Related references
Note: Only part of the references are listed.Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
Daan M. Panneman et al.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2023)
Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
Talya Millo et al.
GENETICS IN MEDICINE (2022)
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Hedwig M. Velde et al.
HUMAN GENETICS (2022)
Generation and characterization of human induced pluripotent stem cells (iPSCs) from three patients with age-related macular degeneration carrying rare variants in the CFH gene
Louet Koolen et al.
STEM CELL RESEARCH (2022)
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments
Jesse Farek et al.
GIGASCIENCE (2022)
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
Janine Reurink et al.
NPJ GENOMIC MEDICINE (2022)
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Luke Mansard et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie Rowlands et al.
SCIENTIFIC REPORTS (2021)
Benchmarking deep learning splice prediction tools using functional splice assays
Tabea V. Riepe et al.
HUMAN MUTATION (2021)
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Zeinab Fadaie et al.
NPJ GENOMIC MEDICINE (2021)
Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations
Kalyan Dulla et al.
MOLECULAR THERAPY (2021)
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Janine Reurink et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
Mor Hanany et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2020)
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Suzanne E. de Bruijn et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
USH2A-retinopathy: From genetics to therapeutics
Lyes Toualbi et al.
EXPERIMENTAL EYE RESEARCH (2020)
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark J. P. Chaisson et al.
NATURE COMMUNICATIONS (2019)
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease
Alejandro Garanto et al.
GENES (2019)
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease
J. Kim et al.
NEW ENGLAND JOURNAL OF MEDICINE (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (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)
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
Silvia Albert et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
Ahmad N. Abou Tayoun et al.
HUMAN MUTATION (2018)
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients
D. Baux et al.
SCIENTIFIC REPORTS (2017)
USH2A Gene Editing Using the CRISPR System
Carla Fuster-Garcia et al.
MOLECULAR THERAPY-NUCLEIC ACIDS (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)
Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications
Xiaoyu Chen et al.
BIOINFORMATICS (2016)
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
Alessandro Liquori et al.
HUMAN MUTATION (2016)
Lessons from non-canonical splicing
Christopher R. Sibley et al.
NATURE REVIEWS GENETICS (2016)
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease
Jamie M. Ellingford et al.
OPHTHALMOLOGY (2016)
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T → C Mutation in Stargardt Disease
Riccardo Sangermano et al.
OPHTHALMOLOGY (2016)
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
Eva Lenassi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
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)
Control-FREEC: a tool for assessing copy number and allelic content using next-generation sequencing data
Valentina Boeva et al.
BIOINFORMATICS (2012)
Usher Syndrome Type 2 Caused by Activation of an USH2A Pseudoexon: Implications for Diagnosis and Therapy
Christel Vache et al.
HUMAN MUTATION (2012)
Ex Vivo Splicing Assays of Mutations at Noncanonical Positions of Splice Sites in USHER Genes
Sandie Le Gueard-Mereuze et al.
HUMAN MUTATION (2010)
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
Inga Ebermann et al.
JOURNAL OF CLINICAL INVESTIGATION (2010)
Share Paper
