-
1
-
-
83055174616
-
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy
-
American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.: A report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons
-
Gersh BJ, et al; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2011;58:e212-e260. doi: 10.1016/j.jacc.2011.06.011
-
(2011)
J Am Coll Cardiol.
, vol.58
, pp. e212-e260
-
-
Gersh, B.J.1
-
2
-
-
84919666867
-
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC)
-
Elliott PM, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35:2733-2779.
-
(2014)
Eur Heart J.
, vol.35
, pp. 2733-2779
-
-
Elliott, P.M.1
-
3
-
-
84925353263
-
New perspectives on the prevalence of hypertrophic cardiomyopathy
-
Semsarian C, et al. New perspectives on the prevalence of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2015;65:1249-1254. doi: 10.1016/j.jacc.2015.01.019
-
(2015)
J Am Coll Cardiol.
, vol.65
, pp. 1249-1254
-
-
Semsarian, C.1
-
4
-
-
0029083650
-
Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults
-
Maron BJ, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation. 1995;92:785-789.
-
(1995)
Circulation.
, vol.92
, pp. 785-789
-
-
Maron, B.J.1
-
5
-
-
0024426784
-
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1
-
Jarcho JA, et al. Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1. N Engl J Med. 1989;321:1372-1378. doi: 10.1056/NEJM198911163212005
-
(1989)
N Engl J Med.
, vol.321
, pp. 1372-1378
-
-
Jarcho, J.A.1
-
6
-
-
84903836626
-
Hypertrophic cardiomyopathy: Present and future, with translation into contemporary cardiovascular medicine
-
Maron BJ, et al. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol. 2014;64:83-99. doi: 10.1016/j.jacc.2014.05.003
-
(2014)
J Am Coll Cardiol.
, vol.64
, pp. 83-99
-
-
Maron, B.J.1
-
7
-
-
85032499322
-
Role of genetic testing in inherited cardiovascular disease: A review
-
Cirino AL, et al. Role of genetic testing in inherited cardiovascular disease: a review. JAMA Cardiol. 2017;2:1153-1160. doi: 10.1001/jamacardio.2017.2352
-
(2017)
JAMA Cardiol.
, vol.2
, pp. 1153-1160
-
-
Cirino, A.L.1
-
8
-
-
85048581688
-
Genetic evaluation of cardiomyopathy: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
-
ACMG Professional Practice and Guidelines Committee
-
Hershberger RE, et al; ACMG Professional Practice and Guidelines Committee. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018;20:899-909. doi: 10.1038/s41436-018-0039-z
-
(2018)
Genet Med.
, vol.20
, pp. 899-909
-
-
Hershberger, R.E.1
-
9
-
-
84982187833
-
Genetic misdiagnoses and the potential for health disparities
-
Manrai AK, et al. Genetic misdiagnoses and the potential for health disparities. N Engl J Med. 2016;375:655-665. doi: 10.1056/NEJMsa1507092
-
(2016)
N Engl J Med.
, vol.375
, pp. 655-665
-
-
Manrai, A.K.1
-
10
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
ACMG Laboratory Quality Assurance Committee
-
Richards S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-424. doi: 10.1038/gim.2015.30
-
(2015)
Genet Med.
, vol.17
, pp. 405-424
-
-
Richards, S.1
-
11
-
-
85044572143
-
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: Recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel
-
Kelly MA, et al. Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel. Genet Med. 2018;20:351-359. doi: 10.1038/gim.2017.218
-
(2018)
Genet Med.
, vol.20
, pp. 351-359
-
-
Kelly, M.A.1
-
12
-
-
85011933920
-
Reassessment of Mendelian gene pathogenicity using 7, 855 cardiomyopathy cases and 60, 706 reference samples
-
Walsh R, et al. Reassessment of Mendelian gene pathogenicity using 7, 855 cardiomyopathy cases and 60, 706 reference samples. Genet Med. 2017;19:192-203. doi: 10.1038/gim.2016.90
-
(2017)
Genet Med.
, vol.19
, pp. 192-203
-
-
Walsh, R.1
-
13
-
-
84898418042
-
Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: Importance of periodic reassessment
-
Das KJ, et al. Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genet Med. 2014;16:286-293.
-
(2014)
Genet Med.
, vol.16
, pp. 286-293
-
-
Das, K.J.1
-
14
-
-
85032916621
-
Care in specialized centers and data sharing increase agreement in hypertrophic cardiomyopathy genetic test interpretation
-
Furqan A, et al. Care in specialized centers and data sharing increase agreement in hypertrophic cardiomyopathy genetic test interpretation. Circ Cardiovasc Genet. 2017;10:e001700. doi: 10.1161/CIRCGENETICS.116.001700
-
(2017)
Circ Cardiovasc Genet.
, vol.10
, pp. e001700
-
-
Furqan, A.1
-
15
-
-
85019602549
-
Evaluating the clinical validity of gene-disease associations: An evidence-based framework developed by the clinical genome resource
-
Strande NT, et al. Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource. Am J Hum Genet. 2017;100:895-906. doi: 10.1016/j.ajhg. 2017.04.015
-
(2017)
Am J Hum Genet.
, vol.100
, pp. 895-906
-
-
Strande, N.T.1
-
16
-
-
84930526399
-
ClinGen-The Clinical Genome Resource
-
ClinGen
-
Rehm HL, et al; ClinGen. ClinGen-the Clinical Genome Resource. N Engl J Med. 2015;372:2235-2242. doi: 10.1056/NEJMsr1406261
-
(2015)
N Engl J Med.
