Accueil › Annuaire des chercheurs › Crystel Bonnet
Crystel Bonnet
Affiliation : Centre National de la Recherche Scientifique · Inserm · Institut Pasteur · Université Paris Cité · Fondation Pour l'Audition · Institut de l'Audition
- 41Publications (affiliation française)
- 105Publications au total
- 2717Citations
- 26Indice h
Profil de recherche
Crystel Bonnet compte 41 publications référencées (2013–2026). Ses travaux paraissent principalement dans « International Journal of Pediatric Otorhinolaryngology », « PLoS ONE » et « Molecular Biology Reports ». Son article le plus cité, « FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases » (2017), a été cité 95 fois. 8 de ces publications datent des trois dernières années d’activité. Ses travaux sont cosignés avec au moins 12 chercheurs, notamment dans des établissements de Tunisie, Maroc, Royaume-Uni.
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Créer mon profil gratuit Ajouter mes publicationsDomaines de recherche
- Hearing, Cochlea, Tinnitus, Genetics
- Retinal Development and Disorders
- Congenital Ear and Nasal Anomalies
- Genetic and Kidney Cyst Diseases
- Hearing Loss and Rehabilitation
Publications (41)
- Genetic diversity of Usher syndrome in Moroccan patients
- Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder
- Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity
- Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
- Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control study
- Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
- Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
- Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome
- Novel pathogenic WHRN variant causing hearing loss in a moroccan family
- Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
- Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
- Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
- Screening of BRCA1/2 variants in Mauritanian breast cancer patients
- Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
- A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family
- Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
- Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
- A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene
- ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis
- Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
- The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions
- Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province
- A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family
- A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family
- Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome
- Diversity of the genes involved in Algerian families with hearing loss identified by whole exome sequencing
- FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
- A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
- Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
- Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.
- Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
- A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family
- Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing
- EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
- Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients
- The CD2 isoform of protocadherin‐15 is an essential component of the tip‐link complex in mature auditory hair cells
- EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness
- Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness
- Specific Aspects of Consanguinity: Some Examples from the Tunisian Population
- Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome
- A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families
Revues de publication
- International Journal of Pediatric Otorhinolaryngology × 8
- PLoS ONE × 4
- Molecular Biology Reports × 3
- Human Heredity × 3
- Frontiers in Genetics × 2
- The American Journal of Human Genetics × 2
Publications par année
- 20261
- 20252
- 20245
- 20233
- 20222
- 20211
- 20202
- 20195
- 20185
- 20172
Collaborations
Établissements partenaires : Université Pierre-et-Marie-Curie · Institut de la Vision · Collège de France · Sorbonne Université · Assistance Publique – Hôpitaux de Paris
Pays des co-auteurs : Tunisie · Maroc · Royaume-Uni
Co-auteurs
- Christine Petit
- Zied Riahi
- Jean‐Pierre Hardelin
- Malek Louha
- Fabrice Giraudet
- Sophie Boucher
- Guy Lenaers
- Christel Condroyer
- Christina Zeitz
- Amel Bahloul
- Ghita Amalou
- Souad Gherbi
Données bibliographiques issues d’OpenAlex (base ouverte).
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