Gabrielle R Wilson

Genetic Analysis of in an Early-Onset Parkinson's Disease Cohort.

Authors:

Yujing Gao Gabrielle R Wilson Nicholas Salce Alexandra Romano George D Mellick Sarah E M Stephenson Paul J Lockhart

Front Neurol 2020 26;11:523. Epub 2020 Jun 26.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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June 2020

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.

Authors:

Yujing Gao Gabrielle R Wilson Sarah E M Stephenson Mustapha Oulad-Abdelghani Nicolas Charlet-Berguerand Kiymet Bozaoglu Catriona A McLean Paul Q Thomas David I Finkelstein Paul J Lockhart

Mol Brain 2020 03 30;13(1):52. Epub 2020 Mar 30.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, 50 Flemington Road, Parkville, Victoria, 3052, Australia.

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March 2020

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Authors:

Sarah Em Stephenson Ruth Djaldetti Haloom Rafehi Gabrielle R Wilson Greta Gillies Melanie Bahlo Paul J Lockhart

Parkinsonism Relat Disord 2019 07 22;64:308-311. Epub 2019 Mar 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Flemington Road, Parkville, Victoria, 3052, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, 3052, Australia. Electronic address:

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July 2019

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

Authors:

Ivo J H M de Vos Evelyn Yaqiong Tao Sheena Li Ming Ong Julian L Goggi Thomas Scerri Gabrielle R Wilson Chernis Guai Mun Low Arnette Shi Wei Wong Dominic Grussu Alexander P A Stegmann Michel van Geel Renske Janssen David J Amor Melanie Bahlo Norris R Dunn Thomas J Carney Paul J Lockhart Barry J Coull Maurice A M van Steensel

Hum Mol Genet 2018 08;27(16):2775-2788

Institute of Medical Biology (IMB), Agency for Science, Technology and Research (A*STAR), Singapore 138648, Singapore.

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August 2018

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

Authors:

Yujing Gao Gabrielle R Wilson Kiymet Bozaoglu Andrew G Elefanty Edouard G Stanley Mirella Dottori Paul J Lockhart

Stem Cell Res 2018 04 21;28:161-164. Epub 2018 Feb 21.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, 3052, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, 3052, Australia. Electronic address:

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April 2018

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Authors:

Yujing Gao Gabrielle R Wilson Sarah E M Stephenson Kiymet Bozaoglu Matthew J Farrer Paul J Lockhart

Mov Disord 2018 02 9;33(2):196-207. Epub 2018 Jan 9.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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February 2018

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Authors:

Dean G Phelan David J Anderson Sara E Howden Raymond C B Wong Peter F Hickey Kate Pope Gabrielle R Wilson Alice Pébay Andrew M Davis Steven Petrou Andrew G Elefanty Edouard G Stanley Paul A James Ivan Macciocca Melanie Bahlo Michael M Cheung David J Amor David A Elliott Paul J Lockhart

Eur Heart J 2016 Sep 22;37(33):2586-90. Epub 2016 Apr 22.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Flemington Road, Parkville 3052, Victoria, Australia Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville 3052, Victoria, Australia

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September 2016

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Am J Hum Genet 2014 Dec 26;95(6):729-35. Epub 2014 Nov 26.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address:

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December 2014

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

Authors:

Joe C H Sim Susan M White Elizabeth Fitzpatrick Gabrielle R Wilson Greta Gillies Kate Pope Hayley S Mountford Pernille M Torring Shane McKee Anneke T Vulto-van Silfhout Shalini N Jhangiani Donna M Muzny Richard J Leventer Martin B Delatycki David J Amor Paul J Lockhart

Orphanet J Rare Dis 2014 Mar 27;9:43. Epub 2014 Mar 27.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia.

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March 2014

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Authors:

Gabrielle R Wilson Jasmine Sunley Katherine R Smith Kate Pope Catherine J Bromhead Elizabeth Fitzpatrick Maja Di Rocco Maurice van Steensel David J Coman Richard J Leventer Martin B Delatycki David J Amor Melanie Bahlo Paul J Lockhart

Eur J Hum Genet 2014 Jun 9;22(6):741-7. Epub 2013 Oct 9.

1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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June 2014

ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible.

Authors:

Martin B Delatycki Michelle Wolthuizen Veronica Collins Elizabeth Varley Joanna Craven Katrina J Allen Lyle C Gurrin Maryanne Aitken M Kaye Trembath Lyndal Bond Gabrielle R Wilson Sarah E M Stephenson Ivan Macciocca Chriselle Hickerton Paul J Lockhart Sylvia A Metcalfe

Eur J Hum Genet 2012 May 11;20(5):505-9. Epub 2012 Jan 11.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.

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May 2012

Deletion of the Parkin co-regulated gene causes defects in ependymal ciliary motility and hydrocephalus in the quakingviable mutant mouse.

Authors:

Gabrielle R Wilson Hong X Wang Gary F Egan Philip J Robinson Martin B Delatycki Moira K O'Bryan Paul J Lockhart

Hum Mol Genet 2010 Apr 27;19(8):1593-602. Epub 2010 Jan 27.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville 3052, Australia.

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April 2010

Expression and localization of the Parkin co-regulated gene in mouse CNS suggests a role in ependymal cilia function.

Authors:

Gabrielle R Wilson Jacqueline T Tan Kate M Brody Juliet M Taylor Martin B Delatycki Paul J Lockhart

Neurosci Lett 2009 Aug 20;460(1):97-101. Epub 2009 May 20.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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August 2009

Molecular analysis of the PArkin co-regulated gene and association with male infertility.

Authors:

Gabrielle R Wilson Marcus L-J Sim Kate M Brody Juliet M Taylor Robert I McLachlan Moira K O'Bryan Martin B Delatycki Paul J Lockhart

Fertil Steril 2010 May 6;93(7):2262-8. Epub 2009 Mar 6.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, 3052, Victoria, Australia.

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May 2010

Regional and cellular localisation of Parkin co-regulated gene in developing and adult mouse brain.

Authors:

Kate M Brody Juliet M Taylor Gabrielle R Wilson Martin B Delatycki Paul J Lockhart

Brain Res 2008 Mar 30;1201:177-86. Epub 2008 Jan 30.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, 3052, Australia.

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March 2008

IL-12p40 and IL-18 in crescentic glomerulonephritis: IL-12p40 is the key Th1-defining cytokine chain, whereas IL-18 promotes local inflammation and leukocyte recruitment.

Authors:

A Richard Kitching Amanda L Turner Gabrielle R A Wilson Timothy Semple Dragana Odobasic Jennifer R Timoshanko Kim M O'Sullivan Peter G Tipping Kiyoshi Takeda Shizuo Akira Stephen R Holdsworth

J Am Soc Nephrol 2005 Jul 11;16(7):2023-33. Epub 2005 May 11.

Centre for Inflammatory Diseases, Monash University Department of Medicine, Monash Medical Centre, 246 Clayton Road, Clayton, Victoria 3168, Australia.

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July 2005