By Professor Edwin Philip Enfield Kirk

Journal articles

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

Rath EM; Le H; Pyshnohraiev Y; Ranjitdev A; Stocker R; Yakovlev A; Winlaw DS; Dunwoodie SL; Giannoulatou E; Dunwoodie SL; Winlaw DS; Giannoulatou E; Nassar N; Kirk E; Chapman G; Blue G; Sholler G; Lain S, 2025, 'Atlantool: A command line tool to retrieve DNA and RNA sequencing reads from BAM files by the read identifier', Bioinformatics Advances, http://dx.doi.org/10.1093/bioadv/vbaf226

Gudkov M; Thibaut L; Monger S; Das D; Winlaw DS; Dunwoodie SL; Giannoulatou E; Dunwoodie SL; Winlaw DS; 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, http://dx.doi.org/10.1093/bioadv/vbaf227

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; Dunwoodie SL; Winlaw D; Giannoulatoudslo E; Nassar N; Kirk E; Chapman G; Blue GM; Sholler G; Lain S; Winlaw DS; 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

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, http://dx.doi.org/10.1038/s41431-025-01925-7

Goh S; Dudding-Byth T; Pinese M; Kirk EP, 2025, 'Updated penetrance estimates for recurrent copy number variants – an improved definition and formula', European Journal of Human Genetics, http://dx.doi.org/10.1038/s41431-025-01948-0

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; 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 - 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

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, http://dx.doi.org/10.1002/jimd.12505

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, http://dx.doi.org/10.1016/j.ymgme.2022.07.011

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, http://dx.doi.org/10.1016/j.gim.2022.05.005

Kirk EP, 2022, 'Repeat Expansion Disorders: Bridging the Gap', Clinical Chemistry, 68, pp. 748 - 750, http://dx.doi.org/10.1093/clinchem/hvac047

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, http://dx.doi.org/10.1016/j.gim.2022.01.007

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, http://dx.doi.org/10.1016/j.rbmo.2021.12.011

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, http://dx.doi.org/10.1038/s41431-022-01043-8

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, http://dx.doi.org/10.1016/j.ahj.2021.10.185

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, http://dx.doi.org/10.1080/14737167.2022.1993063

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, http://dx.doi.org/10.1093/hropen/hoac035

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, http://dx.doi.org/10.1111/jpc.15703

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, http://dx.doi.org/10.1016/j.gim.2021.09.001

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, http://dx.doi.org/10.1016/j.ajhg.2021.09.018

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, http://dx.doi.org/10.1016/j.nmd.2021.07.328

Back to profile page