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Genomic survey sequencing and complete mitochondrial genome of the elkhorn coral crab Domecia acanthophora (Desbonne in Desbonne & Schramm, 1867) (Decapoda: Brachyura: Domeciidae)2023 Journal of Crustacean Biology article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Henrique Bravo, Juan Antonio Baeza, Sancia E. T. van der Meij
4citations -
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)2021 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ana Gonçalves, Ana María Fortuna, Yavuz Ariyürek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, +4 more
12citations -
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant2021 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Elke de Boer, Burcu Yaldız, Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Steven Laurie, Wouter Steyaert, +67 more
3citations -
High-depth whole genome sequencing of premalignant breast lesions reveals rearrangement hotspots and personalized management opportunities2026 Nature Communications article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Lucia Chmelova, Helen R. Davies, Andrea Degasperi, Giuseppe Rinaldi, Leon J. Wils, Daniella Black, +44 more
0citations -
Genome-wide methylation profiling of cell-free DNA in maternal plasma using Methylated DNA Sequencing (MeD-seq)2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Marjolein M. van Vliet, Ruben Boers, Joachim Boers, Olivier J. M. Schäffers, Lotte E. van der Meeren, Régine P.M. Steegers‐Theunissen, +2 more
0citations -
Genome‐wide methylation profiling of maternal cell‐free DNA using methylated DNA sequencing ( MeD ‐seq) indicates a placental and immune‐cell signature2024 European Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Marjolein M. van Vliet, Ruben Boers, Joachim Boers, Olivier J. M. Schäffers, Lotte E. van der Meeren, Régine P.M. Steegers‐Theunissen, +2 more
8citations -
Whole genome sequencing of endometrial cancer identifies novel subgroups, drivers, and actionable alterations2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sebastian Meyer, Ben Kinnersley, Katarzyna Kedzierska, Ignacio Soriano, Eszter Lakatos, Claudia Arnedo-Pac, +26 more
0citations -
Whole genome sequencing and the application of a SNP panel reveal primary evolutionary lineages and genomic variation in the lion (Panthera leo)2022 BMC Genomics article Biochemistry, Genetics and Molecular Biology Genetic diversity and population structure Open access
Laura D. Bertola, Martijn Vermaat, Francis Lesilau, Mumbi Chege, Pricelia N. Tumenta, Etotépé A. Sogbohossou, +7 more
27citations -
Clinical epidemiology, genetic diversity, and drug susceptibility patterns by whole genome sequencing of Mycobacterium tuberculosis complex isolates in Gabon from 2012 to 2022
Bayodé Roméo Adégbitè, Viola Dreyer, J. A. C. AGBO, Rhett Chester Mevyann, Guy Rogue Arnault Ibinda Mfoumbi, Micheska Epola Dibamba Ndanga, +9 more
4citations -
Real-world clinical utility of tumor whole-genome sequencing in solid cancers2026 Nature Medicine article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Jeffrey van Putten, Petur Snaebjornsson, Linda J.W. Bosch, Roelof Koster, Paul Roepman, Joseph L. Usset, +10 more
15citations -
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers2021 Frontiers in Immunology article Immunology and Microbiology Immunodeficiency and Autoimmune Disorders Open access
Kim Elsink, Manon M. H. Huibers, Iris H.I.M. Hollink, Annet Simons, Evelien Zonneveld‐Huijssoon, Lars T. van der Veken, +17 more
41citations -
Contamination Pathways can Be Traced along the Poultry Processing Chain by Whole Genome Sequencing of Listeria innocua2020 Microorganisms article Biochemistry, Genetics and Molecular Biology Listeria monocytogenes in Food Safety Open access
Mayada Gwida, Stefanie Lüth, Maged R. El-Ashker, Amira Ibrahim Zakaria, Fatma A. El-Gohary, Mona Elsayed, +2 more
12citations -
Integrating Formalin-Fixed, Paraffin-Embedded–Derived Whole-Genome Sequencing into Routine Molecular Pathology: Validation and First Experiences in Metastatic Melanoma2025 RWTH Publications (RWTH Aachen) article Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Cassandra Litchfield, Ronny Nienhold, Andreas Wicki, Michael Schmid, Domingo Aguilera‐Garcia, Viktor H. Koelzer, +93 more
0citations -
Eye-Transcriptome and Genome-Wide Sequencing for Scolecophidia: Implications for Inferring the Visual System of the Ancestral Snake2021 Genome Biology and Evolution article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
David J. Gower, James F. Fleming, Davide Pisani, Freek J. Vonk, Harald M. I. Kerkkamp, Leo Peichl, +6 more
27citations -
Capturing breast cancers’ copy-number landscape in routine pathology: Exploiting low-resolution, genome-wide sequencing to identify HRD and beyond2025 British Journal of Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Claire J.H. Kramer, Lise M. van Wijk, Dina Ruano, S. Gelpke-Vermeulen, Karin van der Tuin, Nienke van der Stoep, +10 more
1citations -
Author Correction: Real-world clinical utility of tumor whole-genome sequencing in solid cancers2026 Nature Medicine erratum Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Jeffrey van Putten, Petur Snaebjornsson, Linda J.W. Bosch, Roelof Koster, Paul Roepman, Joseph L. Usset, +10 more
0citations -
Oxford Nanopore sequencing: new opportunities for plant genomics?2020 Journal of Experimental Botany article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Kathryn Dumschott, Maximilian Schmidt, Harmeet Singh Chawla, Rod J. Snowdon, Björn Usadel
83citations