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For: 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]
Number Citing Articles
1 Ait-el-mkadem Saadi S, Kaphan E, Morales Jaurrieta A, Fragaki K, Chaussenot A, Bannwarth S, Maues De Paula A, Paquis-flucklinger V, Rouzier C. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. European Journal of Medical Genetics 2022;65:104643. [DOI: 10.1016/j.ejmg.2022.104643] [Reference Citation Analysis]
2 Horton C, Cass A, Conner BR, Hoang L, Zimmermann H, Abualkheir N, Burks D, Qian D, Molparia B, Vuong H, LaDuca H, Grzybowski J, Durda K, Pilarski R, Profato J, Clayback K, Mahoney M, Schroeder C, Torres-Martinez W, Elliott A, Chao EC, Karam R. Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer. NPJ Genom Med 2022;7:49. [PMID: 36008414 DOI: 10.1038/s41525-022-00323-y] [Reference Citation Analysis]
3 Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, Misyura M, Aypar U, Jairam S, Yang C, Li Y, Mehta N, Maio A, Arnold A, Salo-Mullen E, Sheehan M, Syed A, Walsh M, Carlo M, Robson M, Offit K, Ladanyi M, Reis-Filho JS, Stadler ZK, Zhang L, Latham A, Zehir A, Mandelker D. Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients. Genome Med 2022;14:92. [PMID: 35971132 DOI: 10.1186/s13073-022-01101-2] [Reference Citation Analysis]
4 De Salis SKF, Li L, Chen Z, Lam KW, Skarratt KK, Balle T, Fuller SJ. Alternatively Spliced Isoforms of the P2X7 Receptor: Structure, Function and Disease Associations. Int J Mol Sci 2022;23:8174. [PMID: 35897750 DOI: 10.3390/ijms23158174] [Reference Citation Analysis]
5 Kamps-hughes N, Carlton V, Fresard L, Osazuwa S, Starks E, Vincent JJ, Albritton S, Nussbaum RL, Nykamp K. An algorithm to detect abnormal mRNA splicing and assess its clinical impact in individuals undergoing genetic testing for hereditary cancer syndromes.. [DOI: 10.1101/2022.07.12.499782] [Reference Citation Analysis]
6 Martínez-Pizarro A, Leal F, Holm LL, Doktor TK, Petersen USS, Bueno M, Thöny B, Pérez B, Andresen BS, Desviat LR. Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene. Nucleic Acid Ther 2022. [PMID: 35833796 DOI: 10.1089/nat.2021.0066] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 Sanoguera-Miralles L, Bueno-Martínez E, Valenzuela-Palomo A, Esteban-Sánchez A, Llinares-Burguet I, Pérez-Segura P, García-Álvarez A, de la Hoya M, Velasco-Sampedro EA. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C. Cancers (Basel) 2022;14:2960. [PMID: 35740625 DOI: 10.3390/cancers14122960] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Dekker J, Schot R, Bongaerts M, de Valk WG, van Veghel-plandsoen MM, Monfils K, Douben H, Elfferich P, Kasteleijn E, van Unen LM, Geeven G, Saris JJ, van Ierland Y, Verheijen FW, van der Sterre ML, Niaraki FS, Huidekoper HH, Williams M, Wilke M, Verhoeven VJ, Joosten M, Kievit AJ, van de Laar IM, Hoefsloot LH, Hoogeveen-westerveld M, Nellist M, Mancini GM, van Ham TJ. RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants.. [DOI: 10.1101/2022.06.05.22275956] [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 Gu H, Hong J, Lee W, Kim SB, Chun S, Min WK. RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance (SDHD c.314+3A>T) in Splicing Site Consensus Sequences. Ann Lab Med 2022;42:376-9. [PMID: 34907111 DOI: 10.3343/alm.2022.42.3.376] [Reference Citation Analysis]
11 Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski C, Mosegaard S, Müller MF, Muñoz-Pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-Abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med 2022;14:38. [PMID: 35379322 DOI: 10.1186/s13073-022-01019-9] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 14.0] [Reference Citation Analysis]
12 Dawes R, Joshi H, Cooper ST. Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data. Nat Commun 2022;13. [DOI: 10.1038/s41467-022-29271-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
13 Tian Y, Xie H, Yang S, Shangguan S, Wang J, Jin C, Zhang Y, Cui X, Lyu Y, Chen X, Wang L. Possible Catch-Up Developmental Trajectories for Children with Mild Developmental Delay Caused by NAA15 Pathogenic Variants. Genes 2022;13:536. [DOI: 10.3390/genes13030536] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
14 Fischer J, Di Donato N. Diagnostic pitfalls in patients with malformations of cortical development. Eur J Paediatr Neurol 2022;37:123-8. [PMID: 35228169 DOI: 10.1016/j.ejpn.2022.01.017] [Reference Citation Analysis]
15 He WB, Xiao WJ, Dai CL, Wang YR, Li XR, Gong F, Meng LL, Tan C, Zeng SC, Lu GX, Lin G, Tan YQ, Hu H, Du J. RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders. J Med Genet 2022:jmedgenet-2021-108013. [PMID: 35121647 DOI: 10.1136/jmedgenet-2021-108013] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
16 Villate O, Maortua H, Tejada M, Llano-rivas I. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome. Front Pediatr 2022;10:827802. [DOI: 10.3389/fped.2022.827802] [Reference Citation Analysis]
17 Canson DM, Dumenil T, Parsons MT, O'Mara TA, Davidson AL, Okano S, Signal B, Mercer TR, Glubb DM, Spurdle AB. The splicing effect of variants at branchpoint elements in cancer genes. Genet Med 2021:S1098-3600(21)05348-X. [PMID: 34906448 DOI: 10.1016/j.gim.2021.09.020] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
18 Synofzik M, van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A. Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives. Nucleic Acid Ther 2021. [PMID: 34591693 DOI: 10.1089/nat.2021.0039] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
19 Martín M, Nicola JP. Impact of the mutational landscape of the sodium/iodide symporter in congenital hypothyroidism. Thyroid 2021. [PMID: 34514854 DOI: 10.1089/thy.2021.0381] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
20 Lin JH, Wu H, Zou WB, Masson E, Fichou Y, Le Gac G, Cooper DN, Férec C, Liao Z, Chen JM. Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing Assays. Front Genet 2021;12:701652. [PMID: 34422003 DOI: 10.3389/fgene.2021.701652] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
21 Yépez VA, Gusic M, Kopajtich R, Mertes C, Smith NH, Alston CL, Ban R, Beblo S, Berutti R, Blessing H, Ciara E, Distelmaier F, Freisinger P, Häberle J, Hayflick SJ, Hempel M, Itkis YS, Kishita Y, Klopstock T, Krylova TD, Lamperti C, Lenz D, Makowski CC, Mosegaard S, Müller MF, Muñoz-pujol G, Nadel A, Ohtake A, Okazaki Y, Procopio E, Schwarzmayr T, Smet J, Staufner C, Stenton SL, Strom TM, Terrile C, Tort F, Van Coster R, Vanlander A, Wagner M, Xu M, Fang F, Ghezzi D, Mayr JA, Piekutowska-abramczuk D, Ribes A, Rötig A, Taylor RW, Wortmann SB, Murayama K, Meitinger T, Gagneur J, Prokisch H. Clinical implementation of RNA sequencing for Mendelian disease diagnostics.. [DOI: 10.1101/2021.04.01.21254633] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]