Publications by authors named "Kathryn Friend"

27Publications

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.

Eur J Hum Genet 2016 11 25;24(11):1612-1616. Epub 2016 May 25.

School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110046PMC
November 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

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

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http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Pathology 2014 Jan;46(1):41-5

1Cytogenetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 2Molecular Genetics, Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide 3School of Molecular and Biomedical Sciences, The University of Adelaide 4School of Paediatrics and Reproductive Health, The University of Adelaide 5South Australian Clinical Genetics Service, SA Pathology at Women's and Children's Hospital, North Adelaide 6Centre for Disability Health, North East Clinic, Modbury Hospital, Adelaide 7Ashford Medical Centre, Ashford, Adelaide 8Flinders Medical Centre, Bedford Park 9Calvary Hospital, North Adelaide 10Women's and Children's Health Network, North Adelaide 11Parks Community Health Service, Angle Park, South Australia, Australia 12see Acknowledgements for all members.

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http://linkinghub.elsevier.com/retrieve/pii/S003130251630641
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http://dx.doi.org/10.1097/PAT.0000000000000043DOI Listing
January 2014

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Neuromuscul Disord 2013 Feb 3;23(2):165-9. Epub 2012 Dec 3.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1016/j.nmd.2012.11.005DOI Listing
February 2013

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.

Am J Med Genet B Neuropsychiatr Genet 2013 Jan 26;162B(1):24-35. Epub 2012 Nov 26.

Department of Genetic Medicine, SA Pathology at Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.b.32114DOI Listing
January 2013

A novel locus for X-linked congenital cataract on Xq24.

Mol Vis 2008 Apr 18;14:721-6. Epub 2008 Apr 18.

Department of Ophthalmology, Flinders University, Adelaide, SA, Australia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2324122PMC
April 2008

Common chromosomal fragile site FRA16D mutation in cancer cells.

Hum Mol Genet 2005 May 6;14(10):1341-9. Epub 2005 Apr 6.

ARC Special Research Centre for the Molecular Genetics of Development, ARC-NHMRC Research Network in Genes and Environment in Development, School of Molecular and Biomedical Sciences, The University of Adelaide, South Australia.

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http://dx.doi.org/10.1093/hmg/ddi144DOI Listing
May 2005