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Breakpoint characterization of a rare alpha0‐thalassemia deletion using targeted locus amplification on genomic DNA2021 International Journal of Laboratory Hematology article Medicine Hemoglobinopathies and Related Disorders Open access
Quint P. Hottentot, Emile de Meijer, Henk P.J. Buermans, Stefan J. White, Cornelis L. Harteveld
4citations -
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 -
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 -
Peer Review Report For: BioHackathon 2015: Semantics of data for life sciences and reproducible research [version 1; peer review: 2 approved]2020 University of Southampton peer-review Computer Science Research Data Management Practices Open access
Rutger Aldo Vos, Toshiaki Katayama, Hiroyuki Mishima, Shin Kawano, Shuichi Kawashima, Jin-Dong Kim, +68 more
0citations -
Peer Review Report For: Facilitating accessible, rapid, and appropriate processing of ancient metagenomic data with AMDirT [version 2; peer review: 1 approved, 3 approved with reservations]
Maxime Borry, Adrian Forsythe, Aida Andrades Valtueña, Alexander Hübner, Anan Ibrahim, Andrea Quagliariello, +34 more
0citations -
Peer Review Report For: Facilitating accessible, rapid, and appropriate processing of ancient metagenomic data with AMDirT [version 2; peer review: 1 approved, 3 approved with reservations]
Maxime Borry, Adrian Forsythe, Aida Andrades Valtueña, Alexander Hübner, Anan Ibrahim, Andrea Quagliariello, +34 more
0citations -
Genomic investigations in animal enteric disease-associated Clostridium perfringens2025 Microbial Genomics article Medicine Clostridium difficile and Clostridium perfringens research Open access
Jan Franzen, Martin F. Larralde, Ana Cristina Campal Espinosa, Sonja Kittl, Simon Feyer, Isabelle Brodard, +9 more
2citations -
Understanding functional consequences of type 2 diabetes risk loci using the universal data integration and visualization R package CONQUER2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Gerard A. Bouland, Joline W. J. Beulens, Joey Nap, Arno R. van der Slik, Arnaud Zaldumbide, Leen M. ‘t Hart, +1 more
1citations -
Clostridioides difficile recovered from hospital patients, livestock and dogs in Nigeria share near-identical genome sequences2025 Microbial Genomics article Medicine Clostridium difficile and Clostridium perfringens research Open access
Emmanuel Ochefije Ngbede, Vera Junker, Baban S. Kolte, Martinique Frentrup, Judith Boldt, Warren N. Fawley, +4 more
2citations -
WALDO: community-Wide Annotation of γδ Lymphocytes in single-cell Data, Openly benchmarked2026 Zenodo (CERN European Organization for Nuclear Research) preprint Biochemistry, Genetics and Molecular Biology Single-cell and spatial transcriptomics Open access
Farid Keramati, Moosa Rezwani, Likai Tan, David Hamilton, Zheng Song, Tao Yang, +10 more
0citations -
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research2020 F1000Research article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
David Salgado, Irina M. Armean, Michael Baudis, Sergi Beltrán, Salvador Capella-Gutiérrez, Denise Carvalho‐Silva, +34 more
7citations -
Abstract PS1-12-19: Disease natural history and care quality assessment of hormone receptor positive / human epidermal growth factor receptor 2 negative metastatic breast cancer (HR+/HER2- mBC) - an international multicentric study2026 Clinical Cancer Research conference-abstract Biochemistry, Genetics and Molecular Biology Breast Cancer Treatment Studies
Stelios Theophanous, L. Revie, O. Bouissou, François P. Duhoux, Prabash Galgane Banduge, Ananya Choudhury, +18 more
0citations -
Multicenter Comparison of Molecular Tumor Boards in The Netherlands: Definition, Composition, Methods, and Targeted Therapy Recommendations2020 The Oncologist article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Bart Koopman, Harry J.M. Groen, Marjolijn J. L. Ligtenberg, Katrien Grünberg, Kim Monkhorst, Adrianus Johannes de Langen, +25 more
51citations -
Conceptual design blueprint for the DiSSCo digitization infrastructure - DELIVERABLE D8.12020 Research Ideas and Outcomes article Computer Science Research Data Management Practices Open access
Alex Hardisty, Hannu Saarenmaa, Ana Casino, Mathias Dillen, Karsten Gödderz, Quentin Groom, +8 more
35citations -
Biodiversity Genomics Europe plus (BGE+) Project – Abridged Grant Proposal2026 Research Ideas and Outcomes article Environmental Science Environmental DNA in Biodiversity Studies Open access
Dimitrios Koureas, Eva Alonso, Pedro Rui Beja, Astrid Böhne, Sarah J. Bourlat, Elena Bužan, +53 more
0citations -
AncientMetagenomeDir dating metadataset highlights need for standardised radiocarbon reporting in ancient DNA2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Earth and Planetary Sciences Archaeology and ancient environmental studies Open access
Katherine Hearne, Diāna Spurīte, Alexander Hübner, Biancamaria Bonucci, Yuejiao Huang, Bjørn Peare Bartholdy, +38 more
0citations -
Genome-wide association study of treatment resistant depression highlights shared biology with metabolic traits2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Jooeun Kang, Victor Manuel Castro, Michael A. Ripperger, Sanan Venkatesh, David Burstein, Richard Karlsson Linnér, +16 more
3citations -
A Browser-Based Curation Tool for Expert Review of DNA Barcode Records from BOLD Systems2026 Research Ideas and Outcomes article Environmental Science Environmental DNA in Biodiversity Studies Open access
Stephan Kühbandner, Fabian Deister, Axel Hausmann, Michael J. Raupach, Benjamin Wills Price, Torbjørn Ekrem, +8 more
0citations