By Dr Georgina Elizabeth Hollway

Journal articles

Huynh A; E Gray P; Sullivan A; Mackie J; Guerin A; Rao G; Pathmanandavel K; Della Mina E; Hollway G; Hobbs M; Enthoven K; O’Young P; McManus S; H. Wainwright L; Higgins M; Noon F; Wong M; Bastard P; Zhang Q; Casanova JL; Hsiao KC; Pinzon-Charry A; S Ma C; G. Tangye S, 2025, 'Correction to: A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries (Journal of Clinical Immunology, (2024), 44, 8, (170), 10.1007/s10875-024-01774-x)', Journal of Clinical Immunology, 45, http://dx.doi.org/10.1007/s10875-024-01801-x

Huynh A; Gray PE; Sullivan A; Mackie J; Guerin A; Rao G; Pathmanandavel K; Mina ED; Hollway G; Hobbs M; Enthoven K; O’Young P; McManus S; Wainwright LH; Higgins M; Noon F; Wong M; Bastard P; Zhang Q; Casanova JL; Hsiao KC; Pinzon-Charry A; Ma CS; Tangye SG, 2024, 'A Novel Case of IFNAR1 Deficiency Identified a Common Canonical Splice Site Variant in DOCK8 in Western Polynesia: The Importance of Validating Variants of Unknown Significance in Under-Represented Ancestries', Journal of Clinical Immunology, 44, http://dx.doi.org/10.1007/s10875-024-01774-x

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; Brown 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

Davidson AL; Dressel U; Norris S; Canson DM; Glubb DM; Fortuno C; Hollway GE; Parsons MT; Vidgen ME; Holmes O; Koufariotis LT; Lakis V; Leonard C; Wood S; Xu Q; McCart Reed AE; Pickett HA; Al-Shinnag MK; Austin RL; Burke J; Cops EJ; Nichols CB; Goodwin A; Harris MT; Higgins MJ; Ip EL; Kiraly-Borri C; Lau C; Mansour JL; Millward MW; Monnik MJ; Pachter NS; Ragunathan A; Susman RD; Townshend SL; Trainer AH; Troth SL; Tucker KM; Wallis MJ; Walsh M; Williams RA; Winship IM; Newell F; Tudini E; Pearson JV; Poplawski NK; Mar Fan HG; James PA; Spurdle AB; Waddell N; Ward RL, 2023, 'The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study', Genome Medicine, 15, http://dx.doi.org/10.1186/s13073-023-01223-1

Yanes T; Sullivan A; Barbaro P; Brion K; Hollway G; Peake J; McNaughton P, 2023, 'Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity', European Journal of Human Genetics, 31, pp. 1125 - 1132, http://dx.doi.org/10.1038/s41431-023-01321-z

McCart Reed AE; Hollway G; Lakhani S, 2023, 'The Queensland IMplementation of PRecision Oncology in brEast cancer (Q-IMPROvE) pilot study', Medical Journal of Australia, 218, pp. 374 - 375, http://dx.doi.org/10.5694/mja2.51900

Davidson AL; Kondrashova O; Leonard C; Wood S; Tudini E; Hollway GE; Pearson JV; Newell F; Spurdle AB; Waddell N, 2022, 'Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions', Human Mutation, 43, pp. 2054 - 2062, http://dx.doi.org/10.1002/humu.24468

Gordon LG; Elliott TM; Bennett C; Hollway G; Waddell N; Vadlamudi L, 2022, 'Early cost–utility analysis of genetically guided therapy for patients with drug-resistant epilepsy', Epilepsia, 63, pp. 3111 - 3121, http://dx.doi.org/10.1111/epi.17408

Tudini E; Andrews J; Lawrence DM; King-Smith SL; Baker N; Baxter L; Beilby J; Bennetts B; Beshay V; Black M; Boughtwood TF; Brion K; Cheong PL; Christie M; Christodoulou J; Chong B; Cox K; Davis MR; Dejong L; Dinger ME; Doig KD; Douglas E; Dubowsky A; Ellul M; Fellowes A; Fisk K; Fortuno C; Friend K; Gallagher RL; Gao S; Hackett E; Hadler J; Hipwell M; Ho G; Hollway G; Hooper AJ; Kassahn KS; Krishnaraj R; Lau C; Le H; San Leong H; Lundie B; Lunke S; Marty A; McPhillips M; Nguyen LT; Nones K; Palmer K; Pearson JV; Quinn MCJ; Rawlings LH; Sadedin S; Sanchez L; Schreiber AW; Sigalas E; Simsek A; Soubrier J; Stark Z; Thompson BA; U J; Vakulin CG; Wells AV; Wise CA; Woods R; Ziolkowski A; Brion MJ; Scott HS; Thorne NP; Spurdle AB, 2022, 'Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation', American Journal of Human Genetics, 109, pp. 1960 - 1973, http://dx.doi.org/10.1016/j.ajhg.2022.10.006

