List of works - Saddek Mohand-Saïd

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

scientific article

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

scientific article published on 27 July 2016

An unusual retinal phenotype associated with a novel mutation in RHO.

scientific article

CRB1 mutations in inherited retinal dystrophies

scientific article published on 27 December 2011

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

scientific article

Differential proteomic analysis of the mouse retina: the induction of crystallin proteins by retinal degeneration in the rd1 mouse

scientific article

EYS is a major gene for rod-cone dystrophies in France.

scientific article

Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy

scientific article

Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa

scientific article

Functional rescue of cone photoreceptors in retinitis pigmentosa

scientific article published on July 2013

Genotyping microarray for CSNB-associated genes.

scientific article

Identification and characterization of rod-derived cone viability factor

scientific article

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

scientific article

Increased functional connectivity between language and visually deprived areas in late and partial blindness

scientific article published on 30 April 2016

Inherited retinal degenerations: therapeutic prospects

scientific article published on May 2004

La transplantation de photorécepteurs immatures

scientific article published on 01 March 2007

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

scientific article

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

scientific article

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

scientific article

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

scientific article

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

scientific article published on December 2011

Reorganization of early visual cortex functional connectivity following selective peripheral and central visual loss

scientific article published on 24 February 2017

Rod-derived cone viability factor : un espoir de thérapie des dégénérescences rétiniennes ?

scientific article published on 01 January 2005

Seven new loci associated with age-related macular degeneration

scientific article

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

scientific article

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

scientific article

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

scientific article

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

scientific article

The search for rod-dependent cone viability factors, secreted factors promoting cone viability.

scientific article published in January 2004

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa

scientific article

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

scientific article published on 04 November 2018

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

scientific article published in July 2012

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

scientific article

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

scientific article

℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa

scientific article

List of works by Saddek Mohand-Saïd

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

An unusual retinal phenotype associated with a novel mutation in RHO.

CRB1 mutations in inherited retinal dystrophies

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Differential proteomic analysis of the mouse retina: the induction of crystallin proteins by retinal degeneration in the rd1 mouse

EYS is a major gene for rod-cone dystrophies in France.

Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy

Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa

Functional rescue of cone photoreceptors in retinitis pigmentosa

Genotyping microarray for CSNB-associated genes.

Identification and characterization of rod-derived cone viability factor

Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy

Increased functional connectivity between language and visually deprived areas in late and partial blindness

Inherited retinal degenerations: therapeutic prospects

La transplantation de photorécepteurs immatures

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort.

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation

Reorganization of early visual cortex functional connectivity following selective peripheral and central visual loss

Rod-derived cone viability factor : un espoir de thérapie des dégénérescences rétiniennes ?

Seven new loci associated with age-related macular degeneration

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

The search for rod-dependent cone viability factors, secreted factors promoting cone viability.

Threshold levels of visual field and acuity loss related to significant decreases in the quality of life and emotional states of patients with retinitis pigmentosa

Whole exome sequencing resolves complex phenotype and identifies CC2D2A mutations underlying non-syndromic rod-cone dystrophy

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

℮-conome: an automated tissue counting platform of cone photoreceptors for rodent models of retinitis pigmentosa