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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 -
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 -
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 -
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 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 -
Asymmetric inter-kingdom gene transfer and a horizontal transposon invasion in a powdery mildew fungus2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Chromosomal and Genetic Variations Open access
Lee Mariault, Éric Lasserre, Jiangzhao Qian, Ji-Hun Hwang, Kyung Do Kim, Anaïs Gibert, +3 more
0citations -
Spatiotemporal heterogeneity of glioblastoma is dictated by microenvironmental interference2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Medicine Glioma Diagnosis and Treatment Open access
Vidhya Madapusi Ravi, Paulina Will, Jan Kueckelhaus, Na Sun, Kevin Joseph, Henrike Salié, +20 more
12citations -
Optical Genome and Epigenome Mapping of Clear Cell Renal Cell Carcinoma2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Cancer Genomics and Diagnostics Open access
Sapir Margalit, Zuzana Tulpová, Yael Michaeli, Tahir Detinis Zur, Jasline Deek, Sivan Louzoun‐Zada, +10 more
6citations -
Gain of chromosome region 1q31.3 in human iPSCs confers growth advantage and alters contraction in derivative cardiomyocytes2023 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Pluripotent Stem Cells Research Open access
Karina O. Brandão, Viviana Meraviglia, Daniela C. F. Salvatori, Xu Cao, Luca Sala, Loukia Yiangou, +4 more
1citations -
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic and rare skin diseases. Open access
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Alan Hardman, Derek Pye, Antonio Torrelo, +25 more
0citations -
Modulating effects of FGF12 variants on Na V 1.2 and Na V 1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Ion channel regulation and function Open access
Simone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie T. van der Ven, +5 more
2citations -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Claudia Moreau, Frédérique Tremblay, Stefan Wolking, Alexandre Girard, Catherine Laprise, Fadi F. Hamdan, +4 more
0citations
17 results