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Publications by Gabrielle Wheway

The SYSCILIA Gold Standard (SCGSv1) of Known Ciliary Components and Its Applications Within a Systems Biology Consortium

English

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

Frontiers in Genetics

Molecular Medicine

English

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Frontiers in Genetics

Molecular Medicine

English

A Combined in Silico, in Vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa

Frontiers in Genetics

Molecular Medicine

English

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

Frontiers in Pediatrics

English

High-Throughput PRPF31 Variant Characterisation Pipeline Consistent With ACMG/AMP Clinical Variant Interpretation Guidelines

English