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Elma El Khouri

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
2018 · Charles Coutton, Alexandra S. Vargas, et al. · Nature Communications · 262
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Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia
2018 · Patrick Lorès, Charles Coutton, et al. · Human Molecular Genetics · 131
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Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
2016 · Elma El Khouri, Lucie Thomas, et al. · The American Journal of Human Genetics · 109
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RNF185 Is a Novel E3 Ligase of Endoplasmic Reticulum-associated Degradation (ERAD) That Targets Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)
2013 · Elma El Khouri, Gwenaëlle Le Pavec, et al. · Journal of Biological Chemistry · 108
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Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility
2019 · Patrick Lorès, Denis Dacheux, et al. · The American Journal of Human Genetics · 80
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NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations
2019 · Camille Louvrier, Eman Assrawi, et al. · Journal of Allergy and Clinical Immunology · 69
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Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): Physiological and pathophysiological relevance
2014 · Elma El Khouri, Aminata Touré · The International Journal of Biochemistry & Cell Biology · 69
Somatic Mosaic NLRP3 Mutations and Inflammasome Activation in Late-Onset Chronic Urticaria
2019 · Eman Assrawi, Camille Louvrier, et al. · Journal of Investigative Dermatology · 32
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Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse
2018 · Elma El Khouri, Marjorie Whitfield, et al. · Molecular Reproduction and Development · 29
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency
2021 · Samuel Deshayes, Céline Bazille, et al. · Liver International · 24
CCDC65 , encoding a component of the axonemal Nexin‐Dynein regulatory complex, is required for sperm flagellum structure in humans
2023 · Fadwa Jreijiri, Emma Cavarocchi, et al. · Clinical Genetics · 21
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Wnt/β-catenin pathway and cell adhesion deregulation in CSDE1-related intellectual disability and autism spectrum disorders
2021 · E. El Khouri, J. Ghoumid, et al. · Molecular Psychiatry · 21
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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
De Novo Gain‐Of‐Function Variations in LYN Associated With an Early‐Onset Systemic Autoinflammatory Disorder
2022 · Camille Louvrier, Elma El Khouri, et al. · Arthritis & Rheumatology · 18
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Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome
2022 · Eman Assrawi, Camille Louvrier, et al. · Rheumatology · 16
RNF213-associated urticarial lesions with hypercytokinemia
2022 · Camille Louvrier, Fawaz Awad, et al. · Journal of Allergy and Clinical Immunology · 14
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Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia
2018 · Patrick Lorès, Charles Coutton, et al. · Human Molecular Genetics · 8
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Identification of IQCH as a calmodulin-associated protein required for sperm motility in humans
2023 · Emma Cavarocchi, Camille Sayou, et al. · iScience · 6
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Author response for "CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans"
2023 · Jreijiri, Fadwa, Cavarocchi, Emma, et al. · Publons reviews and discussion · 1
Author response for "CCDC65, encoding a component of the axonemal Nexin-Dynein regulatory complex, is required for sperm flagellum structure in humans"
2023 · Jreijiri, Fadwa, Cavarocchi, Emma, et al. · Publons reviews and discussion · 1
Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations
2024 · Assrawi, Eman, Khouri, Elma, El, 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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Lésions urticariennes chroniques associées à une hypercytokinémie massive : une nouvelle maladie mendélienne
2021 · Camille Louvrier, Fawaz Awad, et al. · Annales de Dermatologie et de Vénéréologie - FMC
Identification de RNF185 comme une ubiquitine ligase impliquée dans la voie de dégradation associée au réticulum endoplasmique (ERAD) de CFTR
2012 · Elma El Khouri · theses.fr (ABES)
Works count: 29
Citation count: 1,037
H-index: 15
I10-index: 16
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