Splicing mutations in inherited retinal diseases-Reference-Cited by-同舟云学术

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Splicing mutations in inherited retinal diseases

Published:2021-01 Issue: Volume:80 Page:100874
ISSN:1350-9462
Container-title:Progress in Retinal and Eye Research
language:en
Short-container-title:Progress in Retinal and Eye Research

Author:

Weisschuh Nicole,Buena-Atienza Elena,Wissinger Bernd

Funder

Bundesministerium für Bildung und Forschung

European Commission

Deutsche Forschungsgemeinschaft

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference216 articles.

1. Splicing mutations in human genetic disorders: examples, detection, and confirmation;Abramowicz;J. Appl. Genet.,2018

2. Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency;Adamson;Genome Biol.,2018

3. Identification and rescue of splice defects caused by two neighboring deep-intronic ABCA4 mutations underlying Stargardt disease;Albert;Am. J. Hum. Genet.,2018

4. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology;Alter;Nat. Med. 12,2006

5. Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells;Aparisi;PloS One,2013

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1. Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes;International Journal of Molecular Sciences;2024-09-03

2. Chloroplast genome sequencing in winged bean (Psophocarpus tetragonolobus L.) and comparative analysis with other legumes;2024-07-19

3. Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy;Genetics in Medicine;2024-06

4. Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and Maturation;2024-05-24

5. Splicing defects and CRISPR-Cas9 correction in isogenic homozygous photoreceptor precursors harboring clustered deep-intronic ABCA4 variants;Molecular Therapy - Nucleic Acids;2024-03

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