Emma S. Singer

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 17 publications

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome.

Journal: Frontiers in cardiovascular medicine
Published: December 11, 2025

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine
Published: April 21, 2025

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 20, 2025

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.

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.

Journal: Stem cell research
Published: October 14, 2024

Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).

Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS).

Journal: Heart rhythm
Published: June 19, 2024

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.

Journal: NPJ genomic medicine
Published: May 11, 2023

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.

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.

Journal: Stem cell research
Published: May 01, 2023

Splicing Functional Assays Into the Genetic Testing Pipeline.

Splicing Functional Assays Into the Genetic Testing Pipeline.

Journal: Circulation. Genomic and precision medicine
Published: November 09, 2022

Genetic Basis of Childhood Cardiomyopathy.

Genetic Basis of Childhood Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine
Published: October 17, 2022

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.

Journal: Genome medicine
Published: June 21, 2022

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

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

Journal: Journal of the American College of Cardiology
Published: May 27, 2022

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.

Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3.

Journal: Circulation. Genomic and precision medicine
Published: March 03, 2021
Showing 1-12 of 17

Last Updated: 09/26/2026