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PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease2021 preprint 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
7citations -
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 -
A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman, Anneke T. Vulto‐van Silfhout, Erica G. M. Boonen, Lara K. Holtes, +24 more
0citations -
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 -
Excuse me, there is a mutant in my bioactivity soup!A comprehensive analysis of the genetic variability landscape of bioactivity databases and its effect on activity modelling
Marina Gorostiola González, Olivier J. M. Béquignon, Emma J. Manners, Anna Gaulton, Prudence Mutowo, Elisabeth Dawson, +5 more
3citations -
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 -
Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity2020 Aging Cell article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access cited by 1 patent
Danielle Gutman, Gabriel Arie Lidzbarsky, Sofiya Milman, Tina Gao, Patrick Sin‐Chan, Claudia G. Gonzaga-Jauregui, +4 more
13citations -
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +49 more
3citations -
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, +48 more
1citations -
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants2020 Journal of Medical Genetics article Medicine Pancreatic and Hepatic Oncology Research Open access
Kasper A. Overbeek, Mar D M Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C. van den Akker, Jan C. Oosterwijk, +7 more
31citations