Professor Edwin Kirk

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Professor Edwin Kirk is a clinical geneticist at Sydney Children's Hospital and a genetic pathologist at NSW Health Pathology's Randwick Genomics Laboratory. He is co-lead of the Mackenzie's Mission carrier screening project, and reproductive genetic carrier screening is a major research focus. Other research interests include congenital heart disease and the causes of intellectual disability. Kirk ifs the author of the popular science book��The Genes That Make Us: human stories from a revolution in medicine��(title in the Northern Hemisphere��The Boy Who Wasn't Short).��

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Broad Research Areas

Reproductive Genetic Carrier Screening

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

Specific Research Keywords��
Clinical Genetics
Chromosomal disorders
Intellectual Disability
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Society Memberships & Professional Activities�� ��
Member of HGSA, ASIEM, AACG, ASDG.
Fellow of Royal Australasian College of Physicians.
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Phone

(02) 9382 5608

E-mail

e.kirk@unsw.edu.au

Location

Sydney Children's Hospital High Street Randwick NSW 2031

Book Chapters | 2010

, 2010, 'NK-2 Class Homeodomain Proteins: Conserved Regulators of Cardiogenesis', in Heart Development and Regeneration: Volume I, pp. 569 - 597,

Book Chapters | 2010

Elliott DA; Kirk EP; Schaft D; Harvey RP, 2010, 'Chapter 9.1 NK-2 Class Homeodomain Proteins Conserved Regulators of Cardiogenesis', in Heart Development and Regeneration, Elsevier, pp. 569 - 597,
Journal articles | 2026

Chang Y; Rath EM; Soka M; Singer ES; Trivedi G; Burns C; Austin R; Boughtwood T; Brown JS; Casauria S; Chong B; Cvetkovska J; Dunwoodie SL; Lunke S; Mattiske T; McGaughran J; Pantaleo SJ; Quinn MCJ; Semsarian C; Macciocca I; Ingles J; Fatkin D; Giannoulatou E; Bagnall RD; Hill A; Metke A; Bray A; McLean A; Trainer A; Mallawaarachchi A; Pflaumer A; Davis A; Kelly A; Overkov A; Enriquez A; Morrish A; Horton AE; Chong B; Gray B; Hanna B; Smerdon C; Herrera C; Medi C; Greer C; Ng CA; Burns C; Patel C; Barnett C; Semsarian C; Elliott D; Mowat D; Winlaw D; Das D; Howting D; Garza D; Milnes D; Fatkin D; Alankarage D; Zentner D; Tang D; Kirk E; Giannoulatou E; Martin E; Rath EM; Singer ES; Haan E; Madelli EO; Collins F; Cunningham F; Chapman G; Correnti G; Hollingsworth G; Hollway G; Blue GM; Valente G; Trivedi G; Raju H; Chalinor H; Mountain H; Sherburn I; Mathew J; McNamara J; Vandenberg J; Hayward J; Smith J; Davis J; Brown J; Taylor J; Morwood J; Vohra J; Isbister J; Ingles J; Atherton JJ; Rogers J; Lipton J; Thorpe J; Dobbins J; Mansour J; McGaughran J, 2026, 'Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses', Genetics in Medicine, 28,

Journal articles | 2026

Goh S; Dudding-Byth T; Pinese M; Kirk EP, 2026, 'Updated penetrance estimates for recurrent copy number variants – an improved definition and formula', European Journal of Human Genetics, 34, pp. 119 - 127,

Journal articles | 2026

Haas MA; Madelli EO; Delatycki MB; Kirk EP; Boughtwood TF, 2026, 'Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project', European Journal of Human Genetics,

Journal articles | 2026

Leshchynska I; Das D; O’Reilly V; Sipka A; Iyer K; Alankarage D; Rath E; Kumar A; Kurt BA; Voydanoff ME; Kirk E; Nassar N; Winlaw D; Stevenson RE; Winlaw DS; Ascher DB; Giannoulatou E; Mark PR; Dunwoodie SL; Chapman G, 2026, 'A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia', European Journal of Human Genetics,

Journal articles | 2026

Martin EMMA; Drover K; Shpak A; Horner NR; O'Reilly V; Cocking E; Greasby JA; Iyer KR; Dunwoodie SL; Winlaw DS; Giannoulatou E; Nassar N; Kirk E; Arkell R; Chapman G, 2026, 'Comprehensive defect detection in mouse embryos and the heart by combining automated phenotyping with novel population averages and atlases', Differentiation, 148, pp. 100936,

Journal articles | 2026

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, 2026, 'Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE', Npj Genomic Medicine, 11,

Journal articles | 2026

Wiszniak S; Alankarage D; Lohraseb I; Marchant C; Secker G; Domingo D; Hartmann J; Zhang T; Parker W; Toubia J; White M; Piltz S; Tondl M; Giannoulatou E; Winlaw D; Blue GM; Lain S; Sholler G; Nassar N; Chapman G; Kirk E; Tam PPL; Thomas P; Harvey N; Dunwoodie SL; Schwarz Q, 2026, 'Neural crest cell-derived DKK1 and NEDD4 modulate Wnt signalling in the��second heart field to orchestrate outflow tract development', Nature Communications, 17,

Journal articles | 2025

Alankarage D; Leshchynska I; Portelli S; Sipka A; Blue GM; O'Reilly V; Das D; Rath EM; Enriquez A; Troup M; Fine M; Poplawski N; Verlee M; Humphreys DT; Harvey RP; Chapman G; Kirk EP; Winlaw DS; Callewaert B; Chung WK; Ascher D; Giannoulatou E; Dunwoodie SL, 2025, 'Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease', Human Genetics and Genomics Advances, 6,

Journal articles | 2025

Delatycki MB; Kirk EP; Laing NG, 2025, 'Nationwide, Couple-Based Genetic Carrier Screening: The authors reply', New England Journal of Medicine, 392, pp. 930,

