Crystel Bonnet

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Crystel Bonnet

Née le 10 juillet 1973

Mariée, 2 enfants

CURSUS UNIVERSITAIRE ET PARCOURS PROFESSIONNEL

¨ Depuis Janv 2020 : Ingénieur de recherche confirmé, Institut Pasteur, Institut de l’Audition

Sujet: Presbyacousie: identifier les gènes responsables de surdité liée à l'âge.

¨ 2010-2019 : Ingénieur de recherche Unité de Génétique et Physiologie de l’Audition

INSERM UMRS1120, Institut Pasteur et Institut de la Vision.

Sujet: Identification des mutations causales chez des patients présentant une surdité isolée et/ou syndromique.

¨ 2008-2010 : Stage post-doctoral (Paris VI, Hôpital Trousseau). Direction : F. Denoyelle.

Laboratoire Unité de Génétique des déficits sensoriels INSERM UMRS587.

Sujet : Séquençage des 9 gènes Usher connus : divergence génotype/phénotype et recherche de digénisme

¨ 2004-2008 : Stage post-doctoral (Paris VI, Hôpital St-Antoine). Direction : M. Corral-Debrinski. Laboratoire de Physiopathologie Cellulaire et Moléculaire de la Rétine. INSERM U592.

Sujet : Localisation des ARNm à la surface mitochondriale : outil de diagnostic et de traite- ment des dégénérescences rétiniennes

¨ 2002-2004 : Stage post-doctoral (Paris XI). Direction : V. Berteaux-Lecellier. Laboratoire Reproduction Sexuée, Traduction et Différenciation. Institut de Génétique et Microbiologie UMR 8621.

Sujet : Rôle du peroxysome dans la différenciation cellulaire chez le champignon filamenteux Podospora anserina

¨ 1998-2001 : Thèse de l'Université Pierre et Marie Curie (Paris VI). Direction : P. Denoulet Laboratoire de Biochimie Cellulaire, UMR 7098, Université Paris VI

Sujet : Etude des interactions entre les tubulines et leurs protéines associées : rôle de la polyglutamylation dans la régulation de ces interactions (soutenue le 21 décembre 2001)

¨ 1997-1998 : 3ème année du magistère de Biologie-Biochimie (ENS Ulm)

DEA "Structure, Fonction et Ingénierie des Protéines" (Paris VI). Direction : P. Denoulet, Laboratoire de Biochimie Cellulaire, UPR 9065, Collège de France

Sujet : Purification de MAP1A murine : régulation de sa liaison à la tubuline par la polygluta- mylation

Brevet

Importation of mitochondrial protein by an enhanced allotopic approach. M. Corral-Debrinski, J.-A. Sahel, V. Kaltimbacher, C. Bonnet N°: PCT/EP 2006/005323. Date de Dépôt : 05/06/08.

Prix : Obtention de la bourse de la Fédération des Aveugles et Handicapés Visuels de France, 2005.

Collaboration

- Collaboration Hubert Curien Tassili- Akila Zenati- Laboratoire of Biochimie génétique – Université d'Alger- Faculté de Médecine ; CHU de Bab-El-Oued- Bd Said Touati - Alger

- Collaboration Institut Pasteur de Tunis- Sonia Abdelhak- Laboratoire de Génomique Biomédicale et Oncogénétique-Tunis

- Treatrush Consortium

Encadrement

Encadrement de M1, M2, Doctorant, Post-Doctorant, Ingénieur

- Sophie Boucher, M2

- Zied Riahi, Doctorant

- Samia Abdi, Doctorante

- Asma Behlouli, Doctorante

- Mouna Hadrami, Doctorante

- Malika Dahmani, Doctorante

- Sonia Talbi, Doctorante

Publications

Publications

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Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder

Amal Bouzid , Malek Belcadhi , Amal Souissi , Meryam Chelly , Fakher Frikha et al.
Scientific Reports, 2025, 15 (1), pp.367. ⟨10.1038/s41598-024-83115-x⟩
Article dans une revue pasteur-05002930 v1
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Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Rahma Mkaouar , Zied Riahi , Jihene Marrakchi , Nessrine Mezzi , Lilia Romdhane et al.
Frontiers in Genetics, 2024, 15, pp.1437233. ⟨10.3389/fgene.2024.1437233⟩
Article dans une revue pasteur-04691609 v1
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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health

Rahma Mkaouar , Zied Riahi , Jihene Marrakchi , Nessrine Mezzi , Lilia Romdhane et al.
Frontiers in Genetics, 2024, 15, pp.1384094. ⟨10.3389/fgene.2024.1384094⟩
Article dans une revue pasteur-04691608 v1

Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families

Assia Idyahia , Salaheddine Redouan , Ghita Amalou , Hicham Charoute , Houda Harmak et al.
Molecular Biology Reports, 2024, 51 (1), pp.850. ⟨10.1007/s11033-024-09740-x⟩
Article dans une revue pasteur-04691611 v1
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Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome

Samia Abdi , Mohamed Makrelouf , Issa Nazim Rous , Kheireddine Ounnoughi , Akila Zenati et al.
Gene Reports, 2024, 36, pp.101954. ⟨10.1016/j.genrep.2024.101954⟩
Article dans une revue pasteur-04691606 v1
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Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment

Malak Salame , Crystel Bonnet , Amrit Singh-Estivalet , Selma Mohamed Brahim , Solene Roux et al.
Journal of Applied Genetics, In press, ⟨10.1007/s13353-024-00903-x⟩
Article dans une revue pasteur-04691612 v1
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Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control study

Tetou Soumbara , Crystel Bonnet , Cheikh Tijani Hamed , Fatimetou Veten , Mohamed Hemeyine et al.
BMC Infectious Diseases, 2024, 24 (1), pp.616. ⟨10.1186/s12879-024-09503-w⟩
Article dans une revue pasteur-04691607 v1
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Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies

Philippe Jean , Fabienne Wong Jun Tai , Amrit Singh-Estivalet , Andrea Lelli , Cyril Scandola et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (26), pp.e2221744120. ⟨10.1073/pnas.2221744120⟩
Article dans une revue pasteur-04309088 v1
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Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness

Malak Salame , Crystel Bonnet , Ely Cheikh Mohamed Moctar , Selma Mohamed Brahim , Abdallahi Dedy et al.
European Archives of Oto-Rhino-Laryngology, 2023, 280, pp.4057-4063. ⟨10.1007/s00405-023-07907-z⟩
Article dans une revue pasteur-04053511 v1
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Deafness: from genetic architecture to gene therapy

Christine Petit , Crystel Bonnet , Saaïd Safieddine
Nature Reviews Genetics, 2023, 24, pp.665-686. ⟨10.1038/s41576-023-00597-7⟩
Article dans une revue pasteur-04097478 v1

Novel pathogenic WHRN variant causing hearing loss in a moroccan family

Imane Aitraise , Ghita Amalou , Salaheddine Redouane , Hicham Charoute , Khalid Snoussi et al.
Molecular Biology Reports, 2023, ⟨10.1007/s11033-023-08901-8⟩
Article dans une revue hal-04281535 v1

Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families

Imane Aitraise , Ghita Amalou , Amina Bakhchane , Amale Bousfiha , Houria Abdelghaffar et al.
Biochemical Genetics, 2023, 62, pp.1914-1924. ⟨10.1007/s10528-023-10515-5⟩
Article dans une revue pasteur-04235312 v1

Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco

Imane Aitraise , Ghita Amalou , Amale Bousfiha , Hicham Charoute , Hassan Rouba et al.
Molecular Biology Reports, 2022, 49 (5), pp.3949-3954. ⟨10.1007/s11033-022-07245-z⟩
Article dans une revue pasteur-03985530 v1
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Retinal Phenotype of Patients with <i>CLRN1</i>-Associated Usher 3A Syndrome in French Light4Deaf Cohort

Vasily M Smirnov , Marco Nassisi , Saddek Mohand-Saïd , Crystel Bonnet , Anne Aubois et al.
Investigative Ophthalmology & Visual Science, 2022, 63 (4), pp.25. ⟨10.1167/iovs.63.4.25⟩
Article dans une revue hal-03954493 v1
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Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Selma Mohamed Brahim , Ekht Elbenina Zein , Crystel Bonnet , Cheikh Tijani Hamed , Malak Salame et al.
BMC Cancer, 2022, 22 (1), pp.802. ⟨10.1186/s12885-022-09903-8⟩
Article dans une revue pasteur-04072696 v1

Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family

Soukaina Elrharchi , Zied Riahi , Sara Salime , Hicham Charoute , Lamiae Elkhattabi et al.
Human Heredity, 2021, 85 (1), pp.35-39. ⟨10.1159/000512712⟩
Article dans une revue pasteur-03219602 v1
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Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis

Léo Varnet , Agnès C Léger , Sophie Boucher , Crystel Bonnet , Christine Petit et al.
Frontiers in Aging Neuroscience, 2021, 13, pp.640522. ⟨10.3389/fnagi.2021.640522⟩
Article dans une revue hal-03154679 v1

