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Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
Pierrache, Laurence H M; Kimchi, Adva; Ratnapriya, Rinki; Roberts, Lisa; Astuti, Galuh D N; Obolensky, Alexey; Beryozkin, Avigail; Tjon-Fo-Sang, Martha J H; Schuil, Jose; Klaver, Caroline C W; Bongers, Ernie M H F; Haer-Wigman, Lonneke; Schalij, Nicoline; Breuning, Martijn H; Fischer, Gratia M; Banin, Eyal; Ramesar, Raj S; Swaroop, Anand; van den Born, L Ingeborgh; Sharon, Dror; Cremers, Frans P M.
Affiliation
  • Pierrache LHM; The Rotterdam Eye Hospital, Rotterdam, The Netherlands; Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
  • Kimchi A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Ratnapriya R; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • Roberts L; UCT/MRC Human Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro Univer
  • Obolensky A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Beryozkin A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Tjon-Fo-Sang MJH; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
  • Schuil J; Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands.
  • Klaver CCW; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Bongers EMHF; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Schalij N; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
  • Breuning MH; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Fischer GM; Department of Ophthalmology, Dr. George Mukhari Academic Hospital, Sefako Makgatho Health Sciences University (SMU), Ga-Rankuwa, Pretoria, South Africa.
  • Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Ramesar RS; UCT/MRC Human Genetics Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
  • Swaroop A; Neurobiology-Neurodegeneration & Repair Laboratory, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
  • van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands; Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands.
  • Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands. Electronic address: Frans.Cremers@radboudumc.nl.
Ophthalmology ; 124(7): 992-1003, 2017 07.
Article in En | MEDLINE | ID: mdl-28412069
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA / Retinitis Pigmentosa / Coloboma / Eye Proteins / Genetic Association Studies / Macula Lutea / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Ophthalmology Year: 2017 Type: Article Affiliation country: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: DNA / Retinitis Pigmentosa / Coloboma / Eye Proteins / Genetic Association Studies / Macula Lutea / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Ophthalmology Year: 2017 Type: Article Affiliation country: Netherlands