Publications by authors named "Christopher P Barnett"

24Publications

Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.

Am J Med Genet A 2020 07 24;182(7):1824-1828. Epub 2020 Apr 24.

Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61592DOI Listing
July 2020

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 Jul 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

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy.

Mol Vis 2018 21;24:478-484. Epub 2018 Jul 21.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066270PMC
November 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Am J Med Genet A 2016 11 2;170(11):2960-2964. Epub 2016 Aug 2.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37856DOI Listing
November 2016

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders.

Eur J Hum Genet 2016 Mar 10;24(3):373-80. Epub 2015 Jun 10.

Department of Paediatrics, School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757771PMC
March 2016

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

Am J Med Genet A 2014 Jul 29;164A(7):1846-9. Epub 2014 Apr 29.

Pediatric & Reproductive Genetics, SA Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36342DOI Listing
July 2014

Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling.

J AAPOS 2014 Feb;18(1):90-2

Women's and Children's Hospital, Adelaide, South Australia, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2013.10.017DOI Listing
February 2014

Interstitial deletion at chromosome 16p13.2 involving TMEM114 (transmembrane protein 114) in a boy and his father without cataract.

Am J Med Genet A 2014 Mar 19;164A(3):834-6. Epub 2013 Dec 19.

University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36336DOI Listing
March 2014

6p.24 microdeletion involving TFAP2A without classic features of branchio-oculo-facial syndrome.

Am J Med Genet A 2013 Apr 12;161A(4):901-4. Epub 2013 Mar 12.

Pediatric and Reproductive Genetics Unit, SA Pathology/Women's and Children's Hospital, South Australian Clinical Genetics Service, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35804DOI Listing
April 2013

Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.

Am J Med Genet A 2012 Dec 20;158A(12):3168-73. Epub 2012 Nov 20.

South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35456DOI Listing
December 2012

Novel clinical features in pontine tegmental cap dysplasia.

Pediatr Neurol 2012 Jun;46(6):393-6

South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.02.032DOI Listing
June 2012

Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

Pediatr Cardiol 2012 Jun 29;33(5):827-30. Epub 2012 Feb 29.

SA Clinical Genetics Service, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1007/s00246-012-0214-yDOI Listing
June 2012

Short stature due to 15q26 microdeletion involving IGF1R: report of an additional case and review of the literature.

Am J Med Genet A 2011 Dec 7;155A(12):3139-43. Epub 2011 Nov 7.

SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.34310
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http://dx.doi.org/10.1002/ajmg.a.34310DOI Listing
December 2011

Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.

Pediatr Neurol 2011 Sep;45(3):185-8

South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.009DOI Listing
September 2011

Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?

Eur J Hum Genet 2011 Jun 26;19(6):624-33. Epub 2011 Jan 26.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/ejhg.2010.259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110047PMC
June 2011

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene.

Am J Med Genet A 2010 Sep;152A(9):2409-12

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33406DOI Listing
September 2010