These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

192 related articles for article (PubMed ID: 39333091)

  • 1. ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
    O'Neill MJ; Yang T; Laudeman J; Calandranis ME; Harvey ML; Solus JF; Roden DM; Glazer AM
    Nat Commun; 2024 Sep; 15(1):8320. PubMed ID: 39333091
    [TBL] [Abstract][Full Text] [Related]  

  • 2. ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants.
    O'Neill MJ; Yang T; Laudeman J; Calandranis M; Solus J; Roden DM; Glazer AM
    medRxiv; 2023 Sep; ():. PubMed ID: 37732247
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
    Te Riele AS; Agullo-Pascual E; James CA; Leo-Macias A; Cerrone M; Zhang M; Lin X; Lin B; Sobreira NL; Amat-Alarcon N; Marsman RF; Murray B; Tichnell C; van der Heijden JF; Dooijes D; van Veen TA; Tandri H; Fowler SJ; Hauer RN; Tomaselli G; van den Berg MP; Taylor MR; Brun F; Sinagra G; Wilde AA; Mestroni L; Bezzina CR; Calkins H; Peter van Tintelen J; Bu L; Delmar M; Judge DP
    Cardiovasc Res; 2017 Jan; 113(1):102-111. PubMed ID: 28069705
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
    O'Neill MJ; Wada Y; Hall LD; Mitchell DW; Glazer AM; Roden DM
    Circ Genom Precis Med; 2022 Dec; 15(6):e003782. PubMed ID: 36197721
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia.
    Campostrini G; Kosmidis G; Ward-van Oostwaard D; Davis RP; Yiangou L; Ottaviani D; Veerman CC; Mei H; Orlova VV; Wilde AAM; Bezzina CR; Verkerk AO; Mummery CL; Bellin M
    Cardiovasc Res; 2023 Mar; 119(1):167-182. PubMed ID: 35394010
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Determining the Pathogenicity of a Genomic Variant of Uncertain Significance Using CRISPR/Cas9 and Human-Induced Pluripotent Stem Cells.
    Ma N; Zhang JZ; Itzhaki I; Zhang SL; Chen H; Haddad F; Kitani T; Wilson KD; Tian L; Shrestha R; Wu H; Lam CK; Sayed N; Wu JC
    Circulation; 2018 Dec; 138(23):2666-2681. PubMed ID: 29914921
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Transcriptional Dysregulation Underlies Both Monogenic Arrhythmia Syndrome and Common Modifiers of Cardiac Repolarization.
    Bersell KR; Yang T; Mosley JD; Glazer AM; Hale AT; Kryshtal DO; Kim K; Steimle JD; Brown JD; Salem JE; Campbell CC; Hong CC; Wells QS; Johnson AN; Short L; Blair MA; Behr ER; Petropoulou E; Jamshidi Y; Benson MD; Keyes MJ; Ngo D; Vasan RS; Yang Q; Gerszten RE; Shaffer C; Parikh S; Sheng Q; Kannankeril PJ; Moskowitz IP; York JD; Wang TJ; Knollmann BC; Roden DM
    Circulation; 2023 Mar; 147(10):824-840. PubMed ID: 36524479
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Patient-Specific and Genome-Edited Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome.
    Liang P; Sallam K; Wu H; Li Y; Itzhaki I; Garg P; Zhang Y; Vermglinchan V; Lan F; Gu M; Gong T; Zhuge Y; He C; Ebert AD; Sanchez-Freire V; Churko J; Hu S; Sharma A; Lam CK; Scheinman MM; Bers DM; Wu JC
    J Am Coll Cardiol; 2016 Nov; 68(19):2086-2096. PubMed ID: 27810048
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Switch From Fetal to Adult
    Veerman CC; Mengarelli I; Lodder EM; Kosmidis G; Bellin M; Zhang M; Dittmann S; Guan K; Wilde AAM; Schulze-Bahr E; Greber B; Bezzina CR; Verkerk AO
    J Am Heart Assoc; 2017 Jul; 6(7):. PubMed ID: 28739862
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MutSpliceDB: A database of splice sites variants with RNA-seq based evidence on effects on splicing.
    Palmisano A; Vural S; Zhao Y; Sonkin D
    Hum Mutat; 2021 Apr; 42(4):342-345. PubMed ID: 33600011
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
    Sparber P; Sharova M; Davydenko K; Pyankov D; Filatova A; Skoblov M
    Brain; 2024 Apr; 147(4):1278-1293. PubMed ID: 37956038
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Clinical Characteristics of
    Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
    Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of
    Sedaghat-Hamedani F; Rebs S; El-Battrawy I; Chasan S; Krause T; Haas J; Zhong R; Liao Z; Xu Q; Zhou X; Akin I; Zitron E; Frey N; Streckfuss-Bömeke K; Kayvanpour E
    Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884792
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition.
    Gizon M; Duboscq-Bidot L; El Kassar L; Bobin P; Ader F; Giraud-Triboult K; Charron P; Villard E; Fontaine V; Neyroud N
    Stem Cell Res; 2022 Apr; 60():102680. PubMed ID: 35093717
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Multisite Validation of a Functional Assay to Adjudicate
    Ma JG; O'Neill MJ; Richardson E; Thomson KL; Ingles J; Muhammad A; Solus JF; Davogustto G; Anderson KC; Shoemaker MB; Stergachis AB; Floyd BJ; Dunn K; Parikh VN; Chubb H; Perrin MJ; Roden DM; Vandenberg JI; Ng CA; Glazer AM
    Circ Genom Precis Med; 2024 Aug; 17(4):e004569. PubMed ID: 38953211
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Na
    Pierre M; Djemai M; Poulin H; Chahine M
    Sci Rep; 2021 Aug; 11(1):17168. PubMed ID: 34433864
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The G213D variant in Nav1.5 alters sodium current and causes an arrhythmogenic phenotype resulting in a multifocal ectopic Purkinje-related premature contraction phenotype in human-induced pluripotent stem cell-derived cardiomyocytes.
    Calloe K; Geryk M; Freude K; Treat JA; Vold VA; Frederiksen HRS; Broendberg AK; Frederiksen TC; Jensen HK; Cordeiro JM
    Europace; 2022 Dec; 24(12):2015-2027. PubMed ID: 35726875
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Multiple mechanisms underlie increased cardiac late sodium current.
    Kroncke BM; Yang T; Roden DM
    Heart Rhythm; 2019 Jul; 16(7):1091-1097. PubMed ID: 30677491
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.