Journal articles | 2025

Freeman L; Archibald AD; Dive L; Delatycki MB; Kirk EP; Laing N; Newson AJ, 2025, 'Considering severity in the design of reproductive genetic carrier screening programs: screening for severe conditions', European Journal of Human Genetics, 33, pp. 194 - 198,

Journal articles | 2025

Goh S; Goel H; Ashton K; Hackett A; Dudding-Byth T; Kirk E, 2025, 'Bichromosomal X inheritance – a proposed new model of inheritance in genetic conditions', Medical Hypotheses, 202,

Journal articles | 2025

Goh S; Thiyagarajan L; Dudding-Byth T; Pinese M; Kirk EP, 2025, 'A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment', Genetics in Medicine, 27,

Journal articles | 2025

Goldman CM; Lewis S; Massie J; Kirk EP; Symons A; Delatycki MB, 2025, 'Prospective parents' views on reproductive genetic carrier screening: “You know better, you do better”', Journal of Genetic Counseling, 34,

Journal articles | 2025

Gudkov M; Thibaut L; Monger S; Das D; Winlaw DS; Dunwoodie SL; Giannoulatou E; Nassar N; Kirk E; Chapman G; Blue G; Sholler G; Lain S, 2025, 'Benchmarking of variant pathogenicity prediction methods using a population genetics approach', Bioinformatics Advances, 5,

Journal articles | 2025

Kirk E; Mundy L; Lee E; Lundie B; Laing N; Archibald AD; Newson AJ; Mina K; Carpenter K; Neas K; King R; Ferrie M; Lunke S; Boughtwood T; Delatycki MB; Emery J; Mountain H; Hui L; Dive L; Farrar MA; Massie J, 2025, 'Guidelines for reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy', Pathology, 57, pp. 539 - 545,

Journal articles | 2025

Kirk EP; Delatycki MB; Archibald AD; Tutty E; Caruana J; Halliday JL; Lewis S; Mcclaren BJ; Newson AJ; Dive L; Best S; Long JC; Braithwaite J; Downes MJ; Scuffham PA; Massie J; Barlow-Stewart K; Kulkarni A; Ruscigno A; Kanga-Parabia A; Rodrigues B; Bennetts BH; Ebzery C; Hunt C; Cliffe CC; Lee C; Azmanov D; King EA; Madelli EO; Zhang F; Ho G; Danos I; Liebelt J; Fletcher J; Kennedy J; Beilby J; Emery JD; Mcgaughran J; Marum JE; Scarff K; Fisk K; Harrison K; Boggs K; Giameos L; Fitzgerald L; Thomas L; Burnett L; Freeman L; Harris M; Berbic M; Davis MR; Cifuentes Ochoa M; Wallis M; Wall M; Chow MTM; Ferrie MM; Pachter N; Quayum N; Lang N; Pandy PK; Casella R; Allcock RJN; Ong R; Edwards S; Sundercombe S; Jelenich S; Righetti S; Lunke S; Kaur S; Stock-Myer S; Eggers S; Walker SP; Theodorou T; Catchpool T; Clinch T; Roscioli T; Hardy T; Zhu Y; Fehlberg Z; Boughtwood TF; Laing NG, 2025, 'Nationwide, Couple-Based Genetic Carrier Screening', OBSTETRICAL & GYNECOLOGICAL SURVEY, 80, pp. 287 - 289,

Journal articles | 2025

Mackley MP; Agrawal PB; Ali SS; Archibald AD; Dawson-McClaren B; Ellard H; Freeman L; Gu Y; Jayasinghe K; Jiang S; Kirk EP; Lewis C; McEwen A; Nisselle A; Quinlan C; Terrill B; Tutty E; McNeill A, 2025, 'Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation', European Journal of Human Genetics, 33, pp. 1402 - 1413,

Journal articles | 2025

Rath E; Blue G; Ip E; Das D; Troup M; Kirk E; Lain S; O’Malley B; Scholler G; Chapman G; Nassar N; Winlaw D; Dunwoodie S; Giannoulatou E, 2025, 'Genetic Insights into Unfavourable Cardiovascular Outcomes Following Congenital Heart Disease Surgery', Heart, Lung and Circulation, 34, pp. S376 - S376,

Journal articles | 2025

Rath EM; Le H; Pyshnohraiev Y; Ranjitdev A; Stocker R; Yakovlev A; Dunwoodie SL; Winlaw DS; Giannoulatou E; Nassar N; Kirk E; Chapman G; Blue G; Sholler G; Lain S; Winlaw DS; Dunwoodie SL, 2025, 'Atlantool: A command line tool to retrieve DNA and RNA sequencing reads from BAM files by the read identifier', Bioinformatics Advances, 5,

Journal articles | 2025

Thompson JLM; Tarr IS; Rath EM; Troup M; Ip EKK; Dunwoodie SL; Winlaw D; Giannoulatoudslo E; Nassar N; Kirk E; Chapman G; Blue G; Sholler G; Lain S; Blue GM; Winlaw DS; Giannoulatou E, 2025, 'Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease', Jacc Advances, 4,

Journal articles | 2025

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.', medRxiv,

Journal articles | 2025

Tutty E; McClaren BJ; Lewis S; Barlow-Stewart K; Boughtwood T; Caruana J; Halliday JL; Kirk EP; Laing NG; Massie J; Delatycki MB; Archibald AD, 2025, 'Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening', European Journal of Human Genetics, 33, pp. 1035 - 1043,

