The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing | Zendy

Trevor J. Pugh | Zendy; Melissa Kelly | Zendy; Sivakumar Gowrisankar | Zendy; Elizabeth Hynes | Zendy; Michael A. Seidman | Zendy; Samantha Baxter | Zendy; Mark Bowser | Zendy; Bryan D. Harrison | Zendy; Daniel Aaron | Zendy; Lisa Mahanta | Zendy; Neal K. Lakdawala | Zendy; Gregory McDermott | Zendy; Emily White | Zendy; Heidi L. Rehm | Zendy; Matthew S. Lebo | Zendy; Birgit Funke | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

Author(s) -

Trevor J. Pugh,

Melissa Kelly,

Sivakumar Gowrisankar,

Elizabeth Hynes,

Michael A. Seidman,

Samantha Baxter,

Mark Bowser,

Bryan D. Harrison,

Daniel Aaron,

Lisa Mahanta,

Neal K. Lakdawala,

Gregory McDermott,

Emily White,

Heidi L. Rehm,

Matthew S. Lebo,

Birgit Funke

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.204

Subject(s) - dilated cardiomyopathy , cardiomyopathy , gene , locus (genetics) , medicine , genetics , titin , allelic heterogeneity , genetic heterogeneity , disease , genetic testing , bioinformatics , biology , heart failure , phenotype , sarcomere , myocyte

Dilated cardiomyopathy is characterized by substantial locus, allelic, and clinical heterogeneity that necessitates testing of many genes across clinically overlapping diseases. Few studies have sequenced sufficient individuals; thus, the contributions of individual genes and the pathogenic variant spectrum are still poorly defined. We analyzed 766 dilated cardiomyopathy patients tested over 5 years in our molecular diagnostics laboratory.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research