By Professor Edwin Philip Enfield Kirk

Journal articles

Lynch DC; Revil T; Schwartzentruber J; Bhoj EJ; Innes AM; Lamont RE; Lemire EG; Chodirker BN; Taylor JP; Zackai EH; McLeod DR; Kirk EP; Hoover-Fong J; Fleming L; Savarirayan R; Boycott K; MacKenzie A; Majewski J; Brudno M; Bulman D; Dyment D; Jerome-Majewska LA; Parboosingh JS; Bernier FP, 2014, 'Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome', Nature Communications, 5, http://dx.doi.org/10.1038/ncomms5483

Sinnerbrink IB; Meiser B; Halliday J; Sherwen A; Amor DJ; Waters E; Rea F; Evans E; Rahman B; Kirk EP, 2014, 'Prenatally detected de novo apparently balanced chromosomal rearrangements: The effect on maternal worry, family functioning and intent of disclosure', Prenatal Diagnosis, 34, pp. 598 - 604, http://dx.doi.org/10.1002/pd.4363

Kirk EP, 2014, 'Investigation of cardiac death - what is (technically) possible?', Pathology, 46, pp. S26 - S26, http://dx.doi.org/10.1097/01.pat.0000443463.72635.1c

Kirk EP, 2014, 'Investigation of cardiac death - what is (technically) possible?', Pathology, 46, pp. S20 - S20, http://dx.doi.org/10.1097/01.pat.0000443452.88775.ee

Blue GM; Kirk EP; Giannoulatou E; Dunwoodie SL; Ho JWK; Hilton DCK; White SM; Sholler GF; Harvey RP; Winlaw DS, 2014, 'Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease', Journal of the American College of Cardiology, 64, pp. 2498 - 2506, http://dx.doi.org/10.1016/j.jacc.2014.09.048

Kirk E; Moradi Marjaneh M; Thomson P; Doan T; Martin I; Moran C; Harvey R, 2014, 'Use of a murine Advanced Intercross Line combined with whole genome sequencing and transcriptome analysis confirms previously discovered QTL and identifies candidate genetic loci for cardiac atrial septal morphology.', Heart Lung Circ, 23 Suppl 2, pp. e12, http://dx.doi.org/10.1016/j.hlc.2014.07.031

Kasparian NA; Fidock B; Sholler GF; Camphausen C; Murphy DN; Cooper SG; Kaul R; Jones O; Winlaw DS; Kirk EPE, 2013, 'Parents’ perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance', Genetics in Medicine, http://dx.doi.org/10.1038/gim.2013.169

Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; Mcgaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; Mcgillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF, 2013, 'Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378

Lim SC; Friemel M; Marum JE; Tucker EJ; Bruno DL; Riley LG; Christodoulou J; Kirk EP; Boneh A; DeGennaro CM; Springer M; Mootha VK; Rouault TA; Leimkühler S; Thorburn DR; Compton AG, 2013, 'Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes', Human Molecular Genetics, 22, pp. 4460 - 4473, http://dx.doi.org/10.1093/hmg/ddt295

Nota B; Hamilton EM; Sie D; Ozturk S; van Dooren SJM; Fernandez Ojeda MR; Jakobs C; Christensen E; Kirk EP; Sykut-Cegielska J; Lund AM; van der Knaap MS; Salomons GS, 2013, 'Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing', Journal of Medical Genetics, 50, pp. 754 - 759, http://dx.doi.org/10.1136/jmedgenet-2013-101961

Sinnerbrink IB; Sherwen A; Meiser B; Halliday J; Amor DJ; Waters E; Rea F; Evans E; Rahman B; Kirk EP, 2013, 'Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement', Prenatal Diagnosis, 33, pp. 831 - 838, http://dx.doi.org/10.1002/pd.4131

Mark PR; Radlinski BC; Core N; Fryer A; Kirk EP; Haldeman-Englert CR, 2013, 'Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions', American Journal of Medical Genetics, Part A, 161, pp. 1117 - 1121, http://dx.doi.org/10.1002/ajmg.a.35791

Nikkel SM; Dauber A; de Munnik S; Connolly M; Hood RL; Caluseriu O; Hurst J; Kini U; Nowaczyk MJM; Afenjar A; Albrecht B; Allanson JE; Balestri P; Ben-Omran T; Brancati F; Cordeiro I; da Cunha BS; Delaney LA; Destrée A; Fitzpatrick D; Forzano F; Ghali N; Gillies G; Harwood K; Hendriks YMC; Héron D; Hoischen A; Honey EM; Hoefsloot LH; Ibrahim J; Jacob CM; Kant SG; Kim CA; Kirk EP; Knoers NVAM; Lacombe D; Lee C; Lo IFM; Lucas LS; Mari F; Mericq V; Moilanen JS; Møller ST; Moortgat S; Pilz DT; Pope K; Price S; Renieri A; Sá J; Schoots J; Silveira EL; Simon MEH; Slavotinek A; Temple IK; van der Burgt I; de Vries BBA; Weisfeld-Adams JD; Whiteford ML; Wierczorek D; Wit JM; Yee CFO; Beaulieu CL; White SM; Bulman DE; Bongers E; Brunner H; Feingold M; Boycott KM, 2013, 'The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP', Orphanet Journal of Rare Diseases, 8, pp. 63 - 63, http://dx.doi.org/10.1186/1750-1172-8-63

Kirk EP, 2012, ''Nasal' speech-hyper or hypo', European Journal of Human Genetics, 20, pp. 367, http://dx.doi.org/10.1038/ejhg.2011.228

