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Exploring copy number variants in deceased fetuses and neonates with abnormal vertebral patterns and cervical ribs2020 Birth Defects Research article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pauline C. Schut, Erwin Brosens, Tom J. M. Van Dooren, Frietson F Galis, Clara M. A. ten Broek, Inge M. M. Baijens, +6 more
6citations -
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 -
CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants2024 BMC Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jeremias Krause, Carlos Classen, Daniela Dey, Eva Lausberg, Luise Kessler, Thomas Eggermann, +3 more
6citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
1citations -
Significance of incidental copy number variants in the Duchenne muscular dystrophy gene2025 Neuromuscular Disorders article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Ieke B. Ginjaar, Marjolein Kriek, Mariëtte J.V. Hoffer, Renske Oegema, Ellen van Binsbergen, Karin E. M. Diderich, +7 more
1citations -
A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies2022 International Journal of Molecular Sciences article Medicine Hemoglobinopathies and Related Disorders Open access
Anna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, +2 more
7citations -
Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann
0citations -
Odontogenic Myxomas Harbor Recurrent Copy Number Alterations and a Distinct Methylation Signature2024 The American Journal of Surgical Pathology article Dentistry Oral and Maxillofacial Pathology Open access
Tony G. Kleijn, Baptiste Ameline, Willem Hans Schreuder, Wierd Kooistra, Jan Johannes Doff, Max J. H. Witjes, +15 more
10citations -
Global diversity of soil-transmitted helminths reveals population-biased genetic variation that impacts diagnostic targets2025 Nature Communications article 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
13citations -
The association and functional relevance of genetic variation in low‐to‐medium‐affinity Fc‐gamma receptors with clinical platelet transfusion refractoriness2020 Journal of Thrombosis and Haemostasis article Medicine Blood groups and transfusion Open access
Sietse Quirijn Nagelkerke, Leendert Porcelijn, Judy Geissler, Michael W.T. Tanck, Elly Huiskes, Robin van Bruggen, +3 more
7citations -
Unequally Abundant Chromosomes and Unusual Collections of Transferred Sequences Characterize Mitochondrial Genomes of Gastrodia (Orchidaceae), One of the Largest Mycoheterotrophic Plant Genera2025 Molecular Biology and Evolution article Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Hanchen Wang, Deyi Wang, Bingyi Shao, LI Zhang-hai, Mark W. Chase, Jianwu Li, +5 more
16citations -
HLA and KIR genetic association and NK cells in anti-NMDAR encephalitis2024 Frontiers in Immunology article Medicine Autoimmune Neurological Disorders and Treatments Open access
Vicente Peris Sempere, Guo Luo, Sergio Muñiz‐Castrillo, Anne‐Laurie Pinto, Géraldine Picard, Véronique Rogemond, +22 more
17citations -
Comprehensive Cytogenetic and Genomic Profiling of the Murine AML12 (Alpha Mouse Liver 12) Hepatocyte Cell Line2026 Cells article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Darine Y. Asar, Stefanie Kankel, Diandra T. Keller, Katja Hardt, Sarah K. Schröder, Eva Miriam Buhl, +2 more
3citations -
Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington’s disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics2023 Therapeutic Advances in Rare Disease article Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Stephanie Feleus, Maaike van der Lee, Jesse Joachim Swen, Raymund A.C. Roos, Susanne Tamara de Bot
2citations -
Identification of high‐dimensional omics‐derived predictors for tumor growth dynamics using machine learning and pharmacometric modeling2021 CPT Pharmacometrics & Systems Pharmacology article Mathematics Mathematical Biology Tumor Growth Open access
Laura B. Zwep, Kevin L. W. Duisters, Tingjie Guo, Jacqueline J. Meulman, Parth J. Upadhyay, J. G. Coen van Hasselt
5citations -
Characterization of ovarian tissue oocytes from transgender men reveals poor calcium release and embryo development, which might be overcome by spindle transfer
Antonia Christodoulaki, Honghong He, Arantxa Cardona Barberán, Chloë De Roo, Susana M. Chuva de Sousa Lopes, Machteld Baetens, +7 more
21citations -
Haplotype reconstruction for genetically complex regions with ambiguous genotype calls: Illustration by the KIR gene region2023 Genetic Epidemiology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Lars L. J. van der Burg, Liesbeth C. de Wreede, Henning Baldauf, Jürgen Sauter, Johannes Schetelig, Hein Putter, +1 more
4citations