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Edwin P Kirk
Edwin P Kirk
Sydney Children's Hospital
Verified email at unsw.edu.au
Title
Cited by
Cited by
Year
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
5722015
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
4142007
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
3682001
Congenital heart disease: current knowledge about causes and inheritance.
GM Blue, EP Kirk, GF Sholler, RP Harvey, DS Winlaw
Medical Journal of Australia 197 (3), 2012
3502012
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
3092003
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
2372010
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
2292004
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
2122012
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
1922009
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
1902004
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
1842018
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
1702010
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
1502020
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
1482008
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
1402017
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
1382002
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
1302018
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
1192013
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
1092012
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
1082014
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