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Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Melo, Uirá Souto; Schöpflin, Robert; Acuna-Hidalgo, Rocio; Mensah, Martin Atta; Fischer-Zirnsak, Björn; Holtgrewe, Manuel; Klever, Marius-Konstantin; Türkmen, Seval; Heinrich, Verena; Pluym, Ilina Datkhaeva; Matoso, Eunice; Bernardo de Sousa, Sérgio; Louro, Pedro; Hülsemann, Wiebke; Cohen, Monika; Dufke, Andreas; Latos-Bielenska, Anna; Vingron, Martin; Kalscheuer, Vera; Quintero-Rivera, Fabiola; Spielmann, Malte; Mundlos, Stefan.
Affiliation
  • Melo US; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Schöpflin R; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Acuna-Hidalgo R; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Mensah MA; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Fischer-Zirnsak B; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Holtgrewe M; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany; Berlin Institute of Health (BIH), Core Unit Bioinformatics, 10117 Berlin, Germany.
  • Klever MK; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Türkmen S; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.
  • Heinrich V; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 13353 Berlin, Germany.
  • Pluym ID; Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
  • Matoso E; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal; Center of Investigation on Environment Genetics and Oncobiology (iCBR-CIMAGO), Faculty of Medicine, University of Coimbra, 3000-548 Coimbra, Portugal.
  • Bernardo de Sousa S; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal.
  • Louro P; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-075 Coimbra, Portugal; Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil, 1099-023 Lisboa, Portugal; Faculty of Health Sciences, Universidade da Beira Interior, 6201-001 Covilhã, Portugal.
  • Hülsemann W; Handchirurgie Kinderkrankenhaus Wilhelmstift, 22149 Hamburg, Germany.
  • Cohen M; kbo-Kinderzentrum München, 81377 München, Germany.
  • Dufke A; Institut für Medizinische Genetik und Angewandte Genomik, 72076 Tübingen, Germany.
  • Latos-Bielenska A; Department of Medical Genetics, University of Medical Sciences in Poznan, 60-806 Poznan, Poland; Centers for Medical Genetics GENESIS, Grudzieniec st, 60-601 Poznan, Poland.
  • Vingron M; Max Planck Institute for Molecular Genetics, Department of Computational Molecular Biology, 13353 Berlin, Germany.
  • Kalscheuer V; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany.
  • Quintero-Rivera F; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
  • Spielmann M; Max Planck Institute for Molecular Genetics, Human Molecular Genomics Group, 13353 Berlin, Germany; Institut für Humangenetik Lübeck, Universität zu Lübeck, 23538 Lübeck, Germany. Electronic address: spielman@molgen.mpg.de.
  • Mundlos S; Max Planck Institute for Molecular Genetics, RG Development and Disease, 13353 Berlin, Germany; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany. Electronic address: mundlos@molgen.mpg.de.
Am J Hum Genet ; 106(6): 872-884, 2020 06 04.
Article in En | MEDLINE | ID: mdl-32470376
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Genome, Human / Developmental Disabilities / Chromosomes, Human / Molecular Conformation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2020 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Genome, Human / Developmental Disabilities / Chromosomes, Human / Molecular Conformation Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Humans Language: En Journal: Am J Hum Genet Year: 2020 Document type: Article Affiliation country: Country of publication: