Publications by authors named "Lily Islam"

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Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
J Robert Harkness, John H McDermott, Shea Marsden, Peter Jamieson, Kay A Metcalfe, Lily Islam

Lancet Neurol· August 2025

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'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.
Michelle Peter, Rashida Baptiste, Rachael Buabeng, Lily Islam, Jane Fisher

Prenat Diagn· June 2025

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South Asian patient experiences of professional interpreting service provision in general practice in England: a qualitative interview study.
Graham Hieke, Georgia B Black, Judith Yargawa, Cecilia Vindrola-Padros, Paramjit Gill, Lily Islam

Int J Equity Health· April 2025

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Nurture Early for Optimal Nutrition (NEON) participatory learning and action women's groups to improve infant feeding and practices in South Asian infants: pilot randomised trial study protocol.
Logan Manikam, Shereen Allaham, Priyanka Patil, Maryan Naman, Zhen Ling Ong, Lily Islam

BMJ Open· November 2023

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Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK.
Helen McDermott, Jennifer Simmonds, Manigandan Thyagarajan, , Lily Islam

Eur J Med Genet· August 2023

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Lily Islam

Sci Adv· March 2023

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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Lily Islam

Am J Med Genet A· December 2022

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Lily Islam

PLoS One· November 2022

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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.
Logan Manikam, Shereen Allaham, Isabel-Catherine Demel, Ummi Aisha Bello, Maryan Naman, Lily Islam

Health Expect· October 2022

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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Aara Patel, Jane D Hayward, Vijay Tailor, Rodney Nyanhete, Helena Ahlfors, Lily Islam

Ophthalmology· June 2019

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Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene.
Athina Ververi, Lily Islam, Beverley Bewes, Louise Busby, Caroline Sullivan

Cytogenet Genome Res· October 2017

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Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Lily Islam

PLoS One· February 2017

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Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.
Lily Islam, Daniel Kelberman, Laura Williamson, Nicola Lewis, Maria Bitner Glindzicz

Hum Mutat· March 2015

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Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
Daniel Kelberman, Lily Islam, Jörn Lakowski, Chiara Bacchelli, Estelle Chanudet

Hum Mol Genet· May 2014

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A novel heterozygous SOX2 mutation causing congenital bilateral anophthalmia, hypogonadotropic hypogonadism and growth hormone deficiency.
Annamaria Macchiaroli, Daniel Kelberman, Renata Simona Auriemma, Suzanne Drury, Lily Islam

Gene· January 2014

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CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
Julie Vogt, Neil V Morgan, Pauline Rehal, Laurence Faivre, Louise A Brueton, Lily Islam

J Med Genet· January 2012

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Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.
Daniel Kelberman, Lily Islam, Susan E Holder, Thomas S Jacques, Patrick Calvas

Hum Mutat· October 2011

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CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.
Daniel Kelberman, Lily Islam, Thomas S Jacques, Isabelle Russell-Eggitt, Maria Bitner-Glindzicz

Ophthalmology· September 2011

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Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Martijn Kranendijk, Eduard A Struys, K Michael Gibson, Wjera V Wickenhagen, Jose E Abdenur, Lily Islam

Hum Mutat· March 2010

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Nonbacterial osteitis: a clinical, histopathological, and imaging study with a proposal for protocol-based management of patients with this diagnosis.
Panagiotis D Gikas, Lily Islam, William Aston, Roberto Tirabosco, Asif Saifuddin

J Orthop Sci· September 2009

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Detection of beta-catenin mutations in paraffin-embedded sporadic desmoid-type fibromatosis by mutation-specific restriction enzyme digestion (MSRED): an ancillary diagnostic tool.
Maria Fernanda C Amary, Patrick Pauwels, Els Meulemans, Guido M Roemen, Lily Islam

Am J Surg Pathol· September 2007

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