Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 117, Issue 5, Pages 2710-2716
Publisher
Proceedings of the National Academy of Sciences
Online
2020-01-22
DOI
10.1073/pnas.1913179117
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Application of ACMG criteria to classify variants in the human gene mutation database
- (2019) Hui-Qi Qu et al. JOURNAL OF HUMAN GENETICS
- Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population
- (2018) Mor Hanany et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Plant Mitochondrial Inner Membrane Protein Insertion
- (2018) Renuka Kolli et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Predicting the clinical impact of human mutation with deep neural networks
- (2018) Laksshman Sundaram et al. NATURE GENETICS
- Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa
- (2018) Hui Huang et al. PLoS One
- CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION
- (2018) Frederick T. Collison et al. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES
- In SilicoFunctional Meta-Analysis of 5,962ABCA4Variants in 3,928 Retinal Dystrophy Cases
- (2017) Stéphanie S. Cornelis et al. HUMAN MUTATION
- Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
- (2017) Jana Zernant et al. JOURNAL OF MEDICAL GENETICS
- Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease
- (2017) Edwin M. Stone et al. OPHTHALMOLOGY
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
- (2015) Avigail Beryozkin et al. Scientific Reports
- Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results
- (2014) Holly K. Tabor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Outcome of ABCA4 Disease-Associated Alleles in Autosomal Recessive Retinal Dystrophies
- (2013) Rosa Riveiro-Alvarez et al. OPHTHALMOLOGY
- Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population
- (2012) Koji M. Nishiguchi et al. PLoS One
- Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
- (2010) Anneke I. den Hollander et al. JOURNAL OF CLINICAL INVESTIGATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search