By Professor Edwin Philip Enfield Kirk

Journal articles

Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; 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 the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans', Human Mutation, 40, pp. 1813 - 1825, http://dx.doi.org/10.1002/humu.23793

Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; DInger M; Buckley M; Roscioli T, 2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019

Ma A; Gurnasinghani S; Kirk EP; McClenaghan C; Singh GK; Grange DK; Pandit C; Zhu Y; Roscioli T; Elakis G; Buckley M; Mehta B; Roberts P; Mervis J; Biggin A; Nichols CG, 2019, 'Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience', American Journal of Medical Genetics, Part A, 179, pp. 1585 - 1590, http://dx.doi.org/10.1002/ajmg.a.61200

Delatycki MB; Laing N; Kirk E, 2019, 'Expanded reproductive carrier screening—how can we do the most good and cause the least harm?', European Journal of Human Genetics, 27, pp. 669 - 670, http://dx.doi.org/10.1038/s41431-019-0356-y

Alankarage D; Ip E; Szot JO; Munro J; Blue GM; Harrison K; Cuny H; Enriquez A; Troup M; Humphreys DT; Wilson M; Harvey RP; Sholler GF; Graham RM; Ho JWK; Kirk EP; Pachter N; Chapman G; Winlaw DS; Giannoulatou E; Dunwoodie SL, 2019, 'Identification of clinically actionable variants from genome sequencing of families with congenital heart disease', Genetics in Medicine, 21, pp. 1111 - 1120, http://dx.doi.org/10.1038/s41436-018-0296-x

Fleming J; Terrill B; Dziadek M; Kirk EP; Roscioli T; Barlow-Stewart K, 2019, 'Personal genomic screening: How best to facilitate preparedness of future clients', European Journal of Medical Genetics, 62, pp. 397 - 404, http://dx.doi.org/10.1016/j.ejmg.2019.05.006

Kirk EP; Barlow-Stewart K; Josephi-Taylor S; Roscioli T, 2019, 'Response to Suthers and Mina', Genetics in Medicine, 21, pp. 1258, http://dx.doi.org/10.1038/s41436-018-0318-8

Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia', Journal of Genetic Counseling, 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST; Palmer E, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013

Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9

Delatycki MB; Laing NG; Moore SJ; Emery J; Archibald AD; Massie J; Kirk EP, 2019, 'Preconception and antenatal carrier screening for genetic conditions: The critical role of general practitioners', Australian Journal of General Practice, 48, pp. 106 - 110, http://dx.doi.org/10.31128/AJGP-10-18-4725

Mason S; Castilla-Vallmany L; James C; Andrews PI; Balcells S; Grinberg D; Kirk EP; Urreizti R, 2019, 'Case report of a child bearing a novel deleterious splicing variant in PIGT', Medicine (United States), 98, http://dx.doi.org/10.1097/MD.0000000000014524

Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Front Cover, Volume 40, Issue 10', Human Mutation, 40, http://dx.doi.org/10.1002/humu.23923

Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.', J Genet Couns, 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5

O'Neill AC; Kyrousi C; Klaus J; Leventer RJ; Kirk EP; Fry A; Pilz DT; Morgan T; Jenkins ZA; Drukker M; Berkovic SF; Scheffer IE; Guerrini R; Markie DM; Götz M; Cappello S; Robertson SP, 2018, 'A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration', Cell Reports, 25, pp. 2729 - 2741.e6, http://dx.doi.org/10.1016/j.celrep.2018.11.029

Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39

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; Palmer E, 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

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

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