Claire L. Hardcastle
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.
Journal: European journal of human genetics : EJHG
Published: January 11, 2024
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.
Journal: Genes
Published: February 16, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Journal: Journal of medical genetics
Published: May 07, 2022
Embryonal sarcoma of the liver in a girl with Cockayne syndrome.
Journal: Clinical genetics
Published: October 11, 2021
Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Journal: The Journal of molecular diagnostics : JMD
Published: September 09, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Journal: Scientific reports
Published: March 09, 2021
Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 23, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 23, 2019
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Journal: European journal of human genetics : EJHG
Published: May 30, 2019
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Journal: Ophthalmology
Published: December 15, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026