Publications by authors named "Chloe Stutterd"

17Publications

Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.

J Child Neurol 2020 Oct 4:883073820960314. Epub 2020 Oct 4.

Neurogenetics Research Group, Reproduction-Genetics & Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, Brussels, Belgium.

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http://dx.doi.org/10.1177/0883073820960314DOI Listing
October 2020

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.

JIMD Rep 2020 Jan 12;51(1):11-16. Epub 2019 Nov 12.

Department of Metabolic Medicine Royal Children's Hospital Melbourne Australia.

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http://dx.doi.org/10.1002/jmd2.12081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012737PMC
January 2020

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.

Eur J Med Genet 2020 Apr 1;63(4):103774. Epub 2019 Oct 1.

Murdoch Children's Research Institute, Parkville, Victoria, Australia; Royal Children's Hospital Melbourne, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2019.103774DOI Listing
April 2020

Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.

Eur J Med Genet 2018 Dec 5;61(12):738-740. Epub 2018 Jun 5.

Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.ejmg.2018.06.002DOI Listing
December 2018

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of .

Ann Clin Transl Neurol 2017 12 7;4(12):859-864. Epub 2017 Nov 7.

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

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http://dx.doi.org/10.1002/acn3.487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740235PMC
December 2017

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Mol Genet Metab 2017 11 20;122(3):134-139. Epub 2017 Jul 20.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center For Genetic Medicine, Children's National Health System, Washington, DC, USA; Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA; Department of Integrated Systems Biology and Pediatrics, George Washington University, Washington, DC, USA; Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722655PMC
November 2017

Advances in genomic testing.

Aust Fam Physician 2017 ;46(4):200-205

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September 2017

Polymicrogyria: a common and heterogeneous malformation of cortical development.

Am J Med Genet C Semin Med Genet 2014 Jun 28;166C(2):227-39. Epub 2014 May 28.

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http://dx.doi.org/10.1002/ajmg.c.31399DOI Listing
June 2014