Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

10.1136/heartjnl-2014-306387

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Main Authors:	Lopes, L.R, Syrris, P, Guttmann, O.P, O'Mahony, C, Tang, H.C, Dalageorgou, C, Jenkins, S, Hubank, M, Monserrat, L, McKenna, W.J, Plagnol, V, Elliott, P.M
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	BMJ Publishing Group 2020
Subjects:	adolescent adult age distribution aged ANK2 gene Article cardiovascular mortality child clinical examination controlled study family history female gene gene mutation genetic analysis genetic association genetic variability genotype phenotype correlation heart ventricle hypertrophy high throughput sequencing human hypertrophic cardiomyopathy incidence major clinical study male overall survival preschool child prevalence prospective study school child sex difference SP gene sudden cardiac death very elderly age Cardiomyopathy, Hypertrophic, Familial Death, Sudden, Cardiac dna mutational analysis England genetic association study genetic predisposition genetics Kaplan Meier method middle aged mortality mutation pedigree phenotype predictive value procedures retrospective study risk factor young adult muscle protein Adolescent Adult Age Factors Aged Aged, 80 and over Child DNA Mutational Analysis Female Genetic Association Studies Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Kaplan-Meier Estimate London Male Middle Aged Muscle Proteins Mutation Pedigree Phenotype Predictive Value of Tests Retrospective Studies Risk Factors Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/180087
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1800872023-11-01T08:50:11Z Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy Lopes, L.R Syrris, P Guttmann, O.P O'Mahony, C Tang, H.C Dalageorgou, C Jenkins, S Hubank, M Monserrat, L McKenna, W.J Plagnol, V Elliott, P.M DUKE-NUS MEDICAL SCHOOL adolescent adult age distribution aged ANK2 gene Article cardiovascular mortality child clinical examination controlled study family history female gene gene mutation genetic analysis genetic association genetic variability genotype phenotype correlation heart ventricle hypertrophy high throughput sequencing human hypertrophic cardiomyopathy incidence major clinical study male overall survival preschool child prevalence prospective study school child sex difference SP gene sudden cardiac death very elderly age Cardiomyopathy, Hypertrophic, Familial Death, Sudden, Cardiac dna mutational analysis England genetic association study genetic predisposition genetics Kaplan Meier method middle aged mortality mutation pedigree phenotype predictive value procedures retrospective study risk factor young adult muscle protein Adolescent Adult Age Factors Aged Aged, 80 and over Cardiomyopathy, Hypertrophic, Familial Child Death, Sudden, Cardiac DNA Mutational Analysis Female Genetic Association Studies Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Kaplan-Meier Estimate London Male Middle Aged Muscle Proteins Mutation Pedigree Phenotype Predictive Value of Tests Retrospective Studies Risk Factors Young Adult 10.1136/heartjnl-2014-306387 Heart 101 4 294-301 2020-10-26T06:51:50Z 2020-10-26T06:51:50Z 2015 Article Lopes, L.R, Syrris, P, Guttmann, O.P, O'Mahony, C, Tang, H.C, Dalageorgou, C, Jenkins, S, Hubank, M, Monserrat, L, McKenna, W.J, Plagnol, V, Elliott, P.M (2015). Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart 101 (4) : 294-301. ScholarBank@NUS Repository. https://doi.org/10.1136/heartjnl-2014-306387 1355-6037 https://scholarbank.nus.edu.sg/handle/10635/180087 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ BMJ Publishing Group Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	adolescent adult age distribution aged ANK2 gene Article cardiovascular mortality child clinical examination controlled study family history female gene gene mutation genetic analysis genetic association genetic variability genotype phenotype correlation heart ventricle hypertrophy high throughput sequencing human hypertrophic cardiomyopathy incidence major clinical study male overall survival preschool child prevalence prospective study school child sex difference SP gene sudden cardiac death very elderly age Cardiomyopathy, Hypertrophic, Familial Death, Sudden, Cardiac dna mutational analysis England genetic association study genetic predisposition genetics Kaplan Meier method middle aged mortality mutation pedigree phenotype predictive value procedures retrospective study risk factor young adult muscle protein Adolescent Adult Age Factors Aged Aged, 80 and over Cardiomyopathy, Hypertrophic, Familial Child Death, Sudden, Cardiac DNA Mutational Analysis Female Genetic Association Studies Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Kaplan-Meier Estimate London Male Middle Aged Muscle Proteins Mutation Pedigree Phenotype Predictive Value of Tests Retrospective Studies Risk Factors Young Adult
spellingShingle	adolescent adult age distribution aged ANK2 gene Article cardiovascular mortality child clinical examination controlled study family history female gene gene mutation genetic analysis genetic association genetic variability genotype phenotype correlation heart ventricle hypertrophy high throughput sequencing human hypertrophic cardiomyopathy incidence major clinical study male overall survival preschool child prevalence prospective study school child sex difference SP gene sudden cardiac death very elderly age Cardiomyopathy, Hypertrophic, Familial Death, Sudden, Cardiac dna mutational analysis England genetic association study genetic predisposition genetics Kaplan Meier method middle aged mortality mutation pedigree phenotype predictive value procedures retrospective study risk factor young adult muscle protein Adolescent Adult Age Factors Aged Aged, 80 and over Cardiomyopathy, Hypertrophic, Familial Child Death, Sudden, Cardiac DNA Mutational Analysis Female Genetic Association Studies Genetic Predisposition to Disease High-Throughput Nucleotide Sequencing Humans Kaplan-Meier Estimate London Male Middle Aged Muscle Proteins Mutation Pedigree Phenotype Predictive Value of Tests Retrospective Studies Risk Factors Young Adult Lopes, L.R Syrris, P Guttmann, O.P O'Mahony, C Tang, H.C Dalageorgou, C Jenkins, S Hubank, M Monserrat, L McKenna, W.J Plagnol, V Elliott, P.M Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
description	10.1136/heartjnl-2014-306387
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Lopes, L.R Syrris, P Guttmann, O.P O'Mahony, C Tang, H.C Dalageorgou, C Jenkins, S Hubank, M Monserrat, L McKenna, W.J Plagnol, V Elliott, P.M
format	Article
author	Lopes, L.R Syrris, P Guttmann, O.P O'Mahony, C Tang, H.C Dalageorgou, C Jenkins, S Hubank, M Monserrat, L McKenna, W.J Plagnol, V Elliott, P.M
author_sort	Lopes, L.R
title	Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
title_short	Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
title_full	Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
title_fullStr	Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
title_full_unstemmed	Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
title_sort	novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
publisher	BMJ Publishing Group
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/180087
_version_	1781792360750907392

Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

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