NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes-Reference-Cited by-同舟云学术

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NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes

Published:2018-05-16 Issue:7 Volume:39 Page:954-958
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Ceyhan-Birsoy Ozge¹²,Miatkowski Maya M¹,Hynes Elizabeth¹,Funke Birgit H¹³,Mason-Suares Heather¹⁴^ORCID

Affiliation:

1. Laboratory for Molecular Medicine; Partners HealthCare Personalized Medicine; Cambridge Massachusetts

2. Department of Pathology; Memorial Sloan Kettering Cancer Center; New York New York

3. Department of Pathology; Massachusetts General Hospital and Harvard Medical School; Boston Massachusetts

4. Department of Pathology; Brigham and Women's Hospital and Harvard Medical School; Boston Massachusetts

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy;Anan;Journal of Clinical Investigation,1994

2. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome;Aoki;American Journal of Human Genetics,2013

3. Recent advances in RASopathies;Aoki;Journal of Human Genetics,2016

4. Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies;Ceyhan-Birsoy;Molecular Genetics and Genomic Medicine,2016

5. RAF1 mutations in childhood-onset dilated cardiomyopathy;Dhandapany;Nature Genetics,2014

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow;Frontiers in Cardiovascular Medicine;2023-07-31

2. Genetics in Cardiomyopathies – Genetic Tests Decoded for the Clinical Cardiologist;ABC: Heart Failure & Cardiomyopathy;2023

3. Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients;BMC Cardiovascular Disorders;2021-03-05

4. SOS1 Gain-of-Function Variants in Dilated Cardiomyopathy;Circulation: Genomic and Precision Medicine;2020-08

5. Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?;Forensic Science International: Genetics;2020-07

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