By Professor Edwin Philip Enfield Kirk

Journal articles

Marsh DJ; Trahair TN; Kirk EP, 2011, 'Mutant AKT1 in Proteus Syndrome', New England Journal of Medicine, 365, pp. 2141 - 2142, http://dx.doi.org/10.1056/NEJMc1111367

Williams GD; Kirk EP; Wilson CJ; Meadows CA; Chan BS, 2011, 'Salicylate intoxication from teething gel in infancy.', Med J Aust, 194, pp. 146 - 148, http://dx.doi.org/10.5694/j.1326-5377.2011.tb04201.x

Scurr I; Wilson L; Lees M; Robertson S; Kirk E; Turner A; Morton J; Kidd A; Shashi V; Stanley C; Berry M; Irvine AD; Goudie D; Turner C; Brewer C; Smithson S, 2011, 'Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.', Am J Med Genet A, 155A, pp. 508 - 518, http://dx.doi.org/10.1002/ajmg.a.33885

Prada CE; Al Jasmi F; Kirk EP; Hopp M; Jones O; Leslie ND; Burrow TA, 2011, 'Cardiac disease in methylmalonic acidemia.', J Pediatr, 159, pp. 862 - 864, http://dx.doi.org/10.1016/j.jpeds.2011.06.005

Moradi Marjaneh M; Kirk EP; Posch MG; Ozcelik C; Berger F; Hetzer R; Otway R; Butler TL; Blue GM; Griffiths LR; Fatkin D; Martinson JJ; Winlaw DS; Feneley MP; Harvey RP, 2011, 'Investigation of association between PFO complicated by cryptogenic stroke and a common variant of the cardiac transcription factor GATA4.', PLoS One, 6, pp. e20711, http://dx.doi.org/10.1371/journal.pone.0020711

Wright EMMB; Suri M; White SM; de Leeuw N; Vulto-van Silfhout AT; Stewart F; McKee S; Mansour S; Connell FC; Chopra M; Kirk EP; Devriendt K; Reardon W; Brunner H; Donnai D, 2011, 'Pierpont syndrome: a collaborative study.', Am J Med Genet A, 155A, pp. 2203 - 2211, http://dx.doi.org/10.1002/ajmg.a.34147

Moray A; Kirk EP; Grant P; Camphausen C, 2011, 'Prophylactic left thoracic sympathectomy to prevent electrical storms in CPVT patients needing ICD placement.', Heart Lung Circ, 20, pp. 731 - 733, http://dx.doi.org/10.1016/j.hlc.2011.03.003

Esposito G; Butler TL; Blue GM; Cole AD; Sholler GF; Kirk EP; Grossfeld P; Perryman BM; Harvey RP; Winlaw DS, 2011, 'Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart.', Am J Med Genet A, 155A, pp. 2416 - 2421, http://dx.doi.org/10.1002/ajmg.a.34187

Elliott DA; Kirk EP; Schaft D; Harvey RP, 2010, 'NK-2 Class Homeodomain Proteins. Conserved Regulators of Cardiogenesis', , pp. 569 - 597, http://dx.doi.org/10.1016/B978-0-12-381332-9.00026-8

Granados-Riveron JT; Ghosh TK; Pope M; Bu'Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour JAL; David Brook J, 2010, 'Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.', Hum Mol Genet, 19, pp. 4007 - 4016, http://dx.doi.org/10.1093/hmg/ddq315

Numata S; Koda Y; Ihara K; Sawada T; Okano Y; Matsuura T; Endo F; Yoo HW; Arranz JA; Rubio V; Wermuth B; Ah Mew N; Tuchman M; Pinner JR; Kirk EP; Yoshino M, 2010, 'Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations', Journal of Human Genetics, 55, pp. 18 - 22, http://dx.doi.org/10.1038/jhg.2009.113

Pinner J; Freckman M; Kirk EP; Yoshino M, 2010, 'Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature', Journal of Medical Case Reports, 4, pp. 361 - 364

