Publications by authors named "Peer Arts"

22Publications

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.

Am J Med Genet A 2020 05 6;182(5):1273-1277. Epub 2020 Mar 6.

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7217179PMC
May 2020

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.

J Med Genet 2020 07 27;57(7):454-460. Epub 2020 Jan 27.

Department of Genetics and Molecular Pathology, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia

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http://dx.doi.org/10.1136/jmedgenet-2019-106700DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7361035PMC
July 2020

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

NPJ Genom Med 2019 14;4:28. Epub 2019 Nov 14.

1Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An alliance between SA Pathology and the University of South Australia, Adelaide, SA Australia.

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http://dx.doi.org/10.1038/s41525-019-0103-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110PMC
November 2019

Quantification of differential gene expression by multiplexed targeted resequencing of cDNA.

Nat Commun 2017 05 5;8:15190. Epub 2017 May 5.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ncomms15190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5424154PMC
May 2017

MST1R mutation as a genetic cause of Lady Windermere syndrome.

Eur Respir J 2017 01 18;49(1). Epub 2017 Jan 18.

Dept of Internal Medicine, Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands

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http://dx.doi.org/10.1183/13993003.01478-2016DOI Listing
January 2017

Immunologic defects in severe mucocutaneous HSV-2 infections: Response to IFN-γ therapy.

J Allergy Clin Immunol 2016 09 7;138(3):895-898. Epub 2016 Apr 7.

Department of Internal Medicine, and RadboudUMC Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.02.025DOI Listing
September 2016

Progressive multifocal leukoencephalopathy in an immunocompetent patient.

Ann Clin Transl Neurol 2016 03 8;3(3):226-32. Epub 2016 Jan 8.

Department of Neurology Radboud University Medical Center Nijmegen The Netherlands; Department of Neurology VU University Medical Center Amsterdam The Netherlands.

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http://dx.doi.org/10.1002/acn3.279DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774259PMC
March 2016

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

A de novo paradigm for mental retardation.

Nat Genet 2010 Dec 14;42(12):1109-12. Epub 2010 Nov 14.

Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ng.712DOI Listing
December 2010