(Q39023719)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

title

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

hypertrophic cardiomyopathy

9 April 2020

main subject

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Roddy Walsh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Rachel Buchan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Kate Thomson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Hugh Christian Watkins

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

James Ware

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

author name string

Alicja Wilk

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Shibu John

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Leanne E Felkin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Tang Hak Chiaw

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Calvin Chin Woon Loong

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Chee Jian Pua

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Claire Raphael

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Sanjay Prasad

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Birgit Funke

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Stuart A Cook

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

publication date

1 December 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

published in

European Heart Journal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

issue

46

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

page(s)

3461-3468

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

Analysis of protein-coding genetic variation in 60,706 humans

9 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

ClinGen--the Clinical Genome Resource

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

ClinVar: public archive of relationships among sequence variation and human phenotype

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Population-based variation in cardiomyopathy genes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Hypertrophic cardiomyopathy: a systematic review

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5837460

Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1

21 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28082330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/28082330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/EURHEARTJ/EHW603

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

release_22tedboce5hclgkmh6b2wbsknm

9 April 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/22tedboce5hclgkmh6b2wbsknm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28082330%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

PubMed publication ID

28082330

1 reference