Professor Edwin Kirk

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Contact Category:

Conjoint

Discipline:

Paediatrics

Professor Edwin Kirk is both a clinical geneticist and a genetic pathologist, a rare combination. As a clinician, he sees patients at Sydney Children's Hospital, where he has worked for more than 20 years; his laboratory practice is in the New South Wales Health Pathology Genomics Laboratory at Randwick.

Kirk is a conjoint appointee in the School of Women's and Children's Health at the University of New South Wales, an experienced medical educator, and currently Chief Examiner in Genetics for the Royal College of Pathologists of Australasia. He is also a respected researcher, working in the fields of cardiac genetics, metabolic diseases, and intellectual disability, as well as studying reproductive carrier screening, and is a co-author of more than 100 publications in scientific journals, which have been cited by other researchers more than 4,000 times. He is one of the co-leads and public faces of the $20 million Mackenzie's Mission carrier screening project.

Kirk lives in Sydney with his wife and three children. In his spare time, he competes in ocean swimming races, slowly, and plays the saxophone, loudly.

Broad Research Areas
Cardiology and Vascular Disease
Psychological Impact of Genetic Disease
Genetics - Genome Analysis
Paediatrics / Child Health

Specific Research Keywords
Atrial Septal Defect
Clinical Genetics
Chromosomal disorders
Cleft Palate

.

Society Memberships & Professional Activities
Member of HGSA, ASIEM, ASHG, AMA.
Fellow of Royal Australasian College of Physicians.
Director of Paediatric Physician Training, GESCHN

School:

Sch Women's&Children's Health

Phone:

(02) 9382 1704

Email:

e.kirk@unsw.edu.au

University role:

Conjoint Professor

Grants:

Funding Sources
Heartkids
Adolph Basser Trust
Malcolm Alan Burgess and Julia Burgess Trust
NHMRC

Research

Research activities:

Congenital heart disease (CHD) is my main research focus. There is a major genetic contribution to CHD, and my research encompasses both rare Mendelian and common non-Mendelian forms. Past approaches to gene identification have included classical mapping studies both in humans and in a mouse model, as well as candidate gene approaches. Recent and planned future studies ahve employed the power of modern genomic technologies with sequencing of the exome (all coding sequences in the genome). Concurrently, I have been involved with studies of the psychological impact of CHD on families. Other interests include chromosomal disorders and the genetics of facial clefting.

Socio-economic Objective (SEO) tags:

Child Health

Field of Research (FOR) Tag:

Paediatrics

Cardiology (incl. Cardiovascular Diseases)

Genomics

Other Psychology and Cognitive Sciences

Teaching & Supervision

I am available to supervise:

Yes

Areas of supervision:

Thesis topics for current UNSW Medicine postgraduate research students:

Genetics of Congenital Heart Disease

Teaching:

Teaching Interests

All areas of clinical genetics, taught at medical student and postgraduate
levels. Physician education in general

Media

Facebook:

https://www.facebook.com/UNSWWomensChildrensHealth/

Publications related to this Person

Journal articles

Kirk EP; Ong R; Boggs K; Hardy T; Righetti S; Kamien B; Roscioli T; Amor DJ; Bakshi M; Chung CWT; Colley A; Jamieson RV; Liebelt J; Ma A; Pachter N; Rajagopalan S; Ravine A; Wilson M; Caruana J; Casella R; Davis M; Edwards S; Archibald A; McGaughran J; Newson AJ; Laing NG; Delatycki MB, 2021, 'Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)', European Journal of Human Genetics, vol. 29, pp. 79 - 87, http://dx.doi.org/10.1038/s41431-020-0685-x

Palmer EE; Carroll R; Shaw M; Kumar R; Minoche AE; Leffler M; Murray L; Macintosh R; Wright D; Troedson C; McKenzie F; Townshend S; Ward M; Nawaz U; Ravine A; Runke CK; Thorland EC; Hummel M; Foulds N; Pichon O; Isidor B; Le Caignec C; Demeer B; Andrieux J; Albarazi SH; 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 Distinct Facial Features', American Journal of Human Genetics, vol. 107, pp. 1157 - 1169, http://dx.doi.org/10.1016/j.ajhg.2020.10.005

Thomas LA; Lewis S; Massie J; Kirk EP; Archibald AD; Barlow-Stewart K; Boardman FK; Halliday J; McClaren B; Delatycki MB, 2020, 'Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition', European Journal of Medical Genetics, vol. 63, http://dx.doi.org/10.1016/j.ejmg.2020.104075

Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system', Obstetrical and Gynecological Survey, vol. 75, pp. 662 - 664, http://dx.doi.org/10.1097/01.ogx.0000722040.32795.04

