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Journal articles

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 S-J; 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; Fatkin D; McNamara J; Soka M; Morgan almog ; Fear V; Medi C; Stark Z; Al-Shinnag M; Fine M; Metke A; Sy R; Atherton JJ; Finlay K; Milnes D; Tang D; Austin R; Garza D; Milward M; Taylor J; Bagnall RD; Giannoulatou E; Morrish A; Taylor S; Barnett C; Gongolidis L; Morwood J; Tchan M; Blue GM; Gray B; Mountain H; Thompson T; Bodek S; Greer C; Mowat D; Thorpe J; Boggs K; Haan E; Ng C-A; Trainer A; Bogwitz M; Haas M; Nowak N; Trivedi G; Boughtwood T; Hanna B; Martinez NN; Valente G; Bray A; Harvey R; Ohanian M; van Spaendonck-Zwarts K; Brion M-J; Hayward J; O’Sullivan S; Vandenberg J; Brown J; Herrera C; Overkov A; Verma K; Richardson RB; Hill A; Pachter N; Vidgen M; Burnett L; Hollingsworth G; Patel C; Vohra J; Burns C; Hollway G; Perrin M; Waddel-Smith K; Cao M; Horton AE; Perry M; Wallis M; Carr W; Howting D; Pflaumer A; Weintraub RG; Casauria S; Ingles J; Phillips P; Wilson M; Chalinor H; Isbister J; Phuong T; Winlaw D; Chang Y; Jackson M; Pope-Couston R; Worgan L; Chapman G; James P; Poplawski NK; Wornham L; Charitou T; Jane-Pantaleo S; Punni P; Wu K; Chong B; Johnson R; Quinn MCJ; Yeates L; Collins F; Kelly A; Quinn M; Zentner D; Correnti G; King-Smith S; Rajagopalan S; Cox K; Kirk E; Raju H; Cunningham F; Kummerfeld S; Rath EM; Das D; Lassman T; Regan M; Davis J; Lipton J; Rogers J; Davis A; Lunke S; Ryan M; De Fazio P; Macciocca I; Sandaradura S; de Silva M; MacIntyre P; Schonrock N; Den Elzen N; Madelli EO; Scuffham P; Devery S; Mallawaarachchi A; Semsarian C; Dobbins J; Mansour J; Sherburn I; Dunwoodie SL; Martin E; Sherlock M-C; Dwyer N; Mathew J; Singer E; Elbracht-Leong S; Mattiske T; Smerdon C; Elliott D; McGaughran J; Smith J, 2024, 'A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship', Genetics in Medicine Open, 2, pp. 101842 - 101842, 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


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