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For: 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]
Number Citing Articles
1 Felker SA, Lawlor JM, Hiatt SM, Thompson ML, Latner DR, Finnila CR, Bowling KM, Bonnstetter ZT, Bonini KE, Kelly NR, Kelley WV, Hurst AC, Kelly MA, Nakouzi G, Hendon LG, Bebin EM, Kenny EE, Cooper GM. Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing. bioRxiv 2023:2023. [PMID: 36711854 DOI: 10.1101/2023.01.12.523654] [Reference Citation Analysis]
2 Shu L, Maroilley T, Tarailo-Graovac M. The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases. Genes (Basel) 2023;14. [PMID: 36672937 DOI: 10.3390/genes14010196] [Reference Citation Analysis]
3 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]
4 Kircher M, Ludwig KU. Systematic assays and resources for the functional annotation of non-coding variants. Medizinische Genetik 2022;34:275-286. [DOI: 10.1515/medgen-2022-2161] [Reference Citation Analysis]
5 Niazi Y, Paramasivam N, Blocka J, Kumar A, Huhn S, Schlesner M, Weinhold N, Sijmons R, De Jong M, Durie B, Goldschmidt H, Hemminki K, Försti A. Investigation of Rare Non-Coding Variants in Familial Multiple Myeloma. Cells 2022;12. [PMID: 36611892 DOI: 10.3390/cells12010096] [Reference Citation Analysis]
6 Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, Mcgowan R, Moore DJ, O’sullivan D, Purvis A, Santoyo-lopez J, Westwood P, Abbott M, Williams N, Aitman TJ, Biankin AV, Cooke SL, Humphrey WI, Martin S, Meynert A, Murphy F, Nourse C, Semple CA, Williams N, Dean J, Foley P, Robertson L, Ross A, Williamson K, Berg J, Goudie D, Mcwilliam C, Fitzpatrick D, Fletcher E, Jackson A, Lam W, Porteous M, Barr K, Bradshaw N, Davidson R, Gardiner C, Gorrie J, Hague R, Hamilton M, Joss S, Kinning E, Longman C, Martin N, Mcgowan R, Paterson J, Pilz D, Snadden L, Tobias E, Wedderburn S, Whiteford M, Aitman TJ, Miedzybrodzka Z, Scottish Genomes Partnership. Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. Eur J Hum Genet 2022. [DOI: 10.1038/s41431-022-01226-3] [Reference Citation Analysis]
7 Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Intronic variants in inborn errors of metabolism: Beyond the exome. Front Genet 2022;13:1031495. [PMID: 36561316 DOI: 10.3389/fgene.2022.1031495] [Reference Citation Analysis]
8 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]
9 Findlay SD, Romo L, Burge CB. Quantifying negative selection in human 3’ UTRs uncovers constrained targets of RNA-binding proteins.. [DOI: 10.1101/2022.11.30.518628] [Reference Citation Analysis]
10 Dofash LNH, Monahan GV, Servián-morilla E, Rivas E, Faiz F, Sullivan P, Oates E, Clayton J, Taylor RL, Davis MR, Beilharz T, Laing NG, Cabrera-serrano M, Ravenscroft G. A KLHL40 3’ UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism. Human Molecular Genetics 2022. [DOI: 10.1093/hmg/ddac272] [Reference Citation Analysis]
11 Tabarini N, Biagi E, Uva P, Iovino E, Pippucci T, Seri M, Cavalli A, Ceccherini I, Rusmini M, Viti F. Exploration of Tools for the Interpretation of Human Non-Coding Variants. IJMS 2022;23:12977. [DOI: 10.3390/ijms232112977] [Reference Citation Analysis]
12 Pilz RA, Skowronek D, Hamed M, Weise A, Mangold E, Radbruch A, Pietsch T, Felbor U, Rath M. Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel CCM1 transcription start site deletion. Front Mol Biosci 2022;9:953048. [DOI: 10.3389/fmolb.2022.953048] [Reference Citation Analysis]