List of works - Lily Islam

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

scientific article published on 6 November 2013

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

scientific article published on 13 September 2017

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

scientific article published on 01 January 2012

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

scientific article published on 20 May 2011

Chromosome abnormalities and the genetics of congenital corneal opacification

scientific article

Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.

scientific article published in September 2007

Developing a community facilitator‐led participatory learning and action women's group intervention to improve infant feeding, care and dental hygiene practices in South Asian infants: NEON programme

scientific article published in 2022

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

scientific article published on 8 September 2011

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

scientific article

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

scientific article published in 2022

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

scientific article

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

scientific article

Nonbacterial osteitis: a clinical, histopathological, and imaging study with a proposal for protocol-based management of patients with this diagnosis.

scientific article published in September 2009

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

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

scientific article published on 14 January 2019

List of works by Lily Islam

A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency

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

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

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

Chromosome abnormalities and the genetics of congenital corneal opacification

Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.

Developing a community facilitator‐led participatory learning and action women's group intervention to improve infant feeding, care and dental hygiene practices in South Asian infants: NEON programme

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

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

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

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Nonbacterial osteitis: a clinical, histopathological, and imaging study with a proposal for protocol-based management of patients with this diagnosis.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

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