J. Saraiva

发表

RAD51 haploinsufficiency causes congenital mirror movements in humans.

S. Meunier, M. Vidailhet, S. Klebe, 2012, American journal of human genetics.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Xavier Zanlonghi, Odile Lecompte, 2013, American journal of human genetics.

A novel nonsense variant in REEP6 is involved in a sporadic rod‐cone dystrophy case

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, Clinical genetics.

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

J. Sahel, I. Audo, S. Mohand-Saïd, 2019, International journal of molecular sciences.

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

J. Sahel, I. Audo, S. Mohand-Saïd, 2018, Clinical genetics.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

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

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

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

J. Sahel, E. Souied, I. Audo, 2015, Orphanet Journal of Rare Diseases.

CRB1 mutations in inherited retinal dystrophies

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Human mutation.

WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy

T. Léveillard, J. Sahel, S. Bhattacharya, 2020, Clinical genetics.

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

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Orphanet Journal of Rare Diseases.

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.

T. Léveillard, J. Sahel, X. Guillonneau, 2014, Human molecular genetics.

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

A. Philippi, R. Favis, J. Hager, 2009, BMC Genetics.

ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant

J. Sahel, I. Audo, S. Mohand-Saïd, 2017, Clinical genetics.

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

J. Sahel, O. Poch, C. Mayer, 2016, PloS one.

Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

J. Sahel, I. Audo, S. Mohand-Saïd, 2014, BioMed research international.

Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism

A. Philippi, J. Hager, J. Saraiva, 2005, Molecular Psychiatry.

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

T. Léveillard, J. Sahel, I. Audo, 2014, American journal of human genetics.

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

A. Philippi, R. Favis, J. Hager, 2009 .

Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta

A. Philippi, R. Favis, Nadine Cohen, 2009, BMC Genetics.

Development and Application of a Next-generation- Sequencing (ngs) Approach to Detect Known and Novel Gene Defects Underlying Retinal Diseases

T. Léveillard, I. Audo, S. Mohand-Saïd, 2022 .