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For: 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]
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 van der Sanden BPGH, Schobers G, Corominas Galbany J, Koolen DA, Sinnema M, van Reeuwijk J, Stumpel CTRM, Kleefstra T, de Vries BBA, Ruiterkamp-Versteeg M, Leijsten N, Kwint M, Derks R, Swinkels H, den Ouden A, Pfundt R, Rinne T, de Leeuw N, Stegmann AP, Stevens SJ, van den Wijngaard A, Brunner HG, Yntema HG, Gilissen C, Nelen MR, Vissers LELM. The performance of genome sequencing as a first-tier test for neurodevelopmental disorders. Eur J Hum Genet 2023;31:81-8. [PMID: 36114283 DOI: 10.1038/s41431-022-01185-9] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 4.0] [Reference Citation Analysis]
3 de Bruijn SE, Rodenburg K, Corominas J, Ben-yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJ, Haer-wigman L, Hoyng CB, Nelen MR, Vissers LE, van den Born LI, Gilissen C, Cremers FP, Hoischen A, Neveling K, Roosing S. Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes. Genetics in Medicine 2022. [DOI: 10.1016/j.gim.2022.11.013] [Reference Citation Analysis]
4 Chen Z, Chen J, Gao M, Liu Y, Wu Y, Wang Y, Gong Y, Yu S, Liu W, Wan X, Sun X. Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus. Hum Mutat 2022;43:2279-94. [PMID: 36317469 DOI: 10.1002/humu.24494] [Reference Citation Analysis]
5 Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R. Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Cold Spring Harb Mol Case Stud 2022;8. [PMID: 36376065 DOI: 10.1101/mcs.a006247] [Reference Citation Analysis]
6 Hitti-Malin RJ, Dhaenens CM, Panneman DM, Corradi Z, Khan M, den Hollander AI, Farrar GJ, Gilissen C, Hoischen A, van de Vorst M, Bults F, Boonen EGM, Saunders P, Roosing S, Cremers FPM; MD Study Group. Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases. Hum Mutat 2022;43:2234-50. [PMID: 36259723 DOI: 10.1002/humu.24489] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
7 Gao J, Li X, Guo Y, Yu H, Song L, Fang Y, Yuan E, Shi Q, Zhao D, Yuan E, Zhang L. Identification of phenylketonuria patient genotypes using single-gene full-length sequencing. Hum Genomics 2022;16. [DOI: 10.1186/s40246-022-00397-w] [Reference Citation Analysis]
8 Sano Y, Koyanagi Y, Wong JH, Murakami Y, Fujiwara K, Endo M, Aoi T, Hashimoto K, Nakazawa T, Wada Y, Ueno S, Gao D, Murakami A, Hotta Y, Ikeda Y, Nishiguchi KM, Momozawa Y, Sonoda KH, Akiyama M, Fujimoto A. Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing. J Med Genet 2022:jmedgenet-2022-108428. [PMID: 35710107 DOI: 10.1136/jmedgenet-2022-108428] [Reference Citation Analysis]
9 Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI. Clinical and genetic findings in TRPM1-related congenital stationary night blindness. Acta Ophthalmol 2022. [PMID: 35633130 DOI: 10.1111/aos.15186] [Reference Citation Analysis]
10 Hitti-malin RJ, Dhaenens C, Panneman DM, Corradi Z, Khan M, den Hollander AI, Farrar GJ, Gilissen C, Hoischen A, van de Vorst M, Bults F, Boonen EG, Saunders P, Roosing S, Cremers FP, MD Study Group. Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.. [DOI: 10.1101/2022.03.17.22272534] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
11 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]
12 Stephenson KAJ, Zhu J, Dockery A, Whelan L, Burke T, Turner J, O'Byrne JJ, Farrar GJ, Keegan DJ. Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing. Int J Mol Sci 2022;23:995. [PMID: 35055178 DOI: 10.3390/ijms23020995] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]