By Professor Edwin Philip Enfield Kirk

Journal articles

Kirk EP; Hyun C; Thomson P; Lai D; Castro ML; Biben C; Buckley MF; Martin I; Moran C; Harvey RP, 2006, 'Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse', Circulation Research, 98, pp. 651 - 658

Holyoake P; Stevenson JD; 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', Australian Veterinary Journal, 84, pp. 129 - 133

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

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 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

Conference Papers

Palmer EE; Caroll R; Shaw M; Kumar R; Nawaz U; Minoche A; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Bye A; Sachdev R; Kirk EP; Cowley MJ; Field M; Gecz J, 2020, 'RLIM is a candidate dosage sensitive gene for individuals with varying duplications of Xq13, intellectual disability and recognizable facial features.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 995 - 996, http://dx.doi.org/10.26190/unsworks/28005

Cox TC; Lidral AC; Liu H; McCoy JC; Cox LL; Zhu Y; Uribe LMM; Anand D; Deng M; Richter CT; Anderson RD; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; van Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'MUTATIONS IN GDF11 AND ITS BINDING PARTNER, FST, AS CAUSES OF OROFACIAL CLEFTING IN HUMANS', in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, WILEY, UT, Snowbird, pp. 894 - 894, presented at 40th Annual David W. Smith Workshop on Malformations and Morphogenesis, UT, Snowbird, 23 August 2019 - 28 August 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000518641400080&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Blue GM; Ip E; Walker K; Kirk EP; Loughran-Fowlds A; Sholler GF; Dunwoodie SL; Harvey RP; Giannoulatou E; Badawi N; Winlaw DS, 2017, 'Genetic Variants Explaining Neurodevelopmental Disorders in Patients With Congenital Heart Disease - Are We Ready for the Clinic?', in CIRCULATION, LIPPINCOTT WILLIAMS & WILKINS, CA, Anaheim, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, CA, Anaheim, 11 November 2017 - 15 November 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000437035905488&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Lee E; Burnett L; Runiewicz M; Kirk EP; Lew RM; Proos AL, 2017, 'Predicting the impact of expanded carrier screening on carrier detection rates and healthcare costs', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, DENMARK, Copenhagen, pp. 768 - 768, presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, DENMARK, Copenhagen, 27 May 2017 - 30 May 2017, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489312606275&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Riveron JTG; Ghosh TK; Pope M; Eason J; BuLock F; Thomborough C; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour JAL; Brook JD, 2010, 'alpha,-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects', in JOURNAL OF MEDICAL GENETICS, B M J PUBLISHING GROUP, RI, Warwick, pp. S76 - S76, presented at British Human Genetics Conference, RI, Warwick, 06 September 2010 - 08 September 2010, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000283762600155&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Wilcken B; Haas M; Joy P; Wiley VC; Bowling F; Carpenter KH; Christodoulou J; Cowley D; Ellaway C; Fletcher JM; Kirk EP; Lewis B; McGill J; Peters H; Pitt J; Ranieri E; Yaplito-Lee J; Boneh A, 2009, 'NEWBORN SCREENING BY TANDEM MASS SPECTROMETRY: A COHORT STUDY COMPARING OUTCOME IN SCREENED AND CLINICALLY DIAGNOSED PATIENTS AT SIX YEARS OF AGE', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 3 - 3, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Granados-Riveron J; Pope M; Eason J; BuLock F; Cox J; Thomborough C; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour J; Brook J, 2008, 'alpha-cardiac myosin heavy chain (MYH6) mutations are associated with congenital heart defects', in Journal of Medical Genetics, B M J Publishing Group, London, England, pp. S86 - S86, presented at Journal of Medical Genetics

Kirk EPE; Daniel A; Wu Z; Grattan-Smith PJ; Yip MY, 1999, 'Interstitial deletion (1)(qter -> p21 :: p22 -> pter) in a 22 month old boy.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, pp. A167 - A167, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000082879800915&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Robertson SP; Kirk E; Bernier F; Brereton J; Turner A; Bankier A, 1998, 'Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantu syndrome', in AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY-LISS, GERMANY, MARBURG, pp. 395 - 402, presented at International Symposium on Mosaicism in Human Skin, GERMANY, MARBURG, 22 May 1998 - 23 May 1998, http://dx.doi.org/10.1002/(SICI)1096-8628(19990806)85:4<395::AID-AJMG17>3.3.CO;2-9

Kirk EPE; Fletcher JM; Sharp P; Carey B; Poulos A, 1997, 'X-linked adrenoleukodystrophy: The Australasian experience', in AMERICAN JOURNAL OF MEDICAL GENETICS, WILEY-LISS, AUSTRIA, VIENNA, pp. 420 - 423, presented at 7th International Congress of Inborn Errors of Metabolism, AUSTRIA, VIENNA, 21 May 1997 - 25 May 1997, http://dx.doi.org/10.1002/(SICI)1096-8628(19980413)76:5<420::AID-AJMG10>3.0.CO;2-O

Conference Presentations

Kasparian NA; Deans C; Bennett BK; Sholler GF; Winlaw DS; Kirk EP, 2011, 'Pregnancy disrupted: Thinking about the experiences of mothers and fathers after fetal diagnosis of congenital heart disease', presented at World Congress of Psychotherapy, Sydney, Australia, 24 August 2011 - 28 August 2011

Conference Abstracts

Goh S; Bowden R; Pinese M; Kirk E, 2022, 'More accurate penetrance estimates for neurosusceptibility loci lead to significantly reduced penetrance estimates', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, Vol. 30, pp. 449 - 449, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779367702162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Sundercombe S; Walsh R; Hanna B; Elserafy N; Kirk E; Zhang F; Zhu Y; Buckley M; Aklilu E; Roscioli T, 2022, 'PIGV P.L472p mutation identified by exome sequencing in a neonate with a glycosylation disorder confirmed by flow cytometry', in Pathology, Elsevier BV, Vol. 54, pp. S72 - S73, http://dx.doi.org/10.1016/j.pathol.2021.12.239

Yap JY; Gloss B; Batten M; Hsu P; Berglund L; Polizzotto M; Kirk E; Deenick E; Ma C; Tangye S; Phan TG, 2019, 'EVEROLIMUS-INDUCED REMISSION OF KAPOSI'S SARCOMA SECONDARY TO CRYPTIC CTLA4 SPLICING AND HAPLOINSUFFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 49, pp. 35 - 36, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488891400106&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Palmer EE; Sachdev R; Macintosh R; Kandula T; Minoche A; Puttick C; Gayevskiy V; Roscioli T; Dinger M; Hesson L; Shoubridge C; Drew A; Davis R; Kummerfeld S; Cowley M; Bye A; Kirk E, 2019, 'How far can we go? Whole genome sequencing, periodic reanalysis and international collaborations expands our understanding of the causes of developmental and epileptic encephalopathy', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1431 - 1432, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, http://dx.doi.org/10.26190/unsworks/27545

Roessler HI; McClenaghan C; Huang Y; Halabi CM; Harter T; Savelberg S; Tessadori F; Bakkers J; Kovacs A; Remedi MS; Kirk EP; Scurr I; Smithson SF; van Haelst MM; Grange DK; Nichols CG; van Haaften G, 2019, 'Towards the treatment of Cantu syndrome', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, SWEDEN, Gothenburg, Vol. 27, pp. 1091 - 1092, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), SWEDEN, Gothenburg, 15 June 2019 - 18 June 2019, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313900105&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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