Publications by authors named "Richard D Bagnall"

54Publications

Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death.

Genet Med 2020 Sep 25. Epub 2020 Sep 25.

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.

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http://dx.doi.org/10.1038/s41436-020-00970-5DOI Listing
September 2020

"Concealed cardiomyopathy" as a cause of previously unexplained sudden cardiac arrest.

Int J Cardiol 2020 Sep 12. Epub 2020 Sep 12.

Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, Australia; Faculty of Medicine and Heath, The University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2020.09.031DOI Listing
September 2020

Clinical Utility of a Phenotype Enhanced -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.

Circ Genom Precis Med 2020 Sep 7. Epub 2020 Sep 7.

Mayo Clinic Graduate School of Biomedical Sciences, Department of Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory) & Department of Pediatric and Adolescent Medicine/Division of Pediatric Cardiology & Department of Cardiovascular Medicine/Division of Heart Rhythm Services, Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.120.003039DOI Listing
September 2020

Revisiting the Diagnostic Yield of Hypertrophic Cardiomyopathy Genetic Testing.

Circ Genom Precis Med 2020 04 21;13(2):e002930. Epub 2020 Apr 21.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia (A.B., R.D.B., J.I.).

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http://dx.doi.org/10.1161/CIRCGEN.120.002930DOI Listing
April 2020

Triadin Knockout Syndrome Is Absent in a Multi-Center Molecular Autopsy Cohort of Sudden Infant Death Syndrome and Sudden Unexplained Death in the Young and Is Extremely Rare in the General Population.

Circ Genom Precis Med 2020 04 13;13(2):e002731. Epub 2020 Mar 13.

Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics (D.J.C., D.J.T., S.M.D., M.J.A.), Mayo Clinic, Rochester, MN.

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http://dx.doi.org/10.1161/CIRCGEN.119.002731DOI Listing
April 2020

Sudden Cardiac Death in the Young.

Heart Lung Circ 2020 Apr 12;29(4):498-504. Epub 2019 Dec 12.

The Department of Cardiology, The Heart Centre, Copenhagen University, Rigshospitalet, Copenhagen, Denmark; Department of Forensic Medicine, Faculty of Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.hlc.2019.11.007DOI Listing
April 2020

Correction: Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Genet Med 2019 May;21(5):1264

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2018.21DOI Listing
May 2019

Key Value of RNA Analysis of MYBPC3 Splice-Site Variants in Hypertrophic Cardiomyopathy.

Circ Genom Precis Med 2019 01;12(1):e002368

Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Australia (E.S.S., J.I., C.S., R.D.B.).

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https://www.ahajournals.org/doi/10.1161/CIRCGEN.118.002368
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http://dx.doi.org/10.1161/CIRCGEN.118.002368DOI Listing
January 2019

Concealed Arrhythmogenic Right Ventricular Cardiomyopathy in Sudden Unexplained Cardiac Death Events.

Circ Genom Precis Med 2018 11;11(11):e002355

Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., R.D.B., L.Y., C.S.).

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http://dx.doi.org/10.1161/CIRCGEN.118.002355DOI Listing
November 2018

Response to Brodehl et al.

Genet Med 2019 05 28;21(5):1248-1249. Epub 2018 Sep 28.

Molecular Cardiology and Biophysics Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.

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http://www.nature.com/articles/s41436-018-0292-1
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http://dx.doi.org/10.1038/s41436-018-0292-1DOI Listing
May 2019

A balanced translocation disrupting SCN5A in a family with Brugada syndrome and sudden cardiac death.

Heart Rhythm 2019 02 28;16(2):231-238. Epub 2018 Aug 28.

Agnes Ginges Centre for Molecular Cardiology Centenary Institute, The University of Sydney, Sydney, NSW, Australia; Sydney Medical School, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.08.027DOI Listing
February 2019

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.

J Am Coll Cardiol 2018 07;72(4):419-429

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jacc.2018.04.078DOI Listing
July 2018

Holt-Oram syndrome in two families diagnosed with left ventricular noncompaction and conduction disease.

HeartRhythm Case Rep 2018 Apr 13;4(4):146-151. Epub 2018 Feb 13.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia.

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http://dx.doi.org/10.1016/j.hrcr.2017.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944048PMC
April 2018

Genetic Testing for Cardiomyopathies in Clinical Practice.

