Edwin P Kirk
Edwin P Kirk
Sydney Children's Hospital
Verified email at unsw.edu.au
Cited by
Cited by
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
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
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
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
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
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
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
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
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
Dominant missense mutations in ABCC9 cause Cantu syndrome
M Harakalova, JJT van Harssel, PA Terhal, S van Lieshout, K Duran, ...
Nature genetics 44 (7), 793-796, 2012
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
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
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
Combined mutation screening of NKX2‐5, GATA4, and TBX5 in congenital heart disease: Multiple heterozygosity and novel mutations
JT Granados‐Riveron, M Pope, FA Bu'Lock, C Thornborough, J Eason, ...
Congenital heart disease 7 (2), 151-159, 2012
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
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 (6), 1119-1128, 2012
Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease
T Roscioli, ST Cliffe, DB Bloch, CG Bell, G Mullan, PJ Taylor, M Sarris, ...
Nature genetics 38 (6), 620-622, 2006
Homeodomain factor Nkx2-5 in heart development and disease
RP Harvey, D Lai, D Elliott, C Biben, M Solloway, O Prall, F Stennard, ...
Cold Spring Harbor symposia on quantitative biology 67, 107-114, 2002
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
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
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