Papers in Genomic variations and chromosomal abnormalities 43
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SVision: a deep learning approach to resolve complex structural variants2022 Nature Methods article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Jiadong Lin, Songbo Wang, Peter A. Audano, Deyu Meng, Jacob I. Flores, Walter A. Kosters, +5 more
119citations -
Robust detection of translocations in lymphoma FFPE samples using targeted locus capture-based sequencing2021 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Amin Allahyar, Mark Pieterse, Joost F. Swennenhuis, G. Tjitske Los-de Vries, Roos J. Leguit, Ruud W. J. Meijers, +22 more
44citations -
De novo and somatic structural variant discovery with SVision-pro2024 Nature Biotechnology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access cited by 1 patent
Songbo Wang, Jiadong Lin, Peng Jia, Tun Xu, Xiujuan Li, Y Liu, +4 more
30citations -
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 222023 European Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Sylvia A. Koza, Anne Claude Tabet, María Clara Bonaglia, Stephanie Andres, Britt‐Marie Anderlid, Emmelien Aten, +4 more
16citations -
Comparison and benchmark of structural variants detected from long read and long-read assembly2023 Briefings in Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Peng Jia, Songbo Wang, Walter A. Kosters, Kai Ye
15citations -
Cytogenomic Characterization of Murine Neuroblastoma Cell Line Neuro-2a and Its Two Derivatives Neuro-2a TR-Alpha and Neuro-2a TR-Beta2024 Cells article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Lioba Hergenhahn, Niklas Padutsch, Shaymaa S. Hussein Azawi, Ralf Weiskirchen, Thomas Liehr, Martina Rinčić
14citations -
ATR-16 syndrome: mechanisms linking monosomy to phenotype2020 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Christian Babbs, Jill M. Brown, Sharon W. Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, +7 more
10citations -
Mako: A Graph-Based Pattern Growth Approach to Detect Complex Structural Variants2021 Genomics Proteomics & Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Jiadong Lin, Xiaofei Yang, Walter A. Kosters, Tun Xu, Yanyan Jia, Songbo Wang, +44 more
9citations -
Deletion of 16q22.2q23.3 in a Boy with a Phenotype Reminiscent of Silver-Russell Syndrome2021 Molecular Syndromology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Anna Lengyel, Éva Pinti, Thomas Eggermann, György Fekete, Irén Haltrich
8citations -
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile2024 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Dmitrijs Rots, Kathleen Rooney, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Rolph Pfundt, +18 more
7citations -
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 -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy2022 Annals of Clinical and Translational Neurology article 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
6citations -
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 -
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy2024 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Pleuntje J. van der Sluijs, Sébastien Moutton, Alexander J.M. Dingemans, Denisa Weis, Michael A. Levy, Kym M. Boycott, +39 more
6citations -
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients2023 Clinical Dysmorphology article Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Rebecca L. Poole, Emilia K. Bijlsma, Gunnar Houge, Gabriela E. Jones, Violeta Mikštienė, Eglė Preikšaitienė, +1 more
5citations -
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 -
SVision: A deep learning approach to resolve complex structural variants2022 Research Square preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Kai Ye, Jiadong Lin, Songbo Wang, Peter A. Audano, Jacob I. Flores, Walter A. Kosters, +4 more
2citations -
1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans2021 preprint Biochemistry, Genetics and Molecular Biology Genomic variations and chromosomal abnormalities Open access
Ida Elken Sønderby, Dennis van der Meer, Clara A. Moreau, Tobias Kaufmann, G. Bragi Walters, Maria Ellegaard, +89 more
1citations -
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