Cargando…

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

There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting...

Descripción completa

Detalles Bibliográficos
Autores principales:	Singer, Emma S., Crowe, Joshua, Holliday, Mira, Isbister, Julia C., Lal, Sean, Nowak, Natalie, Yeates, Laura, Burns, Charlotte, Rajagopalan, Sulekha, Macciocca, Ivan, King, Ingrid, Wacker, Julie, Ingles, Jodie, Weintraub, Robert G., Semsarian, Christopher, Bagnall, Richard D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567745/ https://www.ncbi.nlm.nih.gov/pubmed/37821546 http://dx.doi.org/10.1038/s41525-023-00373-w

Ejemplares similares

Genetic architecture of left ventricular noncompaction in adults
por: Ross, Samantha Barratt, et al.
Publicado: (2020)

The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic
por: Stafford, Fergus, et al.
Publicado: (2022)

Needs analysis of parents following sudden cardiac death in the young
por: McDonald, Kristie, et al.
Publicado: (2020)

Molecular autopsy in victims of inherited arrhythmias
por: Semsarian, Christopher, et al.
Publicado: (2016)

Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial
por: Burns, Charlotte, et al.
Publicado: (2019)

Routinely collected health data to study inherited heart disease: a systematic review (2000–2016)
por: Blanch, Bianca, et al.
Publicado: (2017)

Using codesign focus groups to develop an online COmmunity suPporting familiEs after Sudden Cardiac Death (COPE-SCD) in the young
por: Yeates, Laura, et al.
Publicado: (2022)

Genetic Basis of Sudden Unexpected Death in Epilepsy
por: Bagnall, Richard D., et al.
Publicado: (2017)

Relations between right ventricular morphology and clinical, electrical and genetic parameters in Brugada Syndrome
por: Gray, Belinda, et al.
Publicado: (2018)

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest()
por: Lam, Lien, et al.
Publicado: (2015)

LAMP2 shines a light on cardiomyopathy in an athlete
por: Martin, Sophie, et al.
Publicado: (2017)

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families
por: Stiles, Martin K., et al.
Publicado: (2021)

2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families
por: Stiles, Martin K., et al.
Publicado: (2020)

Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results
por: Smagarinsky, Yana, et al.
Publicado: (2017)

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy
por: Oomen, Ad W.G.J., et al.
Publicado: (2018)

Sudden Cardiac Arrest in the Paediatric Population
por: Franciosi, Sonia, et al.
Publicado: (2022)

Sudden unexplained death due to cardiac arrest
por: Precone, Vincenza, et al.
Publicado: (2019)

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death
por: Bagnall, Richard D, et al.
Publicado: (2014)

Comparison of conventional autopsy and magnetic resonance imaging in determining the cause of sudden death in the young
por: Puranik, Rajesh, et al.
Publicado: (2014)

Sudden Unexplained Death in Childhood: A Neuropathology Review
por: McGuone, Declan, et al.
Publicado: (2020)

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease
por: Ross, Samantha Barratt, et al.
Publicado: (2018)

What do we do and how do we do it? Assessing genetic counselling in the modern era
por: Yeates, Laura, et al.
Publicado: (2020)

Editorial: New Approaches to the Pathogenesis of Sudden Intrauterine Unexplained Death and Sudden Infant Death Syndrome
por: Lavezzi, Anna M., et al.
Publicado: (2017)

Sudden unexplained death in a patient with HIV and MDR-TB
por: Boxall, E, et al.
Publicado: (2010)

Sudden Unexplained Nocturnal Death Syndrome: The Hundred Years' Enigma
por: Zheng, Jingjing, et al.
Publicado: (2018)

Neurochemical Alterations in Sudden Unexplained Perinatal Deaths—A Review
por: Muhammad, Nazeer, et al.
Publicado: (2018)

Non-diagnostic autopsy findings in sudden unexplained death victims
por: Yazdanfard, Puriya Daniel, et al.
Publicado: (2020)

Potential Role of Life Stress in Unexplained Sudden Cardiac Arrest
por: Chang Liu, Ming, et al.
Publicado: (2020)

Proteomic differences in hippocampus and cortex of sudden unexplained death in childhood
por: Leitner, Dominique F., et al.
Publicado: (2022)

The Australian Genetic Heart Disease Registry: Protocol for a Data Linkage Study
por: Butters, Alexandra, et al.
Publicado: (2023)

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
por: Bleakley, Lauren E., et al.
Publicado: (2020)

Differential Methylation in the GSTT1 Regulatory Region in Sudden Unexplained Death and Sudden Unexpected Death in Epilepsy
por: Christiansen, Steffan Noe, et al.
Publicado: (2021)

Clinical and genetic features of Australian families with long QT syndrome: A registry-based study
por: Burns, Charlotte, et al.
Publicado: (2016)

Physical activity in hypertrophic cardiomyopathy: prevalence of inactivity and perceived barriers
por: Sweeting, Joanna, et al.
Publicado: (2016)

Cytoarchitectural and Functional Abnormalities of the Inferior Colliculus in Sudden Unexplained Perinatal Death
por: Lavezzi, Anna M., et al.
Publicado: (2015)

Seasonal Timing of Infant Bronchiolitis, Apnea and Sudden Unexplained Infant Death
por: Sloan, Chantel D., et al.
Publicado: (2016)

Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent
por: Lacaze, Paul, et al.
Publicado: (2021)

Obesity in young sudden cardiac death: Rates, clinical features, and insights into people with body mass index >50kg/m(2)
por: Paratz, Elizabeth D, et al.
Publicado: (2022)

Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death
por: Haïssaguerre, Michel, et al.
Publicado: (2018)

Sudden intrauterine unexplained death: time to adopt uniform postmortem investigative guidelines?
por: Lavezzi, Anna M., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_70a2jrd4er8hcm2vem9j7kd6vk