Vivienne McConnell

Vivienne McConnell

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Vivienne McConnell

Vivienne McConnell

Publications by authors named "Vivienne McConnell"

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27Publications

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Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?

Gene 2019 Feb 25;685:50-54. Epub 2018 Oct 25.

Academic Unit of Child Health, Department of Oncology & Metabolism, University of Sheffield, UK; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03781119183111
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http://dx.doi.org/10.1016/j.gene.2018.10.067DOI Listing
February 2019

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

J Med Genet 2016 Mar 5;53(3):152-62. Epub 2015 Nov 5.

INSIGNEO Institute for in silico medicine, Sheffield University, Sheffield, UK Sheffield Institute for Translational Neuroscience, Sheffield University, Sheffield, UK Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789813PMC
March 2016

Colorectal Cancer Risk Following Adenoma Removal: A Large Prospective Population-Based Cohort Study.

Cancer Epidemiol Biomarkers Prev 2015 Sep 16;24(9):1373-80. Epub 2015 Jun 16.

Cancer Epidemiology and Health Services Research Group, Centre for Public Health, Queen's University Belfast, Belfast, Northern Ireland.

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http://dx.doi.org/10.1158/1055-9965.EPI-15-0085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560642PMC
September 2015

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

Ophthalmic Genet 2015 Mar 10;36(1):86-8. Epub 2013 Sep 10.

Department of Ophthalmology, Royal Victoria Hospital, Belfast , Northern Ireland , UK .

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http://dx.doi.org/10.3109/13816810.2013.833634DOI Listing
March 2015

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA).

BMC Med Genet 2013 Apr 26;14:48. Epub 2013 Apr 26.

East Anglian Regional Genetics Laboratory, Addenbrooke's Hospital, Cambridge University Hospitals NHS Trust, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2350-14-48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652776PMC
April 2013

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Am J Med Genet A 2012 May 11;158A(5):1102-10. Epub 2012 Apr 11.

Genetic Medicine, Manchester Academic Health Science Centre, 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.35296DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495255PMC
May 2012

Phenotypic variability in a three-generation Northern Irish family with Sotos syndrome.

Clin Dysmorphol 2011 Oct;20(4):175-81

Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health and Social Care Trust, Belfast, Northern Ireland.

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http://dx.doi.org/10.1097/MCD.0b013e328349182dDOI Listing
October 2011

The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.

Ulster Med J 2010 Sep;79(3):114-8

Department of Clinical Genetics, Belfast HSC Trust, Belfast, BT9 7AB, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284715PMC
September 2010

A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patients.

Mol Vis 2004 Sep 24;10:682-7. Epub 2004 Sep 24.

Department of Ophthalmology and Vision Science, Queen's University of Belfast, Belfast, Northern Ireland.

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September 2004