Riley LG; Rudinger-Thirion J; Frugier M; Wilson M; Luig M; Alahakoon TI; Nixon CY; Kirk EP; Roscioli T; Lunke S; Stark Z; Wierenga KJ; Palle S; Walsh M; Higgs E; Arbuckle S; Thirukeswaran S; Compton AG; Thorburn DR; Christodoulou J, 2020, 'The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy', Human Mutation, vol. 41, pp. 1425 - 1434, http://dx.doi.org/10.1002/humu.24050

Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; De Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System', JAMA - Journal of the American Medical Association, vol. 323, pp. 2503 - 2511, http://dx.doi.org/10.1001/jama.2020.7671

Delatycki MB; Alkuraya F; Archibald A; Castellani C; Cornel M; Grody WW; Henneman L; Ioannides AS; Kirk E; Laing N; Lucassen A; Massie J; Schuurmans J; Thong MK; van Langen I; Zlotogora J, 2020, 'International perspectives on the implementation of reproductive carrier screening', Prenatal Diagnosis, vol. 40, pp. 301 - 310, http://dx.doi.org/10.1002/pd.5611

Grange DK; Roessler HI; McClenaghan C; Duran K; Shields K; Remedi MS; Knoers NVAM; Lee JM; Kirk EP; Scurr I; Smithson SF; Singh GK; van Haelst MM; Nichols CG; van Haaften G, 2019, 'Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 181, pp. 658 - 681, http://dx.doi.org/10.1002/ajmg.c.31753

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, vol. 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, vol. 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, vol. 179, pp. 1585 - 1590, http://dx.doi.org/10.1002/ajmg.a.61200

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, vol. 21, pp. 1111 - 1120, http://dx.doi.org/10.1038/s41436-018-0296-x

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

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, vol. 27, pp. 669 - 670, http://dx.doi.org/10.1038/s41431-019-0356-y

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, vol. 62, pp. 397 - 404, http://dx.doi.org/10.1016/j.ejmg.2019.05.006

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, vol. 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, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, vol. 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, vol. 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, vol. 48, pp. 106 - 110, http://dx.doi.org/10.31128/AJGP-10-18-4725

Mason S; Castilla-Vallmanya 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, vol. 98, pp. e14524, http://dx.doi.org/10.1097/MD.0000000000014524

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, vol. 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, vol. 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, vol. 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, vol. 20, pp. 1387 - 1395, http://dx.doi.org/10.1038/gim.2018.16

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, vol. 30, http://dx.doi.org/10.1111/nmo.13371

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, vol. 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214

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, vol. 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, vol. 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, vol. 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, vol. 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, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 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, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, vol. 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006

Winlaw DS; Dunwoodie SL; Kirk EP, 2017, 'Four-Generation Family with Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics', Circulation: Cardiovascular Genetics, vol. 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, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, vol. 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, vol. 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, vol. 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, vol. 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, vol. 25, pp. e1 - e4, http://dx.doi.org/10.1038/ejhg.2016.185

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, vol. 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, vol. 69, pp. 859 - 870, http://dx.doi.org/10.1016/j.jacc.2016.11.060

Kirk EP, 2016, 'Zika virus: Accurate terminology matters', Nature, vol. 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, 2016, 'Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy', Human Molecular Genetics, vol. 25, pp. 3042 - 3054, http://dx.doi.org/10.1093/hmg/ddw157

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, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, vol. 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: Gut', Journal of paediatrics and child health, vol. 51, pp. 746, http://dx.doi.org/10.1111/jpc.12739

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, vol. 167, pp. 296 - 312, http://dx.doi.org/10.1002/ajmg.a.36887

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, vol. 178, pp. 124 - 130, http://dx.doi.org/10.1016/j.ijcard.2014.10.119

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

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

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

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, vol. 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, vol. 34, pp. 598 - 604, http://dx.doi.org/10.1002/pd.4363

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

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, vol. 64, pp. 2498 - 2506, http://dx.doi.org/10.1016/j.jacc.2014.09.048

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, vol. 16, pp. 460 - 468, 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 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, vol. 48, pp. 952, http://dx.doi.org/10.1111/j.1440-1754.2012.02561.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, vol. 35, pp. 1119 - 1128, http://dx.doi.org/10.1007/s10545-012-9461-6

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, vol. 43, pp. 97 - 101, http://dx.doi.org/10.1111/j.1365-2052.2012.02383.x

Blue GM; Kirk EP; Sholler GF; Winlaw DS, 2012, 'Congenital heart disease: Current knowledge about causes and inheritance', Medical Journal of Australia, vol. 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, vol. 44, pp. 793 - 796, http://dx.doi.org/10.1038/ng.2324

Marsh DJ; Trahair TN; Kirk EP, 2011, 'Mutant AKT1 in Proteus Syndrome', New England Journal of Medicine, vol. 365, pp. 2141 - 2142, http://dx.doi.org/10.1056/NEJMc1111367

