| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 559 | 2015 |
| Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy EP Kirk, M Sunde, MW Costa, SA Rankin, O Wolstein, ML Castro, ... The American Journal of Human Genetics 81 (2), 280-291, 2007 | 411 | 2007 |
| Factor H mutations in hemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition A Richards, MR Buddles, RL Donne, BS Kaplan, E Kirk, MC Venning, ... The American Journal of Human Genetics 68 (2), 485-490, 2001 | 367 | 2001 |
| Congenital heart disease: current knowledge about causes and inheritance GM Blue, EP Kirk, GF Sholler, RP Harvey, DS Winlaw The Medical Journal of Australia 197 (3), 155-159, 2012 | 343 | 2012 |
| Cardiac homeobox gene NKX2-5mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome DA Elliott, EP Kirk, T Yeoh, S Chandar, F McKenzie, P Taylor, P Grossfeld, ... Journal of the American College of Cardiology 41 (11), 2072-2076, 2003 | 309 | 2003 |
| IDH2 mutations in patients with D-2-hydroxyglutaric aciduria M Kranendijk, EA Struys, E Van Schaftingen, KM Gibson, WA Kanhai, ... Science 330 (6002), 336-336, 2010 | 231 | 2010 |
| NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency DM Kirby, R Salemi, C Sugiana, A Ohtake, L Parry, KM Bell, EP Kirk, ... The Journal of clinical investigation 114 (6), 837-845, 2004 | 229 | 2004 |
| Dominant missense mutations in ABCC9 cause Cantú syndrome M Harakalova, JJT Van Harssel, PA Terhal, S Van Lieshout, K Duran, ... Nature genetics 44 (7), 793-796, 2012 | 207 | 2012 |
| Expanded newborn screening: outcome in screened and unscreened patients at age 6 years B Wilcken, M Haas, P Joy, V Wiley, F Bowling, K Carpenter, ... Pediatrics 124 (2), e241-e248, 2009 | 191 | 2009 |
| Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II MMP Hermans, D Leenen, MA Kroos, CE Beesley, AT Van der Ploeg, ... Human mutation 23 (1), 47-56, 2004 | 188 | 2004 |
| Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders LJ Ewans, D Schofield, R Shrestha, Y Zhu, V Gayevskiy, K Ying, C Walsh, ... Genetics in Medicine 20 (12), 1564-1574, 2018 | 176 | 2018 |
| α-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects JT Granados-Riveron, TK Ghosh, M Pope, F Bu'Lock, C Thornborough, ... Human molecular genetics 19 (20), 4007-4016, 2010 | 166 | 2010 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 150 | 2020 |
| Rapamycin treatment for a child with germline PTEN mutation DJ Marsh, TN Trahair, JL Martin, WY Chee, J Walker, EP Kirk, RC Baxter, ... Nature clinical practice Oncology 5 (6), 357-361, 2008 | 148 | 2008 |
| Advances in the genetics of congenital heart disease: a clinician’s guide GM Blue, EP Kirk, E Giannoulatou, GF Sholler, SL Dunwoodie, RP Harvey, ... Journal of the American College of Cardiology 69 (7), 859-870, 2017 | 137 | 2017 |
| Germline mutation of the tumour suppressor PTEN in Proteus syndrome JM Smith, EPE Kirk, G Theodosopoulos, GM Marshall, J Walker, ... Journal of medical genetics 39 (12), 937-940, 2002 | 137 | 2002 |
| A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ... Cell 172 (5), 924-936. e11, 2018 | 125 | 2018 |
| Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes SC Lim, M Friemel, JE Marum, EJ Tucker, DL Bruno, LG Riley, ... Human molecular genetics 22 (22), 4460-4473, 2013 | 116 | 2013 |
| Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia C Michot, L Hubert, NB Romero, A Gouda, A Mamoune, S Mathew, E Kirk, ... Journal of inherited metabolic disease 35, 1119-1128, 2012 | 109 | 2012 |
| Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease GM Blue, EP Kirk, E Giannoulatou, SL Dunwoodie, JWK Ho, DCK Hilton, ... Journal of the American College of Cardiology 64 (23), 2498-2506, 2014 | 107 | 2014 |
