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For: 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: 6.5] [Reference Citation Analysis]
Number Citing Articles
1 Schlottmann P, Pinto JL, Labat N, Yadarola MB, Bainttein S, Esposito E, Ibañez A, Barbaro E, Mendiara AÁ, Picotti C, Misisian AC, Andreussi L, Gras J, Capalbo L, Visotto M, Dipierri J, Alcoba E, Gabrielli LF, Ávila S, Aucar ME, Martin D, Ormaechea G, Inga M, Francone A, Charles M, Zompa T, Pérez P, Lotersztein V, Nuova P, Canonero I, Michaelides M, Arno G, Varela MD. Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.. [DOI: 10.21203/rs.3.rs-2371280/v1] [Reference Citation Analysis]
2 Okada E, Aoto Y, Horinouchi T, Yamamura T, Ichikawa Y, Tanaka Y, Ueda C, Kitakado H, Kondo A, Sakakibara N, Suzuki R, Usui J, Yamagata K, Iijima K, Nozu K. Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene. Clin Exp Nephrol 2022. [DOI: 10.1007/s10157-022-02294-x] [Reference Citation Analysis]
3 Bryen SJ, Yuen M, Joshi H, Dawes R, Zhang K, Lu JK, Jones KJ, Liang C, Wong W, Peduto AJ, Waddell LB, Evesson FJ, Cooper ST. Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone. Human Genetics and Genomics Advances 2022;3:100125. [DOI: 10.1016/j.xhgg.2022.100125] [Reference Citation Analysis]
4 Shapiro AJ, Stonebraker JR, Knowles MR, Zariwala MA. A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia. Am J Respir Cell Mol Biol 2022;67:511-4. [PMID: 36178856 DOI: 10.1165/rcmb.2022-0176LE] [Reference Citation Analysis]
5 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]
6 Blakes AJM, Wai HA, Davies I, Moledina HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Taylor Tavares AL, O'Donovan P, Douglas AGL, Whiffin N, Baralle D, Lord J; Genomics England Research Consortium, Splicing and Disease Working Group. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project. Genome Med 2022;14:79. [PMID: 35883178 DOI: 10.1186/s13073-022-01087-x] [Reference Citation Analysis]
7 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: 12] [Cited by in F6Publishing: 11] [Article Influence: 12.0] [Reference Citation Analysis]
8 Ma X, Pang Q, Zhang Q, Jiang Y, Wang O, Li M, Xing X, Xia W. A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia. Calcif Tissue Int 2022. [PMID: 35831717 DOI: 10.1007/s00223-022-01003-w] [Reference Citation Analysis]
9 Strauch Y, Lord J, Niranjan M, Baralle D. CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites. PLoS ONE 2022;17:e0269159. [DOI: 10.1371/journal.pone.0269159] [Reference Citation Analysis]
10 Lee J, Jeong H, Won D, Shin S, Lee ST, Choi JR, Byeon SH, Kuht HJ, Thomas MG, Han J. Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus. Transl Vis Sci Technol 2022;11:25. [PMID: 35762937 DOI: 10.1167/tvst.11.6.25] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
11 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]
12 Wai HA, Constable M, Drewes C, Davies IC, Svobodova E, Dempsey E, Saggar A, Homfray T, Mansour S, Douzgou S, Barr K, Scott S, Hunt D, Douglas AGL, Baralle D. Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis. Hum Mutat 2022. [PMID: 35476365 DOI: 10.1002/humu.24378] [Reference Citation Analysis]
13 Rowlands CF, Taylor A, Rice G, Whiffin N, Hall HN, Newman WG, Black GCM, O'Keefe RT, Hubbard S, Douglas AGL, Baralle D, Briggs TA, Ellingford JM; kConFab Investigators. MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease. Am J Hum Genet 2022;109:210-22. [PMID: 35065709 DOI: 10.1016/j.ajhg.2021.12.014] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
14 Blakes AJ, Wai H, Davies I, Moledian HE, Ruiz A, Thomas T, Bunyan D, Thomas NS, Burren CP, Greenhalgh L, Lees M, Pichini A, Smithson SF, Tavares ALT, O’donovan P, Douglas AG, Whiffin N, Baralle D, Lord J, Genomics England Research Consortium, Splicing and Disease Working Group. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.. [DOI: 10.1101/2022.01.28.22270002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Restivo C, Le Bras M, Deguigne P, Le Glatin L, Guerry C, Férec C, Le Maréchal C, Beloeil R, Fichou Y. The novel c.634+ 4A >G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan. Transfusion. [DOI: 10.1111/trf.16811] [Reference Citation Analysis]
16 Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izatt L, Josifova D, Mohammed S, Robert L, Rose S, Ruddy D, Sarkany R, Say G, Shaw AC, Wolejko A, Habib B, Burns G, Hunter S, Grocock RJ, Humphray SJ, Robinson PN, Haendel M, Simpson MA, Banka S, Clayton-Smith J, Douzgou S, Hall G, Thomas HB, O'Keefe RT, Michaelides M, Moore AT, Malka S, Pontikos N, Browning AC, Straub V, Gorman GS, Horvath R, Quinton R, Schaefer AM, Yu-Wai-Man P, Turnbull DM, McFarland R, Taylor RW, O'Connor E, Yip J, Newland K, Morris HR, Polke J, Wood NW, Campbell C, Camps C, Gibson K, Koelling N, Lester T, Németh AH, Palles C, Patel S, Roy NBA, Sen A, Taylor J, Cacheiro P, Jacobsen JO, Seaby EG, Davison V, Chitty L, Douglas A, Naresh K, McMullan D, Ellard S, Temple IK, Mumford AD, Wilson G, Beales P, Bitner-Glindzicz M, Black G, Bradley JR, Brennan P, Burn J, Chinnery PF, Elliott P, Flinter F, Houlden H, Irving M, Newman W, Rahman S, Sayer JA, Taylor JC, Webster AR, Wilkie AOM, Ouwehand WH, Raymond FL, Chisholm J, Hill S, Bentley D, Scott RH, Fowler T, Rendon A, Caulfield M; 100,000 Genomes Project Pilot Investigators. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med 2021;385:1868-80. [PMID: 34758253 DOI: 10.1056/NEJMoa2035790] [Cited by in Crossref: 100] [Cited by in F6Publishing: 113] [Article Influence: 50.0] [Reference Citation Analysis]