Journal articles | 2024

Austin R; Brown JS; Casauria S; Madelli EO; Mattiske T; Boughtwood T; Metke A; Davis A; Horton AE; Winlaw D; Das D; Soka M; Giannoulatou E; Rath EM; Haan E; Blue GM; Vohra J; Atherton JJ; van Spaendonck-Zwarts K; Cox K; Burnett L; Wallis M; Haas M; Quinn MCJ; Pachter N; Poplawski NK; Stark Z; Bagnall RD; Weintraub RG; Pantaleo SJ; Lunke S; De Fazio P; Thompson T; James P; Chang Y; Fatkin D; Macciocca I; Ingles J; Dunwoodie SL; Semsarian C; McGaughran J; Ades L; Enriquez A; McLean A; Smyth R; Alankarage D; McNamara J; Morgan almog ; Fear V; Medi C; Al-Shinnag M; Fine M; Sy R; Finlay K; Milnes D; Tang D; Garza D; Milward M; Taylor J; Morrish A; Taylor S; Barnett C; Gongolidis L; Morwood J; Tchan M; Gray B; Mountain H; Bodek S; Greer C; Mowat D; Thorpe J; Boggs K; Ng CA; Trainer A; Bogwitz M; Haas M; Nowak N; Trivedi G; Hanna B; Martinez NN; Valente G; Bray A; Harvey R; Ohanian M; Brion MJ; Hayward J; O'Sullivan S; Vandenberg J; Herrera C; Overkov A; Verma K; Richardson RB; Hill A; Vidgen M; Hollingsworth G; Patel C; Burns C; Hollway G; Perrin M, 2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2,

Journal articles | 2024

Chung C; Bournazos A; Chan L; Sarkozy V; Lawson J; Kennedy S; Cooper S; Kirk E; Mowat D, 2024, 'Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex “No Mutations Identified” Cohort', Molecular Genetics and Genomic Medicine, 12,

Journal articles | 2024

Davidson S; Shibata Y; Collard S; Zheng H; Kong K; Sun JM; Laohamonthonkul P; Cerra A; Kratina T; Li MWY; Russell C; van Beek A; Kirk EP; Walsh R; Alqanatish J; Almojali A; Alsuwairi W; Alrasheed A; Lalaoui N; Gray PE; Komander D; Masters SL, 2024, 'Dominant negative OTULIN-related autoinflammatory syndrome', Journal of Experimental Medicine, 221,

Journal articles | 2024

Dias KR; Shrestha R; Schofield D; Evans CA; O'Heir E; Zhu Y; Zhang F; Standen K; Weisburd B; Stenton SL; Sanchis-Juan A; Brand H; Talkowski ME; Ma A; Ghedia S; Wilson M; Sandaradura SA; Smith J; Kamien B; Turner A; Bakshi M; Adès LC; Mowat D; Regan M; McGillivray G; Savarirayan R; White SM; Tan TY; Stark Z; Brown NJ; Pérez-Jurado LA; Krzesinski E; Hunter MF; Akesson L; Fennell AP; Yeung A; Boughtwood T; Ewans LJ; Kerkhof J; Lucas C; Carey L; French H; Rapadas M; Stevanovski I; Deveson IW; Cliffe C; Elakis G; Kirk EP; Dudding-Byth T; Fletcher J; Walsh R; Corbett MA; Kroes T; Gecz J; Meldrum C; Cliffe S; Wall M; Lunke S; North K; Amor DJ; Field M; Sadikovic B; Buckley MF; O'Donnell-Luria A; Roscioli T, 2024, 'Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort', Genetics in Medicine, 26,

Journal articles | 2024

Freeman L; Bristowe L; Kirk EP; Delatycki MB; Scully JL, 2024, 'Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness', Journal of Genetic Counseling, 33, pp. 566 - 577,

Journal articles | 2024

Kirk EP; Delatycki MB; Archibald AD; Tutty E; Caruana J; Halliday JL; Lewis S; McClaren BJ; Newson AJ; Dive L; Best S; Long JC; Braithwaite J; Downes MJ; Scuffham PA; Massie J; Barlow-Stewart K; Kulkarni A; Ruscigno A; Kanga-Parabia A; Rodrigues B; Bennetts BH; Ebzery C; Hunt C; Cliffe CC; Lee C; Azmanov D; King EA; Madelli EO; Zhang F; Danos I; Liebelt J; Fletcher J; Kennedy J; Beilby J; Emery JD; McGaughran J; Marum JE; Scarff K; Fisk K; Harrison K; Boggs K; Giameos L; Fitzgerald L; Thomas L; Burnett L; Freeman L; Harris M; Berbic M; Davis MR; Ochoa MC; Wallis M; Wall M; Chow MTM; Ferrie MM; Pachter N; Quayum N; Lang N; Pandy PK; Casella R; Allcock RJN; Ong R; Edwards S; Sundercombe S; Jelenich S; Righetti S; Lunke S; Kaur S; Stock-Myer S; Eggers S; Walker SP; Theodorou T; Catchpool T; Clinch T; Roscioli T; Hardy T; Zhu Y; Fehlberg Z; Boughtwood TF; Laing NG, 2024, 'Nationwide, Couple-Based Genetic Carrier Screening', New England Journal of Medicine, 391, pp. 1877 - 1889,

Journal articles | 2024

Nowak N; Tan L; Yeates L; Ingles J; Gray B; Medi C; Raju H; Sy R; Ryan M; Kirk E; Semsarian C; Burns C, 2024, 'Yield of Diagnostic Genetic Testing in a Multidisciplinary Genetic Heart Disease Clinic with Access to Medicare Rebatable Cardiac Testing', Heart, Lung and Circulation, 33, pp. S112 - S112,

Journal articles | 2024

Tutty E; Archibald AD; Boughtwood TF; Kirk EP; Laing NG; Delatycki MB, 2024, 'Toward Accessible Reproductive Genetic Carrier Screening', Advances in Molecular Pathology, 7, pp. 1 - 14,

Journal articles | 2023

Cheng L; Meiser B; Kaur R; Briggs N; Kirk E; Barlow-Stewart K; Kennedy D, 2023, 'Health professionals’ role in the transfer of mosaic embryos after preimplantation genetic testing for aneuploidies', Reproductive BioMedicine Online, 46, pp. 926 - 938,

Journal articles | 2023

Davidson JE; Russell JS; Martinez NN; Mowat DR; Jones KJ; Kirk EP; Kariyawasam D; Farrar M; D’Silva A, 2023, 'The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers', Genes, 14,

