Book Chapters
, 2010, 'NK-2 Class Homeodomain Proteins: Conserved Regulators of Cardiogenesis', in Heart Development and Regeneration: Volume I, pp. 569 - 597, http://dx.doi.org/10.1016/B978-0-12-381332-9.00026-8
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, http://dx.doi.org/10.1016/b978-0-12-381332-9.00026-8
Journal articles
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, http://dx.doi.org/10.1038/s41525-025-00548-7
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, http://dx.doi.org/10.1038/s41467-026-68459-4
Cliffe CC; Allcock RJN; Laing NG; Zhang F; Lee C; Archibald AD; Chow MTM; Davis MR; Delatycki MB; Marum JE; Monaco A; Ong R; Righetti S; Rodrigues B; Roscioli T; Zhu Y; Ashton KA; Bennetts B; Berbic M; Catchpool TM; Cullen M; Elakis G; Fisk KM; Goh S; Ho G; Pandy PK; Khan K; Ky DT; Maroulis SL; Mullan GL; Pertile M; Petricevic N; Pinguinha JS; Quayum N; Richards A; Rowntree CP; Quintal NA; Sundercombe SL; Teunisse GM; Truong H; Tseung J; Walsh R; Wise CA; Xie X; Yin H; Lunke S; Kirk EP, 2026, 'Laboratory Considerations for Reproductive Genetic Carrier Screening', Journal of Molecular Diagnostics, 28, pp. 732 - 747, http://dx.doi.org/10.1016/j.jmoldx.2026.06.009
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, 34, pp. 938 - 946, http://dx.doi.org/10.1038/s41431-026-02048-3
Long JC; Archibald AD; Lamprell K; Dawson-McClaren B; Kraan C; Springer A; Dive L; Newson AJ; Watts G; Holmes I; Cutler H; Jeet V; Trainer A; Best S; Delatycki M; Kirk EP; Laing N; Ferrie M; Freeman L; Willcock S; Spanos S; Gilkes L; Cini J; Edwards S; Leibowitz R; Mahadeva J; Foo D; Churruca K; Patel R; Braithwaite J, 2026, 'Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol', BMJ Open, 16, http://dx.doi.org/10.1136/bmjopen-2025-105100
Gray PE; Masters SL; Kirk EP, 2026, 'Not getting the nod: The case against Yao syndrome', Journal of Human Immunity, 2, http://dx.doi.org/10.70962/jhi.20250224
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, 34, pp. 619 - 629, http://dx.doi.org/10.1038/s41431-026-02076-z
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, http://dx.doi.org/10.1016/j.diff.2026.100936
Lain SJ; He WQ; Blue GM; Winlaw DS; Sholler G; Kirk EP; Dunwoodie SL; Celermajer DS; Nassar N, 2026, 'Increased Risk of Disabilities in Children and Adolescents With Congenital Heart Disease of Any Severity', Journal of the American Heart Association, 15, pp. 1 - 9, http://dx.doi.org/10.1161/JAHA.125.047246
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, http://dx.doi.org/10.1016/j.gim.2025.101626
Thompson JLM; Gao Y; Iwasawa E; Das D; Rath E; Troup M; Humphreys DT; Heydarian H; Anixt J; Kasparian NA; Froehlich TE; Tchieu J; Weaver KN; Congenital H; Kirk EP; Dale R; Dunwoodie SL; Winlaw DS; Giannoulatou E, 2026, 'Multiomic Investigation of Shared Genetic Pathways in Paediatric Congenital Heart Disease and Neurodevelopmental Disorders', Human Mutation, 2026, http://dx.doi.org/10.1155/humu/7869246
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, http://dx.doi.org/10.1038/s41431-025-01948-0
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, http://dx.doi.org/10.1038/s41431-025-01925-7
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, http://dx.doi.org/10.1016/j.xhgg.2025.100478
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, http://dx.doi.org/10.1016/j.mehy.2025.111714
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, http://dx.doi.org/10.1016/j.pathol.2025.02.004
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, http://dx.doi.org/10.1002/jgc4.70100
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, http://dx.doi.org/10.1038/s41431-025-01903-z
Thompson JLM; Tarr IS; Rath EM; Troup M; Ip EKK; Blue GM; Winlaw DS; Dunwoodie SL; Giannoulatou E, 2025, 'Polygenic Inheritance for Common Comorbidities Associated With Congenital Heart Disease', Jacc Advances, 4, http://dx.doi.org/10.1016/j.jacadv.2025.101673
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, http://dx.doi.org/10.1038/s41431-024-01738-0
Delatycki MB; Kirk EP; Laing NG, 2025, 'Nationwide, Couple-Based Genetic Carrier Screening: The authors reply', New England Journal of Medicine, 392, pp. 930, http://dx.doi.org/10.1056/NEJMc2500317
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, http://dx.doi.org/10.1016/j.gim.2024.101227
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, http://dx.doi.org/10.1093/bioadv/vbaf226
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, http://dx.doi.org/10.1093/bioadv/vbaf227
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, http://dx.doi.org/10.1016/j.hlc.2025.06.445
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; 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; Investigators FTMM, 2025, 'Nationwide, Couple-Based Genetic Carrier Screening', Obstetrical & Gynecological Survey, 80, pp. 287 - 289, http://dx.doi.org/10.1097/01.ogx.0001113780.63216.2a
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, http://dx.doi.org/10.1056/NEJMoa2314768
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, http://dx.doi.org/10.1002/mgg3.70017
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, http://dx.doi.org/10.1084/jem.20222171
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, http://dx.doi.org/10.1002/jgc4.1757
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, http://dx.doi.org/10.1016/j.gim.2024.101076
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, http://dx.doi.org/10.1016/j.gimo.2024.101842
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, http://dx.doi.org/10.1016/j.yamp.2024.06.001
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, http://dx.doi.org/10.1016/j.hlc.2024.04.200
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, http://dx.doi.org/10.1136/jmg-2023-109181
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, http://dx.doi.org/10.3390/genes14071403
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, http://dx.doi.org/10.7554/eLife.83606
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, http://dx.doi.org/10.1016/j.rbmo.2023.02.009
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, http://dx.doi.org/10.1111/ppe.12976
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, http://dx.doi.org/10.1038/s41431-022-01239-y
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, http://dx.doi.org/10.1038/s41431-022-01251-2
Freeman L; Delatycki MB; Scully JL; Kirk EP, 2023, 'Response to Li and Sun', Genetics in Medicine, 25, pp. 157, http://dx.doi.org/10.1016/j.gim.2022.10.003
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, http://dx.doi.org/10.1002/pd.6253
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, http://dx.doi.org/10.1093/humrep/deac185
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, http://dx.doi.org/10.3390/jpm12111781
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, http://dx.doi.org/10.1002/humu.24431
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, http://dx.doi.org/10.1038/s41431-022-01162-2
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, http://dx.doi.org/10.1016/j.gim.2022.06.001
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https://orcid.org/0000-0002-4662-0024