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Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Wells, Constance F; Boursier, Guilaine; Yauy, Kevin; Ruiz-Pallares, Nathalie; Mechin, Déborah; Ruault, Valentin; Tharreau, Mylène; Blanchet, Patricia; Pinson, Lucile; Coubes, Christine; Fila, Marc; Baleine, Julien; Pidoux, Odile; Badr, Maliha; Milesi, Christophe; Cambonie, Gilles; Mesnage, Renaud; Dereure, Maëlle; Ardouin, Olivier; Guignard, Thomas; Geneviève, David; Barat-Houari, Mouna; Willems, Marjolaine.
Afiliação
  • Wells CF; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Boursier G; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Yauy K; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Ruiz-Pallares N; Institute of Advanced Biosciences, Centre de recherche UGA, Inserm U 1209, CNRS UMR 5309, Grenoble, France.
  • Mechin D; SeqOne Genomics, Montpellier, France.
  • Ruault V; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Tharreau M; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Blanchet P; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Pinson L; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Coubes C; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Fila M; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Baleine J; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
  • Pidoux O; Pediatric Nephrology department, Montpellier university hospital, Univ, Montpellier, France.
  • Badr M; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.
  • Milesi C; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.
  • Cambonie G; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.
  • Mesnage R; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.
  • Dereure M; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.
  • Ardouin O; Department of Neonatal Medicine and Pediatric Intensive Care, Montpellier university Hospital, Univ, Montpellier, France.
  • Guignard T; Clinical research and epidemiology department, Montpellier university hospital, Univ, Montpellier, France.
  • Geneviève D; Molecular medicine and genomics platform, Montpellier university hospital, Montpellier, France.
  • Barat-Houari M; Unit of Chromosomal Genetics and Research Plateform Chromostem, Montpellier university hospital, Univ, Montpellier, France.
  • Willems M; Department of Medical Genetics, Rare diseases and Personalized medicine, CHU Montpellier, Univ Montpellier, Montpellier, France.
Eur J Hum Genet ; 30(9): 1076-1082, 2022 09.
Article em En | MEDLINE | ID: mdl-35729264
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estado Terminal / Exoma Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Estado Terminal / Exoma Idioma: En Ano de publicação: 2022 Tipo de documento: Article