR5A1/SF-1 variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations2023 PLoS ONE article Biochemistry, Genetics and Molecular Biology Sexual Differentiation and Disorders Open access
Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay‐Sara Sauter, +12 more
11citations -
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