Publications by authors named "Emma Singer"

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Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).
Julia C Isbister, Marina Strocchi, Matthew Riedy, Laura Yeates, Belinda Gray, Emma S Singer

Heart Rhythm· November 2025

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Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
Yuchen Chang, Emma M Rath, Magdalena Soka, Emma S Singer, Gunjan Trivedi

Genet Med· October 2025

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The Spatial Patterning of Recent Emergency Medical Treatment and Labor Act Violations in the United States.
Arrianna Marie Planey, Emma Singer, Jodi A Lewis, Jonathan Shaffer

Ann Emerg Med· September 2025

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Clinical Validity of Autosomal Dominant Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.
Sophie Hespe, Emma S Singer, Chloe Reuter, Brittney Murray, Elizabeth Jordan

Circ Genom Precis Med· June 2025

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Generation of an isogenic CRISPR/Cas9-corrected control induced pluripotent stem cell line from a patient with autosomal dominant catecholaminergic polymorphic ventricular tachycardia with a heterozygous variant in cardiac calsequestrin-2.
Ginell N Ranpura, Mira Holliday, Serena Li, Samantha B Ross, Emma S Singer

Stem Cell Res· March 2025

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Echocardiograms and bed placement in patients with multisystem inflammatory syndrome in children.
Hafsa Lodhi, Emma Singer, Mary Claire McGlynn, Jinli Wang, Erik Hoefgen

Transl Pediatr· August 2024

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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.
Emma S Singer, Joshua Crowe, Mira Holliday, Julia C Isbister, Sean Lal

NPJ Genom Med· October 2023

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Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.
Serena Li, Stuart Fraser, Ginell Ranpura, Seakcheng Lim, Emma S Singer

Stem Cell Res· September 2023

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Genetic Basis of Childhood Cardiomyopathy.
Richard D Bagnall, Emma S Singer, Julie Wacker, Natalie Nowak, Jodie Ingles

Circ Genom Precis Med· December 2022

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Splicing Functional Assays Into the Genetic Testing Pipeline.
Emma S Singer, Richard D Bagnall

Circ Genom Precis Med· December 2022

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The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.
Fergus Stafford, Neesha Krishnan, Ebony Richardson, Alexandra Butters, Sophie Hespe, Emma S Singer

Genome Med· December 2022

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Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families.
Julia C Isbister, Natalie Nowak, Laura Yeates, Emma S Singer, Raymond W Sy

J Am Coll Cardiol· November 2022

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Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in .
Mira Holliday, Emma S Singer, Samantha B Ross, Seakcheng Lim, Sean Lal

Circ Genom Precis Med· April 2021

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Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.
Emma S Singer, Samantha B Ross, Jon R Skinner, Robert G Weintraub, Jodie Ingles

Genet Med· January 2021

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Genetic architecture of left ventricular noncompaction in adults.
Samantha Barratt Ross, Emma S Singer, Elizabeth Driscoll, Natalie Nowak, Laura Yeates

Hum Genome Var· October 2020

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Sudden Cardiac Death in the Young.
Richard D Bagnall, Emma S Singer, Jacob Tfelt-Hansen

Heart Lung Circ· April 2020

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Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.
Emma S Singer, Jodie Ingles, Christopher Semsarian, Richard D Bagnall

Circ Genom Precis Med· January 2019

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Plau and Tgfbr3 are YAP-regulated genes that promote keratinocyte proliferation.
Susan M Corley, Veronica Mendoza-Reinoso, Nichole Giles, Emma Suwanun Singer, John E Common

Cell Death Dis· October 2018

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