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High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul, Semra; Oktay, Yavuz; Töpf, Ana; Szabó, Nóra Zs; Güngör, Serdal; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Özgör, Bilge; Lochmüller, Angela; Nair, Ashwati; O'Heir, Emily; Lovgren, Alysia K; Maroofian, Reza; Houlden, Henry; Polavarapu, Kiran; Roos, Andreas; Müller, Juliane S; Hathazi, Denisa; Chinnery, Patrick F; Laurie, Steven; Beltran, Sergi; Lochmüller, Hanns; Horvath, Rita.
Afiliación
  • Hiz Kurul S; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.
  • Oktay Y; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.
  • Töpf A; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Szabó NZ; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.
  • Güngör S; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.
  • Yaramis A; Department of Medical Biology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Sonmezler E; John Walton Muscular Dystrophy Research Centre, Institute of Translational and Clinical Research, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Matalonga L; Epilepsy-Neurology Polyclinic of Buda Children's Hospital, New Saint John's Hospital and Northern -Buda United Hospitals, Budapest 1023, Hungary.
  • Yis U; Department of Paediatric Neurology, Faculty of Medicine, Turgut Ozal Research Center, Inonu University, Malatya 44210, Turkey.
  • Schon K; Pediatric Neurology Clinic, Diyarbakir 21070, Turkey.
  • Paramonov I; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.
  • Kalafatcilar IP; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona 08003, Spain.
  • Gao F; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Rieger A; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PY, UK.
  • Arslan N; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.
  • Yilmaz E; CNAG-CRG, Centre for Genomic Regulation, Barcelona Institute of Science and Technology, Barcelona 08003, Spain.
  • Ekinci B; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.
  • Edem PP; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Aslan M; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0PY, UK.
  • Özgör B; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.
  • Lochmüller A; Rehabilitation Centre for the Physically Handicapped, Budapest 1528, Hungary.
  • Nair A; Izmir Biomedicine and Genome Center, Dokuz Eylul University Health Campus, Izmir 35340, Turkey.
  • O'Heir E; Department of Paediatric Nutrition and Metabolism, School of Medicine, Dokuz Eylul University, Izmir 1528, Turkey.
  • Lovgren AK; Izmir International Biomedicine and Genome Institute, Dokuz Eylul University, Izmir 35340, Turkey.
  • Maroofian R; Department of Paediatric Neurology, School of Medicine, Dokuz Eylul University, Izmir 35340, Turkey.
  • Houlden H; Department of Paediatric Neurology, Faculty of Medicine, Turgut Ozal Research Center, Inonu University, Malatya 44210, Turkey.
  • Polavarapu K; Department of Paediatric Neurology, Faculty of Medicine, Turgut Ozal Research Center, Inonu University, Malatya 44210, Turkey.
  • Roos A; GKT School of Medical Education, King's College London, London SE1 1UL, UK.
  • Müller JS; GKT School of Medical Education, King's College London, London SE1 1UL, UK.
  • Hathazi D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA SE1 1UL, USA.
  • Chinnery PF; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA SE1 1UL, USA.
  • Beltran S; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.
  • Lochmüller H; Neurogenetics Laboratory, National Hospital for Neurology and Neurosurgery, University College London, London WC1N 3BG, UK.
  • Horvath R; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa ON K1H 8L1, Canada.
Brain ; 145(4): 1507-1518, 2022 05 24.
Article en En | MEDLINE | ID: mdl-34791078
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Exoma Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Turquía
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Exoma Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Brain Año: 2022 Tipo del documento: Article País de afiliación: Turquía