Emma S. Singer

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families

Julia C. Isbister, Natalie Nowak, Laura Yeates et al. · Journal of the American College of Cardiology · 2022 · 49 citations

Cardiomyopathy, Heart Failure, Structural Heart Disease +8

Genetic Basis of Childhood Cardiomyopathy

Richard D. Bagnall, Emma S. Singer, Julie Wacker et al. · Circulation Genomic and Precision Medicine · 2022 · 47 citations · Full text

Genetic architecture of left ventricular noncompaction in adults

Samantha Barratt Ross, Emma S. Singer, Elizabeth Driscoll et al. · Human Genome Variation · 2020 · 44 citations · Full text

Key Value of RNA Analysis of <i>MYBPC3</i> Splice-Site Variants in Hypertrophic Cardiomyopathy

Emma S. Singer, Jodie Ingles, Christopher Semsarian et al. · Circulation Genomic and Precision Medicine · 2019 · 37 citations · Full text