Journal articles | 2023

Freeman L; Delatycki MB; Scully JL; Briggs N; Kirk EP, 2023, 'Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening', European Journal of Human Genetics, 31, pp. 548 - 554,

Journal articles | 2023

Freeman L; Delatycki MB; Scully JL; Kirk EP, 2023, 'Response to Li and Sun', Genetics in Medicine, 25, pp. 157,

Journal articles | 2023

Hall HN; Parry D; Halachev M; Williamson KA; Donnelly K; Parada JC; Bhatia S; Joseph J; Holden S; Prescott TE; Bitoun P; Kirk EP; Newbury-Ecob R; Lachlan K; Bernar J; van Heyningen V; FitzPatrick DR; Meynert A, 2023, 'Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia', Journal of Medical Genetics, 61, pp. 250 - 261,

Journal articles | 2023

He WQ; Nassar N; Schneuer FJ; Lain SJ; Dunwoodie SL; Winlaw D; Giannoulatou E; Kirk E; Chapman G; Blue G; Sholler G, 2023, 'Examination of validity of identifying congenital heart disease from hospital discharge data without a gold standard: Using a data linkage approach', Paediatric and Perinatal Epidemiology, 37, pp. 303 - 312,

Journal articles | 2023

Moradi Marjaneh M; Kirk EP; Patrick R; Alankarage 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, 2023, 'Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line', Elife, 12,

Journal articles | 2023

Terrill B; McKnight L; Pearce A; Gordon H; Lo W; Lee ICJ; Runiewicz M; Palmer A; Andrews L; Kirk E; Goldberg D; Tucker J; Murray D; Kaplan W; Kummerfeld S; Burnett L, 2023, 'Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection', European Journal of Human Genetics, 31, pp. 257 - 261,

Journal articles | 2022

Archibald AD; McClaren BJ; Caruana J; Tutty E; King EA; Halliday JL; Best S; Kanga-Parabia A; Bennetts BH; Cliffe CC; Madelli EO; Ho G; Liebelt J; Long JC; Braithwaite J; Kennedy J; Massie J; Emery JD; McGaughran J; Marum JE; Boggs K; Barlow-Stewart K; Burnett L; Dive L; Freeman L; Davis MR; Downes MJ; Wallis M; Ferrie MM; Pachter N; Scuffham PA; Casella R; Allcock RJN; Ong R; Edwards S; Righetti S; Lunke S; Lewis S; Walker SP; Boughtwood TF; Hardy T; Newson AJ; Kirk EP; Laing NG; Delatycki MB, 2022, 'The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation', Journal of Personalized Medicine, 12,

Journal articles | 2022

Blue GM; Mekel M; Das D; Troup M; Rath E; Ip E; Gudkov M; Perumal G; Harvey RP; Sholler GF; Gecz J; Kirk EP; Liu J; Giannoulatou E; Hong H; Dunwoodie SL; Winlaw DS, 2022, 'Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes', American Heart Journal, 244, pp. 1 - 13,

Journal articles | 2022

Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S; Berman Y; Beshay V; Boggs K; Bojadzieva J; Brown NJ; Bryen SJ; Buckley MF; Chong B; Davis MR; Dawes R; Delatycki M; Donaldson L; Downie L; Edwards C; Edwards M; Engel A; Ewans LJ; Faiz F; Fennell A; Field M; Freckmann ML; Gallacher L; Gear R; Goel H; Goh S; Goodwin L; Hanna B; Harraway J; Higgins M; Ho G; Hopper BK; Horton AE; Hunter MF; Huq AJ; Josephi-Taylor S; Joshi H; Kirk E; Krzesinski E; Kumar KR; Lemckert F; Leventer RJ; Lindsey-Temple SE; Lunke S; Ma A; Macaskill S; Mallawaarachchi A; Marty M; Marum JE; McCarthy HJ; Menezes MP; McLean A; Milnes D; Mohammad S; Mowat D; Niaz A; Palmer EE; Patel C; Patel SG; Phelan D; Pinner JR; Rajagopalan S; Regan M; Rodgers J; Rodrigues M; Roxburgh RH; Sachdev R; Roscioli T; Samarasekera R; Sandaradura SA; Savva E; Schindler T; Shah M; Sinnerbrink IB; Smith JM; Smith RJ; Springer A; Stark Z; Strom SP; Sue CM; Tan K; Tan TY; Tantsis E; Tchan MC; Thompson BA; Trainer AH; van Spaendonck-Zwarts K; Walsh R; Warwick L; White S; White SM; Williams MG, 2022, 'Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants', Genetics in Medicine, 24, pp. 130 - 145,

Journal articles | 2022

Cheng L; Meiser B; Kennedy D; Kirk E; Barlow-Stewart K; Kaur R, 2022, 'Exploration of decision-making regarding the transfer of mosaic embryos following preimplantation genetic testing: A qualitative study', Human Reproduction Open, 2022, pp. hoac035,

Journal articles | 2022

Cheng L; Meiser B; Kirk E; Kennedy D; Barlow-Stewart K; Kaur R, 2022, 'Decisional needs of patients considering preimplantation genetic testing: a systematic review', Reproductive BioMedicine Online, 44, pp. 839 - 852,

Journal articles | 2022

Cheng L; Meiser B; Kirk E; Kennedy D; Barlow-Stewart K; Kaur R, 2022, 'Factors influencing patients’ decision-making about preimplantation genetic testing for monogenic disorders', Human Reproduction, 37, pp. 2599 - 2610,

Journal articles | 2022

Dias KR; Carlston CM; Blok LER; De Hayr L; Nawaz U; Evans CA; Bayrak-Toydemir P; Htun S; Zhu Y; Ma A; Lynch SA; Moorwood C; Stals K; Ellard S; Bainbridge MN; Friedman J; Pappas JG; Rabin R; Nowak CB; Douglas J; Wilson TE; Guillen Sacoto MJ; Mullegama SV; Palculict TB; Kirk EP; Pinner JR; Edwards M; Montanari F; Graziano C; Pippucci T; Dingmann B; Glass I; Mefford HC; Shimoji T; Suzuki T; Yamakawa K; Streff H; Schaaf CP; Slavotinek AM; Voineagu I; Carey JC; Buckley MF; Schenck A; Harvey RJ; Roscioli T, 2022, 'De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations', Genetics in Medicine, 24, pp. 1952 - 1966,

