Hélène Dollfus

country of citizenship: France

languages spoken, written or signed: French

occupation: researcher, laboratory director

award received: Officer of the National Order of Merit

Hélène Dollfus est une médecin et chercheuse française travaillant pour l'Inserm, directrice du laboratoire de génétique médicale de l’université de Strasbourg. Elle est récipiendaire du prix Recherche 2014 de l'Inserm. Source: Wikipedia (fr)

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Articles 97

Date

Title

Authors

2022-08-15

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

Hélène Dollfus, Alexis Arzimanoglou
2021-12-01

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

Hélène Dollfus, Jean Muller
2021-07-01

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

Hélène Dollfus, Jean Muller
2020-08-21

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

Jean Muller, Hélène Dollfus
2020-10-12

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

Irwin Jungreis, Jean Muller, Jill A Rosenfeld, Michael E. Talkowski, Manolis Kellis, Erica E Davis, Shamil R Sunyaev, Nicholas Katsanis, Hélène Dollfus
2020-11-09

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

Joakim Klar, Jean Muller, Jean-Louis Mandel, Boris Keren, Christel Depienne, Elsa Nourisson, Corinne Stoetzel, Sophie Scheidecker, Jean-François Deleuze, Michèle Mathieu-Dramard, Sylvie Odent, Hélène Dollfus
2020-08-25

Reproduction Function in Male Patients with Bardet Biedl Syndrome

Jean Muller, Hélène Dollfus
2020-05-03

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

Jean Muller, Hanitra Randrianaivo, Hélène Dollfus, Marie-Line Jacquemont
2020-06-05

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

Masanari Takamiya, Florian Sandron, Sylvie Friant, Elke Krüger, Jean Muller, Hélène Dollfus
2019-01-30

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Jean Muller, Hélène Dollfus, Elise Schaefer, Jamal Ghoumid, Muriel Holder-Espinasse, Caroline Marks-Delesalle, Clarisse Delvallée, Corinne Stoetzel, Véronique Geoffroy
2019-01-01

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

Jean Muller, Agnes Bloch-Zupan, Hélène Dollfus
2019-10-17

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

Alejandro Estrada-Cuzcano, Amélie Piton, Jean Muller, Hélène Dollfus
2019-03-01

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

Tania Attié-Bitach, Florence Petit, Jean Muller, Brigitte Gilbert-Dussardier, Hélène Dollfus, Elise Schaefer
2019-07-11

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

Daniel P Farrell, Jean Muller, Evgeny Nudler, Ulrich Stelzl, Hélène Dollfus
2019-06-18

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

Jean Muller, Sylvie Friant, Hélène Dollfus
2019-08-15

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

Jean Muller, S Rangasamy, Dominique Weil, Jean-Louis Mandel, Amélie Piton, Jean-François Deleuze, Jamel Chelly, Elise Schaefer, Hélène Dollfus
2018-04-14

AnnotSV: an integrated tool for structural variations annotation

Jean Muller, Amélie Piton, Hélène Dollfus
2018-05-08

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

Sylvie Friant, Jean Muller, Hélène Dollfus, Elise Schaefer
2018-09-26

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

Jean Muller, Agnes Bloch-Zupan, Hélène Dollfus
2018-07-05

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

Jean Muller, Manolis Kellis, Hélène Dollfus
2017-03-19

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

Hélène Dollfus
2016-11-24

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

Johan-Owen De Craene, Isabelle Perrault, Sylvie Friant, Hélène Dollfus
2016-03-02

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

Agnes Bloch-Zupan, Philippe Gorry, Hélène Dollfus
2016-02-18

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

Josseline Kaplan, Heather Etchevers, Didier Lacombe, Hélène Dollfus, Jean-Louis Dufier
2016-07-26

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

Agnes Bloch-Zupan, Philippe Gorry, Hélène Dollfus
2016-01-14

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

Jean-Louis Mandel, Jean Muller, Didier Lacombe, Corinne Stoetzel, Sophie Scheidecker, Claire Redin, Elise Schaefer, Hélène Dollfus
2015-03-26

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

Vincent Plagnol, Pia Ostergaard, Annick Toutain, Sandrine Passemard, Alain Verloes, Uwe Strähle, Séverine Drunat, Hélène Dollfus
2015-02-10

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

Jean Muller, Eveline Boudin, Wim Van Hul, Débora R Bertola, Geert Mortier, Agnes Bloch-Zupan, Hélène Dollfus
2015-05-18

Alström Syndrome: Mutation Spectrum of ALMS1.

Jean Muller, Stephen F Kingsmore, Roberto Vettor, Hélène Dollfus
2015-08-13

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

Bruno Moulin, Michel Roux, Hélène Dollfus
2015-10-26

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

Marie Paschaki, Maryline Minoux, Sophie Jung, Annick Toutain, Benjamin Fournier, Muriel de la Dure Molla, Ariane Berdal, Agnes Bloch-Zupan, Hélène Dollfus
2015-07-15

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

Anne de Saint-Martin, Elise Schaefer, Hélène Dollfus

Human - wd:Q28354315

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