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Farah Diab

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome
2020 · Ilaria Parenti, Farah Diab, et al. · Cell Reports · 65
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Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein
2020 · Artem Kim, Jérôme Le Douce, et al. · Brain · 19
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A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation
2023 · Elma El Khouri, Farah Diab, et al. · eLife · 18
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity
2025 · Farah Diab, Camille Louvrier, et al. · Journal of Clinical Immunology · 8
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Low-level NLRP3 mosaicism in chronic urticarial lesions: extending the phenotypic spectrum of NLRP3-related disorders and therapeutic implications
2025 · Aphrodite Daskalopoulou, Eman Assrawi, et al. · British Journal of Dermatology · 4
Impact of Sonic Hedgehog‐dependent sphenoid bone defect on craniofacial growth
2024 · Hélène Guyodo, Aurélie Rizzo, et al. · Clinical and Experimental Dental Research · 4
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Deciphering the pathogenicity of three NKX2-1 variants in ultra-severe forms of childhood interstitial lung disease
2025 · Yohan David Soreze, Tifenn Desroziers-Louedec, et al. · PLoS ONE · 2
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Mapping the temporal and functional landscape of Sonic Hedgehog signaling reveals new insights into early human forebrain development
2025 · Veranika Panasenkava, Jules Garreau, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 1
Maladies auto-inflammatoires liées à NLRC4 : Caractérisation fonctionnelle de variantsconnus et nouvellement décrits
2026 · Diab, Farah, Grandi, Desiree, et al. · HAL
Mosaïcisme de TNFRSF1A : élargissement du spectre moléculaire et clinique du TRAPS
2026 · Daskalopoulou, Aphrodite, Assrawi, Eman, et al. · HAL
Deciphering the pathogenicity of NKX2-1 variants in ultra-severe forms of childhood interstitial lung diseases. A CRC chILDEU study.
2025 · Yohan Soreze, Tifenn Desroziers-Louedec, et al. · European Respiratory Journal
Baseline Single‐Cell Differences in Polyfunctionality Between Systemic Autoinflammatory Diseases Patients and Healthy Controls
2025 · Aline Linder, Farah Diab, et al. · European Journal of Immunology
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Exploring Mosaic NLRP3 Variants: From Chronic Urticaria to Neonatal Autoinflammatory Disease
2025 · Daskalopoulou, Aphrodite, Assrawi, Eman, et al. · HAL
Analyses fonctionnelles de variants dans NKX2,1 associés à des phénotypes respiratoires très sévères
2025 · Y. Soreze, T. Desroziers-Louedec, et al. · Revue des Maladies Respiratoires Actualités
Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4
2024 · Diab, Farah, Louvrier, Camille, et al. · HAL
Analyse fonctionnelle de variants de NKX2-1 associés à des phénotypes respiratoires ultra-sévères
2024 · Soreze, Yohan, Desroziers, Tifenn, et al. · HAL
Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations
2024 · Assrawi, Eman, Khouri, Elma, El, et al. · HAL
Expression tardive d’une maladie autoinflammatoire : identification et caractérisation fonctionnelle d’une variation de NLRC4 en mosaïque
2024 · Diab, Farah, Louvrier, Camille, et al. · HAL
Author response: A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation
2023 · Elma El Khouri, Farah Diab, et al. · eLife
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Molecular causes and physiopathological consequences of Hallermann-Streiff syndrome
2019 · Farah Diab · theses.fr (ABES)
Novel gene and pathomechanism in Cornelia de Lange syndrome
2019 · Parenti, I., Gil, S. Ruiz, et al. · HAL
Works count: 25
Citation count: 121
H-index: 4
I10-index: 3
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