Journal articles | 2022

Ewans LJ; Minoche AE; Schofield D; Shrestha R; Puttick C; Zhu Y; Drew A; Gayevskiy V; Elakis G; Walsh C; Adès LC; Colley A; Ellaway C; Evans CA; Freckmann ML; Goodwin L; Hackett A; Kamien B; Kirk EP; Lipke M; Mowat D; Palmer E; Rajagopalan S; Ronan A; Sachdev R; Stevenson W; Turner A; Wilson M; Worgan L; Morel-Kopp MC; Field M; Buckley MF; Cowley MJ; Dinger ME; Roscioli T, 2022, 'Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis', European Journal of Human Genetics, 30, pp. 1121 - 1131,

Journal articles | 2022

Freeman L; Delatycki MB; Leach Scully J; Kirk EP, 2022, 'Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss', Prenatal Diagnosis, 42, pp. 1658 - 1666,

Journal articles | 2022

Freeman L; Righetti S; Delatycki MB; Scully JL; Kirk EP, 2022, 'The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review', Genetics in Medicine, 24, pp. 1803 - 1813,

Journal articles | 2022

Kirk EP; Delatycki MB; Laing N, 2022, 'Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard', Journal of Inherited Metabolic Disease, 45, pp. 902 - 906,

Journal articles | 2022

Kirk EP, 2022, 'Repeat Expansion Disorders: Bridging the Gap', Clinical Chemistry, 68, pp. 748 - 750,

Journal articles | 2022

Righetti S; Allcock RJN; Yaplito-Lee J; Adams L; Ellaway C; Jones KJ; Selvanathan A; Fletcher J; Pitt J; van Kuilenburg ABP; Delatycki MB; Laing NG; Kirk EP, 2022, 'The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain', Molecular Genetics and Metabolism, 137, pp. 62 - 67,

Journal articles | 2022

Righetti S; Dive L; Archibald AD; Freeman L; McClaren B; Kanga-Parabia A; Delatycki MB; Laing NG; Kirk EP; Newson AJ; Barlow-Stewart K; Best S; Boggs K; Ebzery C; Edwards S; Fehlberg Z; Fitzgerald L; Halliday J; Harrison K; Kennedy J; Long J; Massie J; Tutty E; Allcock R; Caruana J; Casella R; Davis M; Hardy T; Jelenich S; Lunke S; McGaughran J; Ravenscroft G, 2022, 'Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al', Genetics in Medicine, 24, pp. 1158 - 1161,

Journal articles | 2022

Segovia-Falquina C; Vilas A; Leal F; del Caño-Ochoa F; Kirk EP; Ugarte M; Ramón-Maiques S; Gámez A; Pérez B, 2022, 'A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones', Human Mutation, 43, pp. 1430 - 1442,

Journal articles | 2022

Shah M; Selvanathan A; Baynam G; Berman Y; Boughtwood T; Freckmann ML; Parasivam G; White SM; Grainger N; Kirk EP; Ma ASL; Sachdev R, 2022, 'Paediatric genomic testing: Navigating genomic reports for the general paediatrician', Journal of Paediatrics and Child Health, 58, pp. 8 - 15,

Journal articles | 2022

Wang T; Bahrampour M; Byrnes J; Scuffham P; Kirk E; Downes M, 2022, 'Economic evaluation of reproductive carrier screening for recessive genetic conditions: a systematic review', Expert Review of Pharmacoeconomics and Outcomes Research, 22, pp. 197 - 206,

Journal articles | 2022

Yuen M; Worgan L; Iwanski J; Pappas CT; Joshi H; Churko JM; Arbuckle S; Kirk EP; Zhu Y; Roscioli T; Gregorio CC; Cooper ST, 2022, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', European Journal of Human Genetics, 30, pp. 450 - 457,

Journal articles | 2022

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', Pathology, vol. 54, pp. S72 - S73,

Journal articles | 2021

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, 29, pp. 79 - 87,

Journal articles | 2021

Kirk EP, 2021, 'Mackenzie’s mission', Pathology, 53, pp. S12 - S12,

Journal articles | 2021

Li D; March ME; Fortugno P; Cox LL; Matsuoka LS; Monetta R; Seiler C; Pyle LC; Bedoukian EC; Sánchez-Soler MJ; Caluseriu O; Grand K; Tam A; Aycinena ARP; Camerota L; Guo Y; Sleiman P; Callewaert B; Kumps C; Dheedene A; Buckley M; Kirk EP; Turner A; Kamien B; Patel C; Wilson M; Roscioli T; Christodoulou J; Cox TC; Zackai EH; Brancati F; Hakonarson H; Bhoj EJ, 2021, 'Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome', Human Genetics, 140, pp. 1061 - 1076,

Journal articles | 2021

Morrish AM; Smith J; Enriquez A; Sholler GF; Mervis J; Dunwoodie SL; Kirk EP; Winlaw DS; Blue GM, 2021, 'A new era of genetic testing in congenital heart disease: A review', Trends in Cardiovascular Medicine,

Journal articles | 2021

Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, 96, pp. E1770 - E1782,

Journal articles | 2021

Sachdev R; Field M; Baynam GS; Beilby J; Berarducci M; Berman Y; Boughtwood T; Cusack MB; Fitzgerald V; Fletcher J; Freckmann ML; Grainger N; Kirk E; Lundie B; Lunke S; McGregor L; Mowat D; Parasivam G; Tyrell V; Wallis M; White SM; S L Ma A, 2021, 'Paediatric genomic testing: Navigating medicare rebatable genomic testing', Journal of Paediatrics and Child Health, 57, pp. 477 - 483,

