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For: 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: 7.0] [Reference Citation Analysis]
Number Citing Articles
1 Viering DHHM, Hureaux M, Neveling K, Latta F, Kwint M, Blanchard A, Konrad M, Bindels RJM, Schlingmann KP, Vargas-Poussou R, de Baaij JHF. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome. J Am Soc Nephrol 2023;34:333-45. [PMID: 36302598 DOI: 10.1681/ASN.2022050627] [Reference Citation Analysis]
2 Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies. Hum Mol Genet 2023;32:595-607. [PMID: 36084042 DOI: 10.1093/hmg/ddac227] [Reference Citation Analysis]
3 Rabie EA, Sayed ISM, Amr K, Ahmed HA, Mostafa MI, Hassib NF, El-Sayed H, Zada SK, El-Kamah G. Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. Genes (Basel) 2022;13:1056. [PMID: 35741818 DOI: 10.3390/genes13061056] [Reference Citation Analysis]
4 Mustafi D, Hisama FM, Huey J, Chao JR. The current state of genetic testing platforms for inherited retinal diseases. Ophthalmol Retina 2022:S2468-6530(22)00111-7. [PMID: 35307606 DOI: 10.1016/j.oret.2022.03.011] [Reference Citation Analysis]
5 Keegan NP, Wilton SD, Fletcher S. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing. Front Genet 2022;12:806946. [DOI: 10.3389/fgene.2021.806946] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [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: 3.5] [Reference Citation Analysis]
7 Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet 2021;17:e1009848. [PMID: 34662339 DOI: 10.1371/journal.pgen.1009848] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
8 García Bohórquez B, Aller E, Rodríguez Muñoz A, Jaijo T, García García G, Millán JM. Updating the Genetic Landscape of Inherited Retinal Dystrophies. Front Cell Dev Biol 2021;9:645600. [PMID: 34327195 DOI: 10.3389/fcell.2021.645600] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 1.5] [Reference Citation Analysis]
9 Walker S, Lamoureux S, Khan T, Joynt ACM, Bradley M, Branson HM, Carter MT, Hayeems RZ, Jagiello L, Marshall CR, Meyn MS, Miller SP, Wilson D, Scherer SW, Blaser S, Mireskandari K, Costain G. Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challenges. Am J Med Genet A 2021. [PMID: 34159711 DOI: 10.1002/ajmg.a.62389] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
10 Bowles B, Ferrer A, Nishimura CJ, Pinto E Vairo F, Rey T, Leheup B, Sullivan J, Schoch K, Stong N, Agolini E, Cocciadiferro D, Williams A, Cummings A, Loddo S, Genovese S, Roadhouse C, McWalter K, Wentzensen IM, Li C, Babovic-Vuksanovic D, Lanpher BC, Dentici ML, Ankala A, Hamm JA, Dallapiccola B, Radio FC, Shashi V, Gérard B, Bloch-Zupan A, Smith RJ, Klee EW; Undiagnosed Diseases Network. TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study. Am J Med Genet A 2021;185:2417-33. [PMID: 34042254 DOI: 10.1002/ajmg.a.62347] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
11 Dockery A, Whelan L, Humphries P, Farrar GJ. Next-Generation Sequencing Applications for Inherited Retinal Diseases. Int J Mol Sci 2021;22:5684. [PMID: 34073611 DOI: 10.3390/ijms22115684] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
12 Orhan E, Neuillé M, de Sousa Dias M, Pugliese T, Michiels C, Condroyer C, Antonio A, Sahel JA, Audo I, Zeitz C. A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency. Int J Mol Sci 2021;22:4424. [PMID: 33922602 DOI: 10.3390/ijms22094424] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
13 Bolz HJ. Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective. Klin Monbl Augenheilkd 2021;238:261-6. [PMID: 33784789 DOI: 10.1055/a-1386-5361] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
14 Ki CS. Recent Advances in the Clinical Application of Next-Generation Sequencing. Pediatr Gastroenterol Hepatol Nutr 2021;24:1-6. [PMID: 33505888 DOI: 10.5223/pghn.2021.24.1.1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 3.0] [Reference Citation Analysis]
15 Kortüm F, Kieninger S, Mazzola P, Kohl S, Wissinger B, Prokisch H, Stingl K, Weisschuh N. X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR. Int J Mol Sci 2021;22:E850. [PMID: 33467000 DOI: 10.3390/ijms22020850] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]