Rahma MANI

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Publications

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FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1 -associated primary ciliary dyskinesia

Lucie Thomas , Jacques Serizay , Rahma Mani , Sandrine Couvet , Jean-François Papon et al.

American Journal of Respiratory Cell and Molecular Biology, 2026, ⟨10.1093/ajrcmb/aanag071⟩

Article dans une revue (data paper) inserm-05632428v1
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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 Rabbaa et al.

Journal of Clinical Immunology, 2025, 45 (1), pp.111. ⟨10.1007/s10875-025-01907-w⟩

Article dans une revue (data paper) inserm-05291610v1
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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 Tissier et al.

Journal of Human Genetics, 2022, ⟨10.1038/s10038-021-01006-9⟩

Article dans une revue hal-03551986v1

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

Rahma Mani , Sabrina Belkacem , Zohra Soua , Sandra Chantot , Guy Montantin et al.

Human Mutation, 2019, 41 (1), pp.115-121. ⟨10.1002/humu.23905⟩

Article dans une revue inserm-03798385v1

A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia

Antony Terance Benjamin , Ram Ganesh , Balan Louis Gaspar , Jane Lucas , Claire Jackson et al.

Indian Journal of Pediatrics, 2019, 86 (7), pp.664-665. ⟨10.1007/s12098-019-02970-z⟩

Article dans une revue inserm-03798432v1

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association

Gert Jan Vanaken , Laurence Bassinet , Mieke Boon , Rahma Mani , Isabelle Honoré et al.

European Respiratory Journal, 2017, 50 (5), pp.1700314. ⟨10.1183/13993003.00314-2017⟩

Article dans une revue inserm-03837666v1
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Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations

Eman Assrawi , Elma El Khouri , Camille Louvrier , William Piterboth , Florence Dastot Le Moal et al.

Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

Poster de conférence inserm-04412198v1
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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 Daskalopoulou et al.

Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

Poster de conférence inserm-04405530v1
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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 Daskalopoulou et al.

European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany

Poster de conférence inserm-04674678v1
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Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations

Eman Assrawi , Elma El Khouri , Camille Louvrier , William Piterboth , Florence Dastot Le Moal et al.

European Society of Human Genetics, Jun 2024, Berlin (Germany), Germany

Poster de conférence inserm-04674708v1
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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 Benito et al.

european respiratory society, Sep 2023, Milan (Italie), Italy

Poster de conférence inserm-04210979v1
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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 Maximo et al.

EMBO Cilia, Oct 2022, Cologne, Allemagne, Germany

Poster de conférence inserm-04121439v1
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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-Rosendahl et 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 Montantin et al.

Assises de Génétique Humaine et Médicale, Jan 2018, Nantes, France

Poster de conférence inserm-03952653v1

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 Montantin et al.

Assises de Génétique Humaine et Médicale, Jan 2020, Tours (France), France

Communication dans un congrès inserm-03952243v1