Journal articles | 2021

Scott F; Smet ME; Hardy T; Sundercombe S; Friedlander M; Carey L; Kirk E; Li B; McLennan A, 2021, 'Concurrent maternal malignancy and fetal trisomy detected using genome-wide noninvasive prenatal screening', Prenatal Diagnosis, 41, pp. 1273 - 1276,

Journal articles | 2021

Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT, 2021, 'Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders', American Journal of Human Genetics, 108, pp. 1692 - 1709,

Journal articles | 2021

Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT, 2021, 'Erratum: Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders (The American Journal of Human Genetics (2021) 108(9) (1692–1709), (S0002929721002755), (10.1016/j.ajhg.2021.07.007))', American Journal of Human Genetics, 108, pp. 2206,

Journal articles | 2021

Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T, 2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, 23, pp. 894 - 905,

Journal articles | 2021

Yuen M; Worgan L; Iwanski J; Pappas C; Joshi H; Churko J; Arbuckle S; Kirk E; Roscioli T; Gregorio C; Cooper S, 2021, 'Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant', NEUROMUSCULAR DISORDERS, 31, pp. S142 - S142,

Journal articles | 2020

Buckley MF; Elakis G; Lang S; Richards A; Cliffe C; Chan C-Y; Kirk EP; Zhu Y; Roscioli T, 2020, 'Indications and outcomes of rapid turn around time whole exome sequencing studies', Pathology, 52, pp. S29 - S29,

Journal articles | 2020

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, 40, pp. 301 - 310,

Journal articles | 2020

Kirk EP, 2020, 'Mackenzie’s mission', Pathology, 52, pp. S32 - S32,

Journal articles | 2020

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, 323, pp. 2503 - 2511,

Journal articles | 2020

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, 75, pp. 662 - 664,

Journal articles | 2020

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, 107, pp. 1157 - 1169,

Journal articles | 2020

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, 41, pp. 1425 - 1434,

Journal articles | 2020

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, 63,

Journal articles | 2020

Yap JY; Gloss B; Batten M; Hsu P; Berglund L; Cai F; Dai P; Parker A; Qiu M; Miley W; Roshan R; Marshall V; Whitby D; Wegman E; Garsia R; Wu KHC; Kirk E; Polizzotto M; Deenick EK; Tangye SG; Ma CS; CIRCA ; Phan TG, 2020, 'Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency', Journal of Clinical Immunology, 40, pp. 774 - 779,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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, 181, pp. 658 - 681,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

Kirk EP; Barlow-Stewart K; Josephi-Taylor S; Roscioli T, 2019, 'Response to Suthers and Mina', Genetics in Medicine, 21, pp. 1258,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2019

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2018

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,

Journal articles | 2017

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,

Journal articles | 2017

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,

Journal articles | 2017

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,

Journal articles | 2017

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,

Journal articles | 2017

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,

Journal articles | 2017

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,

Journal articles | 2017

Kirk EP, 2017, 'Genes, Environment, and the Heart: Putting the Pieces Together', Circulation Cardiovascular Genetics, 10,

Journal articles | 2017

Palmer EE; Sachdev R; Kandula T; Macintosh R; Kirk E; Bye A; Palmer E, 2017, 'Genetics of Epileptic Encephalopathies', eLS, pp. 1 - 11,

Journal articles | 2017

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,

Journal articles | 2016

Kirk E, 2016, 'Challenging variant interpretation in cardiac genetics', Pathology, 48, pp. S29 - S29,

Journal articles | 2016

Kirk EP, 2016, 'Zika virus: Accurate terminology matters', Nature, 531, pp. 173,

Journal articles | 2016

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,

Journal articles | 2015

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,

Journal articles | 2015

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,

Journal articles | 2015

Kirk E, 2015, 'Hitchhiker's guide to the literature: Journal: Nature', Journal of Paediatrics and Child Health, 51, pp. 128,

Journal articles | 2015

Kirk E, 2015, 'Hitchhiker's guide to the literature: Journal: World Journal of Paediatrics', Journal of Paediatrics and Child Health, 51, pp. 468,

Journal articles | 2015

Kirk E, 2015, 'Hitchhiker’s guide to the literature', Journal of Paediatrics and Child Health, 51, pp. 746,

Journal articles | 2015

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,

Journal articles | 2015

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,

Journal articles | 2014

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

Journal articles | 2014

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,

Journal articles | 2014

Kirk E, 2014, 'Hitchhiker's guide to the literature: Journal: Cell', Journal of Paediatrics and Child Health, 50, pp. 843,

Journal articles | 2014

Kirk EP, 2014, 'Investigation of cardiac death - what is (technically) possible?', Pathology, 46, pp. S20 - S20,

Journal articles | 2014

Kirk EP, 2014, 'Investigation of cardiac death - what is (technically) possible?', Pathology, 46, pp. S26 - S26,

Journal articles | 2014

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,

Journal articles | 2014

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,

Journal articles | 2013

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,

Journal articles | 2013

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,

Journal articles | 2013

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,

Journal articles | 2013

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

Journal articles | 2013

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,

Journal articles | 2013

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,

Journal articles | 2013

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,

Journal articles | 2012

Blue GM; Kirk EP; Sholler GF; Winlaw DS, 2012, 'Congenital heart disease: Current knowledge about causes and inheritance', Medical Journal of Australia, 197, pp. 155 - 159,

Journal articles | 2012

Harakalova M; Van harssel JJT; Terhal P; Van lieshout S; Duran K; Kirk EP, 2012, 'Dominant missense mutations in ABCC9 cause Cantúsyndrome', Nature Genetics, 44, pp. 793 - 796,

Journal articles | 2012

Kirk E, 2012, 'Hitchhiker's guide to the literature.', Journal of Paediatrics and Child Health, 48, pp. 952,

Journal articles | 2012

Kirk EP, 2012, ''Nasal' speech-hyper or hypo', European Journal of Human Genetics, 20, pp. 367,

