| Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility M Parkes, JC Barrett, NJ Prescott, M Tremelling, CA Anderson, SA Fisher, ... Nature genetics 39 (7), 830-832, 2007 | 1443 | 2007 |
| A prospective study of sudden cardiac death among children and young adults RD Bagnall, RG Weintraub, J Ingles, J Duflou, L Yeates, L Lam, AM Davis, ... New England Journal of Medicine 374 (25), 2441-2452, 2016 | 804 | 2016 |
| Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A RD Bagnall, N Waseem, PM Green, F Giannelli Blood, The Journal of the American Society of Hematology 99 (1), 168-174, 2002 | 565 | 2002 |
| A nonsynonymous SNP in ATG16L1 predisposes to ileal Crohn’s disease and is independent of CARD15 and IBD5 NJ Prescott, SA Fisher, A Franke, J Hampe, CM Onnie, D Soars, ... Gastroenterology 132 (5), 1665-1671, 2007 | 398 | 2007 |
| Factor VIII inhibitors in mild and moderate-severity haemophilia A CRM Hay, CA Ludlam, BT Colvin, FGH Hill, FE Preston, N Wasseem, ... Thrombosis and haemostasis 79 (04), 762-766, 1998 | 265 | 1998 |
| Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy RD Bagnall, DE Crompton, S Petrovski, L Lam, C Cutmore, SI Garry, ... Annals of neurology 79 (4), 522-534, 2016 | 254 | 2016 |
| Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy MG Ricos, BL Hodgson, T Pippucci, A Saidin, YS Ong, SE Heron, ... Annals of neurology 79 (1), 120-131, 2016 | 216 | 2016 |
| Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis C Chiu, RD Bagnall, J Ingles, L Yeates, M Kennerson, JA Donald, ... Journal of the American College of Cardiology 55 (11), 1127-1135, 2010 | 208 | 2010 |
| Nonfamilial hypertrophic cardiomyopathy: prevalence, natural history, and clinical implications J Ingles, C Burns, RD Bagnall, L Lam, L Yeates, T Sarina, R Puranik, ... Circulation: Cardiovascular Genetics 10 (2), e001620, 2017 | 190 | 2017 |
| Post‐mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases E Tu, RD Bagnall, J Duflou, C Semsarian Brain Pathology 21 (2), 201-208, 2011 | 181 | 2011 |
| Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease R Padang, RD Bagnall, DR Richmond, PG Bannon, C Semsarian Journal of molecular and cellular cardiology 53 (2), 277-281, 2012 | 172 | 2012 |
| Whole genome sequencing improves outcomes of genetic testing in patients with hypertrophic cardiomyopathy RD Bagnall, J Ingles, ME Dinger, MJ Cowley, SB Ross, AE Minoche, S Lal, ... Journal of the American College of Cardiology 72 (4), 419-429, 2018 | 170 | 2018 |
| Exome analysis–based molecular autopsy in cases of sudden unexplained death in the young RD Bagnall, J Das, J Duflou, C Semsarian Heart rhythm 11 (4), 655-662, 2014 | 152 | 2014 |
| Multiple gene variants in hypertrophic cardiomyopathy in the era of next-generation sequencing C Burns, RD Bagnall, L Lam, C Semsarian, J Ingles Circulation: Cardiovascular Genetics 10 (4), e001666, 2017 | 119 | 2017 |
| Sudden unexpected death in epilepsy genetics: molecular diagnostics and prevention AM Goldman, ER Behr, C Semsarian, RD Bagnall, S Sisodiya, PN Cooper Epilepsia 57, 17-25, 2016 | 113 | 2016 |
| Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death RD Bagnall, LK Molloy, JM Kalman, C Semsarian BMC medical genetics 15, 1-9, 2014 | 106 | 2014 |
| Int22h‐related inversions causing hemophilia A: a novel insight into their origin and a new more discriminant PCR test for their detection RD Bagnall, F Giannelli, PM Green Journal of Thrombosis and Haemostasis 4 (3), 591-598, 2006 | 105 | 2006 |
| Global microRNA profiling of the mouse ventricles during development of severe hypertrophic cardiomyopathy and heart failure RD Bagnall, T Tsoutsman, RE Shephard, W Ritchie, C Semsarian Public Library of Science 7 (9), e44744, 2012 | 103 | 2012 |
| Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment J Das K, J Ingles, RD Bagnall, C Semsarian Genetics in Medicine 16 (4), 286-293, 2014 | 102 | 2014 |
| Recommendations for clinical interpretation of variants found in non-coding regions of the genome JM Ellingford, JW Ahn, RD Bagnall, D Baralle, S Barton, C Campbell, ... Genome medicine 14 (1), 73, 2022 | 101 | 2022 |
Christopher SemsarianUniversity of Sydney在 centenary.org.au 的电子邮件经过验证
