Claire S. Turner

Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS.

Journal: Circulation. Genomic and precision medicine
Published: March 25, 2025

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2025

Utility of a Modified Penlight-Cover Test for Neurolocalization of Lesions Based on Visual Suppression of Nystagmus in Dogs and Cats With Vestibular Disease.

Utility of a Modified Penlight-Cover Test for Neurolocalization of Lesions Based on Visual Suppression of Nystagmus in Dogs and Cats With Vestibular Disease.

Journal: Journal of veterinary internal medicine
Published: January 10, 2025

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG
Published: January 24, 2024

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Journal: NPJ genomic medicine
Published: December 01, 2023

Multi-Attribute Monitoring Method for Process Development of Engineered Antibody for Site-Specific Conjugation.

Multi-Attribute Monitoring Method for Process Development of Engineered Antibody for Site-Specific Conjugation.

Journal: Journal of the American Society for Mass Spectrometry
Published: June 02, 2023

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies.

Journal: Nature medicine
Published: October 21, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 08, 2022

Urinary Volatile Organic Compound Testing in Fast-Track Patients with Suspected Colorectal Cancer.

Urinary Volatile Organic Compound Testing in Fast-Track Patients with Suspected Colorectal Cancer.

Journal: Cancers
Published: March 10, 2022

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 28, 2021

Monitoring type 2 diabetes from volatile faecal metabolome in Cushing's syndrome and single Afmid mouse models via a longitudinal study.

Monitoring type 2 diabetes from volatile faecal metabolome in Cushing's syndrome and single Afmid mouse models via a longitudinal study.

Journal: Scientific reports
Published: June 13, 2019

Response to Prakash et al.

Response to Prakash et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 28, 2018
Showing 1-12 of 32

Last Updated: 09/26/2026