A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family

Ghita Amalou , Crystel Bonnet , Zied Riahi , Aymane Bouzidi , Soukaina Elrharchi et al.
International Journal of Pediatric Otorhinolaryngology, 2021, 140, pp.110481. ⟨10.1016/j.ijporl.2020.110481⟩
Article dans une revue pasteur-03215242 v1
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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush

Ana Fakin , Crystel Bonnet , Anne Kurtenbach , Saddek Mohand-Said , Ditta Zobor et al.
International Journal of Molecular Sciences, 2021, 22 (19), pp.10352. ⟨10.3390/ijms221910352⟩
Article dans une revue hal-03417248 v1
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Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy

Christina Zeitz , Cécile Méjécase , Christelle Michiels , Christel Condroyer , Juliette Wohlschlegel et al.
International Journal of Molecular Sciences, 2021, 22 (15), pp.7875. ⟨10.3390/ijms22157875⟩
Article dans une revue inserm-03841438 v1
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment

Rahma Mkaouar , Zied Riahi , Cherine Charfeddine , Imen Chelly , Hela Boudabbous et al.
PLoS ONE, 2021, 16 (10), pp.e0258202. ⟨10.1371/journal.pone.0258202⟩
Article dans une revue pasteur-04072687 v1
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Phylogenetic analysis of Harmonin homology domains

Baptiste Colcombet-Cazenave , Karen Druart , Crystel Bonnet , Christine Petit , Olivier Spérandio et al.
BMC Bioinformatics, 2021, 22 (1), pp.190. ⟨10.1186/s12859-021-04116-5⟩
Article dans une revue hal-03200406 v1
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Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Mouna Hadrami , Crystel Bonnet , Christina Zeitz , Fatimetou Veten , Med Biya et al.
Molecular Vision, 2021, 25, pp.373-381
Article dans une revue pasteur-03219621 v1

ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis

Malika Dahmani , Sonia Talbi , Fatima Ammar-Khodja , Sofiane Ouhab , Farid Boudjenah et al.
International Journal of Pediatric Otorhinolaryngology, 2020, 129, pp.109772. ⟨10.1016/j.ijporl.2019.109772⟩
Article dans une revue pasteur-03219608 v1

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Sophie Boucher , Fabienne Wong Jun Tai , Sedigheh Delmaghani , Andrea Lelli , Amrit Singh-Estivalet et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289. ⟨10.1073/pnas.2010782117⟩
Article dans une revue pasteur-03215054 v1

Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene

Olaia Subirà , Jaume Català-Mora , Jesús Díaz-Cascajosa , Noel Padrón-Pérez , M. Claveria et al.
Eye, 2020, 34 (3), pp.499-506. ⟨10.1038/s41433-019-0536-6⟩
Article dans une revue pasteur-03219607 v1

Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness

Amale Bousfiha , Zied Riahi , Lamiae Elkhattabi , Amina Bakhchane , Hicham Charoute et al.
Human Heredity, 2020, 84 (3), pp.109-116. ⟨10.1159/000503450⟩
Article dans une revue pasteur-03219615 v1

PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT

Samer Khateb , Saddek Mohand-Saïd , Marco Nassisi , Crystel Bonnet , Anne-Françoise Roux et al.
RETINA. The Journal of Retinal and Vitreous Diseases, 2020, 40 (8), pp.1603-1615. ⟨10.1097/IAE.0000000000002636⟩
Article dans une revue pasteur-03215234 v1

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study

Katarina Stingl , Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp et al.
Documenta Ophthalmologica, 2019, 139 (2), pp.151-160. ⟨10.1007/s10633-019-09704-8⟩
Article dans une revue pasteur-03219625 v1

The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions

Sonia Talbi , Crystel Bonnet , Farid Boudjenah , Mohammed Tahar Mansouri , Christine Petit et al.
International Journal of Pediatric Otorhinolaryngology, 2019, 124, pp.157-160. ⟨10.1016/j.ijporl.2019.05.036⟩
Article dans une revue pasteur-03219629 v1
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Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy

Ana Fakin , Maja Šuštar , Jelka Brecelj , Crystel Bonnet , Christine Petit et al.
Genes, 2019, 10 (12), pp.956. ⟨10.3390/genes10120956⟩
Article dans une revue hal-02408154 v1

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

Marwa Sayeb , Zied Riahi , Nadia Laroussi , Crystel Bonnet , Lilia Romdhane et al.
International Journal of Dermatology, 2019, 58 (12), pp.1439-1443. ⟨10.1111/ijd.14452⟩
Article dans une revue pasteur-03219630 v1
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A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family