Heart Fail Clin 2018 Apr;14(2):129-137

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.hfc.2017.12.001DOI Listing
April 2018

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

Circ Cardiovasc Genet 2017 Aug;10(4)

From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (C.B., R.D.B., L.L., C.S., J.I.); Central Clinical School, Sydney Medical School, University of Sydney, New South Wales, Australia (C.B., R.D.B., C.S., J.I.); and Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia (C.B., C.S., J.I.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001666DOI Listing
August 2017

Genetic Basis of Sudden Unexpected Death in Epilepsy.

Front Neurol 2017 20;8:348. Epub 2017 Jul 20.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW, Australia.

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http://dx.doi.org/10.3389/fneur.2017.00348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517398PMC
July 2017

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

Circ Cardiovasc Genet 2017 Jun;10(3)

From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, New South Wales, Australia (S.B.R., R.D.B., J.I., C.S.); Sydney Medical School, University of Sydney, New South Wales, Australia (S.B.R., R.D.B., J.I., C.S.); Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia (J.I., C.S.); and Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, The Netherlands (J.P.V.T.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001671DOI Listing
June 2017

LAMP2 shines a light on cardiomyopathy in an athlete.

HeartRhythm Case Rep 2017 Mar 13;3(3):172-176. Epub 2017 Jan 13.

Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.

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http://dx.doi.org/10.1016/j.hrcr.2016.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420071PMC
March 2017

Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

Circ Cardiovasc Genet 2017 Apr;10(2)

From the Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia (J.I., C.B., R.D.B., L.L., L.Y., T.S., C.S.); Central Clinical School (J.I., C.B., R.D.B., R.P., C.S.), and School of Public Health (T.D.), Sydney Medical School, University of Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia (J.I., C.B., L.Y., R.P., C.S.); School of Population Health, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia, Perth (T.B.); Department of Cardiology, Royal Brisbane & Women's Hospital, Australia (J.J.A.); and School of Medicine, University of Queensland, Brisbane, Australia (J.J.A.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001620DOI Listing
April 2017

Peripheral blood derived induced pluripotent stem cells (iPSCs) from a female with familial hypertrophic cardiomyopathy.

Stem Cell Res 2017 04 7;20:76-79. Epub 2017 Mar 7.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1016/j.scr.2017.02.016DOI Listing
April 2017

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

Genet Med 2017 10 23;19(10):1127-1133. Epub 2017 Mar 23.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2017.15DOI Listing
October 2017

Sudden Cardiac Death in Children and Young Adults.

N Engl J Med 2016 09;375(13):1301-2

Centenary Institute, Sydney, NSW, Australia

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http://dx.doi.org/10.1056/NEJMc1609620DOI Listing
September 2016

A Prospective Study of Sudden Cardiac Death among Children and Young Adults.

N Engl J Med 2016 Jun;374(25):2441-52

From the Agnes Ginges Center for Molecular Cardiology, Centenary Institute, University of Sydney (R.D.B., J.I., L.Y., L.L., C.S.), Sydney Medical School, University of Sydney (R.D.B., J.I., J.D., R.P., C.S.), Department of Forensic Medicine, NSW Health Pathology (J.D.), and Department of Cardiology, Royal Prince Alfred Hospital (J.I., L.Y., R.P., C.S.), Sydney, the Department of Cardiology, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne (R.G.W., A.M.D., V.C., D.S.), Departments of Pediatrics (A.M.D.) and Pathology (P.J.), University of Melbourne, Genetic Medicine, Royal Melbourne Hospital (T.T., P.J., J.V., I.W.), Department of Medicine, Royal Melbourne Hospital, University of Melbourne (J.V., I.W.), and Victorian Institute of Forensic Medicine (M.L., N.M.), Melbourne, VIC, Forensic and Scientific Services, Archerfield, QL (J.W., C.N.), University of Queensland (J.W., C.N.), and Royal Brisbane and Women's Hospital (J.A., J.M.), Brisbane, QL, Department of Forensic Pathology, PathWest, Fremantle, WA (J.W.), ACT Pathology, Canberra Hospital, Canberra, ACT (L.H.), Royal Hobart Hospital, University of Tasmania, Hobart, TAS (C.L.), and the Attorney General's Department, University of Adelaide, Adelaide, SA (N.L.) - all in Australia; and Green Lane Pediatric and Congenital Cardiac Services, Starship Children's Hospital (J.C., J.R.S.), LabPLUS, Auckland City Hospital (D.L.), and the Department of Child Health, University of Auckland (J.R.S.), Auckland, New Zealand.

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http://dx.doi.org/10.1056/NEJMoa1510687DOI Listing
June 2016

A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2016 08 5;13(8):1652-60. Epub 2016 May 5.

Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2016.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453511PMC
August 2016

NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy.

