Emma Burkitt Wright

Emma Burkitt Wright

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Emma Burkitt Wright

Emma Burkitt Wright

Publications by authors named "Emma Burkitt Wright"

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency.

Am J Med Genet A 2017 Aug 6;173(8):2261-2267. Epub 2017 Jun 6.

Manchester Academic Health Sciences Centre, Centre for Paediatrics and Child Health, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.38306DOI Listing
August 2017

Autism spectrum disorder and other neurobehavioural comorbidities in rare disorders of the Ras/MAPK pathway.

Dev Med Child Neurol 2017 05 4;59(5):544-549. Epub 2017 Feb 4.

Division of Neuroscience & Experimental Psychology, Faculty of Biological, Medical & Health Sciences, University of Manchester and Royal Manchester Children's Hospital and Manchester Academic Health Sciences Centre, Manchester, UK.

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http://dx.doi.org/10.1111/dmcn.13394DOI Listing
May 2017

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

J Med Genet 2013 Sep 28;50(9):606-13. Epub 2013 Jun 28.

Genetic Medicine Research Group, Faculty of Medical and Human Sciences, Institute of Human Development, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2013-101648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3756527PMC
September 2013

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet J Rare Dis 2013 May 4;8:68. Epub 2013 May 4.

Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006PMC
May 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

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.

Clin Dysmorphol 2011 Jan;20(1):15-20

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1097/MCD.0b013e32833e8f1eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000393PMC
January 2011

Doctors' communication of trust, care, and respect in breast cancer: qualitative study.

BMJ 2004 Apr 30;328(7444):864. Epub 2004 Mar 30.

Royal Liverpool University Hospital, Liverpool L7 8XP.

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http://dx.doi.org/10.1136/bmj.38046.771308.7CDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC387476PMC
April 2004