Publications by authors named "Alison E Gardner"

13Publications

Missense variant contribution to USP9X-female syndrome.

Authors:
Lachlan A Jolly Euan Parnell Alison E Gardner Mark A Corbett Luis A Pérez-Jurado Marie Shaw Gaetan Lesca Catherine Keegan Michael C Schneider Emily Griffin Felicitas Maier Courtney Kiss Andrea Guerin Kathleen Crosby Kenneth Rosenbaum Pranoot Tanpaiboon Sandra Whalen Boris Keren Julie McCarrier Donald Basel Simon Sadedin Susan M White Martin B Delatycki Tjitske Kleefstra Sébastien Küry Alfredo Brusco Elena Sukarova-Angelovska Slavica Trajkova Sehoun Yoon Stephen A Wood Michael Piper Peter Penzes Jozef Gecz

NPJ Genom Med 2020 Dec 9;5(1):53. Epub 2020 Dec 9.

University of Adelaide and Robinson Research Institute, Adelaide, SA, 5005, Australia.

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December 2020

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Authors:
Raman Kumar Elizabeth Palmer Alison E Gardner Renee Carroll Siddharth Banka Ola Abdelhadi Dian Donnai Ype Elgersma Cynthia J Curry Alice Gardham Mohnish Suri Rishikesh Malla Lauren Ilana Brady Mark Tarnopolsky Dimitar N Azmanov Vanessa Atkinson Michael Black Gareth Baynam Lauren Dreyer Robin Z Hayeems Christian R Marshall Gregory Costain Marja W Wessels Julia Baptista James Drummond Melanie Leffler Michael Field Jozef Gecz

Front Mol Neurosci 2020 11;13:12. Epub 2020 Feb 11.

Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.

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February 2020

Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Authors:
Mark A Corbett Clare L van Eyk Dani L Webber Stephen J Bent Morgan Newman Kelly Harper Jesia G Berry Dimitar N Azmanov Karen J Woodward Alison E Gardner Jennie Slee Luís A Pérez-Jurado Alastair H MacLennan Jozef Gecz

NPJ Genom Med 2019 31;4:11. Epub 2019 May 31.

1Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia 5000 Australia.

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May 2019

Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.

Authors:
Mark A Corbett Clare L van Eyk Dani L Webber Stephen J Bent Morgan Newman Kelly Harper Jesia G Berry Dimitar N Azmanov Karen J Woodward Alison E Gardner Jennie Slee Luís A Pérez-Jurado Alastair H MacLennan Jozef Gecz

NPJ Genom Med 2018 14;3:33. Epub 2018 Dec 14.

1Robinson Research Institute & Adelaide Medical School, University of Adelaide, Adelaide, South Australia 5000 Australia.

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December 2018

Mutations in DEPDC5 cause familial focal epilepsy with variable foci.

Authors:
Leanne M Dibbens Boukje de Vries Simona Donatello Sarah E Heron Bree L Hodgson Satyan Chintawar Douglas E Crompton James N Hughes Susannah T Bellows Karl Martin Klein Petra M C Callenbach Mark A Corbett Alison E Gardner Sara Kivity Xenia Iona Brigid M Regan Claudia M Weller Denis Crimmins Terence J O'Brien Rosa Guerrero-López John C Mulley Francois Dubeau Laura Licchetta Francesca Bisulli Patrick Cossette Paul Q Thomas Jozef Gecz Jose Serratosa Oebele F Brouwer Frederick Andermann Eva Andermann Arn M J M van den Maagdenberg Massimo Pandolfo Samuel F Berkovic Ingrid E Scheffer

Nat Genet 2013 May 31;45(5):546-51. Epub 2013 Mar 31.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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May 2013

Eat your vegetables.

Authors:
Alison E Gardner

Oncology (Williston Park) 2012 Jun;26(6):585-6

The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

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June 2012

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Authors:
Sarah E Heron Bronwyn E Grinton Sara Kivity Zaid Afawi Sameer M Zuberi James N Hughes Clair Pridmore Bree L Hodgson Xenia Iona Lynette G Sadleir James Pelekanos Eric Herlenius Hadassa Goldberg-Stern Haim Bassan Eric Haan Amos D Korczyn Alison E Gardner Mark A Corbett Jozef Gécz Paul Q Thomas John C Mulley Samuel F Berkovic Ingrid E Scheffer Leanne M Dibbens

Am J Hum Genet 2012 Jan;90(1):152-60

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.

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January 2012

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.

Authors:
Mark A Corbett Michael Schwake Melanie Bahlo Leanne M Dibbens Meng Lin Luke C Gandolfo Danya F Vears John D O'Sullivan Thomas Robertson Marta A Bayly Alison E Gardner Annemarie M Vlaar G Christoph Korenke Bastiaan R Bloem Irenaeus F de Coo Judith M A Verhagen Anna-Elina Lehesjoki Jozef Gecz Samuel F Berkovic

Am J Hum Genet 2011 May 5;88(5):657-63. Epub 2011 May 5.

Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.

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May 2011

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

Authors:
Mark A Corbett Melanie Bahlo Lachlan Jolly Zaid Afawi Alison E Gardner Karen L Oliver Stanley Tan Amy Coffey John C Mulley Leanne M Dibbens Walid Simri Adel Shalata Sara Kivity Graeme D Jackson Samuel F Berkovic Jozef Gecz

Am J Hum Genet 2010 Sep;87(3):371-5

Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.

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September 2010

Aberrant CBFA2T3B gene promoter methylation in breast tumors.

Authors:
Anthony J Bais Alison E Gardner Olivia L D McKenzie David F Callen Grant R Sutherland Gabriel Kremmidiotis

Mol Cancer 2004 Aug 10;3:22. Epub 2004 Aug 10.

Bionomics Limited, Thebarton, Adelaide, SA 5031, Australia.

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August 2004

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

Authors:
Kavita Bhalla Hilary A Phillips Joanna Crawford Olivia L D McKenzie John C Mulley Helen Eyre Alison E Gardner Gabriel Kremmidiotis David F Callen

J Hum Genet 2004 18;49(6):308-311. Epub 2004 May 18.

Department of Medicine, Breast Cancer Genetics Group, Hanson Institute (North Building), Institute of Medical and Veterinary Science, University of Adelaide, P.O. Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia.

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July 2004

Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.

Authors:
Jason A Powell Alison E Gardner Anthony J Bais Susan J Hinze Elizabeth Baker Scott Whitmore Joanna Crawford Marina Kochetkova Hayley E Spendlove Norman A Doggett Grant R Sutherland David F Callen Gabriel Kremmidiotis

Genomics 2002 Sep;80(3):303-10

Centre for Medical Genetics, Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide, South Australia, 5006, Australia.

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September 2002

CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3.

Authors:
Marina Kochetkova Olivia L D McKenzie Anthony J Bais Julie M Martin Genevieve A Secker Ram Seshadri Jason A Powell Susan J Hinze Alison E Gardner Hayley E Spendlove Nathan J O'Callaghan Anne-Marie Cleton-Jansen Cees Cornelisse Scott A Whitmore Joanna Crawford Gabriel Kremmidiotis Grant R Sutherland David F Callen

Cancer Res 2002 Aug;62(16):4599-604

Department of Cytogenetics and Molecular Genetics, Women's and Children's Hospital, North Adelaide 5006, South Australia, Australia.

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August 2002