List of works - Josseline Kaplan

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

scientific article published on 01 December 2003

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

scientific article

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

article

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

scientific article (publication date: December 2002)

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

scientific article published in February 2005

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

scientific article published on 14 May 2019

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

scientific article

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

scientific article published on 01 August 2018

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

scientific article published on 28 December 2016

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDalton

scientific article

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

scientific article published on 22 April 2016

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

scientific article published on January 2006

Eight previously unidentified mutations found in the OA1 ocular albinism gene

scientific article published in 2006

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

scientific article published in October 2002

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum

scientific article

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

scientific article published in September 2005

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

scientific article published on 5 November 2014

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

scientific article published on 23 October 2013

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

scientific article

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

scientific article published on 30 November 2011

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

scientific article published on September 2015

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

scientific article

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

scientific article

Leber congenital amaurosis: from darkness to spotlight

scientific article

Leber congenital amaurosis: retinol dehydrogenases are the culprit

scientific article published in December 2004

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA

scientific article published on 01 January 2006

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

scientific article

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

scientific article published in July 2009

Multimodal analysis of the progression of Best vitelliform macular dystrophy

scientific article published on 27 April 2014

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

scientific article published on 13 March 2009

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

scientific article

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

scientific article

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

scientific article published in December 2007

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

scientific article

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

scientific article published on 28 October 2014

NDP gene mutations in 14 French families with Norrie disease.

scientific article published in December 2003

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

scientific article published on 27 November 2017

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.

scientific article published on 20 May 2011

Novel B3GALTL mutation in Peters-plus Syndrome.

scientific article

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

scientific article

Pattern dystrophy in a female carrier of RP2 mutation

scientific article published on 17 February 2016

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

scientific article published on 8 August 2007

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

scientific article

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

scientific article

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

scientific article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific article

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

scientific article

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

scientific article

Reply: The expanding neurological phenotype of DNM1L-related disorders

scientific article published on 01 April 2018

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

scientific article

Retinochoroidal Anastomosis Associated With Enhanced S-cone Syndrome

scientific article published on 22 May 2017

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

scientific article

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article published in March 2010

Submicroscopic deletions at 13q32.1 cause congenital microcoria

scientific article

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

scientific article published on 13 March 2013

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

scientific article

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

scientific article published on 18 February 2016

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

article

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

scientific article published on March 2002

The ABCA4 gene in autosomal recessive cone-rod dystrophies

scientific article published in December 2002

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

scientific article

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.

scientific article published on 28 June 2011

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

scientific article published on 09 August 2006

USH1A: chronicle of a slow death

scientific article

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

scientific article

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

scientific article

rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration

scientific article

Épidémiologie de la dégénérescence maculaire liée à l’âge

scientific article published on 09 June 2009

List of works by Josseline Kaplan

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDalton

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Expanding CEP290 mutational spectrum in ciliopathies

From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features

High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Leber congenital amaurosis: from darkness to spotlight

Leber congenital amaurosis: retinol dehydrogenases are the culprit

Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Multimodal analysis of the progression of Best vitelliform macular dystrophy

Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).

Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

NDP gene mutations in 14 French families with Norrie disease.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.

Novel B3GALTL mutation in Peters-plus Syndrome.

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France

Pattern dystrophy in a female carrier of RP2 mutation

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Reply: The expanding neurological phenotype of DNM1L-related disorders

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Retinochoroidal Anastomosis Associated With Enhanced S-cone Syndrome

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Submicroscopic deletions at 13q32.1 cause congenital microcoria

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

The ABCA4 gene in autosomal recessive cone-rod dystrophies

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

USH1A: chronicle of a slow death

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration

Épidémiologie de la dégénérescence maculaire liée à l’âge