Publications by authors named "Richard D Bagnall"

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Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Renee Johnson, Robert A Fletcher, Stacey Peters, Monique Ohanian, Magdalena Soka, Richard D Bagnall

Eur Heart J· December 2025

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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, Richard D Bagnall

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, Richard D Bagnall

Genet Med· October 2025

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SUDEP risk is influenced by longevity genomics: a polygenic risk score study.
Helena Martins, James D Mills, Susanna Pagni, Medine I Gulcebi, Angeliki Vakrinou, Richard D Bagnall

EBioMedicine· August 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, Richard D Bagnall

Circ Genom Precis Med· June 2025

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A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Alexandra Butters, Kate Thomson, Franki Harrington, Natasha Henden, Karen McGuire, Richard D Bagnall

Eur Heart J· April 2025

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Predicting the impact of rare variants on RNA splicing in CAGI6.
Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Richard D Bagnall

Hum Genet· March 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, Richard D Bagnall

Stem Cell Res· March 2025

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An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten.
Lisa Leinhos, Paul Robinson, Giulia Poloni, Sophie Broadway-Stringer, Julia Beglov, Richard D Bagnall

Sci Rep· March 2025

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Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Richard D Bagnall

J Am Coll Cardiol· February 2025

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ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Richard D Bagnall

medRxiv· July 2024

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Transcription Factors Leave Their Mark on the Heart.
Yuchen Chang, Mathias Francois, Richard D Bagnall

Circ Genom Precis Med· April 2024

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A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Rachel Austin, Jaye S Brown, Sarah Casauria, Evanthia O Madelli, Tessa Mattiske, Richard D Bagnall

Genet Med Open· March 2024

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loss-of-function variants in families with left ventricular non-compaction cardiomyopathy.
Yuchen Chang, Julie Wacker, Jodie Ingles, Ivan Macciocca, Ingrid King, Richard D Bagnall

J Med Genet· January 2024

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A case series of patients with filamin-C truncating variants attending a specialized cardiac genetic clinic.
Sophie Hespe, Julia C Isbister, Johan Duflou, Raj Puranik, Richard D Bagnall

Eur Heart J Case Rep· December 2023

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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, Richard D Bagnall

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, Richard D Bagnall

Stem Cell Res· September 2023

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The New South Wales Sudden Cardiac Arrest Registry: A Data Linkage Cohort Study.
Felicity Leslie, Suzanne R Avis, Richard D Bagnall, Jason Bendall, Tom Briffa

Heart Lung Circ· September 2023

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ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy.
Richard D Bagnall, Piero Perucca,

Epileptic Disord· August 2023

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Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Kaveh Rayani, Brianna Davies, Matthew Cheung, Drake Comber, Jason D Roberts, Richard D Bagnall

Eur J Hum Genet· May 2023

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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin () Truncating Variant.
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Richard D Bagnall

Circ Genom Precis Med· February 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, Richard D Bagnall

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, Richard D Bagnall

J Am Coll Cardiol· November 2022

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