By Professor Edwin Philip Enfield Kirk

Journal articles

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 BH; Carpenter K; White R; Kirk EP; Wilson MR; Kelley R; Baric I; Christodoulou J, 2005, 'OPA3 mutation screening in patients with enexplained 3-methylglutaconic acidura', Journal of Inherited Metabolic Disease, 28, pp. 525 - 532

Neas K; Yip M; James C; Kirk EP, 2005, 'Patient with a non-mosaic isodicentric Yp and mild developmental delay', American Journal of Medical Genetics Part A, 137A, pp. 223 - 224

Maclean K; Rasiah V; Kirk EP; Carpenter K; Cooper S; Lui K; Oei J, 2005, 'Pulmonary haemorrhage and cardiac dysfunction in a neonate withmedium-chain acyl-CoA dehydrogenase (MCAD) deficiency', ACTA Paediatrica, 94, pp. 114 - 116

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 MM; Leenen D; Kroos M; Beesley C; Ploeg AV; Sakuraba H; Wevers R; Kleijer W; Michelekakis H; Kirk EP; Fletcher J; Booshard N; Vanagaite LB; Besley G; Reuser A, 2004, 'Twenty -two novel mutations in the lysosomal alfa glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II', Human Mutation, 23, pp. 47 - 56

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

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

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', American Journal of Medical Genetics Part A, 120A, pp. 523 - 527

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 AM; Withers S; Dalzell P; Mcglynn M; Kirk EP, 2002, 'Dominant inheritance of cleft palate, microstomia and micrognathia-possible linkage to the fragile site at 16q22(FRA16B)', Clinical Dysmorphology, 11, pp. 237 - 241

Smith JM; Kirk EP; Theodosopoulos G; Marshall GM; Walker JL; Rogers M; Field M; Brereton J; Marsh DJ, 2002, 'Germline mutation of the tumor suppressor PTEN in Proteus syndrome', Journal of Medical Genetics, 39, pp. 937 - 940

Smith JM; Kirk EP; Theodosopoulos G; Marshall GM; Walker JL; Rogers M; Brereton J; Marsh DJ, 2002, 'germline mutation of the tumor supressor PTEN in Proteus syndrome', Journal of Medical Genetics, 39, pp. 937 - 940

Richards A; Kaplan BS; Kirk EP; Venning MC; Tielemans CL; Buddles M; Donne RL; Goodship JA; Goodship TH, 2001, 'Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18_20, a Domain Important for Host Cell Recognition', American Journal of Human Genetics, pp. 485 - 490

Robertson SL; Kirk EP; Bernier F; Brereton J; Turner AM; Bankier A, 1999, 'Congenital Hypertrichosis, Osteochondrodysplasia and Cardiomegaly: Cantu Syndrome', American Journal of Medical Genetics Part A, pp. 395 - 402

Kirk EP; Wilson M, 1999, 'Dominant inheritance of cleft palate with minor abnoralities ofhands and feet: a new syndrome?', Clinical Dysmorphology, pp. 193 - 197

Kirk EP; Abuckle S; Ramm PL; Ades LC, 1999, 'Severe Micrognathia, Cleft Palate, Absent Olfactory Tract and abnormal rib development: Cerebro-Costo-Mandibular Syndrome or a new syndrome', American Journal of Medical Genetics Part A, pp. 120 - 124

Kirk E; Ades L, 1998, 'Hypoplastic left heart in cerebrocostomandibular syndrome [3]', Journal of Medical Genetics, 35, pp. 879

Kirk EPE; Fletcher JM; Sharp P; Carey B; Poulos A, 1998, 'X-linked adrenoleukodystrophy: The Australasian experience', American Journal of Medical Genetics, 76, pp. 420 - 423, http://dx.doi.org/10.1002/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O

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