Kirk E, 2012, 'Hitchhiker's guide to the literature.', Journal of paediatrics and child health, 48, pp. 952, http://dx.doi.org/10.1111/j.1440-1754.2012.02561.x

Blue GM; Kirk EP; Sholler GF; Winlaw DS, 2012, 'Congenital heart disease: Current knowledge about causes and inheritance', Medical Journal of Australia, 197, pp. 155 - 159, http://dx.doi.org/10.5694/mja12.108110025729X

Harakalova M; Van harssel JJT; Terhal P; Van lieshout S; Duran K; Kirk EP, 2012, 'Dominant missense mutations in ABCC9 cause Cantúsyndrome', Nature Genetics, 44, pp. 793 - 796, http://dx.doi.org/10.1038/ng.2324

Moradi marjaneh M; Martin ICA; Kirk EP; Harvey RP; Moran C; Thomsen PC, 2012, 'QTL mapping of complex binary traits in an advanced intercross line', Animal Genetics, 43, pp. 97 - 101, http://dx.doi.org/10.1111/j.1365-2052.2012.02383.x

Michot C; Hubert L; Romero NB; Gouda AS; Mamoune A; Mathew SJ; Kirk EP; Viollet L; Rahman S; Bekri S; Peters HL; McGill J; Glamuzina E; Farrar MA; Von der hagen M; Alexander I; Kirmse B; Barth M; Laforet P; Benlian P; Munnich A; Elpeleg ON; Pines O; Delahodde A; De keyzer Y; De lonlay P, 2012, 'Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia', Journal of Inherited Metabolic Disease, 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6

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

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

Prada CE; Al Jasmi F; Kirk EP; Hopp M; Jones OD; Lesley ND; Burrow A, 2011, 'Cardiac disease in methylmalonic acidemia', Journal of Pediatrics, 159, pp. 862 - 864, http://dx.doi.org/10.1016/j.jpeds.2011.06.005

Granados-Riveron J; Pope M; BuLock F; Thomborough C; Eason J; Setchfield K; Ketley A; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Brook JD, 2011, 'Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations', Congenital Heart Disease, 7, pp. 1 - 37, http://dx.doi.org/10.1111/j.1747-0803.2011.00573.x

Moradi marjaneh M; Kirk EP; Posch MG; Ozcelik C; Berger F; Hetzer R; Otway R; Butler TL; Blue GM; Griffiths L; Fatkin D; Martinson JJ; Winlaw D; 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

Burkitt Wright E; White S; de Leeuw N; Vulto-van Silfhout A; Stewart F; McKee S; Mansour S; Connell F; Chopra M; Kirk EP; Devriendt K; Reardon W; Brunner H; Donnai D, 2011, 'Pierpont Syndrome: a collaborative study', American Journal of Medical Genetics Part A, 155, pp. 2203 - 2211, http://dx.doi.org/10.1002/ajmg.a.34147

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

Williams GD; Kirk EP; Wilson CJ; Meadows C; Chan BS, 2011, 'Salicylate intoxication from teething gel in infancy', MJA Open, 194, pp. 146 - 148

Esposito G; Butler TL; Blue GM; 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', American Journal of Medical Genetics Part A, 155, 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

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

Granados-riveron J; Ghosh TK; Pope M; Bu''Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour J; Brook JD, 2010, 'Alpha-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects', Human Molecular Genetics, 19, pp. 4007 - 4016, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20656787

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 MR; Joy P; Wiley V; Bowling F; Carpenter K; Christodoulou J; Cowley DM; Ellaway C; Peters HL; Fletcher J; Kirk EP; Lewis BE; McGill J; Pitt JI; Ranieri E; Yaplito-Lee J; Boneh A, 2009, 'Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years', Pediatrics, 124, 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 T; Aftimos S; Worgan L; Susman R; Wilson MR; Ghedia S; Kirk EP; Love D; Ronan A; Darmanian A; Slavotinek A; Hogue J; Moeschler J; Ozmore J; Widmer R; Savarirayan R; Peters G, 2009, 'Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome', Journal of Medical Genetics, 46, pp. 480 - 489, http://dx.doi.org/10.1136/jmg.2008.065391

Kirk EP; Malaty-Brevaud V; Martini NY; Lacoste C; Levy N; Maclean K; Davies LA; Philip N; Badens C, 2009, 'The clinical variability of the MECP2 duplication syndrome: Description of two families with duplications excluding L1CAM and FLNA', Clinical Geriatrics, 75, pp. 301 - 303

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 J; Chee W; Walker JL; Kirk EP; Baxter RC; Marshall GM, 2008, 'Rapamycin treatment for a child with germline PTEN mutation', Nature Clinical Practice Oncology, 5, pp. 357 - 361, http://dx.doi.org/10.1038/ncponc1112

Kirk EP; Sunde M; Costa M; Rankin S; Wolstein O; Castro ML; Butler T; Hyun C; Guo G; Otway R; Mackay J; Waddell L; Cole A; Hayward CS; Keogh AM; Macdonald PS; Griffiths L; Fatkin D; Sholler G; Zorn AM; Feneley MP; Winlaw D; Harvey RP; Butler , 2007, 'Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiornyopathy', American Journal of Human Genetics, 81, pp. 280 - 291

Suttor V; Plit ML; Kirk EP; Glanville AR, 2006, 'Angiodysplasia and Noonan syndrome: a new association', Internal Medicine Journal, 36, pp. 333 - U8

Roscioli T; Cliffe ST; Bloch D; Bell C; Mullan GL; 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', Nature Genetics, 38, pp. 620 - 622

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

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