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Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene, Daniel; Pirri, Daniela; Frudd, Karen; Sackey, Ege; Al-Owain, Mohammed; Giese, Arnaud P J; Ramzan, Khushnooda; Riaz, Sehar; Yamanaka, Itaru; Boeckx, Nele; Thys, Chantal; Gelb, Bruce D; Brennan, Paul; Hartill, Verity; Harvengt, Julie; Kosho, Tomoki; Mansour, Sahar; Masuno, Mitsuo; Ohata, Takako; Stewart, Helen; Taibah, Khalid; Turner, Claire L S; Imtiaz, Faiqa; Riazuddin, Saima; Morisaki, Takayuki; Ostergaard, Pia; Loeys, Bart L; Morisaki, Hiroko; Ahmed, Zubair M; Birdsey, Graeme M; Freson, Kathleen; Mumford, Andrew; Turro, Ernest.
  • Greene D; Department of Medicine, University of Cambridge, Cambridge, UK.
  • Frudd K; National Heart and Lung Institute, Imperial College London, London, UK.
  • Sackey E; National Heart and Lung Institute, Imperial College London, London, UK.
  • Al-Owain M; University College London Institute of Ophthalmology, University College London, London, UK.
  • Giese APJ; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.
  • Ramzan K; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Riaz S; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
  • Yamanaka I; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Boeckx N; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
  • Thys C; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA.
  • Gelb BD; Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan.
  • Brennan P; Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium.
  • Hartill V; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.
  • Harvengt J; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Kosho T; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Mansour S; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Masuno M; Northern Genetics Service, Newcastle upon Tyne Hospitals National Health Service Trust International Centre for Life, Newcastle upon Tyne, UK.
  • Ohata T; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals National Health Service Trust, Leeds, UK.
  • Stewart H; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Taibah K; Centre for Medical Genetics, Centre Hospitalier Universitaire de Liège, Liège, Belgium.
  • Turner CLS; Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan.
  • Imtiaz F; Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan.
  • Riazuddin S; Molecular and Clinical Sciences Institute, St. George's University of London, London, UK.
  • Morisaki T; South West Thames Regional Genetics Service, St. George's University Hospitals National Health Service Foundation Trust, London, UK.
  • Ostergaard P; Department of Medical Genetics, Kawasaki Medical School Hospital, Okayama, Japan.
  • Loeys BL; Okinawa Chubu Hospital, Okinawa, Japan.
  • Morisaki H; Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK.
  • Ahmed ZM; Ear Nose and Throat Medical Centre, Riyadh, Saudi Arabia.
  • Birdsey GM; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital, Exeter, UK.
  • Freson K; Department of Clinical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
  • Mumford A; Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA.
  • Turro E; Department of Biochemistry and Molecular Biology, School of Medicine, University of Maryland, Baltimore, MD, USA.
Nat Med ; 29(3): 679-688, 2023 03.
Article en En | MEDLINE | ID: mdl-36928819
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Raras / Estudio de Asociación del Genoma Completo Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enfermedades Raras / Estudio de Asociación del Genoma Completo Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article