Journal articles | 2012

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

Journal articles | 2012

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,

Journal articles | 2011

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

Journal articles | 2011

Esposito G; Butler TL; Blue GM; Sholler GF; Kirk EP; Grossfeld P; Perryman BM; Harvey RP; Winlaw DS, 2011, 'Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart', American Journal of Medical Genetics Part A, 155, pp. 2416 - 2421,

Journal articles | 2011

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

Journal articles | 2011

Marsh DJ; Trahair TN; Kirk EP, 2011, 'Mutant AKT1 in Proteus Syndrome', New England Journal of Medicine, 365, pp. 2141 - 2142,

Journal articles | 2011

Moradi marjaneh M; Kirk EP; Posch MG; Ozcelik C; Berger F; Hetzer R; Otway R; Butler TL; Blue GM; Griffiths L; Fatkin D; Martinson JJ; Winlaw D; Feneley MP; Harvey RP, 2011, 'Investigation of Association between PFO Complicated by Cryptogenic Stroke and a Common Variant of the Cardiac Transcription Factor GATA4', PLoS One, 6, pp. e20711,

Journal articles | 2011

Moray A; Kirk EP; Grant PJ; Camphausen CK, 2011, 'Prophylactic left thoracic sympathectomy to prevent electrical storms in CPVT patients needing ICD placement', Heart Lung and Circulation, 20, pp. 731 - 733,

Journal articles | 2011

Prada CE; Al Jasmi F; Kirk EP; Hopp M; Jones OD; Lesley ND; Burrow A, 2011, 'Cardiac disease in methylmalonic acidemia', Journal of Pediatrics, 159, pp. 862 - 864,

Journal articles | 2011

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

Journal articles | 2011

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

Journal articles | 2010

Butler TL; Esposito G; Blue GM; Cole A; Costa M; Waddell L; Walizada G; Sholler G; Kirk EP; Feneley MP; Harvey RP; Winlaw D, 2010, 'GATA4 mutations in 357 unrelated patients with congenital heart malformation', Genetic Testing and Molecular Biomarkers, 14, pp. 797 - 802,

Journal articles | 2010

Elliott DA; Kirk EP; Schaft D; Harvey RP, 2010, 'NK-2 Class Homeodomain Proteins. Conserved Regulators of Cardiogenesis', , pp. 569 - 597,

Journal articles | 2010

Granados-riveron J; Ghosh TK; Pope M; Bu''Lock F; Thornborough C; Eason J; Kirk EP; Fatkin D; Feneley MP; Harvey RP; Armour J; Brook JD, 2010, 'Alpha-Cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects', Human Molecular Genetics, 19, pp. 4007 - 4016,

Journal articles | 2010

Kranendijk M; Struys E; Schaftingen E; Gibson K; Kanhari W; Van der knaap M; Amiel J; Buist N; Das A; De klerk J; Feingenbaum A; Grange D; Hofstede F; Home E; Kirk EP; Korman S; Morava E; Morris A; Smeitink J; Sukari R; Vallance H; Jakobs C; Salomons G, 2010, 'IDH2 mutations in patients with D-2-hydroxyglutaric aciduria', Science, 330, pp. 336

Journal articles | 2010

Numata S; Koda Y; Ihara K; Sawada T; Okano Y; Matsuura T; Endo F; Yoo HW; Arranz JA; Rubio V; Wermuth B; Ah Mew N; Tuchman M; Pinner JR; Kirk EP; Yoshino M, 2010, 'Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations', Journal of Human Genetics, 55, pp. 18 - 22,

Journal articles | 2010

Pinner J; Freckman M; Kirk EP; Yoshino M, 2010, 'Female heterozygotes for the hypomorphic R40H mutation can have ornithine transcarbamylase deficiency and present in early adolescence: a case report and review of the literature', Journal of Medical Case Reports, 4, pp. 361 - 364

Journal articles | 2010

Van kogelenberg M; Ghedia S; Mcgillivray G; Bruno D; Leventer R; Macdermot K; Nelson J; Nararajan L; Veltman J; De brouwer A; Gardner R; Van bokhoven H; Kirk EP; Robertson S, 2010, 'Periventricular Heterotopia in Common Microdeletion Syndromes', Molecular Syndromology, 1, pp. 35 - 41

Journal articles | 2009

Chopra M; Jackson R; Durkie M; Beauchamp N; Kirk EP, 2009, 'Glycogen storage disease type 1b: Mild phenotype associated with a novel splice site mutation', Molecular Genetics and Metabolism, 97, pp. 315 - 315

Journal articles | 2009

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

Journal articles | 2009

Tan T; Aftimos S; Worgan L; Susman R; Wilson MR; Ghedia S; Kirk EP; Love D; Ronan A; Darmanian A; Slavotinek A; Hogue J; Moeschler J; Ozmore J; Widmer R; Savarirayan R; Peters G, 2009, 'Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome', Journal of Medical Genetics, 46, pp. 480 - 489,

Journal articles | 2009

Wilcken B; Haas MR; Joy P; Wiley V; Bowling F; Carpenter K; Christodoulou J; Cowley DM; Ellaway C; Peters HL; Fletcher J; Kirk EP; Lewis BE; McGill J; Pitt JI; Ranieri E; Yaplito-Lee J; Boneh A, 2009, 'Expanded newborn screening: Outcome in screened and unscreened patients at age 6 years', Pediatrics, 124,

Journal articles | 2008

Bonaglia M; Giorda R; Beri S; Peters G; Kirk EP; Hung D; Ciccone R; Gottardi G; Zuffardi O, 2008, 'Concurrent transposition of distal 6p and 20q to the 22q telomere: A recurrent benign chromosomal variant', European Journal of Medical Genetics, 51, pp. 148 - 155

Journal articles | 2008

Marsh DJ; Trahair TN; Martin J; Chee W; Walker JL; Kirk EP; Baxter RC; Marshall GM, 2008, 'Rapamycin treatment for a child with germline PTEN mutation', Nature Clinical Practice Oncology, 5, pp. 357 - 361,

