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For: Weisschuh N, Buena-Atienza E, Wissinger B. Splicing mutations in inherited retinal diseases. Prog Retin Eye Res 2021;80:100874. [PMID: 32553897 DOI: 10.1016/j.preteyeres.2020.100874] [Cited by in Crossref: 11] [Cited by in F6Publishing: 13] [Article Influence: 5.5] [Reference Citation Analysis]
Number Citing Articles
1 Skryabin NA, Zhigalina DI, Stepanov VA. The Role of Splicing in the Pathogenesis of Monogenic Diseases. Russ J Genet 2022;58:1208-1215. [DOI: 10.1134/s1022795422100088] [Reference Citation Analysis]
2 Kataoka H, Akagawa H, Ushio Y, Sato M, Manabe S, Makabe S, Kawachi K, Akihisa T, Iwasa N, Yoshida R, Tsuchiya K, Nitta K, Mochizuki T. Mutation Type and Intracranial Aneurysm Formation in Autosomal Dominant Polycystic Kidney Disease. SVIN 2022;2. [DOI: 10.1161/svin.121.000203] [Reference Citation Analysis]
3 Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-Farrier C, FitzPatrick DR, Greally JM, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O'Donnell-Luria A, Ramsden SC, Rehm HL, Richardson E, Singer-Berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome Med 2022;14:73. [PMID: 35850704 DOI: 10.1186/s13073-022-01073-3] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
4 Tian L, Chen C, Song Y, Zhang X, Xu K, Xie Y, Jin ZB, Li Y. Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations. Invest Ophthalmol Vis Sci 2022;63:5. [PMID: 35657619 DOI: 10.1167/iovs.63.6.5] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
5 Ellingford JM, Ahn JW, Bagnall RD, Baralle D, Barton S, Campbell C, Downes K, Ellard S, Duff-farrier C, Fitzpatrick DR, Ingles J, Krishnan N, Lord J, Martin HC, Newman WG, O’donnell-luria A, Ramsden SC, Rehm HL, Richardson E, Singer-berk M, Taylor JC, Williams M, Wood JC, Wright CF, Harrison SM, Whiffin N. Recommendations for clinical interpretation of variants found in non-coding regions of the genome.. [DOI: 10.1101/2021.12.28.21267792] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases. NPJ Genom Med 2021;6:97. [PMID: 34795310 DOI: 10.1038/s41525-021-00261-1] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 7.0] [Reference Citation Analysis]
7 Rowlands C, Thomas HB, Lord J, Wai HA, Arno G, Beaman G, Sergouniotis P, Gomes-Silva B, Campbell C, Gossan N, Hardcastle C, Webb K, O'Callaghan C, Hirst RA, Ramsden S, Jones E, Clayton-Smith J, Webster AR, Douglas AGL, O'Keefe RT, Newman WG, Baralle D, Black GCM, Ellingford JM; Genomics England Research Consortium. Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders. Sci Rep 2021;11:20607. [PMID: 34663891 DOI: 10.1038/s41598-021-99747-2] [Cited by in Crossref: 13] [Cited by in F6Publishing: 15] [Article Influence: 13.0] [Reference Citation Analysis]
8 Lenassi E, Carvalho A, Thormann A, Fletcher T, Hardcastle C, Hunt SE, Sergouniotis PI, Michaelides M, Webster AR, Cunningham F, Ramsden S, Fitzpatrick DR, Black GC, Ellingford JM. EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.. [DOI: 10.1101/2021.07.23.21261017] [Reference Citation Analysis]
9 Mauro-Herrera M, Chiang J, Radojevic B, Bennett LD. Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases. Genes (Basel) 2021;12:993. [PMID: 34209753 DOI: 10.3390/genes12070993] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Truty R, Ouyang K, Rojahn S, Garcia S, Colavin A, Hamlington B, Freivogel M, Nussbaum RL, Nykamp K, Aradhya S. Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation. Am J Hum Genet 2021;108:696-708. [PMID: 33743207 DOI: 10.1016/j.ajhg.2021.03.006] [Cited by in Crossref: 21] [Cited by in F6Publishing: 16] [Article Influence: 21.0] [Reference Citation Analysis]
11 Tarilonte M, Ramos P, Moya J, Fernandez-Sanz G, Blanco-Kelly F, Swafiri ST, Villaverde C, Romero R, Tamayo A, Gener B, Calvas P, Ayuso C, Corton M. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. J Med Genet 2021:jmedgenet-2020-106932. [PMID: 33782094 DOI: 10.1136/jmedgenet-2020-106932] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
12 Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. Invest Ophthalmol Vis Sci 2020;61:36. [PMID: 32881472 DOI: 10.1167/iovs.61.10.36] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 14.0] [Reference Citation Analysis]
13 Mehrotra S, Bronstein R, Navarro-gomez D, Segrè AV, Pierce EA. Evaluating Methods for Differential Gene Expression And Alternative Splicing Using Internal Synthetic Controls.. [DOI: 10.1101/2020.08.05.238295] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]