, vol.372
, pp. 2235-2242
-
-
Rehm, H.L.1
-
17
-
-
84976904305
-
ClinVar: Public archive of interpretations of clinically relevant variants
-
Landrum MJ, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016;44(D1):D862-D868. doi: 10.1093/nar/gkv1222
-
(2016)
Nucleic Acids Res.
, vol.44
, pp. D862-D868
-
-
Landrum, M.J.1
-
18
-
-
84867736080
-
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy
-
van der Zwaag PA, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail. 2012;14:1199-1207. doi: 10.1093/eurjhf/hfs119
-
(2012)
Eur J Heart Fail.
, vol.14
, pp. 1199-1207
-
-
Vander Zwaag, P.A.1
-
19
-
-
77649218547
-
Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: A genome-wide analysis
-
Chiu C, et al. Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis. J Am Coll Cardiol. 2010;55:1127-1135. doi: 10.1016/j.jacc.2009.11.016
-
(2010)
J Am Coll Cardiol.
, vol.55
, pp. 1127-1135
-
-
Chiu, C.1
-
20
-
-
84925845451
-
Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: A massively parallel sequencing study
-
Girolami F, et al. Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study. Circ Cardiovasc Genet. 2014;7:741-750. doi: 10.1161/CIRCGENETICS.113.000486
-
(2014)
Circ Cardiovasc Genet.
, vol.7
, pp. 741-750
-
-
Girolami, F.1
-
21
-
-
84944686135
-
Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death
-
Boczek NJ, et al. Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death. Circ Arrhythm Electrophysiol. 2015;8:1122-1132. doi: 10.1161/CIRCEP.115.002745
-
(2015)
Circ Arrhythm Electrophysiol.
, vol.8
, pp. 1122-1132
-
-
Boczek, N.J.1
-
22
-
-
80052620743
-
Desmin-related myopathy
-
van Spaendonck-Zwarts KY, et al. Desmin-related myopathy. Clin Genet. 2011;80:354-366. doi: 10.1111/j.1399-0004.2010.01512.x
-
(2011)
Clin Genet.
, vol.80
, pp. 354-366
-
-
Van Spaendonck-Zwarts, K.Y.1
-
23
-
-
77649302442
-
Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation
-
Knoblauch H, et al. Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation. Ann Neurol. 2010;67:136-140. doi: 10.1002/ana.21839
-
(2010)
Ann Neurol.
, vol.67
, pp. 136-140
-
-
Knoblauch, H.1
-
24
-
-
85018726104
-
Screening of the Filamin C gene in a large cohort of hypertrophic cardiomyopathy patients
-
Gomez J, et al. Screening of the Filamin C gene in a large cohort of hypertrophic cardiomyopathy patients. Circ Cardiovasc Genet. 2017;10:e001584. doi: 10.1161/CIRCGENETICS.116.001584
-
(2017)
Circ Cardiovasc Genet.
, vol.10
, pp. e001584
-
-
Gomez, J.1
-
25
-
-
84923331970
-
Mutations in Filamin C cause a new form of familial hypertrophic cardiomyopathy
-
Valdés-Mas R, et al. Mutations in Filamin C cause a new form of familial hypertrophic cardiomyopathy. Nat Commun. 2014;5:5326. doi: 10.1038/ncomms6326
-
(2014)
Nat Commun.
, vol.5
, pp. 5326
-
-
Valdés-Mas, R.1
-
26
-
-
85054687829
-
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
-
Nov
-
Grant AR, et al. Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework. Hum Mutat. 2018 Nov;39(11):1485-1493.
-
(2018)
Hum Mutat.
, vol.39
, Issue.11
, pp. 1485-1493
-
-
Grant, A.R.1
-
27
-
-
84973460050
-
Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy
-
Almomani R, et al. Biallelic truncating mutations in ALPK3 cause severe pediatric cardiomyopathy. J Am Coll Cardiol. 2016;67:515-525. doi: 10.1016/j.jacc.2015.10.093
-
(2016)
J Am Coll Cardiol.
, vol.67
, pp. 515-525
-
-
Almomani, R.1
-
28
-
-
84994441567
-
The promise and peril of precision medicine: Phenotyping still matters most [published online October 8, 2016]
-
Ackerman JP, et al. The promise and peril of precision medicine: phenotyping still matters most [published online October 8, 2016]. Mayo Clin Proc. 10.1016/j.mayocp.2016.08.008
-
Mayo Clin Proc.
-
-
Ackerman, J.P.1
-
29
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
MacArthur DG, et al. Guidelines for investigating causality of sequence variants in human disease. Nature. 2014;508:469-476. doi: 10.1038/nature13127
-
(2014)
Nature.
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
-
30
-
-
85028908595
-
Using high-resolution variant frequencies to empower clinical genome interpretation
-
Whiffin N, et al. Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med. 2017;19:1151-1158. doi: 10.1038/gim.2017.26
-
(2017)
Genet Med.
, vol.19
, pp. 1151-1158
-
-
Whiffin, N.1
-
31
-
-
85054465415
-
CardioClassifier: Disease- and gene-specific computational decision support for clinical genome interpretation
-
Whiffin N, et al. CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation. Genet Med. 2018;20:1246-1254. doi: 10.1038/gim.2017.258
-
(2018)
Genet Med.
, vol.20
, pp. 1246-1254
-
-
Whiffin, N.1
|