406 related articles for article (PubMed ID: 28679633)
1. Identification of pathogenic gene mutations in
Ito K; Patel PN; Gorham JM; McDonough B; DePalma SR; Adler EE; Lam L; MacRae CA; Mohiuddin SM; Fatkin D; Seidman CE; Seidman JG
Proc Natl Acad Sci U S A; 2017 Jul; 114(29):7689-7694. PubMed ID: 28679633
[TBL] [Abstract][Full Text] [Related]
2. Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.
Frisso G; Detta N; Coppola P; Mazzaccara C; Pricolo MR; D'Onofrio A; Limongelli G; Calabrò R; Salvatore F
Int J Mol Sci; 2016 Nov; 17(11):. PubMed ID: 27834932
[TBL] [Abstract][Full Text] [Related]
3. Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.
Singer ES; Ingles J; Semsarian C; Bagnall RD
Circ Genom Precis Med; 2019 Jan; 12(1):e002368. PubMed ID: 30645170
[TBL] [Abstract][Full Text] [Related]
4. Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death.
Zaragoza MV; Fung L; Jensen E; Oh F; Cung K; McCarthy LA; Tran CK; Hoang V; Hakim SA; Grosberg A
PLoS One; 2016; 11(5):e0155421. PubMed ID: 27182706
[TBL] [Abstract][Full Text] [Related]
5.
Kato K; Ohno S; Sonoda K; Fukuyama M; Makiyama T; Ozawa T; Horie M
Circ Genom Precis Med; 2020 Oct; 13(5):435-443. PubMed ID: 32818388
[TBL] [Abstract][Full Text] [Related]
6. New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
Rogozhina Y; Mironovich S; Shestak A; Adyan T; Polyakov A; Podolyak D; Bakulina A; Dzemeshkevich S; Zaklyazminskaya E
Gene; 2016 Dec; 595(2):202-206. PubMed ID: 27717888
[TBL] [Abstract][Full Text] [Related]
7. Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.
Sedaghat-Hamedani F; Rebs S; Kayvanpour E; Zhu C; Amr A; Müller M; Haas J; Wu J; Steinmetz LM; Ehlermann P; Streckfuss-Bömeke K; Frey N; Meder B
Int J Mol Sci; 2022 Oct; 23(20):. PubMed ID: 36293084
[TBL] [Abstract][Full Text] [Related]
8. Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.
Soens ZT; Branch J; Wu S; Yuan Z; Li Y; Li H; Wang K; Xu M; Rajan L; Motta FL; Simões RT; Lopez-Solache I; Ajlan R; Birch DG; Zhao P; Porto FB; Sallum J; Koenekoop RK; Sui R; Chen R
Hum Mutat; 2017 Nov; 38(11):1521-1533. PubMed ID: 28714225
[TBL] [Abstract][Full Text] [Related]
9. Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Groeneweg JA; Ummels A; Mulder M; Bikker H; van der Smagt JJ; van Mil AM; Homfray T; Post JG; Elvan A; van der Heijden JF; Houweling AC; Jongbloed JD; Wilde AA; van Tintelen JP; Hauer RN; Dooijes D
Heart Rhythm; 2014 Nov; 11(11):2010-7. PubMed ID: 25087486
[TBL] [Abstract][Full Text] [Related]
10. Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.
Zhao Y; Cao H; Song Y; Feng Y; Ding X; Pang M; Zhang Y; Zhang H; Ding J; Xia X
Int J Mol Med; 2016 Jun; 37(6):1511-20. PubMed ID: 27082122
[TBL] [Abstract][Full Text] [Related]
11. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
[TBL] [Abstract][Full Text] [Related]
12. Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.
Gaildrat P; Krieger S; Di Giacomo D; Abdat J; Révillion F; Caputo S; Vaur D; Jamard E; Bohers E; Ledemeney D; Peyrat JP; Houdayer C; Rouleau E; Lidereau R; Frébourg T; Hardouin A; Tosi M; Martins A
J Med Genet; 2012 Oct; 49(10):609-17. PubMed ID: 22962691
[TBL] [Abstract][Full Text] [Related]
13. Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Janin A; Chanavat V; Rollat-Farnier PA; Bardel C; Nguyen K; Chevalier P; Eicher JC; Faivre L; Piard J; Albert E; Nony S; Millat G
Hum Mutat; 2020 Feb; 41(2):465-475. PubMed ID: 31730716
[TBL] [Abstract][Full Text] [Related]
14. SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Alimohamed MZ; Boven LG; van Dijk KK; Vos YJ; Hoedemaekers YM; van der Zwaag PA; Sijmons RH; Jongbloed JDH; Sikkema-Raddatz B; Westers H
Gene; 2023 Jan; 851():146984. PubMed ID: 36270459
[TBL] [Abstract][Full Text] [Related]
15. A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.
Park J; Levin MG; Haggerty CM; Hartzel DN; Judy R; Kember RL; Reza N; ; Ritchie MD; Owens AT; Damrauer SM; Rader DJ
Genet Med; 2020 Jan; 22(1):102-111. PubMed ID: 31383942
[TBL] [Abstract][Full Text] [Related]
16. Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.
Suay-Corredera C; Pricolo MR; Herrero-Galán E; Velázquez-Carreras D; Sánchez-Ortiz D; García-Giustiniani D; Delgado J; Galano-Frutos JJ; García-Cebollada H; Vilches S; Domínguez F; Molina MS; Barriales-Villa R; Frisso G; Sancho J; Serrano L; García-Pavía P; Monserrat L; Alegre-Cebollada J
J Biol Chem; 2021 Jul; 297(1):100854. PubMed ID: 34097875
[TBL] [Abstract][Full Text] [Related]
17. Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.
Bennett JS; Gordon DM; Majumdar U; Lawrence PJ; Matos-Nieves A; Myers K; Kamp AN; Leonard JC; McBride KL; White P; Garg V
Heart Rhythm; 2022 Apr; 19(4):676-685. PubMed ID: 34958940
[TBL] [Abstract][Full Text] [Related]
18. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.
Torrado M; Maneiro E; Lamounier Junior A; Fernández-Burriel M; Sánchez Giralt S; Martínez-Carapeto A; Cazón L; Santiago E; Ochoa JP; McKenna WJ; Santomé L; Monserrat L
Sci Rep; 2022 May; 12(1):7284. PubMed ID: 35508642
[TBL] [Abstract][Full Text] [Related]
19. Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.
Millat G; Lafont E; Nony S; Rouvet I; Bozon D
DNA Cell Biol; 2015 Jul; 34(7):489-96. PubMed ID: 25849606
[TBL] [Abstract][Full Text] [Related]
20. Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.
Saga A; Karibe A; Otomo J; Iwabuchi K; Takahashi T; Kanno H; Kikuchi J; Keitoku M; Shinozaki T; Shimokawa H
Tohoku J Exp Med; 2009 Aug; 218(4):309-16. PubMed ID: 19638735
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