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, vol. 6, pp. e20711, http://dx.doi.org/10.1371/journal.pone.0020711

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, vol. 155, pp. 2416 - 2421, http://dx.doi.org/10.1002/ajmg.a.34187

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, vol. 20, pp. 731 - 733, http://dx.doi.org/10.1016/j.hlc.2011.03.003

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, vol. 7, pp. 1 - 37, http://dx.doi.org/10.1111/j.1747-0803.2011.00573.x

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, vol. 155, pp. 2203 - 2211, http://dx.doi.org/10.1002/ajmg.a.34147

Williams GD; Kirk EP; Wilson CJ; Meadows C; Chan BS, 2011, 'Salicylate intoxication from teething gel in infancy', MJA Open, vol. 194, pp. 146 - 148, https://www.ncbi.nlm.nih.gov/pubmed/21299491

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

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, vol. 155, pp. 508 - 518, http://dx.doi.org/10.1002/ajmg.a.33885

Elliott DA; Kirk EP; Schaft D; Harvey RP, 2010, 'NK-2 Class Homeodomain Proteins. Conserved Regulators of Cardiogenesis', Heart Development and Regeneration, 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, vol. 55, pp. 18 - 22, http://dx.doi.org/10.1038/jhg.2009.113

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, vol. 14, pp. 797 - 802, http://dx.doi.org/10.1089/gtmb.2010.0028

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, vol. 19, pp. 4007 - 4016, http://dx.doi.org/10.1093/hmg/ddq315

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, vol. 4, pp. 361 - 364, http://dx.doi.org/10.1186/1752-1947-4-361

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, vol. 1, pp. 35 - 41, http://dx.doi.org/10.1159/000274491

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, vol. 330, pp. 336, http://dx.doi.org/10.1126/science.1192632

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, vol. 75, pp. 301 - 303, http://dx.doi.org/10.1111/j.1399-0004.2008.01102.x

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, vol. 124, pp. e241 - e248, 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, vol. 97, pp. 315 - 315, http://dx.doi.org/10.1016/j.ymgme.2009.04.012

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, vol. 46, pp. 480 - 489, http://dx.doi.org/10.1136/jmg.2008.065391

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, vol. 5, pp. 357 - 361, http://dx.doi.org/10.1038/ncponc1112

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, vol. 51, pp. 148 - 155, http://dx.doi.org/10.1016/j.ejmg.2007.11.005

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, vol. 81, pp. 280 - 291, http://dx.doi.org/10.1086/519530

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, vol. 38, pp. 620 - 622, http://dx.doi.org/10.1038/ng1780

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, vol. 98, pp. 651 - 658, http://dx.doi.org/10.1161/01.RES.0000209965.59312.aa

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, vol. 84, pp. 129 - 133, http://dx.doi.org/10.1111/j.1751-0813.2006.tb13395.x

Suttor V; Plit ML; Kirk EP; Glanville AR, 2006, 'Angiodysplasia and Noonan syndrome: a new association', Internal Medicine Journal, vol. 36, pp. 333 - U8, http://dx.doi.org/10.1111/j.1445-5994.2006.01060.x

Kirk EP, 2005, 'Classification of stillbirth: Classification is not explanation', BMJ, vol. 331, pp. 1269, http://dx.doi.org/10.1136/bmj.331.7527.1269-b

Kirk EP; Sebire NJ; Erwich JJHM; Gardosi J, 2005, 'Classification of stillbirth [2] (multiple letters)', British Medical Journal, vol. 331, pp. 1269 - 1270

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, vol. 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, vol. 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, vol. 182, pp. 116 - 118

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, vol. 94, pp. 114 - 116, http://dx.doi.org/10.1080/08035250410018300

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, vol. 137A, pp. 223 - 224, http://dx.doi.org/10.1002/ajmg.a.30740

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, vol. 28, pp. 525 - 532, http://dx.doi.org/10.1007/s10545-005-0525-8

Kirk EP, 2004, 'The fog of expectation', BMJ, vol. 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, vol. 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, vol. 130 A, pp. 214 - 215, http://dx.doi.org/10.1002/ajmg.a.30337

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, vol. 124A, pp. 307 - 312

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), vol. 40, pp. 401 - 403, http://dx.doi.org/10.1111/j.1440-1754.2004.00411.x

Kirk EP; Smith JM; Field M; Marshall GM; Marsh DJ, 2004, 'Diagnosis of proteus syndrome was correct', American Journal of Medical Genetics Part A, vol. 130A, pp. 214 - 215, http://dx.doi.org/10.1002/ajmg.a.30337

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, vol. 114, pp. 837 - 845, http://dx.doi.org/10.1172/JCI20683

