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Publications by Amanda Churchill

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

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Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

CNOT3 Is a Modifier of PRPF31 Mutations in Retinitis Pigmentosa With Incomplete Penetrance

Molecular Biology

Cancer Research

English

Ophthalmic Features of Retinitis Pigmentosa in Cohen Syndrome Caused by Pathogenic Variants in the VPS 13B Gene

Acta Ophthalmologica

English

Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

Archives of Ophthalmology

English

Mutant Prpf31 Causes Pre-mRNA Splicing Defects and Rod Photoreceptor Cell Degeneration in a Zebrafish Model for Retinitis Pigmentosa

Molecular Neurodegeneration

Molecular Neuroscience

Molecular Biology

English

A Potential of Novel Therapeutic Approach by Heat Shock Protein 70 Expression in Retinitis Pigmentosa

Folia Pharmacologica Japonica

English

Trypanothione Reductase: A Target Protein for a Combined in Vitro and in Silico Screening Approach

PLoS Neglected Tropical Diseases

Infectious Diseases

Occupational Health

English

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

American Journal of Human Genetics

English

Copper Metabolism in Retinitis Pigmentosa.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English