Elizabeth E Palmer

Elizabeth E Palmer

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Elizabeth E Palmer

Elizabeth E Palmer

Publications by authors named "Elizabeth E Palmer"

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encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Neurology 2019 Jul 20;93(3):114-123. Epub 2019 Jun 20.

From the Clem Jones Centre for Ageing Dementia Research, Queensland Brain Institute (V.L., Y.J.C., J.Z.B., F.A.M.), the University of Queensland, St. Lucia Campus, Brisbane, Australia; Neurogenetics Group (S.W.), University of Antwerp, Belgium; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp; Department of Neurology (S.W.), Antwerp University Hospital, Belgium; School of Women's and Children's Health (E.E.P.), University of New South Wales, Sydney; Genetics of Learning Disability Service (E.E.P.), Hunter New England Health, Newcastle; Department of Clinical Genetics (E.E.P.), Sydney Children's Hospital; and Institute for Molecular Bioscience (B.M.C.), the University of Queensland, Brisbane, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000007786DOI Listing
July 2019

Expanding the spectrum of mutations and novel insights into disease mechanisms.

Mol Genet Metab Rep 2018 Sep 20;16:46-51. Epub 2018 Jul 20.

Department of Neurogenetics, Kolling Institute, Royal North Shore Hospital, St. Leonards, NSW, Australia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072801PMC
September 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Cell 2018 02;172(5):924-936.e11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2018.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832058PMC
February 2018

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.

J Paediatr Child Health 2017 Jul 27;53(7):650-656. Epub 2017 Apr 27.

Department of General Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13523DOI Listing
July 2017

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Chromosome microarray in Australia: a guide for paediatricians.

J Paediatr Child Health 2012 Feb;48(2):E59-67

Department of Medical Genetics, Sydney Children's Hospital, Randwick, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02081.xDOI Listing
February 2012