Mouna Hadrami , Crystel Bonnet , Fatimetou Veten , Christina Zeitz , Christel Condroyer et al.
European Journal of Ophthalmology, 2019, 29 (6), pp.621-628. ⟨10.1177/1120672118804757⟩
Article dans une revue hal-01990091 v1
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Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation

Andrej Zupan , Ana Fakin , Saba Battelino , Martina Jarc-Vidmar , Marko Hawlina et al.
Genes, 2019, 10 (12), pp.1015. ⟨10.3390/genes10121015⟩
Article dans une revue hal-02417524 v1

Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province

Sonia Talbi , Crystel Bonnet , Zied Riahi , Farid Boudjenah , Malika Dahmani et al.
International Journal of Pediatric Otorhinolaryngology, 2018, 112, pp.1-5. ⟨10.1016/j.ijporl.2018.06.012⟩
Article dans une revue pasteur-03219637 v1

Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome

Soukaina Elrharchi , Zied Riahi , Sara Salime , Halima Nahili , Hassan Rouba et al.
International Journal of Pediatric Otorhinolaryngology, 2018, 113 (1), pp.46-50. ⟨10.1016/j.ijporl.2018.07.010⟩
Article dans une revue pasteur-04309116 v1

A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family

Sara Salime , Zied Riahi , Soukaina Elrharchi , Lamiae Elkhattabi , Hicham Charoute et al.
Gene, 2018, 659, pp.89-92. ⟨10.1016/j.gene.2018.03.042⟩
Article dans une revue pasteur-03219641 v1

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5

Justine Lerat , Crystel Bonnet , François Cartault , Natalie Loundon , Marie‐line Jacquemont et al.
Clinical Genetics, 2018, 95 (1), pp.177-181. ⟨10.1111/cge.13460⟩
Article dans une revue hal-03233582 v1

Usher Syndrome and Color Vision

Anne Kurtenbach , Gesa Hahn , Christoph Kernstock , Stephanie Hipp , Ditta Zobor et al.
Current Eye Research, 2018, 43 (10), pp.1295-1301. ⟨10.1080/02713683.2018.1501804⟩
Article dans une revue pasteur-03219639 v1

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases

Antoine Paul , Anthony Drecourt , Floriane Petit , Delphine Dupin Deguine , Christelle Vasnier et al.
American Journal of Human Genetics, 2017, ⟨10.1016/j.ajhg.2017.09.007⟩
Article dans une revue hal-02391701 v1
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A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

Amale Bousfiha , Amina Bakhchane , Hicham Charoute , Zied Riahi , Khalid Snoussi et al.
Human Genome Variation, 2017, 4 (1), pp.17009. ⟨10.1038/hgv.2017.9⟩
Article dans une revue pasteur-03219646 v1

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A

Francesco Testa , Paolo Melillo , Crystel Bonnet , Vincenzo Marcelli , Antonella de Benedictis et al.
RETINA. The Journal of Retinal and Vitreous Diseases, 2017, 37 (8), pp.1581-1590. ⟨10.1097/IAE.0000000000001389⟩
Article dans une revue pasteur-03219649 v1
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Crystel Bonnet , Zied Riahi , Sandra Chantot-Bastaraud , Luce Smagghe , Mélanie Letexier et al.
European Journal of Human Genetics, 2016, 24 (12), pp.1730-1738. ⟨10.1038/ejhg.2016.99⟩
Article dans une revue pasteur-03215026 v1
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Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi , Amel Bahloul , Asma Behlouli , Jean-Pierre Hardelin , Mohamed Makrelouf et al.
PLoS ONE, 2016, 11 (9), pp.e0161893. ⟨10.1371/journal.pone.0161893⟩
Article dans une revue hal-01388303 v1
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Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Sedigheh Delmaghani , Asadollah Aghaie , Yosra Bouyacoub , Hala El Hachmi , Crystel Bonnet et al.
American Journal of Human Genetics, 2016, 98 (6), pp.1266 - 1270. ⟨10.1016/j.ajhg.2016.04.015⟩
Article dans une revue hal-01329650 v1

Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis

Imen Ben-Rebeh , Mhamed Grati , Crystel Bonnet , Walid Bouassida , Imen Hadjamor et al.
Molecular Vision, 2016, 22, pp.827-35
Article dans une revue pasteur-04309124 v1
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Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Zied Riahi , Crystel Bonnet , Rim Zainine , Saida Lahbib , Yosra Bouyacoub et al.
PLoS ONE, 2015, 10 (3), pp.e0120584. ⟨10.1371/journal.pone.0120584⟩
Article dans une revue pasteur-01221041 v1
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Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

