Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death
出版年份 2017 全文链接
标题
Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume 19, Issue 10, Pages 1127-1133
出版商
Springer Nature
发表日期
2017-03-24
DOI
10.1038/gim.2017.15
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
- (2016) Richard D. Bagnall et al. ANNALS OF NEUROLOGY
- Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- (2016) Roddy Walsh et al. GENETICS IN MEDICINE
- A Prospective Study of Sudden Cardiac Death among Children and Young Adults
- (2016) Richard D. Bagnall et al. NEW ENGLAND JOURNAL OF MEDICINE
- Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives
- (2015) C. Semsarian et al. EUROPEAN HEART JOURNAL
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue
- (2015) Danielle Mercatante Carrick et al. PLoS One
- Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
- (2015) Angharad M. Roberts et al. Science Translational Medicine
- Comparison of Accuracy of Whole-Exome Sequencing with Formalin-Fixed Paraffin-Embedded and Fresh Frozen Tissue Samples
- (2015) Ensel Oh et al. PLoS One
- Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
- (2014) Eliezer M Van Allen et al. NATURE MEDICINE
- Confirmation of Cause and Manner of Death Via a Comprehensive Cardiac Autopsy Including Whole Exome Next-Generation Sequencing
- (2013) Christina G. Loporcaro et al. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
- TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
- (2013) Berivan Baskin et al. HUMAN GENETICS
- The long-term risk of premature mortality in people with epilepsy
- (2011) A. Neligan et al. BRAIN
- HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
- (2011) M. J. Ackerman et al. EUROPACE
- Fast and accurate long-read alignment with Burrows–Wheeler transform
- (2010) Heng Li et al. BIOINFORMATICS
- Nationwide study of sudden cardiac death in persons aged 1–35 years
- (2010) Bo Gregers Winkel et al. EUROPEAN HEART JOURNAL
- Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
- (2010) Jonathan R. Skinner et al. HEART RHYTHM
- The Sequence Alignment/Map format and SAMtools
- (2009) H. Li et al. BIOINFORMATICS
- The magnitude of sudden cardiac death in the young: a death certificate-based review in England and Wales
- (2009) M. Papadakis et al. EUROPACE
- Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy
- (2009) David Hassel et al. NATURE MEDICINE
- Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy
- (2008) Sharie B. Parks et al. AMERICAN HEART JOURNAL
- Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene
- (2008) Nancy D. Merner et al. AMERICAN JOURNAL OF HUMAN GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More