Related references
Note: Only part of the references are listed.Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
Stephanie S. Cornelis et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2022)
Graphical abstract
Winston Lee et al.
JCI INSIGHT (2022)
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases
Rebekkah J. Hitti-Malin et al.
HUMAN MUTATION (2022)
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Graeme C. Black et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story
Saoud Al-Khuzaei et al.
GENES (2021)
Ensembl 2020
Andrew D. Yates et al.
NUCLEIC ACIDS RESEARCH (2020)
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan et al.
GENETICS IN MEDICINE (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)
The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy
Sanne K. Verbakel et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2019)
Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease
Mubeen Khan et al.
HUMAN MUTATION (2019)
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4
Zeinab Fadaie et al.
HUMAN MUTATION (2019)
Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan et al.
CELL (2019)
The UCSC Genome Browser database: 2019 update
Maximilian Haeussler et al.
NUCLEIC ACIDS RESEARCH (2019)
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
Riccardo Sangermano et al.
GENOME RESEARCH (2018)
Non-syndromic retinitis pigmentosa
Sanne K. Verbakel et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2018)
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa
Suzanne E. de Bruijn et al.
JOURNAL OF MEDICAL GENETICS (2018)
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
Nicole Weisschuh et al.
PLOS ONE (2018)
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)
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)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
Leen Abu-Safieh et al.
GENOME RESEARCH (2013)
Usher Syndrome Type 2 Caused by Activation of an USH2A Pseudoexon: Implications for Diagnosis and Therapy
Christel Vache et al.
HUMAN MUTATION (2012)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
A Single-Base Substitution within an Intronic Repetitive Element Causes Dominant Retinitis Pigmentosa with Reduced Penetrance
Thomas Rio Frio et al.
HUMAN MUTATION (2009)
Leber congenital amaurosis: Genes, proteins and disease mechanisms
Anneke I. den Hollander et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
Anneke I. den Hollander et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
The UCSC Table Browser data retrieval tool
D Karolchik et al.
NUCLEIC ACIDS RESEARCH (2004)
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
G Yeo et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2004)
ESEfinder: a web resource to identify exonic splicing enhancers
L Cartegni et al.
NUCLEIC ACIDS RESEARCH (2003)
GeneSplicer: a new computational method for splice site prediction
M Pertea et al.
NUCLEIC ACIDS RESEARCH (2001)
Share Paper