Journal articles | 2007

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

Journal articles | 2006

Holyoake P; Stevenson JD; Moran C; Stokes R; Kirk EP; Sugo E; Hawthorne WJ, 2006, 'The occurrence of congenital heart defects in an inbred herd of pigs in Australia', Australian Veterinary Journal, 84, pp. 129 - 133

Journal articles | 2006

Kirk EP; Hyun C; Thomson P; Lai D; Castro ML; Biben C; Buckley MF; Martin I; Moran C; Harvey RP, 2006, 'Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse', Circulation Research, 98, pp. 651 - 658

Journal articles | 2006

Roscioli T; Cliffe ST; Bloch D; Bell C; Mullan GL; Taylor PJ; Sarris M; Wang J; Donald JA; Kirk EP; Ziegler JB; Salzer U; McDonald GB; Wong M; Lindeman R; Buckley MF, 2006, 'Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease', Nature Genetics, 38, pp. 620 - 622

Journal articles | 2006

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

Journal articles | 2005

Kirk EP; Cregan K, 2005, 'Ethics of therapeutic cloning [4] (multiple letters)', Internal Medicine Journal, 35, pp. 500,

Journal articles | 2005

Kirk EP; Hattam A; Turner A; Bonke B; Tibben A; Lindhout D; Clarke AJ; Stijnen T, 2005, 'Genetic risk estimation by health care professionals (multiple letters) [5]', Medical Journal of Australia, 182, pp. 596 - 597,

Journal articles | 2005

Kirk EP; Hattam A; Turner AM, 2005, 'Genetic risk information by health care professionals', Medical Journal of Australia, 182, pp. 116 - 118

Journal articles | 2005

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

Journal articles | 2005

Kirk EP, 2005, 'Classification of stillbirth: Classification is not explanation', BMJ, 331, pp. 1269,

Journal articles | 2005

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, 94, pp. 114 - 116

Journal articles | 2005

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, 28, pp. 525 - 532

Journal articles | 2005

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, 137A, pp. 223 - 224

Journal articles | 2004

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, 23, pp. 47 - 56

Journal articles | 2004

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, 114, pp. 837 - 845

Journal articles | 2004

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, 130 A, pp. 214 - 215,

Journal articles | 2004

Kirk EP; Smith JM; Field M; Marshall GM; Marsh DJ, 2004, 'Diagnosis of proteus syndrome was correct', American Journal of Medical Genetics Part A, 130A, pp. 214 - 215

Journal articles | 2004

Kirk EP, 2004, 'The fog of expectation', BMJ, 329, pp. 1495,

Journal articles | 2004

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), 40, pp. 401 - 403

Journal articles | 2004

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, 124A, pp. 307 - 312

Journal articles | 2004

Smith JM; Kirk EPE, 2004, 'The expanding phenotype of cystic fibrosis [1]', Medical Journal of Australia, 181, pp. 514,

Journal articles | 2003

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, 120A, pp. 523 - 527

Journal articles | 2003

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, 41, pp. 2072 - 2076,

Journal articles | 2003

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, 41, pp. 2072 - 2076

Journal articles | 2003

Kirk EP; Isaacs D, 2003, 'To kill or let die? [1] (multiple letters)', Journal of Paediatrics and Child Health, 39, pp. 480,

Journal articles | 2003

Kirk EP, 2003, 'Embryo selection for complex traits is impracticable [13]', British Medical Journal, 326, pp. 53

Journal articles | 2003

Kirk EP, 2003, 'Treatment by deception is bad medicine [6]', Lancet, 362, pp. 668,

Journal articles | 2002

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, 67, pp. 107 - 114,

Journal articles | 2002

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, 11, pp. 237 - 241

Journal articles | 2002

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

Journal articles | 2002

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, 39, pp. 937 - 940

Journal articles | 2001

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, pp. 485 - 490

Journal articles | 1999

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, pp. 120 - 124

Journal articles | 1999

Kirk EP; Wilson M, 1999, 'Dominant inheritance of cleft palate with minor abnoralities ofhands and feet: a new syndrome?', Clinical Dysmorphology, pp. 193 - 197

Journal articles | 1999

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, pp. 395 - 402

Journal articles | 1998

Kirk E; Ades L, 1998, 'Hypoplastic left heart in cerebrocostomandibular syndrome [3]', Journal of Medical Genetics, 35, pp. 879

Journal articles | 1998

Kirk EPE; 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
Preprints | 2025

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.,

Preprints | 2023

Davidson S; Shibata Y; Collard S; Laohamonthonku P; Kong K; Sun J; Li MWY; Russell C; van Beek A; Kirk EP; Walsh R; Gray PE; Komander D; Masters SL, 2023, Dominant negative OTULIN Related Autoinflammatory Syndrome,

Preprints | 2022

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,

Conference Abstracts | 2022

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,

Preprints | 2022

Marjaneh MM; Kirk E; Patrick R; Alankerage D; Humphreys D; Del Monte-Nieto G; Cornejo-Paramo P; Janbandhu V; Doan T; Dunwoodie S; Wong E; Moran C; Martin ICA; Thomson P; Harvey R, 2022, Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line,

Conference Abstracts | 2022

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,

Conference Papers | 2020

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,

Conference Papers | 2019

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,

Other | 2019

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,

Conference Abstracts | 2019

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,

Conference Abstracts | 2019

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,

Conference Abstracts | 2019

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,

Conference Abstracts | 2018

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, 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

Conference Papers | 2017

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,

Conference Abstracts | 2017

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,

Conference Papers | 2017

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,

Conference Abstracts | 2016

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,

Conference Presentations | 2011

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 Papers | 2010

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,

Conference Papers | 2009

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,

Conference Papers | 2008

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

Conference Papers | 1999

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,

Conference Papers | 1998

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

Conference Papers | 1997

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

Funding Sources����
Major source at present is MRFF

Reproductive genetic carrier screening has been Kirk's main focus in recent years, but he remains active in research into other areas of genetics including congenital heart disease, causes of intellectual disability and genetic syndromes and the psychosocial aspects of genetic conditions.��

My Teaching

Teaching Interests����

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

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