Publications by authors named "Renee Carroll"

13Publications

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.

View Article

Download full-text PDF

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

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.

Eur J Med Genet 2020 Oct 17;63(10):104010. Epub 2020 Jul 17.

Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, 5000, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2020.104010DOI Listing
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.

View Article

Download full-text PDF

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

Robust imaging and gene delivery to study human lymphoblastoid cell lines.

J Hum Genet 2018 Sep 20;63(9):945-955. Epub 2018 Jun 20.

School of Medicine, The University of Adelaide, Adelaide, 5005, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-018-0483-2DOI Listing
September 2018

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Eur J Hum Genet 2017 09 14;25(9):1078-1082. Epub 2017 Jun 14.

The Robinson Research Institute, The University of Adelaide, Adelaide, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2017.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558180PMC
September 2017

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.06.002DOI Listing
August 2017

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Hum Mol Genet 2015 May 9;24(10):2861-72. Epub 2015 Feb 9.

Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA, Division of Newborn Medicine, Boston Children's Hospital, MA 02115, USA,

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406297PMC
May 2015