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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie, Zeinab; Whelan, Laura; Ben-Yosef, Tamar; Dockery, Adrian; Corradi, Zelia; Gilissen, Christian; Haer-Wigman, Lonneke; Corominas, Jordi; Astuti, Galuh D N; de Rooij, Laura; van den Born, L Ingeborgh; Klaver, Caroline C W; Hoyng, Carel B; Wynne, Niamh; Duignan, Emma S; Kenna, Paul F; Cremers, Frans P M; Farrar, G Jane; Roosing, Susanne.
Affiliation
  • Fadaie Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Whelan L; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Ben-Yosef T; The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
  • Dockery A; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Corradi Z; The School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland.
  • Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haer-Wigman L; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Corominas J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Astuti GDN; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • de Rooij L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van den Born LI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Klaver CCW; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Hoyng CB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Wynne N; Division of Human Genetics, Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, Semarang, Indonesia.
  • Duignan ES; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Kenna PF; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • Cremers FPM; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Farrar GJ; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Roosing S; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
NPJ Genom Med ; 6(1): 97, 2021 Nov 18.
Article in En | MEDLINE | ID: mdl-34795310
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Etiology_studies Language: En Journal: NPJ Genom Med Year: 2021 Document type: Article Affiliation country: Países Bajos
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Etiology_studies Language: En Journal: NPJ Genom Med Year: 2021 Document type: Article Affiliation country: Países Bajos