Rahma MANI

Identifiants chercheurs

IdHAL :

rahma-mani

ORCID :

0000-0003-4603-1016

Publications

Article dans une revue (5)

Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity Farah Diab,Camille Louvrier,Marc Fabre,Christine Lin,Mira Rabbaaet al. Journal of Clinical Immunology, 2025, 45 (1), pp.111. ⟨10.1007/s10875-025-01907-w⟩ Article dans une revue (data paper) inserm-05291610v1
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients Imed Mabrouk,Nawal Al-Harthi,Rahma Mani,Guy Montantin,Sylvie Tissieret al. Journal of Human Genetics, 2022, ⟨10.1038/s10038-021-01006-9⟩ Article dans une revue hal-03551986v1
A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia Antony Terance Benjamin,Ram Ganesh,Balan Louis Gaspar,Jane Lucas,Claire Jacksonet al. Indian Journal of Pediatrics, 2019, 86 (7), pp.664-665. ⟨10.1007/s12098-019-02970-z⟩ Article dans une revue inserm-03798432v1
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele Rahma Mani,Sabrina Belkacem,Zohra Soua,Sandra Chantot,Guy Montantinet al. Human Mutation, 2019, 41 (1), pp.115-121. ⟨10.1002/humu.23905⟩ Article dans une revue inserm-03798385v1
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association Gert Jan Vanaken,Laurence Bassinet,Mieke Boon,Rahma Mani,Isabelle Honoréet al. European Respiratory Journal, 2017, 50 (5), pp.1700314. ⟨10.1183/13993003.00314-2017⟩ Article dans une revue inserm-03837666v1

Poster de conférence (8)

Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations Eman Assrawi,Elma El Khouri,Camille Louvrier,William Piterboth,Florence Dastot Le Moalet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Poster de conférence inserm-04412198v1
Expression tardive d’une maladie autoinflammatoire : identification et caractérisation fonctionnelle d’une variation de NLRC4 en mosaïque Farah Diab,Camille Louvrier,Marc Fabre,Mira Rabbaa,Aphrodite Daskalopoulouet al. Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France Poster de conférence inserm-04405530v1
Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4 Farah Diab,Camille Louvrier,Marc Fabre,Mira Rabbaa,Aphrodite Daskalopoulouet al. European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany Poster de conférence inserm-04674678v1
Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations Eman Assrawi,Elma El Khouri,Camille Louvrier,William Piterboth,Florence Dastot Le Moalet al. European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany Poster de conférence inserm-04674708v1
Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration. Suzanne Crowley,William Hankey,Marwa Elnagheeb,Rahma Mani,Maria-Ines Benitoet al. european respiratory society, Sep 2023, Milan (Italie), Italy Poster de conférence inserm-04210979v1
Development and first results of the BEAT-PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar Amelia Shoemark,Rahma Mani,Mafalda Gomes,Adrian Gonzales R.,Sun Maximoet al. EMBO Cilia, Oct 2022, Cologne, Allemagne, Germany Poster de conférence inserm-04121439v1
Development and first results of the BEAT PCD international Primary Ciliary Dyskinesia gene variant database: CiliaVar Rahma Mani,Mafalda Gomes,Adrián Rodríguez González,Claire Hogg,Deborah Morris-Rosendahlet al. ERS International Congress 2021, in session “Prediction of exacerbations in patients with COPD”, Sep 2021, Online, United Kingdom. European Respiratory Society, pp.PA3458, ⟨10.1183/13993003.congress-2021.PA3458⟩ Poster de conférence inserm-04121677v2
Diagnostic moléculaire de la dyskinésie ciliaire primitive dans une cohorte tunisienne : identification d’un allèle majeur Rahma Mani,Imed Mabrouk,Bruno Copin,Florence Dastot - Le Moal,Guy Montantinet al. Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France Poster de conférence inserm-03952653v1

Communication dans un congrès (1)

Spectre génétique de la dyskinésie ciliaire primitive en Tunisie et identification d'un allèle majeur Méditerranéen. Rahma Mani,Sabrina Belkacem,Zohra Soua,Sandra Chantot-Bastaraud,Guy Montantinet al. Assises de Génétique Humaine et Médicale, Jan 2020, Tours (France), France Communication dans un congrès inserm-03952243v1