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, vol. 23, pp. 47 - 56, http://dx.doi.org/10.1002/humu.10286

Kirk EP, 2003, 'Treatment by deception is bad medicine [6]', Lancet, vol. 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, vol. 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, vol. 326, pp. 53

Kirk EP; Isaacs D, 2003, 'To kill or let die? [1] (multiple letters)', Journal of Paediatrics and Child Health, vol. 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, vol. 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, vol. 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, vol. 67, pp. 107 - 114, http://dx.doi.org/10.1101/sqb.2002.67.107

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, vol. 39, pp. 937 - 940

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, vol. 39, pp. 937 - 940

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, vol. 11, pp. 237 - 241, http://dx.doi.org/10.1097/00019605-200210000-00002

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, vol. 68, pp. 485 - 490, http://dx.doi.org/10.1086/318203

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, vol. 84, pp. 120 - 124, http://dx.doi.org/10.1002/(SICI)1096-8628(19990521)84:2<120::AID-AJMG7>3.0.CO;2-3

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, vol. 85, pp. 395 - 402, http://dx.doi.org/10.1002/(SICI)1096-8628(19990806)85:4<395::AID-AJMG17>3.0.CO;2-I

Kirk EP; Wilson M, 1999, 'Dominant inheritance of cleft palate with minor abnoralities ofhands and feet: a new syndrome?', Clinical Dysmorphology, vol. 8, pp. 193 - 197, https://www.ncbi.nlm.nih.gov/pubmed/10457853

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

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, Snowbird, UT, pp. 894 - 894, presented at 40th Annual David W. Smith Workshop on Malformations and Morphogenesis, Snowbird, UT, 23 August 2019 - 28 August 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, Anaheim, CA, presented at Scientific Sessions of the American-Heart-Association / Resuscitation Science Symposium, Anaheim, CA, 11 November 2017 - 15 November 2017, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, Copenhagen, DENMARK, pp. 768 - 768, presented at 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, 27 May 2017 - 30 May 2017, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, Warwick, RI, pp. S76 - S76, presented at British Human Genetics Conference, Warwick, RI, 06 September 2010 - 08 September 2010, http://gateway.webofknowledge.com/gateway/Gateway.cgi?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, San Diego, CA, pp. 3 - 3, presented at 11th International Conference of Inborn Errors of Metabolism, San Diego, CA, 29 August 2009 - 02 September 2009, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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', in Pregnancy disrupted: Thinking about the experiences of mothers and fathers after fetal diagnosis of congenital heart disease, World Congress of Psychotherapy, Sydney, Australia, presented at World Congress of Psychotherapy, Sydney, Australia, 24 August 2011 - 28 August 2011

Conference Abstracts

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, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000488891400106&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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, Gothenburg, SWEDEN, Vol. 27, pp. 1091 - 1092, presented at 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, 15 June 2019 - 18 June 2019, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313900105&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche A; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger ME; Rosenfeld JA; Xiao R; Cho MT; Henderson LB; Sacoto MJG; Begtrup A; Hamad M; Shinawi M; Andrews M; Jones MC; Lindstrom K; Kayani S; Snyder M; Villanueva M; Schteinschnaider A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko L; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2018, 'De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, Milan, ITALY, Vol. 27, pp. 213 - 214, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, ITALY, 16 June 2018 - 19 June 2018, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101215&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Grange DK; Singh GK; Nichols CG; Lee J-M; Remedi MS; Smithson SF; Scurr I; Kirk EP; van Haelst M; van Haaften G, 2017, 'CANTU SYNDROME NATURAL HISTORY STUDIES: CLINICAL INVESTIGATIONS ON 18 PATIENTS AND REPORT ON INTERNATIONAL REDCAP REGISTRY DATA ON 58 PATIENTS', in AMERICAN JOURNAL OF MEDICAL GENETICS PART A, WILEY, Stowe, VT, Vol. 176, pp. 1529 - 1530, presented at 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, Stowe, VT, 26 August 2017 - 29 August 2017, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000434040600163&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Kasparian NA; Nielson-Jones C; Glover V; Swinsburg D; Walker K; Badawi N; Austin M-P; Barnett B; Grant K-A; Kirk EP; Winlaw DS; Sholler GF, 2016, 'PSYCHOBIOLOGICAL OUTCOMES IN PARENTS AND THEIR INFANTS AFTER FETAL OR POSTNATAL DIAGNOSIS OF COMPLEX CONGENITAL HEART DISEASE', in INTERNATIONAL JOURNAL OF BEHAVIORAL MEDICINE, SPRINGER, Vol. 23, pp. S93 - S93, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388943400296&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Other

Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; 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, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), http://dx.doi.org/10.1016/j.ajhg.2019.03.016

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Professor Edwin Kirk

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