By Professor Edwin Philip Enfield Kirk

Journal articles

Kasparian NA; De Abreu Lourenco R; Winlaw DS; Sholler GF; Viney R; Kirk EPE, 2018, 'Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease', Genetics in Medicine, 20, pp. 1387 - 1395, http://dx.doi.org/10.1038/gim.2018.16

Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T, 2018, 'A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations', Genetics in Medicine, 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214

Ravenscroft G; Pannell S; O'Grady G; Ong R; Ee HC; Faiz F; Marns L; Goel H; Kumarasinghe P; Sollis E; Sivadorai P; Wilson M; Magoffin A; Nightingale S; Freckmann ML; Kirk EP; Sachdev R; Lemberg DA; Delatycki MB; Kamm MA; Basnayake C; Lamont PJ; Amor DJ; Jones K; Schilperoort J; Davis MR; Laing NG, 2018, 'Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction', Neurogastroenterology and Motility, 30, http://dx.doi.org/10.1111/nmo.13371

Dagar V; Hutchison W; Muscat A; Krishnan A; Hoke D; Buckle A; Siswara P; Amor DJ; Mann J; Pinner J; Colley A; Wilson M; Sachdev R; McGillivray G; Edwards M; Kirk E; Collins F; Jones K; Taylor J; Hayes I; Thompson E; Barnett C; Haan E; Freckmann ML; Turner A; White S; Kamien B; Ma A; Mackenzie F; Baynam G; Kiraly-Borri C; Field M; Dudding-Byth T; Algar EM, 2018, 'Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome', Clinical Epigenetics, 10, http://dx.doi.org/10.1186/s13148-018-0546-4

Blue GM; Ip E; Walker K; Kirk EP; Loughran-Fowlds A; Sholler GF; Dunwoodie SL; Harvey RP; Giannoulatou E; Badawi N; Winlaw DS, 2018, 'Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease', American Heart Journal, 201, pp. 33 - 39, http://dx.doi.org/10.1016/j.ahj.2018.03.021

Cox LL; Cox TC; Moreno Uribe LM; Zhu Y; Richter CT; Nidey N; Standley JM; Deng M; Blue E; Chong JX; Yang Y; Carstens RP; Anand D; Lachke SA; Smith JD; Dorschner MO; Bedell B; Kirk E; Hing AV; Venselaar H; Valencia-Ramirez LC; Bamshad MJ; Glass IA; Cooper JA; Haan E; Nickerson DA; van Bokhoven H; Zhou H; Krahn KN; Buckley MF; Murray JC; Lidral AC; Roscioli T, 2018, 'Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate', American Journal of Human Genetics, 102, pp. 1143 - 1157, http://dx.doi.org/10.1016/j.ajhg.2018.04.009

O’Neill AC; Kyrousi C; Einsiedler M; Burtscher I; Drukker M; Markie DM; Kirk EP; Götz M; Robertson SP; Cappello S, 2018, 'Mob2 insufficiency disrupts neuronal migration in the developing cortex', Frontiers in Cellular Neuroscience, 12, http://dx.doi.org/10.3389/fncel.2018.00057

Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK; Palmer E, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355

Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY; Palmer E, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006

Cliffe C; Elakis G; Zhu Y; Mullan G; Mead R; Kirk E; Lau C; Buckley MF; Roscioli T, 2018, 'The validation of a diagnostic exome sequencing service for the investigation of monogenic disorders', Pathology, 50, pp. S63 - S64, http://dx.doi.org/10.1016/j.pathol.2017.12.149

Winlaw DS; Dunwoodie SL; Kirk EP, 2017, 'Four-Generation Family with Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics', Circulation Cardiovascular Genetics, 10, http://dx.doi.org/10.1161/CIRCGENETICS.117.001967

Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A; Palmer E, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088

Gray PE; Shadur B; Russell S; Mitchell R; Buckley M; Gallagher K; Andrews I; Thia K; Trapani JA; Kirk EP; Voskoboinik I, 2017, 'Late-onset Non-HLH presentations of growth arrest, inflammatory arachnoiditis, and severe infectious mononucleosis, in siblings with hypomorphic defects in UNC13D', Frontiers in Immunology, 8, http://dx.doi.org/10.3389/fimmu.2017.00944

