Dr Georgina Hollway

Books

Book Chapters

Edited Books

Journal Articles

Journal articles | 2023

2023, 'Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity.', Eur J Hum Genet, http://dx.doi.org/10.1038/s41431-023-01321-z

Journal articles | 2023

2023, 'The Queensland IMplementation of PRecision Oncology in brEast cancer (Q-IMPROvE) pilot study.', Med J Aust, 218, pp. 374 - 375, http://dx.doi.org/10.5694/mja2.51900

Journal articles | 2022

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

Journal articles | 2022

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

Journal articles | 2022

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

Journal articles | 2022

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

Journal articles | 2021

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

Journal articles | 2021

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

Journal articles | 2021

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

Journal articles | 2021

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

Journal articles | 2018

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

Journal articles | 2014

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

Journal articles | 2012

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

Journal articles | 2012

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

Journal articles | 2007

2007, 'Sdf1a patterns zebrafish melanophores and links the somite and melanophore pattern defects in choker mutants', Development (Cambridge), 134 (5), pp. 1011 - 1022, http://dx.doi.org/10.1242/dev.02789

Journal articles | 2007

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, http://dx.doi.org/10.1073/pnas.0700942104

Journal articles | 2007

2007, 'Whole-somite rotation generates muscle progenitor cell compartments in the developing zebrafish embryo', Developmental Cell, 12, pp. 207 - 219, http://dx.doi.org/10.1016/j.devcel.2007.01.001

Journal articles | 2006

2006, 'Scube2 mediates Hedgehog signalling in the zebrafish embryo', Developmental Biology, 294, pp. 104 - 118, http://dx.doi.org/10.1016/j.ydbio.2006.02.032

Journal articles | 2005

2005, 'Vertebrate myotome development.', Birth Defects Res C Embryo Today, 75, pp. 172 - 179, http://dx.doi.org/10.1002/bdrc.20046

Journal articles | 2004

2004, 'Met and Hgf signaling controls hypaxial muscle and lateral linedevelopment in the zebrafish', Development (Cambridge), 131, pp. 4857 - 4869, http://dx.doi.org/10.1242/dev.01374

Journal articles | 2003

2003, 'Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.', Am J Hum Genet, 72, pp. 1401 - 1411, http://dx.doi.org/10.1086/375538

Journal articles | 2003

2003, 'Myotome meanderings. Cellular morphogenesis and the making of muscles', EMBO Reports, 4, pp. 855 - 860, http://dx.doi.org/10.1038/sj.embor.embor920

Journal articles | 2000

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

Journal articles | 1999

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

Journal articles | 1998

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

Journal articles | 1998

1998, 'Deafness due to PRO250 ARG mutation of FGFR3', Lancet, 351, pp. 877 - 878, http://dx.doi.org/10.1016/S0140-6736(98)24012-8

Journal articles | 1997

1997, 'A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.', Am J Hum Genet, 60, pp. 555 - 564, https://www.ncbi.nlm.nih.gov/pubmed/9042914

Journal articles | 1997

1997, 'Mutation detection in FGFR2 craniosynostosis syndromes', Human Genetics, 99, pp. 251 - 255, http://dx.doi.org/10.1007/s004390050348

Journal articles | 1995

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

Journal articles | 1995

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

Journal articles | 1994

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

Working Papers

Other

Preprints | 2023

2023, The Q-IMPROvE (Queensland-IMplementation of PRecision Oncology in brEast cancer) pilot study, , http://dx.doi.org/10.1101/2023.02.21.23286199

Preprints | 2022

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

Conference Papers | 2019

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

Conference Abstracts | 2018

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

Conference Papers | 2005

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

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Dr Georgina Hollway