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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 -
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 -
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 -
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 122020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer
Laëtitia Meulemans, Romy L.S. Mesman, Sandrine M. Caputo, Sophie E. Krieger, Marine Guillaud-Bataille, Virginie Caux‐Moncoutier, +25 more
34citations -
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
5citations -
SARS-CoV-2-neutralising monoclonal antibodies for treatment of COVID-192021 Cochrane Database of Systematic Reviews article Medicine SARS-CoV-2 and COVID-19 Research Open access cited by 11 patents
Nina Kreuzberger, Caroline Hirsch, Khai Li Chai, E. Tomlinson, Zahra Khosravi, Maria Popp, +12 more
147citations -
The LOVD3 platform: efficient genome-wide sharing of genetic variants2021 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ivo F.A.C. Fokkema, Mark Kroon, J. Hernandez, Daan Asscheman, Ivar Lugtenburg, Jerry Hoogenboom, +1 more
157citations -
The Galician MultiPic: a picture dataset that captures lexical variation2025 Frontiers in Psychology article Psychology Categorization, perception, and language Open access
María Álvarez de la Granja, M. Carmen Parafita Couto, Ana Rita Sá-Leite, Isabel Fraga, Jon Andoni Duñabeitia, Christos Pliatsikas, +1 more
1citations -
Genetic Patterns in Familial Thoracic Aortic Aneurysm Disease2026 Genes article Biochemistry, Genetics and Molecular Biology Connective tissue disorders research Open access
Lisa C. Harling, Mohammad A. Zafar, Mah I Kan Changez, Dimitra Papanikolaou, Nafiye Busra Celik, Nimrat Grewal, +1 more
0citations