Sarah J. Waller
St Mary's Hospital
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
A Novel PTCH1 Non-Canonical Splice Region Variant Associated with Gorlin Syndrome: A Case Report.
Journal: Molecular syndromology
Published: February 21, 2025
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Journal: Journal of medical genetics
Published: July 02, 2024
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Journal: Genes
Published: February 16, 2023
Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Journal: Clinical genetics
Published: October 11, 2021
Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.
Journal: European journal of medical genetics
Published: December 10, 2018
Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.
Journal: Molecular vision
Published: June 19, 2018
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
Journal: Investigative ophthalmology & visual science
Published: January 28, 2017
The role of small in-frame insertions/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity.
Journal: Orphanet journal of rare diseases
Published: May 31, 2016
Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.
Journal: Eye (London, England)
Published: October 20, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026