Kirk EP, 2017, 'Genes, Environment, and the Heart: Putting the Pieces Together', Circulation Cardiovascular Genetics, 10, http://dx.doi.org/10.1161/CIRCGENETICS.117.001764

Kasparian NA; Lieu N; Winlaw DS; Cole A; Kirk E; Sholler GF, 2017, 'EHealth literacy and preferences for eHealth resources in parents of children with complex CHD', Cardiology in the Young, 27, pp. 722 - 730, http://dx.doi.org/10.1017/S1047951116001177

Kirk EP; Scurr I; Van Haaften G; Van Haelst MM; Nichols CG; Williams M; Smithson SF; Grange DK, 2017, 'Clinical utility gene card for: Cantú syndrome', European Journal of Human Genetics, 25, pp. e1 - e4, http://dx.doi.org/10.1038/ejhg.2016.185

Palmer EE; Sachdev R; Kandula T; Macintosh R; Kirk E; Bye A, 2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11, http://dx.doi.org/10.1002/9780470015902.a0026922

Blue GM; Humphreys D; Szot J; Major J; Chapman G; Bosman A; Kirk EP; Sholler GF; Harvey RP; Dunwoodie SL; Winlaw DS, 2017, 'The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease', International Journal of Cardiology, 230, pp. 155 - 163, http://dx.doi.org/10.1016/j.ijcard.2016.12.024

Blue GM; Kirk EP; Giannoulatou E; Sholler GF; Dunwoodie SL; Harvey RP; Winlaw DS, 2017, 'Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide', Journal of the American College of Cardiology, 69, pp. 859 - 870, http://dx.doi.org/10.1016/j.jacc.2016.11.060

Kirk EP, 2016, 'Zika virus: Accurate terminology matters', Nature, 531, pp. 173, http://dx.doi.org/10.1038/531173b

Palmer EE; Jarrett KE; Sachdev RK; Zahrani FA; Hashem MO; Ibrahim N; Sampaio H; Kandula T; Macintosh R; Gupta R; Conlon DM; Billheimer JT; Rader DJ; Funato K; Walkey CJ; Lee CS; Loo C; Brammah S; Elakis G; Zhu Y; Buckley M; Kirk EP; Bye A; Alkuraya FS; Roscioli T; Lagor WR; Palmer E, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157

Kirk E, 2016, 'Challenging variant interpretation in cardiac genetics', Pathology, 48, pp. S29 - S29, http://dx.doi.org/10.1016/j.pathol.2015.12.068

Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP; Palmer E, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007

Kirk E, 2015, 'Hitchhiker’s guide to the literature', Journal of Paediatrics and Child Health, 51, pp. 746, http://dx.doi.org/10.1111/JPC.12739

Kirk E, 2015, 'Hitchhiker's guide to the literature: Journal: World Journal of Paediatrics', Journal of Paediatrics and Child Health, 51, pp. 468, http://dx.doi.org/10.1111/jpc.12738

Crow YJ; Chase DS; Lowenstein Schmidt J; Szynkiewicz M; Forte GMA; Gornall HL; Oojageer A; Anderson B; Pizzino A; Helman G; Abdel-Hamid MS; Abdel-Salam GM; Ackroyd S; Aeby A; Agosta G; Albin C; Allon-Shalev S; Arellano M; Ariaudo G; Aswani V; Babul-Hirji R; Baildam EM; Bahi-Buisson N; Bailey KM; Barnerias C; Barth M; Battini R; Beresford MW; Bernard G; Bianchi M; Billette de Villemeur T; Blair EM; Bloom M; Burlina AB; Luisa Carpanelli M; Carvalho DR; Castro-Gago M; Cavallini A; Cereda C; Chandler KE; Chitayat DA; Collins AE; Sierra Corcoles C; Cordeiro NJV; Crichiutti G; Dabydeen L; Dale RC; Darrigo S; De Goede CGEL; De Laet C; De Waele LMH; Denzler I; Desguerre I; Devriendt K; Di Rocco M; Fahey MC; Fazzi E; Ferrie CD; Figueiredo A; Gener B; Goizet C; Gowrinathan NR; Gowrishankar K; Hanrahan D; Isidor B; Kara B; Khan N; King MD; Kirk EP; Kumar R; Lagae L; Landrieu P; Lauffer H; Laugel V; Piana RL; Lim MJ; Lin JPSM; Linnankivi T; Mackay MT; Marom DR; Marques Lourenço C; Mckee SA; Moroni I; Morton JEV; Moutard ML; Murray K; Nabbout R; Nampoothiri S; Nunez-Enamorado N; Oades PJ; Olivieri I; Ostergaard JR; Pérez-Dueñas B; Prendiville JS; Ramesh V; Rasmussen M; Régal L; Ricci F; Rio M; Rodriguez D, 2015, 'Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1', American Journal of Medical Genetics Part A, 167, pp. 296 - 312, http://dx.doi.org/10.1002/ajmg.a.36887

