Deborah M. Morrogh

Great Ormond Street Hospital For Children NHS Foundation Trust
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 19 publications

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Inherited duplications of PPP2R3B predispose to nevi and melanoma via a C21orf91-driven proliferative phenotype.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 13, 2020

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.

Disruption of FOXF2 as a Likely Cause of Absent Uvula in an Egyptian Family.

Journal: Journal of dental research
Published: March 28, 2019

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.

Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.

Journal: Blood
Published: November 08, 2018

Diagnostic implications of genetic copy number variation in epilepsy plus.

Diagnostic implications of genetic copy number variation in epilepsy plus.

Journal: Epilepsia
Published: May 18, 2018

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: January 30, 2018

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy.

Journal: Molecular syndromology
Published: July 07, 2017

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Journal: Nature genetics
Published: May 27, 2017

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly.

An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly.

Journal: Case reports in genetics
Published: May 19, 2017

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.

Journal: Orphanet journal of rare diseases
Published: November 16, 2016

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

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

Journal: Acta neuropathologica
Published: October 14, 2016

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Journal: Nature genetics
Published: April 19, 2016

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Journal: European journal of human genetics : EJHG
Published: February 08, 2016
Showing 1-12 of 19

Last Updated: 09/26/2026