Ramarao-Milne P; Kondrashova O; Patch AM; Nones K; Koufariotis LT; Newell F; Addala V; Lakis V; Holmes O; Leonard C; Wood S; Xu Q; Mukhopadhyay P; Naeini MM; Steinfort D; Williamson JP; Bint M; Pahoff C; Nguyen PT; Twaddell S; Arnold D; Grainge C; Basirzadeh F; Fielding D; Dalley AJ; Chittoory H; Simpson PT; Aoude LG; Bonazzi VF; Patel K; Barbour AP; Fennell DA; Robinson BW; Creaney J; Hollway G; Pearson JV; Waddell N, 2022, 'Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panels', ESMO Open, 7, http://dx.doi.org/10.1016/j.esmoop.2022.100540

Yap JY; Moens L; Lin MW; Kane A; Kelleher A; Toong C; Wu KHC; Sewell WA; Phan TG; Hollway GE; Enthoven K; Gray PE; Casas-Martin J; Wouters C; De Somer L; Hershfield M; Bucciol G; Delafontaine S; Ma CS; Tangye SG; Meyts I, 2021, 'Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency', Journal of Clinical Immunology, 41, pp. 1915 - 1935, http://dx.doi.org/10.1007/s10875-021-01141-0

Davidson AL; Leonard C; Koufariotis LT; Parsons MT; Hollway GE; Pearson JV; Newell F; Waddell N; Spurdle AB, 2021, 'Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model', Human Mutation, 42, pp. 530 - 536, http://dx.doi.org/10.1002/humu.24183

Mallawaarachchi AC; Lundie B; Hort Y; Schonrock N; Senum SR; Gayevskiy V; Minoche AE; Hollway G; Ohnesorg T; Hinchcliffe M; Patel C; Tchan M; Mallett A; Dinger ME; Rangan G; Cowley MJ; Harris PC; Burnett L; Shine J; Furlong TJ, 2021, 'Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing', European Journal of Human Genetics, 29, pp. 760 - 770, http://dx.doi.org/10.1038/s41431-020-00796-4

Rodriguez-Acevedo AJ; Gordon LG; Waddell N; Hollway G; Vadlamudi L, 2021, 'Developing a gene panel for pharmacoresistant epilepsy: A review of epilepsy pharmacogenetics', Pharmacogenomics, 22, pp. 225 - 234, http://dx.doi.org/10.2217/pgs-2020-0145

Pajic M; Froio D; Daly S; Doculara L; Millar E; Graham PH; Drury A; Steinmann A; De Bock CE; Boulghourjian A; Zaratzian A; Carroll S; Toohey J; O'Toole SA; Harris AL; Buffa FM; Gee HE; Hollway GE; Molloy TJ, 2018, 'miR-139-5p modulates radiotherapy resistance in breast cancer by repressing multiple gene networks of DNA repair and ROS defense', Cancer Research, 78, pp. 501 - 515, http://dx.doi.org/10.1158/0008-5472.CAN-16-3105

Nguyen PD; Hollway GE; Sonntag C; Miles LB; Hall TE; Berger S; Fernandez KJ; Gurevich DB; Cole NJ; Alaei S; Ramialison M; Sutherland RL; Polo JM; Lieschke GJ; Currie PD, 2014, 'Haematopoietic stem cell induction by somite-derived endothelial cells controlled by meox1', Nature, 512, pp. 314 - 318, http://dx.doi.org/10.1038/nature13678

Johnson JF; Hall TE; Dyson JM; Sonntag C; Ayers K; Berger S; Gautier P; Mitchell CA; Hollway GE; Currie P, 2012, 'Scube activity is necessary for Hedgehog signal transduction in vivo', Developmental Biology, 368, pp. 193 - 202, http://dx.doi.org/10.1016/j.ydbio.2012.05.007

Bower NI; Garcia De La Maria D; Cole NJ; Hollway GE; Lee H-T; Assinder S; Johnston IA, 2012, 'Stac3 is required for myotube formation and myogenic differentiation in vertebrate skeletal muscle', The Journal of Biological Chemistry, 287, pp. 43936 - 43949, http://dx.doi.org/10.1074/jbc.M112.361311

Svetic V; Hollway GE; Elworthy S; Chipperfield TR; Davison C; Adams R; Eisen J; Ingham PW; Currie P; Kelsh RN, 2007, 'Sdf1a patterns zebrafish melanophores and links the somite and melanophore pattern defects in choker mutants', Development (Cambridge), 134 (5), pp. 1011 - 1022

