List of works - Hélène Dollfus

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

scientific article published on 09 November 2020

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

scientific article

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

scientific article (publication date: December 1992)

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

scientific article

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

scientific article

A novelTFAP2Amutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype ⬇️

scientific article published on 05 July 2011

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

scientific article published on 26 October 2015

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

scientific article

Alström Syndrome: Mutation Spectrum of ALMS1.

scientific article published on 18 May 2015

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

scientific article published on 01 July 2021

AnnotSV: an integrated tool for structural variations annotation

scientific article published in 2018

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

scientific article published on 21 August 2020

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

scientific article

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scientific article

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

scientific article

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

scientific article published on 01 March 2019

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

scientific article

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

scientific article

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

article published in 2011

Bilateral iridoretinal colobomas in a child with a Noonan phenotype ⬇️

scientific article published on 01 October 2001

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

CHARGE syndrome: report of 47 cases and review

scientific article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

scientific article (publication date: December 2003)

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

scientific article published on 01 December 2021

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

scientific article

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

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

scholarly article published in Nature Genetics

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

scientific article published on 26 July 2016

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

scientific article

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

scientific article published on 2 March 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

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

scientific journal article

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

scientific article

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

scientific article

Eight previously unidentified mutations found in the OA1 ocular albinism gene

scientific article published in 2006

Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry) ⬇️

scientific article published on August 24, 2012

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

scholarly article

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

article

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

scientific article published on 12 October 2020

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

scientific article published on 17 April 2012

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

scientific article published on 11 September 2013

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early

scientific article published on 19 March 2017

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

scientific article published on 26 September 2018

Gillespie syndrome phenotype withat(x;11)(p22.32;p12) de novo translocation ⬇️

scientific article published on March 1, 1998

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

scientific article published on 03 May 2020

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

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

scientific article

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

scientific article (publication date: April 2008)

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

scientific article

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

scientific article

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

scientific article published on 14 January 2016

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

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

scientific article published on 15 July 2015

Long-term Results of Trabeculectomy for Congenital Glaucoma

scientific article published on 01 July 1998

Mapping the eye diseases

scientific article published on June 1, 1992

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

scientific article published on 29 October 2010

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

scientific article

Mutation spectrum and splicing variants in the OPA1 gene

scientific article (publication date: December 2001)

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

scientific article

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

scientific article published on 18 June 2019

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

scientific article

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

scientific article

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

scientific article published on 10 February 2015

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

scientific article

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

scientific article published on 05 December 2014

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

scientific article published on 17 October 2019

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

scientific article published on October 4, 2012

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

scientific article

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability

scientific journal article

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

scientific article

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

scientific article published on 05 June 2020

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement

scientific article published on 01 January 2019

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

scientific article published on 15 August 2019

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

Recurrent insertional polydactyly and situs inversus in a Bardet-Biedl syndrome family

Reproduction Function in Male Patients with Bardet Biedl Syndrome

scientific article published on 25 August 2020

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

scientific article

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies ⬇️

scientific article published on 05 April 2011

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

scientific article

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

scientific article

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

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

Sporadic and familial blepharophimosis -ptosis-epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

scientific article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

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

The European Reference Networks for rare and complex diseases respond to the Ukrainian crisis

scientific article published in 2022

The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach

scientific article published on 11 July 2019

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males

scientific article

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

scientific article

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

scientific article published on 19 March 2015

Unusual scotomas after transsphenoidal surgery of a pituitary macroadenoma

scientific article published on 01 September 1997

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

scientific article

Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

scientific article

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

scientific article

List of works by Hélène Dollfus

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

A novelTFAP2Amutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype ⬇️

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

Alström Syndrome: Mutation Spectrum of ALMS1.

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

AnnotSV: an integrated tool for structural variations annotation

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort

Bardet-Biedl syndrome: a unique family for a major gene (BBS10)

Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

Bilateral iridoretinal colobomas in a child with a Noonan phenotype ⬇️

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

CHARGE syndrome: report of 47 cases and review

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

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

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

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

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry) ⬇️

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

Gillespie syndrome phenotype withat(x;11)(p22.32;p12) de novo translocation ⬇️

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

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

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome

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

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Long-term Results of Trabeculectomy for Congenital Glaucoma

Mapping the eye diseases

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

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

Mutation spectrum and splicing variants in the OPA1 gene

Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

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

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment ⬇️

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement