Bagnall RD, Weintraub RG, Ingles J, Duflou J, Yeates L, Lam L, Davis AM, Thompson T, Connell V, Wallace J, Naylor C, Crawford J, Love DR, Hallam L, White J, Lawrence C, Lynch M, Morgan N, James P, du Sart D, Puranik R, Langlois N, Vohra J, Winship I, Atherton J, McGaughran J, Skinner JR, Semsarian C. A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med. 2016 Jun 23;374(25):2441-52.
This prospective population-based observational study evaluated the incidence and cause of sudden cardiac death in individuals ages 1-35 years in Australia and New Zealand during a 2-year period from 2010 to 2012. We collected autopsy information, demographic information, and clinical data, including genetic and laboratory information, about the deceased. There was media coverage from, amongst others, the 9News Network and from the New England Journal of Medicine blog.
Goldman AM, Behr ER, Semsarian C, Bagnall RD, Sisodiya S, Cooper PN. Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. Epilepsia. 2016 Jan;57 Suppl 1:17-25.
Bagnall RD, Crompton DE, Petrovski S, Lam L, Cutmore C, Garry SI, Sadleir LG, Dibbens LM, Cairns A, Kivity S, Afawi Z, Regan BM, Duflou J, Berkovic SF, Scheffer IE, Semsarian C. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Ann Neurol. 2016 Apr;79(4):522-34.
In this study we performed genetic analysis of a large cohort of sudden unexpected death in epilepsy (SUDEP) cases. We found DNA variants in genes that, when altered, cause a cardiac arrhythmia that can be fatal. I was interviewed by ABC radio about this study and I wrote a lay summary for SUDEPAware eNews.
Earle N, Ingles J, Bagnall RD, Gray B, Crawford J, Smith W, Shelling AN, Love DR, Semsarian C, Skinner JR. NOS1AP Polymorphisms Modify QTc Interval Duration But Not Cardiac Arrest Risk in Hypertrophic Cardiomyopathy. J Cardiovasc Electrophysiol. 2015 Dec;26(12):1346-51.
Padang R, Bagnall RD, Tsoutsman T, Bannon PG, Semsarian C. Comparative transcriptome profiling in human bicuspid aortic valve disease using RNA sequencing. Physiol Genomics. 2015 Mar;47(3):75-87.
Bagnall RD, Molloy LK, Kalman JM, Semsarian C. 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.
Bagnall RD, Crompton DE, Cutmore C, Regan BM, Berkovic SF, Scheffer IE, Semsarian C. Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases. Neurology. 2014 Sep 9;83(11):1018-21.
Bagnall RD, Das K J, Duflou J, Semsarian C. Exome analysis-based molecular autopsy in cases of sudden unexplained death in the young. Heart Rhythm. 2014 Apr;11(4):655-62.
Das K J, Ingles J, Bagnall RD, Semsarian C. Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment. Genet Med. 2014 Apr;16(4):286-93.
Figtree GA, Bagnall RD, Abdulla I, Buchholz S, Galougahi KK, Yan W, Tan T, Neil C, Horowitz JD, Semsarian C, Ward MR. No association of G-protein-coupled receptor kinase 5 or β-adrenergic receptor polymorphisms with Takotsubo cardiomyopathy in a large Australian cohort. Eur J Heart Fail. 2013 Jul;15(7):730-3.
Evans A, Bagnall RD, Duflou J, Semsarian C. Postmortem review and genetic analysis in sudden infant death syndrome: an 11-year review. Hum Pathol. 2013 Sep;44(9):1730-6.
Padang R, Bagnall RD, Semsarian C. Genetic basis of familial valvular heart disease. Circ Cardiovasc Genet. 2012 Oct 1;5(5):569-80.
Bagnall RD, Tsoutsman T, Shephard RE, Ritchie W, Semsarian C. Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure. PLoS One. 2012;7(9):e44744. Epub 2012 Sep 14.
Padang R, Bagnall RD, Richmond DR, Bannon PG, Semsarian C. Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J Mol Cell Cardiol. 2012 Aug;53(2):277-81.
Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C. A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia. J Mol Cell Cardiol. 2011 Nov;51(5):848-54.
Tu E, Waterhouse L, Duflou J, Bagnall RD, Semsarian C. Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases. Brain Pathol. 2011 Nov;21(6):692-8.
Bagnall RD, Ingles J, Semsarian C. Molecular diagnostics of cardiomyopathies: the future is here. Circ Cardiovasc Genet. 2011 Apr;4(2):103-4.
Tu E, Bagnall RD, Duflou J, Semsarian C. Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases. Brain Pathol. 2011 Mar;21(2):201-8.
Bagnall RD, Yeates L, Semsarian C. Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy. Int J Cardiol. 2010 Dec 3;145(3):601-2.
Tu E, Bagnall RD, Duflou J, Lynch M, Twigg SM, Semsarian C. Post-mortem pathologic and genetic studies in “dead in bed syndrome” cases in type 1 diabetes mellitus. Hum Pathol. 2010 Mar;41(3):392-400.
Bagnall RD, Yeates L, Semsarian C. The role of large gene deletions and duplications in MYBPC3 and TNNT2 in patients with hypertrophic cardiomyopathy. Int J Cardiol. 2010 Nov 5;145(1):150-3.
Tsoutsman T, Bagnall RD, Semsarian C. Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure. Clin Exp Pharmacol Physiol. 2008 Nov;35(11):1349-57.
Green PM, Bagnall RD, Waseem NH, Giannelli F. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol. 2008 Oct;143(1):115-28.
Bagnall RD, Roberts RG, Mirza MM, Torigoe T, Prescott NJ, Mathew CG. Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation. Eur J Hum Genet. 2008 May;16(5):619-25.
King K, Bagnall R, Fisher SA, Sheikh F, Cuthbert A, Tan S, Mundy NI, Rosenstiel P, Schreiber S,Mathew CG, Roberts RG. Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene. Genomics. 2007 Oct;90(4):493-501.
Parkes M, Barrett JC, Prescott NJ, Tremelling M, Anderson CA, Fisher SA, Roberts RG, Nimmo ER, Cummings FR, Soars D, Drummond H, Lees CW, Khawaja SA, Bagnall R, Burke DA, Todhunter CE, Ahmad T, Onnie CM, McArdle W, Strachan D, Bethel G, Bryan C, Lewis CM, Deloukas P, Forbes A, Sanderson J, Jewell DP, Satsangi J, Mansfield JC; Wellcome Trust Case Control Consortium, Cardon L, Mathew CG. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn’s disease susceptibility. Nat Genet. 2007 Jul;39(7):830-2.
Prescott NJ, Fisher SA, Franke A, Hampe J, Onnie CM, Soars D, Bagnall R, Mirza MM, Sanderson J, Forbes A, Mansfield JC, Lewis CM, Schreiber S, Mathew CG. A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn’s disease and is independent of CARD15 and IBD5. Gastroenterology. 2007 May;132(5):1665-71.
Bagnall RD, Giannelli F, Green PM. Int22h-related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection. J Thromb Haemost. 2006 Mar;4(3):591-8.
Bagnall RD, Giannelli F, Green PM. Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. J Thromb Haemost. 2005 Nov;3(11):2598-9.
Bagnall RD, Ayres KL, Green PM, Giannelli F. Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A. Genome Res. 2005 Feb;15(2):214-23.
Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood. 2002 Jan 1;99(1):168-74.
We describe a recurrent inversion mutation that causes 5% of severe hemophilia A, and a simple PCR based assay that is now offered as a diagnostic test at the Mayo Clinic Mayo Medical Laboratories.
Waseem NH, Bagnall R, Green PM, Giannelli F. Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. Thromb Haemost. 1999 Jun;81(6):900-5.
Bagnall RD, Waseem NH, Green PM, Colvin B, Lee C, Giannelli F. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. Br J Haematol. 1999 Dec;107(4):766-71.
Green PM, Waseem NH, Bagnall RD, Giannelli F. Mutation analysis and genetic service: the construction and use of national confidential databases of mutations and pedigrees. Genet Test. 1997-1998;1(3):181-8.
Richard D Bagnall 