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Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database2020 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Mev Dominguez–Valentin, Toni T. Seppälä, Christoph Engel, Stefan Aretz, Finlay Macrae, Ingrid Winship, +39 more
23citations -
The variant T allele of PvuII in ESR1 gene is a prognostic marker in early breast cancer survival2021 Scientific Reports article Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies Open access
Danny Houtsma, Stefanie de Groot, Renée F. Baak-Pablo, Elma Meershoek‐Klein Kranenbarg, Caroline Seynaeve, Cornelis J.�H. van de Velde, +4 more
8citations -
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä, Julian R. Sampson, Lone Sunde, Inge Bernstein, +93 more
123citations -
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes2023 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Maria Sáez González, Kes Kloosterhuis, Laura A. van de Pol, Frank F. Baas, Harald M. M. Mikkers
18citations -
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Benjamin Billiet, Patrizia Amati‐Bonneau, Valérie Desquiret‐Dumas, Khadidja Guehlouz, Dan Miléa, Philippe Gohier, +5 more
20citations -
863 different causes of Rett syndrome and lessons learned from data integration.2020 preprint Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, +6 more
1citations -
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, +6 more
37citations -
Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants2024 Neurogenetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Lena Sagi‐Dain, Annemieke M Aartsma-Rus, Moran Echar, Julia Grinshpun‐Cohen, Amihood Singer
1citations -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition2022 Molecular Psychiatry article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elizabeth E. Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow, +89 more
35citations -
Schema-Driven Interoperability of Biomedical Data Resources for Improved Knowledge Dissemination and Reuse2026 Zenodo (CERN European Organization for Nuclear Research) article Computer Science Research Data Management Practices Open access
Egon Willighagen, Tooba Abbassi‐Daloii, Anna Niehues, Magnus Palmblad, Hailiang Mei, Eleni Mina, +2 more
2citations -
ACO2 clinicobiological dataset with extensive phenotype ontology annotation2021 Scientific Data data-paper Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati‐Bonneau, Majida Charif, Estelle Colin, Céline Bris, +9 more
8citations -
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access
Manon H. C. A Peeters, Mubeen Khan, Anoek A. M. B Rooijakkers, Timo W. F. Mulders, Lonneke Haer‐Wigman, Camiel J. F. Boon, +7 more
42citations