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Optical genome mapping enables constitutional chromosomal aberration detection.
Mantere, Tuomo; Neveling, Kornelia; Pebrel-Richard, Céline; Benoist, Marion; van der Zande, Guillaume; Kater-Baats, Ellen; Baatout, Imane; van Beek, Ronald; Yammine, Tony; Oorsprong, Michiel; Hsoumi, Faten; Olde-Weghuis, Daniel; Majdali, Wed; Vermeulen, Susan; Pauper, Marc; Lebbar, Aziza; Stevens-Kroef, Marian; Sanlaville, Damien; Dupont, Jean Michel; Smeets, Dominique; Hoischen, Alexander; Schluth-Bolard, Caroline; El Khattabi, Laïla.
Afiliación
  • Mantere T; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Radboud Institute of Medical Life Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Resea
  • Neveling K; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Radboud Institute of Health Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Pebrel-Richard C; Department of Chromosomal and Molecular Genetics, University Hospital of Clermont-Ferrand, 63003 Clermont-Ferrand, France.
  • Benoist M; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
  • van der Zande G; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Kater-Baats E; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Baatout I; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
  • van Beek R; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Yammine T; Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France; Unit of Medical Genetics, Saint-Joseph University, 1107 2180 Beyrouth, Lebanon.
  • Oorsprong M; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Hsoumi F; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
  • Olde-Weghuis D; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Majdali W; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
  • Vermeulen S; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Pauper M; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Lebbar A; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France.
  • Stevens-Kroef M; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Sanlaville D; Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France; Department of Genetics, Hospices Civils de Lyon, 69677 Bron, France.
  • Dupont JM; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France; Université de Paris, Cochin Institute U1016, INSERM, 75014 Paris, France.
  • Smeets D; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands.
  • Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Radboud Institute of Medical Life Sciences, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud Univ
  • Schluth-Bolard C; Institut Neuromyogène, CNRS UMR 5310, INSERM U1217, Lyon 1 University, 69008 Lyon, France; Department of Genetics, Hospices Civils de Lyon, 69677 Bron, France.
  • El Khattabi L; Department of Cytogenetics, APHP.centre - Université de Paris, Hôpital Cochin, 75014 Paris, France; Université de Paris, Cochin Institute U1016, INSERM, 75014 Paris, France. Electronic address: laila.el-khattabi@aphp.fr.
Am J Hum Genet ; 108(8): 1409-1422, 2021 08 05.
Article en En | MEDLINE | ID: mdl-34237280
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma Humano / Aberraciones Cromosómicas / Mapeo Cromosómico / Trastornos de los Cromosomas / Análisis Citogenético / Análisis por Micromatrices / Variaciones en el Número de Copia de ADN Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Genoma Humano / Aberraciones Cromosómicas / Mapeo Cromosómico / Trastornos de los Cromosomas / Análisis Citogenético / Análisis por Micromatrices / Variaciones en el Número de Copia de ADN Tipo de estudio: Clinical_trials / Diagnostic_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article