Aaron R Jeffries

Aaron R Jeffries

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Aaron R Jeffries

Aaron R Jeffries

Publications by authors named "Aaron R Jeffries"

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Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

Profiling Regulatory Variation in the Brain: Methods for Exploring the Neuronal Epigenome.

Biol Psychiatry 2017 01;81(2):90-91

University of Exeter Medical School, University of Exeter, Exeter, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2016.10.019DOI Listing
January 2017

Random or stochastic monoallelic expressed genes are enriched for neurodevelopmental disorder candidate genes.

PLoS One 2013 27;8(12):e85093. Epub 2013 Dec 27.

Department of Neuroscience, Centre for the Cellular Basis of Behaviour, Institute of Psychiatry, King's College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085093PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3874034PMC
February 2015

Stochastic choice of allelic expression in human neural stem cells.

Stem Cells 2012 Sep;30(9):1938-47

King's College London, Institute of Psychiatry, Centre for the Cellular Basis of Behaviour, Department of Neuroscience, London, United Kingdom.

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http://dx.doi.org/10.1002/stem.1155DOI Listing
September 2012

Knockdown of the psychosis susceptibility gene ZNF804A alters expression of genes involved in cell adhesion.

Hum Mol Genet 2012 Mar 11;21(5):1018-24. Epub 2011 Nov 11.

Department of Neuroscience, Institute of Psychiatry, King’s College London, London, UK.

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http://dx.doi.org/10.1093/hmg/ddr532DOI Listing
March 2012

Effects of cis-regulatory variation differ across regions of the adult human brain.

Hum Mol Genet 2010 Nov 9;19(22):4490-6. Epub 2010 Sep 9.

Centre for the Cellular Basis of Behaviour, Department of Neuroscience, The James Black Centre, Institute of Psychiatry,King’s College London, 125 Coldharbour Lane, London, UK.

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http://dx.doi.org/10.1093/hmg/ddq380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298852PMC
November 2010

Molecular and phenotypic characterization of ring chromosome 22.

Am J Med Genet A 2005 Aug;137(2):139-47

Department of Neuroscience, Institute of Psychiatry, Denmark Hill, London SE5 8AF, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.30780DOI Listing
August 2005