By Professor Edwin Philip Enfield Kirk

Journal articles

Smith JM; Kirk EP; Theodosopoulos G; Marshall GM; Walker JL; Rogers M; Brereton J; Marsh DJ, 2002, 'germline mutation of the tumor supressor PTEN in Proteus syndrome', Journal of Medical Genetics, 39, pp. 937 - 940

Smith JM; Kirk EPE; Theodosopoulos G; Marshall GM; Walker J; Rogers M; Field M; Brereton JJ; Marsh DJ, 2002, 'Germline mutation of the tumour suppressor PTEN in Proteus syndrome.', J Med Genet, 39, pp. 937 - 940, http://dx.doi.org/10.1136/jmg.39.12.937

Richards A; Buddles MR; Donne RL; Kaplan BS; Kirk E; Venning MC; Tielemans CL; Goodship JA; Goodship TH, 2001, 'Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.', Am J Hum Genet, 68, pp. 485 - 490, http://dx.doi.org/10.1086/318203

Robertson SP; Kirk E; Bernier F; Brereton J; Turner A; Bankier A, 1999, 'Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.', Am J Med Genet, 85, pp. 395 - 402, https://www.ncbi.nlm.nih.gov/pubmed/10398267

Kirk EP; Arbuckle S; Ramm PL; Adès LC, 1999, 'Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome?', Am J Med Genet, 84, pp. 120 - 124, https://www.ncbi.nlm.nih.gov/pubmed/10323736

Kirk EP; Wilson M, 1999, 'Dominant inheritance of cleft palate with minor abnormalities of hands and feet: a new syndrome?', Clin Dysmorphol, 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, 35, pp. 879

Kirk EP; Fletcher JM; Sharp P; Carey B; Poulos A, 1998, 'X-linked adrenoleukodystrophy: the Australasian experience.', American journal of medical genetics, 76, pp. 420 - 423, http://dx.doi.org/10.1002/(sici)1096-8628(19980413)76:5<420::aid-ajmg10>3.0.co;2-o

Conference Papers

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

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

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

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

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

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

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

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

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

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

Conference Presentations

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

Conference Abstracts

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

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

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

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

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

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, SPRINGERNATURE, ITALY, Milan, 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), ITALY, Milan, 16 June 2018 - 19 June 2018

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, VT, Stowe, Vol. 176, pp. 1529 - 1530, presented at 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, VT, Stowe, 26 August 2017 - 29 August 2017, https://www.webofscience.com/api/gateway?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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000388943400296&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Preprints

Trivellin G; Sánchez-Gaya V; Grasso A; Pasińska M; Stratakis CA; Milnes D; Kirk EP; Beckers A; Lania AG; Pétrossians P; Rada-Iglesias A; Franke M; Daly AF, 2025, Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE., http://dx.doi.org/10.1101/2025.06.27.25329768

Freeman L; Kirk E; Scully JL; Delatycki M, 2022, Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening, http://dx.doi.org/10.21203/rs.3.rs-1726721/v1

Davidson S; Shibata Y; Collard S; Laohamonthonku P; Kong K; Sun J; CIRCA ; AADRY ; Li MWY; Russell C; van Beek A; Kirk EP; Walsh R; Gray PE; Komander D; Masters SL, Dominant negative OTULIN Related Autoinflammatory Syndrome, http://dx.doi.org/10.1101/2023.03.24.23287549

Marjaneh M; Kirk EP; Patrick R; Alankerage D; Humphreys DT; Del Monte-Nieto G; Cornejo-Paramo P; Janbandhu V; Doan TB; Dunwoodie SL; Wong ES; Moran C; Martin ICA; Thomson PC; Harvey RP, Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line, http://dx.doi.org/10.1101/2022.10.31.514499

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; Palmer E, 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)), Elsevier, http://dx.doi.org/10.1016/j.ajhg.2019.03.016

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