|
1
|
Maron BJ, Maron MS and Semsarian C:
Genetics of hypertrophic cardiomyopathy after 20 years: Clinical
perspectives. J Am Coll Cardiol. 60:705–715. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Maron BJ and Maron MS: Hypertrophic
cardiomyopathy. Lancet. 381:242–255. 2013. View Article : Google Scholar
|
|
3
|
Ho CY, Charron P, Richard P, Girolami F,
Van Spaendonck-Zwarts KY and Pinto Y: Genetic advances in
sarcomeric cardio-myopathies: State of the art. Cardiovasc Res.
105:397–408. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Watkins H, Anan R, Coviello DA, Spirito P,
Seidman JG and Seidman CE: A de novo mutation in alpha-tropomyosin
that causes hypertrophic cardiomyopathy. Circulation. 91:2302–2305.
1995. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Casali C, d'Amati G, Bernucci P, DeBiase
L, Autore C, Santorelli FM, Coviello D and Gallo P: Maternally
inherited cardiomyopathy: Clinical and molecular characterization
of a large kindred harboring the A4300G point mutation in
mitochondrial deoxyribonucleic acid. J Am Coll Cardiol.
33:1584–1589. 1999. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Hagen CM, Aidt FH, Havndrup O, Hedley PL,
Jensen MK, Kanters JK, Pham TT, Bundgaard H and Christiansen M:
Private mitochondrial DNA variants in danish patients with
hypertrophic cardiomyopathy. PLoS One. 10:e01245402015. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Siegert R, Perrot A, Keller S, Behlke J,
Michalewska-Włudarczyk A, Wycisk A, Tendera M, Morano I and Ozcelik
C: A myomesin mutation associated with hypertrophic cardiomyopathy
deteriorates dimerisation properties. Biochem Biophys Res Commun.
405:473–479. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Osio A, Tan L, Chen SN, Lombardi R, Nagueh
SF, Shete S, Roberts R, Willerson JT and Marian AJ: Myozenin 2 is a
novel gene for human hypertrophic cardiomyopathy. Circ Res.
100:766–768. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Arimura T, Bos JM, Sato A, Kubo T, Okamoto
H, Nishi H, Harada H, Koga Y, Moulik M, Doi YL, et al: Cardiac
ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic
cardiomyopathy. J Am Coll Cardiol. 54:334–342. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Vasile VC, Ommen SR, Edwards WD and
Ackerman MJ: A missense mutation in a ubiquitously expressed
protein, vinculin, confers susceptibility to hypertrophic
cardiomyopathy. Biochem Biophys Res Commun. 345:998–1003. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Chiu C, Tebo M, Ingles J, Yeates L, Arthur
JW, Lind JM and Semsarian C: Genetic screening of calcium
regulation genes in familial hypertrophic cardiomyopathy. J Mol
Cell Cardiol. 43:337–343. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Hayashi T, Arimura T, Ueda K, Shibata H,
Hohda S, Takahashi M, Hori H, Koga Y, Oka N, Imaizumi T, et al:
Identification and functional analysis of a caveolin-3 mutation
associated with familial hypertrophic cardiomyopathy. Biochem
Biophys Res Commun. 313:178–184. 2004. View Article : Google Scholar
|
|
13
|
Gersh BJ, Maron BJ, Bonow RO, Dearani JA,
Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, et
al American College of Cardiology Foundation/American Heart
Association Task Force on Practice Guidelines; 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; Society of Thoracic Surgeons: 2011
ACCF/AHA guideline for the diagnosis and treatment of hypertrophic
cardiomyopathy: executive summary: a report of the American College
of Cardiology Foundation/American Heart Association Task Force on
Practice Guidelines. Circulation. 124:2761–2796. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Ingles J, Sarina T, Yeates L, Hunt L,
Macciocca I, McCormack L, Winship I, McGaughran J, Atherton J and
Semsarian C: Clinical predictors of genetic testing outcomes in
hypertrophic cardiomyopathy. Genet Med. 15:972–977. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Meder B, Haas J, Keller A, Heid C, Just S,
Borries A, Boisguerin V, Scharfenberger-Schmeer M, Stähler P, Beier
M, et al: Targeted next-generation sequencing for the molecular
genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet.
4:110–122. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Zou Y, Wang J, Liu X, Wang Y, Chen Y, Sun
K, Gao S, Zhang C, Wang Z, Zhang Y, et al: Multiple gene mutations,
not the type of mutation, are the modifier of left ventricle
hypertrophy in patients with hypertrophic cardiomyopathy. Mol Biol
Rep. 40:3969–3976. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Biagini E, Olivotto I, Iascone M, Parodi
MI, Girolami F, Frisso G, Autore C, Limongelli G, Cecconi M, Maron
BJ, et al: Significance of sarcomere gene mutations analysis in the
end-stage phase of hypertrophic cardiomyopathy. Am J Cardiol.
114:769–776. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Roberts WC, Roberts CC, Ko JM, Grayburn
PA, Tandon A, Kuiper JJ, Capehart JE and Hall SA: Dramatically
different phenotypic expressions of hypertrophic cardiomyopathy in
male cousins undergoing cardiac transplantation with identical
disease-causing gene mutation. Am J Cardiol. 111:1818–1822. 2013.