Butler TL; Esposito G; Blue GM; Cole A; Costa M; Waddell L; Walizada G; Sholler G; Kirk EP; Feneley MP; Harvey RP; Winlaw D, 2010, 'GATA4 mutations in 357 unrelated patients with congenital heart malformation', Genetic Testing and Molecular Biomarkers, 14, pp. 797 - 802, http://dx.doi.org/10.1089/gtmb.2010.0028

Kranendijk M; Struys E; Schaftingen E; Gibson K; Kanhari W; Van der knaap M; Amiel J; Buist N; Das A; De klerk J; Feingenbaum A; Grange D; Hofstede F; Home E; Kirk EP; Korman S; Morava E; Morris A; Smeitink J; Sukari R; Vallance H; Jakobs C; Salomons G, 2010, 'IDH2 mutations in patients with D-2-hydroxyglutaric aciduria', Science, 330, pp. 336

Van kogelenberg M; Ghedia S; Mcgillivray G; Bruno D; Leventer R; Macdermot K; Nelson J; Nararajan L; Veltman J; De brouwer A; Gardner R; Van bokhoven H; Kirk EP; Robertson S, 2010, 'Periventricular Heterotopia in Common Microdeletion Syndromes', Molecular Syndromology, 1, pp. 35 - 41

Wilcken B; Haas M; Joy P; Wiley V; Bowling F; Carpenter K; Christodoulou J; Cowley D; Ellaway C; Fletcher J; Kirk EP; Lewis B; McGill J; Peters H; Pitt J; Ranieri E; Yaplito-Lee J; Boneh A, 2009, 'Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.', Pediatrics, 124, pp. e241 - e248, http://dx.doi.org/10.1542/peds.2008-0586

Chopra M; Jackson R; Durkie M; Beauchamp N; Kirk EP, 2009, 'Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation', Molecular Genetics and Metabolism, 97, pp. 315 - 315

Tan TY; Aftimos S; Worgan L; Susman R; Wilson M; Ghedia S; Kirk EP; Love D; Ronan A; Darmanian A; Slavotinek A; Hogue J; Moeschler JB; Ozmore J; Widmer R; Bruno D; Savarirayan R; Peters G, 2009, 'Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.', J Med Genet, 46, pp. 480 - 489, http://dx.doi.org/10.1136/jmg.2008.065391

Kirk EP; Malaty-Brevaud V; Martini N; Lacoste C; Levy N; Maclean K; Davies L; Philip N; Badens C, 2009, 'The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA.', Clin Genet, 75, pp. 301 - 303, http://dx.doi.org/10.1111/j.1399-0004.2008.01102.x

Bonaglia M; Giorda R; Beri S; Peters G; Kirk EP; Hung D; Ciccone R; Gottardi G; Zuffardi O, 2008, 'Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant', European Journal of Medical Genetics, 51, pp. 148 - 155

Marsh DJ; Trahair TN; Martin JL; Chee WY; Walker J; Kirk EP; Baxter RC; Marshall GM, 2008, 'Rapamycin treatment for a child with germline PTEN mutation.', Nat Clin Pract Oncol, 5, pp. 357 - 361, http://dx.doi.org/10.1038/ncponc1112

Kirk EP; Sunde M; Costa MW; Rankin SA; Wolstein O; Castro ML; Butler TL; Hyun C; Guo G; Otway R; Mackay JP; Waddell LB; Cole AD; Hayward C; Keogh A; Macdonald P; Griffiths L; Fatkin D; Sholler GF; Zorn AM; Feneley MP; Winlaw DS; Harvey RP, 2007, 'Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.', Am J Hum Genet, 81, pp. 280 - 291, http://dx.doi.org/10.1086/519530

Kirk EP; Hyun C; Thomson PC; Lai D; Castro ML; Biben C; Buckley MF; Martin ICA; Moran C; Harvey RP, 2006, 'Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse.', Circ Res, 98, pp. 651 - 658, http://dx.doi.org/10.1161/01.RES.0000209965.59312.aa

