Hélène Dollfus

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

  Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  715
  Citations

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

  Alison J Ross;Helen May-Simera;Erica R Eichers;Masatake Kai

  682
  Citations

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

  Perrault I;Rozet Jm;Calvas P;Gerber S

  534
  Citations

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

  Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy

  465
  Citations

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

  Carmen C Leitch;Norann A Zaghloul;Erica E Davis;Corinne Stoetzel

  456
  Citations

• Mutation spectrum and splicing variants in the OPA1 gene.

  Cécile Delettre;Jean-Michel Griffoin;Josseline Kaplan;Hélène Dollfus

  455
  Citations

• Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

  Moumita Chaki;Rannar Airik;Amiya K. Ghosh;Rachel H. Giles

  431
  Citations

• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

  404
  Citations

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

  Edgar A Otto;Toby W Hurd;Rannar Airik;Moumita Chaki

  391
  Citations

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

  Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  340
  Citations

• AnnotSV: an integrated tool for structural variations annotation

  Véronique Geoffroy;Yvan Herenger;Arnaud Kress;Corinne Stoetzel

  325
  Citations

• ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

  Nathalie Dagoneau;Catherine Benoist-Lasselin;Céline Huber;Laurence Faivre

  320
  Citations

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

  Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber

  313
  Citations

• CHARGE syndrome: Report of 47 cases and review

  A.L. Tellier;V. Cormier-Daire;V. Abadie;J. Amiel

  313
  Citations

• Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

  Corinne Stoetzel;Jean Muller;Virginie Laurier;Erica E. Davis

  285
  Citations

• SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

  Sébastien Albert;Hélène Blons;Laurence Jonard;Delphine Feldmann

  281
  Citations

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

  Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

  281
  Citations

• CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

  Susanne Kohl;Balazs Varsanyi;Balazs Varsanyi;Gesine Abadin Antunes;Britta Baumann

  268
  Citations

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

  A Ross;H May-Simera;E Eichers;M Kai

  104
  Citations

• Épidémiologie de la dégénérescence maculaire liée à l'âge

  N. Leveziel;C. Delcourt;J. Zerbib;H. Dollfus

  19
  Citations