By Professor Edwin Philip Enfield Kirk

Journal articles

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

Goh S; Thiyagarajan L; Dudding-Byth T; Mark P; Kirk EP, 2024, 'A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment.', Genet Med, pp. 101227, http://dx.doi.org/10.1016/j.gim.2024.101227

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

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

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

Marjaneh MM; Kirk EP; Patrick R; Alankarage D; Humphreys DT; Monte-Nieto GD; 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

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

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, http://dx.doi.org/10.1016/j.ajhg.2021.07.007

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, http://dx.doi.org/10.1002/pd.6020

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, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007

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, http://dx.doi.org/10.1007/s00439-021-02274-3

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, http://dx.doi.org/10.1111/jpc.15382

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, http://dx.doi.org/10.1212/WNL.0000000000011655

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, http://dx.doi.org/10.1016/j.tcm.2021.04.011

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, http://dx.doi.org/10.1038/s41431-020-0685-x

Kirk EP, 2021, 'Mackenzie’s mission', Pathology, 53, pp. S12 - S12, http://dx.doi.org/10.1016/j.pathol.2021.05.045

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, http://dx.doi.org/10.1016/j.ajhg.2020.10.005

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

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

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

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, http://dx.doi.org/10.1007/s10875-020-00804-8

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, http://dx.doi.org/10.1001/jama.2020.7671

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