Fatima Ammar-Khodja , Crystel Bonnet , Malika Dahmani , Sofiane Ouhab , Gaelle Lefèvre et al.
Molecular Genetics & Genomic Medicine, 2015, 3 (3), pp.189-196. ⟨10.1002/mgg3.131⟩
Article dans une revue pasteur-04309219 v1
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EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss

Malika Dahmani , Fatima Ammar-Khodja , Crystel Bonnet , Gaëlle M Lefèvre , Jean-Pierre Hardelin et al.
Orphanet Journal of Rare Diseases, 2015, 10 (1), pp.96. ⟨10.1186/s13023-015-0316-8⟩
Article dans une revue hal-01188064 v1
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Zied Riahi , Crystel Bonnet , Rim Zainine , Malek Louha , Yosra Bouyacoub et al.
PLoS ONE, 2014, 9 (6), pp.e99797. ⟨10.1371/journal.pone.0099797⟩
Article dans une revue pasteur-01060192 v1

Specific aspects of consanguinity: some examples from the tunisian population.

Lilia Romdhane , Nizar Ben Halim , Insaf Rejeb , Rym Kefi , Yosra Bouyacoub et al.
Human Heredity, 2014, 77 (1-4), pp.167-74. ⟨10.1159/000362167⟩
Article dans une revue pasteur-01061190 v1
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EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.

Asma Behlouli , Crystel Bonnet , Samia Abdi , Aïcha Bouaita , Andrea Lelli et al.
Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.55. ⟨10.1186/1750-1172-9-55⟩
Article dans une revue inserm-00986102 v1
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The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

Elise Pepermans , Michel Vittot , Richard Goodyear , Crystel Bonnet , Samia Abdi et al.
EMBO Molecular Medicine, 2014, 6 (7), pp.984-92. ⟨10.15252/emmm.201403976⟩
Article dans une revue pasteur-01237053 v1

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

Zied Riahi , Houda Chahed , Habib Jaafoura , Rim Zainine , Olfa Messaoud et al.
International Journal of Pediatric Otorhinolaryngology, 2013, 77 (9), pp.1485-8. ⟨10.1016/j.ijporl.2013.06.015⟩
Article dans une revue istex pasteur-00861211 v1

Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment

Crystel Bonnet , M. Louha , N. Loundon , N. Michalski , E. Verpy et al.
Gene, 2013, 527 (2), pp.537-540. ⟨10.1016/j.gene.2013.06.044⟩
Article dans une revue istex pasteur-04309222 v1

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

Zied Riahi , Rim Zainine , Yosra Mellouli , Raja Hannachi , Yosra Bouyacoub et al.
International Journal of Pediatric Otorhinolaryngology, 2013, 77 (9), pp.1481-4. ⟨10.1016/j.ijporl.2013.06.013⟩
Article dans une revue istex pasteur-00860772 v1
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Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Sedigheh Delmaghani , Asadollah Aghaie , Nicolas Michalski , Crystel Bonnet , Dominique Weil et al.
Human Molecular Genetics, 2012, 21 (17), pp.3835-44. ⟨10.1093/hmg/dds212⟩
Article dans une revue pasteur-01472843 v1

Usher syndrome (sensorineural deafness and retinitis pigmentosa)

Crystel Bonnet , Aziz El-Amraoui
Current Opinion in Neurology, 2012, 25 (1), pp.42-49. ⟨10.1097/WCO.0b013e32834ef8b2⟩
Article dans une revue pasteur-03926783 v1

Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2

Ana Fakin , Martina Jarc-Vidmar , Damjan Glavač , Crystel Bonnet , Christine Petit et al.
Vision Research, 2012, 75 (9), pp.60-70. ⟨10.1016/j.visres.2012.08.017⟩
Article dans une revue pasteur-04309231 v1
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Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

Crystel Bonnet , M'Hamed Grati , Sandrine Marlin , Jacqueline Levilliers , Jean-Pierre Hardelin et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.21. ⟨10.1186/1750-1172-6-21⟩
Article dans une revue pasteur-00663885 v1

Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!

Sandrine Marlin , Delphine Feldmann , Yann Nguyen , Isabelle Rouillon , Natalie Loundon et al.
Biochemical and Biophysical Research Communications, 2010, 394 (3), pp.737-742. ⟨10.1016/j.bbrc.2010.03.062⟩
Article dans une revue istex pasteur-04309241 v1

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