View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Landstrom AP and Ackerman MJ: Mutation
type is not clinically useful in predicting prognosis in
hypertrophic cardiomyopathy. Circulation. 122:2441–2450. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
20
|
von Bubnoff A: Next-generation sequencing:
The race is on. Cell. 132:721–723. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Churko JM, Mantalas GL, Snyder MP and Wu
JC: Overview of high throughput sequencing technologies to
elucidate molecular pathways in cardiovascular diseases. Circ Res.
112:1613–1623. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Lopes LR, Syrris P, Guttmann OP, O'Mahony
C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L,
McKenna WJ, et al: Novel genotype-phenotype associations
demonstrated by high-throughput sequencing in patients with
hypertrophic cardio-myopathy. Heart. 101:294–301. 2015. View Article : Google Scholar
|
|
23
|
Morinière V, Dahan K, Hilbert P, Lison M,
Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E,
et al: Improving mutation screening in familial hematuric
nephropathies through next generation sequencing. J Am Soc Nephrol.
25:2740–2751. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Pasmant E, Parfait B, Luscan A, Goussard
P, Briand-Suleau A, Laurendeau I, Fouveaut C, Leroy C, Montadert A,
Wolkenstein P, et al: Neurofibromatosis type 1 molecular diagnosis:
What can NGS do for you when you have a large gene with loss of
function mutations? Eur J Hum Genet. 23:596–601. 2015. View Article : Google Scholar :
|
|
25
|
Spirito P, Autore C, Rapezzi C, Bernabò P,
Badagliacca R, Maron MS, Bongioanni S, Coccolo F, Estes NA, Barillà
CS, et al: Syncope and risk of sudden death in hypertrophic
cardio-myopathy. Circulation. 119:1703–1710. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Authors/Task Force members; Elliott PM,
Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege
AA, Lafont A, Limongelli G, Mahrholdt H, 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. 35:2733–2779. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Rapezzi C, Arbustini E, Caforio AL,
Charron P, Gimeno-Blanes J, Heliö T, Linhart A, Mogensen J, Pinto
Y, Ristic A, et al: Diagnostic work-up in cardiomyopathies:
Bridging the gap between clinical phenotypes and final diagnosis. A
position statement from the ESC Working Group on Myocardial and
Pericardial Diseases. Eur Heart J. 34:1448–1458. 2013. View Article : Google Scholar
|
|
28
|
Thorvaldsdóttir H, Robinson JT and Mesirov
JP: Integrative Genomics Viewer (IGV): High-performance genomics
data visualization and exploration. Brief Bioinform. 14:178–192.
2013. View Article : Google Scholar :
|
|
29
|
Stenson PD, Mort M, Ball EV, Shaw K,
Phillips A and Cooper DN: The Human Gene Mutation Database:
Building a comprehensive mutation repository for clinical and
molecular genetics, diagnostic testing and personalized genomic
medicine. Hum Genet. 133:1–9. 2014. View Article : Google Scholar :
|
|
30
|
Voelkerding KV, Dames S and Durtschi JD:
Next generation sequencing for clinical diagnostics-principles and
application to targeted resequencing for hypertrophic
cardiomyopathy: A paper from the 2009 William Beaumont Hospital
Symposium on Molecular Pathology. J Mol Diagn. 12:539–551. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Quail MA, Smith M, Coupland P, Otto TD,
Harris SR, Connor TR, Bertoni A, Swerdlow HP and Gu Y: A tale of
three next generation sequencing platforms: Comparison of Ion
Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC
Genomics. 13:3412012. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Gómez J, Reguero JR, Morís C, Martín M,
Alvarez V, Alonso B, Iglesias S and Coto E: Mutation analysis of
the main hypertrophic cardiomyopathy genes using multiplex
amplification and semiconductor next-generation sequencing. Circ J.
78:2963–2971. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Lopes LR, Zekavati A, Syrris P, Hubank M,
Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W, Plagnol V
and Elliott PM; Uk10k Consortium: Genetic complexity in
hypertrophic cardiomyopathy revealed by high-throughput sequencing.
J Med Genet. 50:228–239. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Cheng Z, Cui Q, Tian Z, Xie H, Chen L,
Fang L, Zhu K and Fang Q: Danon disease as a cause of concentric
left ventricular hypertrophy in patients who underwent
endomyocardial biopsy. Eur Heart J. 33:649–656. 2012. View Article : Google Scholar
|
|
35
|
Bos JM, Will ML, Gersh BJ, Kruisselbrink
TM, Ommen SR and Ackerman MJ: Characterization of a phenotype-based
genetic test prediction score for unrelated patients with
hypertrophic cardiomyopathy. Mayo Clin Proc. 89:727–737. 2014.
View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Olivotto I, Girolami F, Ackerman MJ,
Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F,
et al: Myofilament protein gene mutation screening and outcome of
patients with hypertrophic cardiomyopathy. Mayo Clin Proc.
83:630–638. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg
JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR and Lyon E;
Working Group of the American College of Medical Genetics and
Genomics Laboratory Quality Assurance Commitee: ACMG clinical
laboratory standards for next-generation sequencing. Genet Med.
15:733–747. 2013. View Article : Google Scholar : PubMed/NCBI
|