Suttor VP; Plit M; Krik E; Glanville A, 2006, 'Angiodysplasia and Noonan syndrome: a new association.', Intern Med J, 36, pp. 333 - 334, http://dx.doi.org/10.1111/j.1445-5994.2006.01060.x

Roscioli T; Cliffe ST; Bloch DB; Bell CG; Mullan G; Taylor PJ; Sarris M; Wang J; Donald JA; Kirk EP; Ziegler JB; Salzer U; McDonald GB; Wong M; Lindeman R; Buckley MF, 2006, 'Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.', Nat Genet, 38, pp. 620 - 622, http://dx.doi.org/10.1038/ng1780

Holyoake PK; Stevenson J; Moran C; Stokes R; Kirk EP; Sugo E; Hawthorne WJ, 2006, 'The occurrence of congenital heart defects in an inbred herd of pigs in Australia.', Aust Vet J, 84, pp. 129 - 133, http://dx.doi.org/10.1111/j.1751-0813.2006.tb13395.x

Kirk EP; Sebire NJ; Erwich JJHM; Gardosi J, 2005, 'Classification of stillbirth [2] (multiple letters)', British Medical Journal, 331, pp. 1269 - 1270

Kirk EP, 2005, 'Classification of stillbirth: Classification is not explanation', BMJ, 331, pp. 1269, http://dx.doi.org/10.1136/bmj.331.7527.1269-b

Neas KR; Yip M-Y; James C; Kirk EPE, 2005, 'Patient with a non-mosaic isodicentric Yp and mild developmental delay.', Am J Med Genet A, 137, pp. 223 - 224, http://dx.doi.org/10.1002/ajmg.a.30740

Kirk EP; Hattam A; Turner A; Bonke B; Tibben A; Lindhout D; Clarke AJ; Stijnen T, 2005, 'Genetic risk estimation by health care professionals (multiple letters) [5]', Medical Journal of Australia, 182, pp. 596 - 597, http://dx.doi.org/10.5694/j.1326-5377.2005.tb06828.x

Kirk EP; Cregan K, 2005, 'Ethics of therapeutic cloning [4] (multiple letters)', Internal Medicine Journal, 35, pp. 500, http://dx.doi.org/10.1111/j.1445-5994.2005.00884.x

Kirk EP; Hattam A; Turner AM, 2005, 'Genetic risk information by health care professionals', Medical Journal of Australia, 182, pp. 116 - 118

Neas K; Bennetts B; Carpenter K; White R; Kirk EP; Wilson M; Kelley R; Baric I; Christodoulou J, 2005, 'OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.', J Inherit Metab Dis, 28, pp. 525 - 532, http://dx.doi.org/10.1007/s10545-005-0525-8

Maclean K; Rasiah VS; Kirk EPE; Carpenter K; Cooper S; Lui K; Oei J, 2005, 'Pulmonary haemorrhage and cardiac dysfunction in a neonate with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.', Acta Paediatr, 94, pp. 114 - 116, http://dx.doi.org/10.1111/j.1651-2227.2005.tb01797.x

Kirk EP, 2004, 'The fog of expectation', BMJ, 329, pp. 1495, http://dx.doi.org/10.1136/bmj.329.7480.1495-a

Smith JM; Kirk EPE, 2004, 'The expanding phenotype of cystic fibrosis [1]', Medical Journal of Australia, 181, pp. 514, http://dx.doi.org/10.5694/j.1326-5377.2004.tb06415.x

Kirk EP; Smith JM; Field M; Marshall GM; Marsh DJ; Cohen MM; Turner JT; Biesecker LG, 2004, 'Diagnosis of proteus syndrome was correct [4] (multiple letters)', American Journal of Medical Genetics, 130 A, pp. 214 - 215, http://dx.doi.org/10.1002/ajmg.a.30337