Hall T; Bryson-Richardson RJ; Berger S; Jacoby AS; Cole NJ; Hollway GE; Berger J; Currie P, 2007, 'The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha 2-deficient congenital muscular dystrophy', Proceedings of the National Academy of Sciences of the United States of America, 104, pp. 7092 - 7097

Hollway GE; Bryson-Richardson RJ; Berger S; Cole N; Hall T; Currie P, 2007, 'Whole-somite rotation generates muscle progenitor cell compartments in the developing zebrafish embryo', Developmental Cell, 12, pp. 207 - 219

Hollway GE; Maule J; Gautier P; Keenan DG; Lohs C; Fischer D; Wicking C; Currie P; Evans TM, 2006, 'Scube2 mediates Hedgehog signalling in the zebrafish embryo', Developmental Biology, 294, pp. 104 - 118

Hollway G; Currie P, 2005, 'Vertebrate myotome development', Birth Defects Research Part C - Embryo Today: Reviews, 75, pp. 172 - 179, http://dx.doi.org/10.1002/bdrc.20046

Haines L; Neyt C; Gautier P; Keenan DG; Bryson-Richardson RJ; Hollway GE; Cole N; Currie P, 2004, 'Met and Hgf signaling controls hypaxial muscle and lateral linedevelopment in the zebrafish', Development (Cambridge), 131, pp. 4857 - 4869

Kalscheuer VM; Tao J; Donnelly A; Hollway G; Schwinger E; Kübart S; Menzel C; Hoeltzenbein M; Tommerup N; Eyre H; Harbord M; Haan E; Sutherland GR; Ropers HH; Gécz J, 2003, 'Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation', American Journal of Human Genetics, 72, pp. 1401 - 1411, http://dx.doi.org/10.1086/375538

Hollway GE; Currie P, 2003, 'Myotome meanderings. Cellular morphogenesis and the making of muscles', EMBO Reports, 4, pp. 855 - 860

Hollway GE; Currie PD, 2000, 'Zebrafish earn their stripes', Trends in Genetics, 16, pp. 236 - 236, http://dx.doi.org/10.1016/s0168-9525(00)01992-2

Gécz J; Barnett S; Liu J; Hollway G; Donnelly A; Eyre H; Eshkevari HS; Baltazar R; Grunn A; Nagaraja R; Gilliam C; Peltonen L; Sutherland GR; Baron M; Mulley JC, 1999, 'Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardation', Genomics, 62, pp. 356 - 368, http://dx.doi.org/10.1006/geno.1999.6032

Hollway GE; Mulley JC, 1998, 'Polymorphic variants within the homeobox gene MSX1: A candidate gene for developmental disorders', Clinical Genetics, 54, pp. 152 - 154, http://dx.doi.org/10.1111/j.1399-0004.1998.tb03719.x

Holloway G; Suthers GK; Battese K; Turner AM; David DJ; Mulley JC, 1998, 'Deafness due to PRO250 ARG mutation of FGFR3', Lancet, pp. 877 - 878

Hollway GE; Suthers GK; Haan EA; Thompson E; David DJ; Gecz J; Mulley JC, 1997, 'Mutation detection in FGFR2 craniosynostosis syndromes', Human Genetics, 99, pp. 251 - 255, http://dx.doi.org/10.1007/s004390050348

Muenke M; Gripp KW; McDonald-McGinn DM; Gaudenz K; Whitaker LA; Bartlett SP; Markowitz RI; Robin NH; Nwokoro N; Mulvihill JJ; Losken HW; Mulliken JB; Guttmacher AE; Wilroy RS; Clarke LA; Hollway G; Adès LC; Haan EA; Mulley JC; Cohen MM; Bellus GA; Francomano CA; Moloney DM; Wall SA; Wilkie AOM; Zackai EH, 1997, 'A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome', American Journal of Human Genetics, 60, pp. 555 - 564

Hollway GE; Phillips HA; Adès LC; Haan EA; Mulley JC, 1995, 'Localization of craniosynostosis adelaide type to 4p16', Human Molecular Genetics, 4, pp. 681 - 683, http://dx.doi.org/10.1093/hmg/4.4.681

Phillips HA; Scheffer IE; Berkovic SF; Hollway GE; Sutherland GR; Mulley JC, 1995, 'Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2', Nature Genetics, 10, pp. 117 - 118, http://dx.doi.org/10.1038/ng0595-117

