Lily Islam

Detection of β-Catenin Mutations in Paraffin-embedded Sporadic Desmoid-type Fibromatosis by Mutation-specific Restriction Enzyme Digestion (MSRED): an Ancillary Diagnostic Tool

Maria Fernanda Amary, Patrick Pauwels, Els V. Meulemans et al. · The American Journal of Surgical Pathology · 2007 · 106 citations

Fibrosis, Molecular Diagnostic Techniques, Somatic Variant +15

The Oculome Panel Test

Aara Patel, Jane Hayward, Vijay Tailor et al. · Ophthalmology · 2019 · 105 citations

Reliability, Engineering, Measurement +6

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8

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

Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson et al. · PLoS ONE · 2016 · 83 citations · Full text

Biology, Genetic Analysis, Intragenic Pax6 Mutations +15

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Martijn Kranendijk, Eduard A. Struys, K. Michael Gibson et al. · Human Mutation · 2009 · 73 citations

Urology, Genetic Disorder, Medicine +13