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  • Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

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Genotype-phenotype correlations
Original article
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
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Authors

  • Xia Wang Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Hui Wang Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Vincent Sun McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Han-Fang Tuan Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Vafa Keser McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Keqing Wang Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Huanan Ren McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Irma Lopez McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Jacques E Zaneveld Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Sorath Siddiqui McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Stephanie Bowles Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Ayesha Khan McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Jason Salvo Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Structural and Computational Biology & Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Samuel G Jacobson Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Alessandro Iannaccone Hamilton Eye Institute, University of Tennessee Health Science Center, Memphis, Tennessee, USA PubMed articlesGoogle scholar articles
  • Feng Wang Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • David Birch Retina Foundation of the Southwest and Department of Ophthalmology, University of Texas Southwestern Medical School, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • John R Heckenlively Department of Ophthalmology and Visual Sciences Center for Retinal and Macular Degeneration, University of Michigan, Ann Arbor, Michigan, USA PubMed articlesGoogle scholar articles
  • Gerald A Fishman The Chicago Lighthouse for the Blind and Visually Impaired, Chicago, Illinois, USA PubMed articlesGoogle scholar articles
  • Elias I Traboulsi Ophthalmology, Cleveland Clinic, Cleveland, Ohio, USA PubMed articlesGoogle scholar articles
  • Yumei Li Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Dianna Wheaton Retina Foundation of the Southwest and Department of Ophthalmology, University of Texas Southwestern Medical School, Dallas, Texas, USA PubMed articlesGoogle scholar articles
  • Robert K Koenekoop McGill Ocular Genetics Laboratory (MOGL), Departments of Paediatric Surgery, Human Genetics and Ophthalmology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada PubMed articlesGoogle scholar articles
  • Rui Chen Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA Structural and Computational Biology & Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas, USA Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Rui Chen, Human Genome Sequencing Center, One Baylor Plaza, Houston, Texas, US, 77054, ruichen@bcm.edu Dr Robert K Koenekoop, McGill Ocular Genetics Laboratory,Montreal Children's Hospital, McGill University Health Centre, 2300 Tupper, Montreal, Quebec H3H 1P3 Canada, robkoenekoop@hotmail.com
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Citation

Wang X, Wang H, Sun V, et al
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
Journal of Medical Genetics 2013;50:674-688.

Publication history

  • Received January 28, 2013
  • Revised May 20, 2013
  • Accepted June 13, 2013
  • First published July 11, 2013.
Online issue publication 
November 22, 2018

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