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Emma S. Singer

Observed names: E S Singer, E. Singer, Emma S Singer, Emma Singer, Emma Suwanun Singer
ORCID: 0000-0003-0264-3395
Observed ORCID: 0000-0003-0264-3395
OpenAlex ID: A5049585381
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 97
Genetic Basis of Childhood Cardiomyopathy
2022 · Richard D. Bagnall, Emma S. Singer, et al. · Circulation Genomic and Precision Medicine · 67
Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families
2022 · Julia C. Isbister, Natalie Nowak, et al. · Journal of the American College of Cardiology · 60
Genetic architecture of left ventricular noncompaction in adults
2020 · Samantha Barratt Ross, Emma S. Singer, et al. · Human Genome Variation · 44
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Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy
2019 · Emma S. Singer, Jodie Ingles, et al. · Circulation Genomic and Precision Medicine · 39
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic
2022 · Fergus Stafford, Neesha Krishnan, et al. · Genome Medicine · 33
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Plau and Tgfbr3 are YAP-regulated genes that promote keratinocyte proliferation
2018 · Susan M. Corley, Veronica Mendoza-Reinoso, et al. · Cell Death and Disease · 33
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Sudden Cardiac Death in the Young
2019 · Richard D. Bagnall, Emma S. Singer, et al. · Heart Lung and Circulation · 30
Transcriptome Sequencing of Patients With Hypertrophic Cardiomyopathy Reveals Novel Splice-Altering Variants in MYBPC3
2021 · Mira Holliday, Emma S. Singer, et al. · Circulation Genomic and Precision Medicine · 29
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death
2020 · Emma S. Singer, Samantha B. Ross, et al. · Genetics in Medicine · 29
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
2025 · Renee Johnson, Robert A Fletcher, et al. · European Heart Journal · 20
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The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
2023 · Emma S. Singer, Joshua Crowe, et al. · npj Genomic Medicine · 15
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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
2024 · Rachel Austin, Jaye S. Brown, et al. · Genetics in Medicine Open · 9
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
2023 · Serena Li, Stuart Fraser, et al. · Stem Cell Research · 5
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy
2025 · Sophie Hespe, Emma S. Singer, et al. · Circulation Genomic and Precision Medicine · 3
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Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses
2025 · Yuchen Chang, Emma M. Rath, et al. · Genetics in Medicine · 1
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
2024 · Ginell N. Ranpura, Mira Holliday, et al. · Stem Cell Research · 1
Case Report: Deletion in the 5' untranslated region of TAFAZZIN in a boy with Barth syndrome
2026 · Emma S. Singer, Janine Smith, et al. · Frontiers in Cardiovascular Medicine
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SCN5A U12‐Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease
2026 · Emma S. Singer, Serena Li, et al. · Human Mutation
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Noninvasive assessment of hydroquinidine effect in Brugada syndrome (QUIET BrS)
2024 · Julia C. Isbister, Marina Strocchi, et al. · Heart Rhythm
Tiered Analysis of Australian Genomics Cardiovascular Genetic Disorders Flagship Genomes Increases the Diagnostic Yield of Genetic Testing
2024 · Y. Chang, E. Rath, et al. · Heart Lung and Circulation
Splicing Functional Assays Into the Genetic Testing Pipeline
2022 · Emma S. Singer, Richard D. Bagnall · Circulation Genomic and Precision Medicine
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“Concealed cardiomyopathy” is an important cause of autopsy-inconclusive sudden cardiac death and diagnosis impacts care of surviving relatives
2022 · J C Isbister, N Nowak, et al. · European Heart Journal
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The Role of Genetic Testing in Diagnosis and Care of Inherited Cardiac Conditions in a Specialised Multidisciplinary Clinic
2022 · N. Krishnan, F. Stafford, et al. · Heart Lung and Circulation
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Genetic Basis of Childhood Cardiomyopathy
2022 · R. Bagnall, E. Singer, et al. · Heart Lung and Circulation
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Works count: 28
Citation count: 513
H-index: 12
I10-index: 12
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