List of works - Frances Lucy Raymond

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

scientific article published in February 2018

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

scientific article published on 26 October 2017

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

article

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

scientific article published on 21 January 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

scientific article published on 5 January 2017

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

scientific article published on 28 December 2016

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

scientific article

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

scientific article published on 18 August 2021

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

scientific article published in November 2016

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

scientific article published on 07 November 2015

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

scientific article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

scientific article published on June 2017

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

scientific article published on 28 November 2016

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

article

List of works by Frances Lucy Raymond

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Delineating the expanding phenotype associated with SCAPER gene mutation

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children