J Cardiovasc Electrophysiol 2015 Dec 13;26(12):1346-51. Epub 2015 Oct 13.

Greenlane Paediatric and Congenital Cardiac Services, Starship Childrens Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1111/jce.12827DOI Listing
December 2015

Exome sequencing identifies a novel mutation in the gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

HeartRhythm Case Rep 2015 May 30;1(3):141-145. Epub 2015 Apr 30.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.hrcr.2015.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418620PMC
May 2015

Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing.

Physiol Genomics 2015 Mar 29;47(3):75-87. Epub 2014 Dec 29.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia;

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https://www.physiology.org/doi/10.1152/physiolgenomics.00115
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http://dx.doi.org/10.1152/physiolgenomics.00115.2014DOI Listing
March 2015

Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.

BMC Med Genet 2014 Sep 16;15:99. Epub 2014 Sep 16.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Locked Bag 6, Newtown, Sydney, NSW, 2042, Australia.

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http://dx.doi.org/10.1186/s12881-014-0099-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355500PMC
September 2014

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.

Neurology 2014 Sep 1;83(11):1018-21. Epub 2014 Aug 1.

From the Agnes Ginges Centre for Molecular Cardiology (R.D.B., C.C., C.S.), Centenary Institute, Sydney; Sydney Medical School (R.D.B., C.S.), University of Sydney; Neurology Department (D.E.C., B.M.R.), Northern Health, Melbourne; Epilepsy Research Centre (D.E.C., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne; Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne; and Department of Cardiology (C.S.), Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000000781DOI Listing
September 2014

Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young.

Heart Rhythm 2014 Apr 17;11(4):655-62. Epub 2014 Jan 17.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2014.01.017DOI Listing
April 2014

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

Genet Med 2014 Apr 10;16(4):286-93. Epub 2013 Oct 10.

1] Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia [2] Sydney Medical School, University of Sydney, Sydney, Australia [3] Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2013.138DOI Listing
April 2014

Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review.

Hum Pathol 2013 Sep 25;44(9):1730-6. Epub 2013 Apr 25.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, NSW 2042, Australia.

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http://dx.doi.org/10.1016/j.humpath.2013.01.024DOI Listing
September 2013

Genetic basis of familial valvular heart disease.

Circ Cardiovasc Genet 2012 Oct;5(5):569-80

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1161/CIRCGENETICS.112.962894DOI Listing
October 2012

Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease.

J Mol Cell Cardiol 2012 Aug 26;53(2):277-81. Epub 2012 May 26.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Australia.

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http://dx.doi.org/10.1016/j.yjmcc.2012.05.009DOI Listing
August 2012

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

J Mol Cell Cardiol 2011 Nov 12;51(5):848-54. Epub 2011 Jul 12.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1016/j.yjmcc.2011.07.001DOI Listing
November 2011

Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases.

Brain Pathol 2011 Nov 16;21(6):692-8. Epub 2011 Aug 16.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Newtown, Australia.

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http://dx.doi.org/10.1111/j.1750-3639.2011.00500.xDOI Listing
November 2011

Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.

Brain Pathol 2011 Mar 28;21(2):201-8. Epub 2010 Sep 28.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute. Sydney Medical School, University of Sydney, Australia.

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http://dx.doi.org/10.1111/j.1750-3639.2010.00438.xDOI Listing
March 2011

Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus.

Hum Pathol 2010 Mar 11;41(3):392-400. Epub 2009 Dec 11.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, NSW, 2042 Australia.

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http://dx.doi.org/10.1016/j.humpath.2009.08.020DOI Listing
March 2010

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

Clin Exp Pharmacol Physiol 2008 Nov 29;35(11):1349-57. Epub 2008 Aug 29.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1681.2008.05037.xDOI Listing
November 2008

Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation.

Eur J Hum Genet 2008 May 23;16(5):619-25. Epub 2008 Jan 23.

Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201996DOI Listing
May 2008

Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A.

Genome Res 2005 Feb;15(2):214-23

Department of Medical and Molecular Genetics, Guy's, King's College and St. Thomas' Hospitals Medical College, King's College, London SE1 9RT, United Kingdom.

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http://dx.doi.org/10.1101/gr.2946205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC546521PMC
February 2005

Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A.

Blood 2002 Jan;99(1):168-74

Division of Medical and Molecular Genetics, Guy's, King's, and St Thomas' School of Medicine, London, United Kingdom.

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http://www.bloodjournal.org/content/99/1/168.full.pdf
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http://dx.doi.org/10.1182/blood.v99.1.168DOI Listing
January 2002