Publications by authors named "Kathryn L Friend"

10Publications

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

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