BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

271 related articles for article (PubMed ID: 23074333)

  • 1. Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.
    Pan S; Caleshu CA; Dunn KE; Foti MJ; Moran MK; Soyinka O; Ashley EA
    Circ Cardiovasc Genet; 2012 Dec; 5(6):602-10. PubMed ID: 23074333
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Population-based variation in cardiomyopathy genes.
    Golbus JR; Puckelwartz MJ; Fahrenbach JP; Dellefave-Castillo LM; Wolfgeher D; McNally EM
    Circ Cardiovasc Genet; 2012 Aug; 5(4):391-9. PubMed ID: 22763267
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).
    Murray B; Hoorntje ET; Te Riele ASJM; Tichnell C; van der Heijden JF; Tandri H; van den Berg MP; Jongbloed JDH; Wilde AAM; Hauer RNW; Calkins H; Judge DP; James CA; van Tintelen JP; Dooijes D
    J Cardiovasc Electrophysiol; 2018 Jul; 29(7):1004-1009. PubMed ID: 29709087
    [TBL] [Abstract][Full Text] [Related]  

  • 4. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
    Andreasen C; Nielsen JB; Refsgaard L; Holst AG; Christensen AH; Andreasen L; Sajadieh A; Haunsø S; Svendsen JH; Olesen MS
    Eur J Hum Genet; 2013 Sep; 21(9):918-28. PubMed ID: 23299917
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Interpreting secondary cardiac disease variants in an exome cohort.
    Ng D; Johnston JJ; Teer JK; Singh LN; Peller LC; Wynter JS; Lewis KL; Cooper DN; Stenson PD; Mullikin JC; Biesecker LG;
    Circ Cardiovasc Genet; 2013 Aug; 6(4):337-46. PubMed ID: 23861362
    [TBL] [Abstract][Full Text] [Related]  

  • 6. New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.
    Jabbari J; Jabbari R; Nielsen MW; Holst AG; Nielsen JB; Haunsø S; Tfelt-Hansen J; Svendsen JH; Olesen MS
    Circ Cardiovasc Genet; 2013 Oct; 6(5):481-9. PubMed ID: 24025405
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human
    Pettinato AM; Ladha FA; Mellert DJ; Legere N; Cohn R; Romano R; Thakar K; Chen YS; Hinson JT
    Circulation; 2020 Dec; 142(23):2262-2275. PubMed ID: 33025817
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identifying Mendelian disease genes with the variant effect scoring tool.
    Carter H; Douville C; Stenson PD; Cooper DN; Karchin R
    BMC Genomics; 2013; 14 Suppl 3(Suppl 3):S3. PubMed ID: 23819870
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes.
    Tadros HJ; Life CS; Garcia G; Pirozzi E; Jones EG; Datta S; Parvatiyar MS; Chase PB; Allen HD; Kim JJ; Pinto JR; Landstrom AP
    J Mol Cell Cardiol; 2020 May; 142():118-125. PubMed ID: 32278834
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Action and the actionability in exome variation.
    MacRae CA
    Circ Cardiovasc Genet; 2012 Dec; 5(6):597-8. PubMed ID: 23250897
    [No Abstract]   [Full Text] [Related]  

  • 11. Targeted 46-gene and clinical exome sequencing for mutations causing cardiomyopathies.
    Waldmüller S; Schroeder C; Sturm M; Scheffold T; Imbrich K; Junker S; Frische C; Hofbeck M; Bauer P; Bonin M; Gawaz M; Gramlich M
    Mol Cell Probes; 2015 Oct; 29(5):308-14. PubMed ID: 25979592
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.
    Shehata BM; Cundiff CA; Lee K; Sabharwal A; Lalwani MK; Davis AK; Agrawal V; Sivasubbu S; Iannucci GJ; Gibson G
    Am J Med Genet A; 2015 Sep; 167A(9):2114-21. PubMed ID: 25921236
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
    Vadgama N; Ameen M; Sundaram L; Gaddam S; ; Gifford C; Nasir J; Karakikes I
    Hum Genomics; 2022 Nov; 16(1):55. PubMed ID: 36357925
    [TBL] [Abstract][Full Text] [Related]  

  • 14. High-frequency actionable pathogenic exome variants in an average-risk cohort.
    Rego S; Dagan-Rosenfeld O; Zhou W; Sailani MR; Limcaoco P; Colbert E; Avina M; Wheeler J; Craig C; Salins D; Röst HL; Dunn J; McLaughlin T; Steinmetz LM; Bernstein JA; Snyder MP
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30487145
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy.
    Mori AA; Castro LR; Bortolin RH; Bastos GM; Oliveira VF; Ferreira GM; Hirata TDC; Fajardo CM; Sampaio MF; Moreira DAR; Pachón-Mateos JC; Correia EB; Sousa AGMR; Brión M; Carracedo A; Hirata RDC; Hirata MH
    Forensic Sci Int Genet; 2021 May; 52():102478. PubMed ID: 33588347
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.
    Kalani MY; Siniard AL; Corneveaux JJ; Bruhns R; Richholt R; Forseth J; Zabramski JM; Nakaji P; Spetzler RF; Huentelman MJ
    Neurosurgery; 2016 Jun; 78(6):835-43. PubMed ID: 26606670
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy.
    Chung H; Kim Y; Cho SM; Lee HJ; Park CH; Kim JY; Lee SH; Min PK; Yoon YW; Lee BK; Kim WS; Hong BK; Kim TH; Rim SJ; Kwon HM; Choi EY; Lee KA
    Mitochondrion; 2020 Jul; 53():48-56. PubMed ID: 32380161
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.
    Wu W; Lu CX; Wang YN; Liu F; Chen W; Liu YT; Han YC; Cao J; Zhang SY; Zhang X
    J Am Heart Assoc; 2015 Jul; 4(7):. PubMed ID: 26163040
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.
    Abbasi Y; Jabbari J; Jabbari R; Glinge C; Izadyar SB; Spiekerkoetter E; Zamanian RT; Carlsen J; Tfelt-Hansen J
    Mol Genet Genomic Med; 2018 Sep; 6(5):835-844. PubMed ID: 30084161
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.