Related references
Note: Only part of the references are listed.Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness
Keiko Miyadera et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2022)
Next-Generation Sequencing Applications for Inherited Retinal Diseases
Adrian Dockery et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases
Panfeng Wang et al.
TRANSLATIONAL VISION SCIENCE & TECHNOLOGY (2019)
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
Kristof Van Schil et al.
GENETICS IN MEDICINE (2018)
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases
Jamie M. Ellingford et al.
JOURNAL OF MEDICAL GENETICS (2018)
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
Likun Wang et al.
GENES (2018)
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Sarah S. Kalia et al.
GENETICS IN MEDICINE (2017)
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
Lonneke Haer-Wigman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial
Stephen Russell et al.
LANCET (2017)
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
Edwin M. Stone et al.
OPHTHALMOLOGY (2017)
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Keren J. Carss et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2017)
Molecular findings from 537 individuals with inherited retinal disease
Jamie M. Ellingford et al.
JOURNAL OF MEDICAL GENETICS (2016)
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations
Matthew Carrigan et al.
SCIENTIFIC REPORTS (2016)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing
Xiu-Feng Huang et al.
GENETICS IN MEDICINE (2015)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al.
GENETICS IN MEDICINE (2013)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yaping Yang et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population
J. B. Ruddle et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2009)
Share Paper
