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Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh, +94 more
15citations -
Global diversity of soil-transmitted helminths reveals population-biased genetic variation that impacts diagnostic targets2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Immunology and Microbiology Parasites and Host Interactions Open access
Marina Papaiakovou, Andrea Waeschenbach, Olumide Ajibola, Sitara Swarna Rao Ajjampur, Roy Malcolm Anderson, Robin L. Bailey, +38 more
2citations -
Bringing onco-innovation to Europe’s healthcare systems: the unexploited potential of biomarker testing, real world evidence and the potential of Tumour Agnostics. The lesson from BRCA1/2 genetic testing2020 Preprints.org preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Denis Horgan, Gennaro Ciliberto, PierFranco Conte, Giuseppe Curigliano, Luis Miguel Seijo, Luis M. Montuenga, +40 more
1citations -
Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning Models2026 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Tanhim Islam, Martin Danner, Zain Ziad, Matthias Begemann, Danique Beijer, Annette Lischka, +21 more
0citations -
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Michelle van Slobbe, Arie van Haeringen, Lisenka E.L.M. Vissers, Emilia K. Bijlsma, Julie W. Rutten, Manon Suerink, +3 more
4citations -
Reassessing Human Genetic Diversity in T Cell Studies.2023 Research Square preprint Biochemistry, Genetics and Molecular Biology Race, Genetics, and Society Open access
Ferenc A. Scheeren, Roderick C. Slieker, Daniël O. Warmerdam, Maarten H. Vermeer, Remco van Doorn, Mirjam H.M. Heemskerk
0citations -
Lifestyle, Early-life, and Genetic Health Risk Factors Underlying the Brain Age Gap: A Mega-Analysis Across 3,934 Individuals from the ENIGMA MDD Consortium2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Laura K. M. Han, Yara Jo Toenders, Xueyi Shen, Yuri Milaneschi, Heather Clare Whalley, Philipp G. Saemann, +34 more
3citations -
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 -
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Soo Heon Kwak, Ryan B. Hernandez-Cancela, DANIEL A. DICORPO, David E. Condon, Jordi Merino, Peitao Wu, +60 more
1citations -
Metabolic Syndrome Parameters, Determinants, and Biomarkers in Adult Survivors of Childhood Cancer: Protocol for the Dutch Childhood Cancer Survivor Study on Metabolic Syndrome (Dutch LATER METS) (Preprint)
Vincent G. Pluimakers, Marta F. Fiocco, Jenneke E. van Atteveld, Monique G. G. Hobbelink, Dorine Bresters, Eline van Dulmen‐den Broeder, +12 more
0citations -
The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access
Julius O.B. Jacobsen, Michael Baudis, Gareth S Baynam, J. Beckmann, Sergi Beltrán, Tiffany J. Callahan, +41 more
14citations -
PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Alexander J.M. Dingemans, Sandra Jansen, Jeroen van Reeuwijk, Nicole de Leeuw, Rolph Pfundt, Janneke H. M. Schuurs-Hoeijmakers, +12 more
1citations -
Multimodal Data Integration Advances Longitudinal Prediction of the Naturalistic Course of Depression and Reveals a Multimodal Signature of Disease Chronicity2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Treatment of Major Depression Open access
Philippe C. Habets, Rajat Mani Thomas, Yuri Milaneschi, Rick Jansen, René Pool, Wouter J. Peyrot, +4 more
0citations