1 |
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
61
6
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Hershberger RE...Gonzalez-Quintana J
|
20215591 |
2010 |
2 |
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
6
61
|
Hershberger RE...Litt M
|
19412328 |
2008 |
3 |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
6
|
Kalia SS...Miller DT
|
27854360 |
2017 |
4 |
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias.
6
|
Levitas A...Parvari R
|
26419279 |
2016 |
5 |
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.
6
|
Hinson JT...Seidman CE
|
26315439 |
2015 |
6 |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
6
|
ACMG Board of Directors
|
25356965 |
2015 |
7 |
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
6
|
Girolami F...Olivotto I
|
25173926 |
2014 |
8 |
Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
6
|
Bagnall RD...Semsarian C
|
25224718 |
2014 |
9 |
RAF1 mutations in childhood-onset dilated cardiomyopathy.
6
|
Dhandapany PS...Gelb BD
|
24777450 |
2014 |
10 |
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
6
|
Rutschow D...Muller OJ
|
23695275 |
2014 |
11 |
Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
6
|
Arndt AK...Klaassen S
|
23768516 |
2013 |
12 |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
6
|
Green RC...American College of Medical Genetics and Genomics
|
23788249 |
2013 |
13 |
Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.
6
|
Meyer T...German Competence Network Heart Failure
|
22892539 |
2013 |
14 |
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
6
|
Mann SA...Fatkin D
|
22999724 |
2012 |
15 |
Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
6
|
Nair K...Nanthakumar K
|
22710484 |
2012 |
16 |
Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
6
|
Laurent G...Probst V
|
22766342 |
2012 |
17 |
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
6
|
Purevjav E...Towbin JA
|
22286171 |
2012 |
18 |
Homozygosity mapping and exome sequencing reveal GATAD1 mutation in autosomal recessive dilated cardiomyopathy.
6
|
Theis JL...Olson TM
|
21965549 |
2011 |
19 |
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
6
|
Arimura T...Kimura A
|
21898660 |
2011 |
20 |
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.
6
|
Probst S...Klaassen S
|
21551322 |
2011 |
21 |
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.
6
|
Norton N...Hershberger RE
|
21353195 |
2011 |
22 |
Lethal Arg9Cys phospholamban mutation hinders Ca2+-ATPase regulation and phosphorylation by protein kinase A.
6
|
Ha KN...Robia SL
|
21282613 |
2011 |
23 |
PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.
6
|
Landstrom AP...Ackerman MJ
|
21167350 |
2011 |
24 |
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
6
|
Levitas A...Parvari R
|
20551992 |
2010 |
25 |
Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation.
6
|
Luedde M...Frey N
|
20083571 |
2010 |
26 |
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy.
6
|
Li D...Hershberger RE
|
20590677 |
2010 |
27 |
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.
6
|
Chiu C...Semsarian C
|
20022194 |
2010 |
28 |
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy.
6
|
Hassel D...Rottbauer W
|
19881492 |
2009 |
29 |
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient.
6
|
Xiong H...Wu X
|
19842201 |
2009 |
30 |
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.
6
|
Brauch KM...Olson TM
|
19712804 |
2009 |
31 |
Does delta-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
6
|
Bauer R...Straub V
|
19259135 |
2009 |
32 |
Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
6
|
Carballo S...Watkins H
|
19590045 |
2009 |
33 |
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.
6
|
Menon SC...Olson TM
|
18651846 |
2008 |
34 |
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
6
|
Geier C...Ozcelik C
|
18505755 |
2008 |
35 |
A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.
6
|
Posch MG...Ozcelik C
|
18678517 |
2008 |
36 |
Revised spectrum of mutations in sarcoglycanopathies.
6
|
Trabelsi M...Chelly J
|
18285821 |
2008 |
37 |
Mutations in sarcomere protein genes in left ventricular noncompaction.
6
|
Klaassen S...Thierfelder L
|
18506004 |
2008 |
38 |
Shared genetic causes of cardiac hypertrophy in children and adults.
6
|
Morita H...Seidman CE
|
18403758 |
2008 |
39 |
A human phospholamban promoter polymorphism in dilated cardiomyopathy alters transcriptional regulation by glucocorticoids.
6
|
Haghighi K...Kranias EG
|
18241046 |
2008 |
40 |
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.
6
|
Duboscq-Bidot L...Villard E
|
18006477 |
2008 |
41 |
Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.
6
|
Chiu C...Semsarian C
|
17655857 |
2007 |
42 |
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
6
|
Knoll R...Bakkers J
|
17646580 |
2007 |
43 |
Dilated Cardiomyopathy Overview
6
|
Hershberger RE...Morales A
|
20301486 |
2007 |
44 |
Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.
6
|
Syrris P...McKenna WJ
|
17105751 |
2007 |
45 |
Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes.
6
|
Heydemann A...McNally EM
|
17164264 |
2007 |
46 |
Mutations of presenilin genes in dilated cardiomyopathy and heart failure.
6
|
Li D...Hershberger RE
|
17186461 |
2006 |
47 |
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy.
6
|
Theis JL...Ackerman MJ
|
17097056 |
2006 |
48 |
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
6
|
Murakami T...Nishino I
|
17036286 |
2006 |
49 |
Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.
6
|
Pagnamenta AT...Rahman S
|
16798039 |
2006 |
50 |
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc.
6
|
Vasile VC...Ackerman MJ
|
16949038 |
2006 |