Missing heritability for supravalvar aortic stenosis identified in long range enhancer for elastin
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Co-Author - Sara Procknow, MD, PhD; Co-Author - Kit Man Tsang, PhD; Co-Author - Teresa R. Luperchio, PhD; Co-Author - Charles Billington, Jr, MD, PhD, FACMG; Co-Author - Kara Small, MSGC; Co-Author - Angela E. Scheuerle, MD, FAAP, FACMG; Co-Author - David H. Tegay, DO; Co-Author - Patricia Fernandez-Ferri, PhD; Co-Author - Jeanne M. Meck, PhD; Presenting Author - Beth Kozel, MD, PhD, FACMG;
Meta Tag
array CGH
Bioinformatics
Cardiac/circulatory disorders
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Co-Author Sara Procknow, MD, PhD
Co-Author Kit Man Tsang, PhD
Co-Author Teresa R. Luperchio, PhD
Co-Author Charles Billington, Jr, MD, PhD, FACMG
Co-Author Kara Small, MSGC
Co-Author Angela E. Scheuerle, MD, FAAP, FACMG
Co-Author David H. Tegay, DO
Co-Author Patricia Fernandez-Ferri, PhD
Co-Author Jeanne M. Meck, PhD
Presenting Author Beth Kozel, MD, PhD, FACMG
Keywords
supravalvar aortic stenosis
genetic basis
ELN gene
chromosome 7q11.2 deletions
ELN expression
RNA sequencing
long read DNA sequencing
regulatory elements
ENCODE database
GeneHancer database

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