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Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Gui, Hongsheng; Schriemer, Duco; Cheng, William W; Chauhan, Rajendra K; Antinolo, Guillermo; Berrios, Courtney; Bleda, Marta; Brooks, Alice S; Brouwer, Rutger W W; Burns, Alan J; Cherny, Stacey S; Dopazo, Joaquin; Eggen, Bart J L; Griseri, Paola; Jalloh, Binta; Le, Thuy-Linh; Lui, Vincent C H; Luzón-Toro, Berta; Matera, Ivana; Ngan, Elly S W; Pelet, Anna; Ruiz-Ferrer, Macarena; Sham, Pak C; Shepherd, Iain T; So, Man-Ting; Sribudiani, Yunia; Tang, Clara S M; van den Hout, Mirjam C G N; van der Linde, Herma C; van Ham, Tjakko J; van IJcken, Wilfred F J; Verheij, Joke B G M; Amiel, Jeanne; Borrego, Salud; Ceccherini, Isabella; Chakravarti, Aravinda; Lyonnet, Stanislas; Tam, Paul K H; Garcia-Barceló, Maria-Mercè; Hofstra, Robert M W.
Affiliation
  • Gui H; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Schriemer D; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Cheng WW; Department of Neuroscience, section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Chauhan RK; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Antinolo G; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.
  • Berrios C; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.
  • Bleda M; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
  • Brooks AS; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
  • Brouwer RW; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA.
  • Burns AJ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
  • Cherny SS; Department of Medicine, School of Clinical Medicine, University of Cambridge, Addenbrooke's Hospital, Cambridge, UK.
  • Dopazo J; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.
  • Eggen BJ; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Griseri P; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.
  • Jalloh B; Stem Cells and Regenerative Medicine, Birth Defects Research Centre, UCL Institute of Child Health, London, UK.
  • Le TL; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Lui VC; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
  • Luzón-Toro B; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
  • Matera I; Department of Neuroscience, section Medical Physiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Ngan ES; UOC Genetica Medica, Istituto Gaslini, Genoa, Italy.
  • Pelet A; Department of Biology, Emory University, Atlanta, USA.
  • Ruiz-Ferrer M; Laboratory of embryology and genetics of human malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Sham PC; Department of Genetics, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades (APHP), Paris, France.
  • Shepherd IT; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • So MT; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
  • Sribudiani Y; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
  • Tang CS; UOC Genetica Medica, Istituto Gaslini, Genoa, Italy.
  • van den Hout MC; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • van der Linde HC; Laboratory of embryology and genetics of human malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • van Ham TJ; Department of Genetics, Paris Descartes-Sorbonne Paris Cité University, Hôpital Necker-Enfants Malades (APHP), Paris, France.
  • van IJcken WF; Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
  • Verheij JB; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain.
  • Amiel J; Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Borrego S; Department of Biology, Emory University, Atlanta, USA.
  • Ceccherini I; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Chakravarti A; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.
  • Lyonnet S; Department of Biochemistry and Molecular Biology, Faculty of Medicine, Universitas Padjadjaran, Bandung, Indonesia.
  • Tam PK; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, SAR, China.
  • Garcia-Barceló MM; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Hofstra RM; Department of Clinical Genetics, Erasmus University Medical Center, PO Box 2040, 3000CA, Rotterdam, The Netherlands.
Genome Biol ; 18(1): 48, 2017 03 08.
Article de En | MEDLINE | ID: mdl-28274275
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Prédisposition génétique à une maladie / Étude d'association pangénomique / Séquençage nucléotidique à haut débit / Exome / Maladie de Hirschsprung Type d'étude: Observational_studies / Prognostic_studies / Risk_factors_studies Limites: Animals / Humans Langue: En Journal: Genome Biol Sujet du journal: BIOLOGIA MOLECULAR / GENETICA Année: 2017 Type de document: Article Pays d'affiliation: Chine
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Prédisposition génétique à une maladie / Étude d'association pangénomique / Séquençage nucléotidique à haut débit / Exome / Maladie de Hirschsprung Type d'étude: Observational_studies / Prognostic_studies / Risk_factors_studies Limites: Animals / Humans Langue: En Journal: Genome Biol Sujet du journal: BIOLOGIA MOLECULAR / GENETICA Année: 2017 Type de document: Article Pays d'affiliation: Chine