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Stéphane Blanchard
Affiliation : Institut Pasteur
- 5Publications (affiliation in France)
- 40Total publications
- 5021Citations
- 27h-index
Research profile
Stéphane Blanchard has 5 indexed publications (1994–2001). Their work appears mainly in “Nature Genetics”, “Journal of Medical Genetics” and “Human Molecular Genetics”. Their most cited article, “The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene” (1997), has been cited 426 times. 2 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Tunisia.
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Create my free profile Add my publicationsResearch areas
- Hearing, Cochlea, Tinnitus, Genetics
- Genetic and Kidney Cyst Diseases
- Retinal Development and Disorders
- Pluripotent Stem Cells Research
- Vestibular and auditory disorders
Publications (5)
- Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
- Determination of the frequency of connexin26 mutations in inherited sensorineural deafness and carrier rates in the Tunisian population using DGGE: Figure 1
- The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
- A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q
- A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene
Publication venues
- Nature Genetics × 3
- Journal of Medical Genetics × 1
- Human Molecular Genetics × 1
Publications per year
- 20011
- 20001
- 19971
- 19942
Collaborations
Partner institutions : Centre National de la Recherche Scientifique · Faculty of Medicine of Sfax · Hôpital La Rabta · Hopital Universitaire Habib Bourguiba · Hospital Fatuma Bourguiba Monastir
Co-authors’ countries : Tunisia
Co-authors
- Christine Petit
- Jean Weissenbach
- Saber Masmoudi
- Parry Guilford
- Polonca Küssel‐Andermann
- Gallia G. Levy
- Jean‐Luc Popot
- Elisabeth Verpy
- Hammadi Ayadi
- Denis Le Paslier
- Jacqueline Levilliers
- Dominique Weil
Bibliographic data from OpenAlex (open database).
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