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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 -
CNVizard – a lightweight streamlit application for an interactive analysis of copy number variants2024 bioRxiv (Cold Spring Harbor Laboratory) preprint 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
1citations -
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 -
Rare copy number variants (CNVs) and breast cancer risk2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet K. Bolla, +89 more
0citations -
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 -
Rare Copy Number Variants (CNVs) and Breast Cancer Risk2021 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Joe Dennis, Jonathan P. Tyrer, Logan C. Walker, Kyriaki Michailidou, Leila Dorling, Manjeet Bola, +94 more
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 -
Allele-specific digital PCR enhances precision and sensitivity in the detection and quantification of copy number alterations in heterogeneous DNA samples: an in silico and in vitro validation study2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Rogier J. Nell, Mieke Versluis, Willem H. Zoutman, Gregorius P. M. Luyten, Martine Johanna Jager, Pieter A. van der Velden
5citations -
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 -
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 -
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