Publications by authors named "Matthew Hunter"

43Publications

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Eur J Hum Genet 2020 Sep 2. Epub 2020 Sep 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9016, New Zealand.

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http://dx.doi.org/10.1038/s41431-020-00718-4DOI Listing
September 2020

Management of the Traumatic Airway Obstructed by Foreign Body.

Anesthesiology 2020 07;133(1):197

From the Department of Anesthesia, Emory University, Atlanta, Georgia.

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http://dx.doi.org/10.1097/ALN.0000000000003344DOI Listing
July 2020

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

J Clin Endocrinol Metab 2020 03;105(3)

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1210/clinem/dgaa034DOI Listing
March 2020

Incidence of early-onset epilepsy: A prospective population-based study.

Seizure 2020 Feb 19;75:49-54. Epub 2019 Dec 19.

Muir Maxwell Epilepsy Centre, University of Edinburgh, Edinburgh, UK; Department of Paediatric Neurosciences, Royal Hospital for Sick Children, Edinburgh, UK.

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http://dx.doi.org/10.1016/j.seizure.2019.12.020DOI Listing
February 2020

Neurobehavioral problems in children with early-onset epilepsy: A population-based study.

Epilepsy Behav 2019 04 2;93:87-93. Epub 2019 Mar 2.

Muir Maxwell Epilepsy Centre, University of Edinburgh, UK; Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh, UK.

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http://dx.doi.org/10.1016/j.yebeh.2019.01.019DOI Listing
April 2019

Analysis of EEG networks and their correlation with cognitive impairment in preschool children with epilepsy.

Epilepsy Behav 2019 01 1;90:45-56. Epub 2018 Dec 1.

School of Engineering, Institute for Digital Communications, The University of Edinburgh, Edinburgh EH9 3FB, United Kingdom; The Muir Maxwell Epilepsy Centre, The University of Edinburgh, Edinburgh EH8 9XD, United Kingdom.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183067
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http://dx.doi.org/10.1016/j.yebeh.2018.11.011DOI Listing
January 2019

Prenatal Diagnosis of Fragile X Syndrome in a Twin Pregnancy Complicated by a Complete Retraction.

Genes (Basel) 2018 Jun 7;9(6). Epub 2018 Jun 7.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, 3052 Victoria, Australia.

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http://www.mdpi.com/2073-4425/9/6/287
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http://dx.doi.org/10.3390/genes9060287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027392PMC
June 2018

Cognitive impairment in early onset epilepsy is associated with reduced left thalamic volume.

Epilepsy Behav 2018 03;80:266-271

Muir Maxwell Epilepsy Centre, University of Edinburgh, UK; Department of Paediatric Neurology, Royal Hospital for Sick Children, Edinburgh, UK.

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http://dx.doi.org/10.1016/j.yebeh.2018.01.018DOI Listing
March 2018

Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.

Clin Case Rep 2017 02 23;5(2):164-169. Epub 2017 Jan 23.

Monash Newborn Monash Medical Centre Melbourne Victoria Australia; Department of Paediatrics Monash University Melbourne Victoria Australia; The Ritchie Centre Hudson Institute of Medical Research Clayton Victoria Australia.

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http://doi.wiley.com/10.1002/ccr3.759
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http://dx.doi.org/10.1002/ccr3.759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290521PMC
February 2017

Climatic regulation of the neurotoxin domoic acid.

Proc Natl Acad Sci U S A 2017 01 9;114(2):239-244. Epub 2017 Jan 9.

College of Earth, Ocean, and Atmospheric Sciences, Oregon State University, Corvallis, OR 97331.

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http://dx.doi.org/10.1073/pnas.1606798114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240689PMC
January 2017

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.

Genome Biol 2016 11 29;17(1):243. Epub 2016 Nov 29.

Murdoch Childrens Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1186/s13059-016-1105-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126855PMC
November 2016

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.

Am J Med Genet A 2016 12 1;170(12):3327-3332. Epub 2016 Oct 1.

Cyto-Molecular Diagnostic Research Laboratory, Victorian Clinical Genetics Services and Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37954DOI Listing
December 2016

Severe connective tissue laxity including aortic dilatation in Sotos syndrome.

Am J Med Genet A 2016 Feb 27;170A(2):531-535. Epub 2015 Nov 27.

Care4Rare Canada Consortium, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37402DOI Listing
February 2016

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

A familial 7q36.3 duplication associated with agenesis of the corpus callosum.

Am J Med Genet A 2015 Sep 5;167A(9):2201-8. Epub 2015 May 5.

The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37143DOI Listing
September 2015

Outfoxed by RBFOX1-a caution about ascertainment bias.

Am J Med Genet A 2014 Jun 24;164A(6):1411-8. Epub 2014 Mar 24.

Hunter Genetics, Newcastle, New South Wales, Australia; The University of Newcastle, School of Medicine and Public Health, Newcastle, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36458DOI Listing
June 2014

FOXP1 mutations cause intellectual disability and a recognizable phenotype.

Am J Med Genet A 2013 Dec 24;161A(12):3166-75. Epub 2013 Sep 24.

Hunter Genetics, Newcastle, NSW, Australia; John Hunter Children's Hospital, Newcastle, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36174DOI Listing
December 2013

Maternal attitudes to newborn screening for fragile X syndrome.

Am J Med Genet A 2013 Feb 9;161A(2):301-11. Epub 2013 Jan 9.

Genetics of Learning Disability, Hunter Genetics, Waratah, NSW, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35752DOI Listing
February 2013

Alpers syndrome with mutations in POLG: clinical and investigative features.

Pediatr Neurol 2011 Nov;45(5):311-8

Genetic Health, Victorian Clinical Genetics Service, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.07.008DOI Listing
November 2011

Hooke's figurations: a figural drawing attributed to Robert Hooke.

Authors:
Matthew C Hunter

Notes Rec R Soc Lond 2010 Sep;64(3):251-60

The Courtauld Institute of Art, Somerset House, Strand, London WC2R ORN, UK.

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http://dx.doi.org/10.1098/rsnr.2009.0060DOI Listing
September 2010