Lin S; Kirk EP; McKenzie F; Francis CL; Shalhoub C; Turner AM, 2004, 'De novo interstitial duplication 4(q28.1q35) associated with choanalatresia', Journal of Paediatrics and Child Health (Vol. 48, Suppl. 2, 2012, 1–13), 40, pp. 401 - 403

Kirk EP; Smith JM; Field M; Marshall GM; Marsh DJ, 2004, 'Diagnosis of proteus syndrome was correct', American Journal of Medical Genetics Part A, 130A, pp. 214 - 215

Maclean K; Field M; Colley AF; Mowat DR; Sparrow DB; Dunwoodie SL; Kirk EP, 2004, 'Kousseff syndrome: A causally heterogeneous disorder', American Journal of Medical Genetics Part A, 124A, pp. 307 - 312

Kirby DM; Salemi R; Sugiana C; Ohtake A; Parry L; Bell K; Kirk EP; Boneh A; Taylor RW; Dahl HH; Ryan MT; Thorburn D, 2004, 'NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency', Journal of Clinical Investigation, 114, pp. 837 - 845

Hermans MMP; van Leenen D; Kroos MA; Beesley CE; Van Der Ploeg AT; Sakuraba H; Wevers R; Kleijer W; Michelakakis H; Kirk EP; Fletcher J; Bosshard N; Basel-Vanagaite L; Besley G; Reuser AJJ, 2004, 'Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.', Hum Mutat, 23, pp. 47 - 56, http://dx.doi.org/10.1002/humu.10286

Kirk EP, 2003, 'Treatment by deception is bad medicine [6]', Lancet, 362, pp. 668, http://dx.doi.org/10.1016/S0140-6736(03)14174-8

Clarke NF; Andrews I; Carpenter K; Jakobs C; van der Knaap MS; Kirk EP, 2003, 'D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.', Am J Med Genet A, 120A, pp. 523 - 527, http://dx.doi.org/10.1002/ajmg.a.20120

Elliott DA; Kirk EP; Yeoh T; Chandar S; McKenzie F; Taylor P; Grossfeld P; Fatkin D; Jones O; Hayes P; Feneley M; Harvey RP, 2003, 'Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: Associations with atrial septal defect and hypoplastic left heart syndrome', Journal of the American College of Cardiology, 41, pp. 2072 - 2076, http://dx.doi.org/10.1016/S0735-1097(03)00420-0

Kirk EP, 2003, 'Embryo selection for complex traits is impracticable [13]', British Medical Journal, 326, pp. 53

Kirk EP; Isaacs D, 2003, 'To kill or let die? [1] (multiple letters)', Journal of Paediatrics and Child Health, 39, pp. 480, http://dx.doi.org/10.1046/j.1440-1754.2003.00195.x

Elliott DA; Kirk EP; Yeoh TB; Chandar S; McKenzie F; Taylor PC; Grossfeld P; Fatkin D; Jones OD; Hayes P; Feneley MP; Harvey RJ, 2003, 'Cardiac Homebox Gene NKX2-5 Mutations and Congenital Heart Disease', Journal of the American College of Cardiology, 41, pp. 2072 - 2076

Harvey RP; Lai D; Elliott D; Biben C; Solloway M; Prall O; Stennard F; Schindeler A; Groves N; Lavulo L; Hyun C; Yeoh T; Costa M; Furtado M; Kirk E, 2002, 'Homeodomain factor Nkx2-5 in heart development and disease', Cold Spring Harbor Symposia on Quantitative Biology, 67, pp. 107 - 114, http://dx.doi.org/10.1101/sqb.2002.67.107

McKenzie F; Turner A; Withers S; Dalzell P; McGlynn M; Kirk EPE, 2002, 'Dominant inheritance of cleft palate, microstomia and micrognathia--possible linkage to the fragile site at 16q22 (FRA16B).', Clin Dysmorphol, 11, pp. 237 - 241, http://dx.doi.org/10.1097/00019605-200210000-00002

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