Publications by authors named "Emma Jenkinson"

23Publications

Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts.

Am J Hum Genet 2020 05 30;106(5):694-706. Epub 2020 Apr 30.

Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, M13 9PT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212298PMC
May 2020

Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling.

J Allergy Clin Immunol 2017 08 10;140(2):543-552.e5. Epub 2017 Jan 10.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes University, Sorbonne-Paris-Cité, Institut Imagine, Paris, France; Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.10.031DOI Listing
August 2017

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Eur J Paediatr Neurol 2016 Jul 7;20(4):604-10. Epub 2016 Apr 7.

Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, United Kingdom; INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, France; Paris Descartes, Sorbonne Paris Cité University, Institute Imagine, Paris, France.

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http://dx.doi.org/10.1016/j.ejpn.2016.03.009DOI Listing
July 2016

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Hum Mutat 2015 May 6;36(5):489-95. Epub 2015 Apr 6.

Keizo Asami Laboratory (LIKA), Universidade Federal de Pernambuco (UFPE), Recife, Brazil.

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http://dx.doi.org/10.1002/humu.22778DOI Listing
May 2015

Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.

J Immunol 2015 Mar 11;194(6):2819-25. Epub 2015 Feb 11.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester M13 9WL, United Kingdom; Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Necker Hospital for Sick Children, 75015 Paris, France.

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http://dx.doi.org/10.4049/jimmunol.1403157DOI Listing
March 2015

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Am J Med Genet A 2011 Dec 14;155A(12):2910-5. Epub 2011 Oct 14.

Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34292DOI Listing
December 2011

Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome?

Am J Med Genet A 2011 Jan 10;155A(1):9-13. Epub 2010 Dec 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.33663DOI Listing
January 2011

Bupropion toxicokinetic: a case report.

Clin Toxicol (Phila) 2010 May;48(4):385-7

Department of Anaesthetics, UHB NHS Trust, Sellyoak, Birmingham, UK.

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http://dx.doi.org/10.3109/15563651003623289DOI Listing
May 2010

What are the highest priorities for research in emergency prehospital care?

Emerg Med J 2009 Aug;26(8):549-50

Centre for Health Information, Research and Evaluation, Institute of Life Science, School of Medicine, University of Wales, Swansea SA2 8PP, UK.

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http://emj.bmj.com/cgi/doi/10.1136/emj.2008.065862
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http://dx.doi.org/10.1136/emj.2008.065862DOI Listing
August 2009

The relative risk of police use-of-force options: evaluating the potential for deployment of electronic weaponry.

J Clin Forensic Med 2006 Jul 25;13(5):229-41. Epub 2006 Jan 25.

Heart of England NHS Foundation Trust, 32 Rothwell Drive, Solihull B91 1HG, United Kingdom.

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http://dx.doi.org/10.1016/j.jcfm.2005.11.006DOI Listing
July 2006