Edwards MJ; Challinor CJ; Colley PW; Roberts J; Partington MW; Hollway GE; Kozman HM; Mulley JC, 1994, 'Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1', American Journal of Medical Genetics, 53, pp. 65 - 71, http://dx.doi.org/10.1002/ajmg.1320530114

Conference Papers

Davidson AL; Dressel U; Newell F; Fan HM; Tudini E; Koufariotis LT; Kazakoff SH; Hollway G; Reed AEM; Kondrashova O; Nones K; Glubb D; Holmes O; Leonard C; Wood S; Xu C; Pearson JV; Poplawski N; James PA; Mitchell G; Ward RL; Spurdle AB; Waddell N, 2020, 'Hereditary cancer whole genome sequencing project to identify pathogenic germline variants', in ASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, WILEY, pp. 108 - 109, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000790145400118&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Ramarao-Milne KP; Patch A-M; Nones K; Koufariotis R; Newell F; Addala VR; Kondrashova O; Mukhopadhyay P; Kazakoff SH; Lakis V; Holmes O; Leonard C; Wood S; Xu C; Pearson JV; Hollway G; Waddell N, 2019, 'Detection of actionable variants in various cancer types reveals value of whole-genome sequencing over in-silico whole-exome and hotspot panel sequencing', in ANNALS OF ONCOLOGY, OXFORD UNIV PRESS, ENGLAND, London, presented at Conference on Molecular Analysis for Personalised Therapy (MAP), ENGLAND, London, 07 November 2019 - 09 November 2019, http://dx.doi.org/10.1093/annonc/mdz413.119

Hollway GE; Johnson JL; Maule J; Gautier P; Jacoby A; Keenan DG; Fischer DF; Evans TM; Wicking C; Currie PD, 2005, 'Zebrafish scube 2 is required for Hedgehog signalling', in MECHANISMS OF DEVELOPMENT, ELSEVIER SCIENCE BV, pp. S68 - S68, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000207524100250&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Conference Abstracts

Dai P; Hollway G; Ohnesorg T; Hobbs M; Reeves J; Gray P; Wong M; Copty J; Enthoven K; Kummerfeld S; Monger S; Giannoulatou E; Lin M-W; Young M-A; Tangye S; Burnett L; Tri GP, 2021, 'RE-ANALYSIS OF WHOLE GENOME SEQUENCING DATA IN PATIENTS WITH UNDIAGNOSED INBORN ERRORS OF IMMUNITY', in INTERNAL MEDICINE JOURNAL, WILEY, Vol. 51, pp. 23 - 23, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000713717300054&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Lundie B; Minoche AE; Gayevskiy V; Lee E; Ewans L; Hollway G; Ohnesorg T; Sherstyuk A; Dinger M; Cowley MJ; Burnett L, 2018, 'Clinical utility of copy number variant (CNV) detection by whole genome sequencing (WGS)', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 502 - 502, 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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104146&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Lundie B; Ewans L; Lee E; Hollway G; Ohnesorg T; Statham A; Burnett L; Young M; Taouk H; Richardson E; Dinger M, 2018, 'Utility of clinical Whole Genome Sequencing (WGS): diagnostic success factors now and into the future', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 542 - 542, 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, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313104228&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Hollway G; Bakshi M; Colley A; Ewans L; Ohnesorg T; Lee E; Kirk E; Lau C; Wu K; Richardson E; Statham A; Burnett L; Lundie B; Dinger M, 2018, 'Whole genome sequencing in a clinical setting is expanding our understanding of the phenotypic spectrum of rare diseases', in HUMAN GENOMICS, BIOMED CENTRAL LTD, Vol. 12, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000427728400128&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Preprints

McCart Reed AE; McCurry T; Hollway G; Al-Saig H; Andelkovic V; Cuff K; Cummings M; Fairbairn D; Inglis P-L; Jagger G; Johanson H; Kalinowski L; Kondrashova O; Koufariotis LT; Kuchel A; Ladwa R; Lau C; Lundie B; Fan HM; McCarthy N; Middleton K; Murugappan K; Nalder M; Niland C; Nottage MK; O’Byrne KJ; Pearson JV; Roberts K; Hormaechea GS; Snell C; Steinke K; Suder A; Tam D; Walpole E; Woodward N; Wong C; Wong HY; Xu W; Simpson PT; Waddell N; Lakhani SR, 2023, The Q-IMPROvE (Queensland-IMplementation of PRecision Oncology in brEast cancer) pilot study, http://dx.doi.org/10.1101/2023.02.21.23286199

Yanes T; Sullivan A; Barbaro P; Brion K; Hollway G; Peake J, 2022, Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity, http://dx.doi.org/10.21203/rs.3.rs-2197272/v1

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