Deborah Morrogh

Deborah Morrogh

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Deborah Morrogh

Deborah Morrogh

Publications by authors named "Deborah Morrogh"

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20Publications

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Copy number abnormalities in new or progressive 'neurocutaneous melanosis' confirm it to be primary CNS melanoma.

Acta Neuropathol 2017 02 8;133(2):329-331. Epub 2016 Dec 8.

Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00401-016-1651-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5250663PMC
February 2017

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J Med Genet 2016 05 18;53(5):310-7. Epub 2016 Mar 18.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK Genetics and Genomic Medicine Unit, University College London Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/jmedgenet-2015-103263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862068PMC
May 2016

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.

Eur J Hum Genet 2015 May 13;23(5):610-5. Epub 2014 Aug 13.

1] North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK [2] Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402637PMC
May 2015

Microarray Technology for the Diagnosis of Fetal Chromosomal Aberrations: Which Platform Should We Use?

J Clin Med 2014 Jun 20;3(2):663-78. Epub 2014 Jun 20.

UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

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http://www.mdpi.com/2077-0383/3/2/663
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http://dx.doi.org/10.3390/jcm3020663DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449692PMC
June 2014

Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization.

Prenat Diagn 2014 Jan 14;34(1):98-101. Epub 2013 Nov 14.

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352329PMC
January 2014

What is array CGH?

Arch Dis Child Educ Pract Ed 2013 Aug 30;98(4):134-5. Epub 2013 May 30.

Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK.

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http://dx.doi.org/10.1136/archdischild-2013-303962DOI Listing
August 2013

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.

Pediatr Nephrol 2011 Aug 20;26(8):1331-4. Epub 2011 May 20.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, WC1N 3JH, UK.

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http://dx.doi.org/10.1007/s00467-011-1884-zDOI Listing
August 2011