Lily Islam

Lily Islam

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Lily Islam

Lily Islam

Publications by authors named "Lily Islam"

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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

Ophthalmology 2019 Jun 14;126(6):888-907. Epub 2019 Jan 14.

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183185
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http://dx.doi.org/10.1016/j.ophtha.2018.12.050DOI Listing
June 2019

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.

Cytogenet Genome Res 2017 13;152(3):132-136. Epub 2017 Sep 13.

North West Thames Regional Genetics Service, London, UK.

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http://dx.doi.org/10.1159/000480030DOI Listing
October 2017

Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.

Hum Mutat 2015 Mar;36(3):296-300

Developmental Biology and Cancer, Birth Defects Research Centre, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/humu.22741DOI Listing
March 2015

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.

Hum Mutat 2011 Oct 8;32(10):1144-52. Epub 2011 Sep 8.

Ulverscroft Vision Research Group, UCL Institute of Child Health, London, United Kingdom.

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http://doi.wiley.com/10.1002/humu.21550
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http://dx.doi.org/10.1002/humu.21550DOI Listing
October 2011

CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

Ophthalmology 2011 Sep 20;118(9):1865-73. Epub 2011 May 20.

Ulverscroft Vision Research Group, University College London Institute of Child Health, London, and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2011.01.044DOI Listing
September 2011