Kirk EP, 2015, 'An explosion, a tsunami, a runaway train: Half a century of genetics', Journal of Paediatrics and Child Health, 51, pp. 3 - 7, http://dx.doi.org/10.1111/jpc.12799

Blue GM; Kasparian NA; Sholler GF; Kirk EP; Winlaw DS, 2015, 'Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning', International Journal of Cardiology, 178, pp. 124 - 130, http://dx.doi.org/10.1016/j.ijcard.2014.10.119

Kirk E, 2015, 'Hitchhiker's guide to the literature: Journal: Nature', Journal of Paediatrics and Child Health, 51, pp. 128, http://dx.doi.org/10.1111/jpc.12737

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.', J Am Coll Cardiol, 64, pp. 2498 - 2506, http://dx.doi.org/10.1016/j.jacc.2014.09.048

Kirk E, 2014, 'Hitchhiker's guide to the literature: Journal: Cell', Journal of Paediatrics and Child Health, 50, pp. 843, http://dx.doi.org/10.1111/jpc.12736

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

Kasparian NA; Fidock B; Sholler GF; Camphausen C; Murphy DN; Cooper SG; Kaul R; Jones O; Winlaw DS; Kirk EPE, 2014, 'Parents' perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance.', Genet Med, 16, pp. 460 - 468, http://dx.doi.org/10.1038/gim.2013.169

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

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; FORGE Canada Consortium ; 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 J Rare Dis, 8, pp. 63, http://dx.doi.org/10.1186/1750-1172-8-63

Blue GM; Kirk EP; Sholler GF; Harvey RP; Winlaw DS, 2012, 'Congenital heart disease: current knowledge about causes and inheritance.', Med J Aust, 197, pp. 155 - 159, http://dx.doi.org/10.5694/mja12.10811

Harakalova M; van Harssel JJT; Terhal PA; van Lieshout S; Duran K; Renkens I; Amor DJ; Wilson LC; Kirk EP; Turner CLS; Shears D; Garcia-Minaur S; Lees MM; Ross A; Venselaar H; Vriend G; Takanari H; Rook MB; van der Heyden MAG; Asselbergs FW; Breur HM; Swinkels ME; Scurr IJ; Smithson SF; Knoers NV; van der Smagt JJ; Nijman IJ; Kloosterman WP; van Haelst MM; van Haaften G; Cuppen E, 2012, 'Dominant missense mutations in ABCC9 cause Cantú syndrome.', Nat Genet, 44, pp. 793 - 796, http://dx.doi.org/10.1038/ng.2324

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

Granados-Riveron JT; Pope M; Bu'lock FA; Thornborough C; Eason J; Setchfield K; Ketley A; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Brook JD, 2012, 'Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.', Congenit Heart Dis, 7, pp. 151 - 159, http://dx.doi.org/10.1111/j.1747-0803.2011.00573.x

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 A; Mamoune A; Mathew S; Kirk E; Viollet L; Rahman S; Bekri S; Peters H; McGill J; Glamuzina E; Farrar M; von der Hagen M; Alexander IE; Kirmse B; Barth M; Laforet P; Benlian P; Munnich A; JeanPierre M; Elpeleg O; Pines O; Delahodde A; de Keyzer Y; de Lonlay P, 2012, 'Study of LPIN1, LPIN2 and LPIN3 in rhabdomyolysis and exercise-induced myalgia.', J Inherit Metab Dis, 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6

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