COL4A1 and COL4A2 Gene Duplication or Triplication as a Genetic Cause of Cerebral Small Vessel Disease in Adults D Hervé, SAJ Lesnik Oberstein, E Pipiras, SJ Kittner, D Renard, H Morel, ... Stroke 57 (3), 794-801 , 2026 2026 Citations: 3
Identity-by-descent analysis uncovering a founder event in a novel hereditary small vessel cerebral disease A Maillard, E Pipiras, P Jarnoux, C Aloui, T Coste, M Corpechot, ... Stroke 56 (5), 1285-1289 , 2025 2025 Citations: 1
PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis MSC Ogloblinsky, O Bocher, C Aloui, AL Leutenegger, O Ozisik, A Baudot, ... Genetic epidemiology 49 (1), e22593 , 2025 2025 Citations: 2
Exome sequencing of fetuses with intracranial hemorrhage unravels novel causative genes and an extreme genetic heterogeneity T Coste, C Aloui, J Chanclud, E Blondiaux, J Martinovic, T Attie‐Bitach, ... Prenatal Diagnosis , 2025 2025 Citations: 2
An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease C Aloui, L Neumann, F Bergametti, E Sartori, M Herbreteau, A Maillard, ... JAMA network open 7 (4), e247034 , 2024 2024 Citations: 9
Leveraging healthy population data to assess the pathogenicity of rare variants in WGS using an extension of the PSAP method MS Ogloblinsky, O Bocher, C Aloui, AL Leutenegger, O Ozisik, A Baudot, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 650-650 , 2024 2024
Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya disease A Pinard, W Ye, SM Fraser, JA Rosenfeld, P Pichurin, SE Hickey, D Guo, ... Brain 146 (9), 3616-3623 , 2023 2023 Citations: 30
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations H Morel, L Bailly, C Urbanczyk, D Hervé, S Berroir, R Le Bouc, R Levy, ... Neurology: Genetics 9 (3), e200069 , 2023 2023 Citations: 6
Biallelic variants in NOS3 and GUCY1A3 , the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy S Guey, D Hervé, M Kossorotoff, G Ha, C Aloui, F Bergametti, M Arnould, ... Human genomics 17 (1), 24 , 2023 2023 Citations: 12
Correction to: Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease A Pinard, W Ye, SM Fraser, JA Rosenfeld, P Pichurin, SE Hickey, D Guo, ... Brain 146 (e74), e74 , 2023 2023
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype T Coste, C Aloui, F Petit, S Moutton, L Devisme, CF Wells, N Leboucq, ... Ultrasound in Obstetrics & Gynecology 60 (6), 805-811 , 2022 2022 Citations: 6
How Should QC of Sequencing Data be Performed for Rare Variant Association Testing with External Controls? G Marenne, TE Ludwig, O Bocher, AF Herzig, C Aloui, ... GENETIC EPIDEMIOLOGY 46 (7), 514-515 , 2022 2022
Leveraging Healthy Population Data to Assess the Pathogenicity of Rare Variants in WGS: Extension of PSAP Method to the Non-coding Genome MSC Ogloblinsky, O Bocher, C Aloui, E Tournier-Lasserve, DF Conrad, ... GENETIC EPIDEMIOLOGY 46 (7), 521-521 , 2022 2022
RAVAQ: An integrative pipeline from quality control to region‐based rare variant association analysis G Marenne, TE Ludwig, O Bocher, AF Herzig, C Aloui, ... Genetic Epidemiology 46 (5-6), 256-265 , 2022 2022 Citations: 8
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage T Coste, C Vincent‐Delorme, M Stichelbout, L Devisme, A Gelot, ... Prenatal diagnosis 42 (5), 601-610 , 2022 2022 Citations: 31
End‐truncated LAMB1 causes a hippocampal memory defect and a leukoencephalopathy C Aloui, D Hervé, G Marenne, F Savenier, K Le Guennec, F Bergametti, ... Annals of Neurology 90 (6), 962-975 , 2021 2021 Citations: 18
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome C Aloui, S Guey, E Pipiras, M Kossorotoff, S Guéden, M Corpechot, ... Journal of Medical Genetics 57 (5), 339-346 , 2020 2020 Citations: 12
Dysregulated pathways and differentially expressed proteins associated with adverse transfusion reactions in different types of platelet components C Aloui, C Barlier, D Awounou, S Thiam, J Fagan, S Claverol, E Tavernier, ... Journal of Proteomics 218, 103717 , 2020 2020 Citations: 9
Missense Pathogenic Variants in ANO1 Predispose to Moyamoya Disease A Pinard, M He, JA Rosenfeld, W Ye, S Guey, S Hickey, AM Lewis, ... Stroke 51 (Suppl_1), A53-A53 , 2020 2020
Protéines différentiellement exprimées dans les concentrés plaquettaires associés à des effets indésirables receveurs D Awounou, C Aloui, C Barlier, J Fagan, S Claverol, S Thiam, A Bernard, ... Transfusion Clinique et Biologique 26 (3), S85-S87 , 2019 2019
MOST CITED SCHOLAR PUBLICATIONS
The signaling role of CD40 ligand in platelet biology and in platelet component transfusion C Aoui, A Prigent, C Sut, S Tariket, H Hamzeh-Cognasse, B Pozzetto, ... International journal of molecular sciences 15 (12), 22342-22364 , 2014 2014 Citations: 254
Transfusion as an inflammation hit: knowns and unknowns O Garraud, S Tariket, C Sut, A Haddad, C Aloui, T Chakroun, S Laradi, ... Frontiers in Immunology 7, 534 , 2016 2016 Citations: 92
The non-hemostatic aspects of transfused platelets C Sut, S Tariket, C Aubron, C Aloui, H Hamzeh-Cognasse, P Berthelot, ... Frontiers in medicine 5, 42 , 2018 2018 Citations: 89
Platelet components associated with adverse reactions: predictive value of mitochondrial DNA relative to biological response modifiers F Cognasse, C Aloui, K Anh Nguyen, H Hamzeh‐Cognasse, J Fagan, ... Transfusion 56 (2), 497-504 , 2016 2016 Citations: 66
Transfusion-associated hazards: a revisit of their presentation O Garraud, C Sut, A Haddad, S Tariket, C Aloui, S Laradi, ... Transfusion Clinique et Biologique 25 (2), 118-135 , 2018 2018 Citations: 52
Clinical and molecular features of 5 European multigenerational families with moyamoya angiopathy L Grangeon, S Guey, JC Schwitalla, F Bergametti, M Arnould, ... Stroke 50 (4), 789-796 , 2019 2019 Citations: 36
Levels of human platelet-derived soluble CD40 ligand depend on haplotypes of CD40LG-CD40 - ITGA2 C Aloui, A Prigent, S Tariket, C Sut, J Fagan, F Cognasse, T Chakroun, ... Scientific Reports 6 (1), 24715 , 2016 2016 Citations: 35
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage T Coste, C Vincent‐Delorme, M Stichelbout, L Devisme, A Gelot, ... Prenatal diagnosis 42 (5), 601-610 , 2022 2022 Citations: 31
Rare variants in ANO1 , encoding a calcium-activated chloride channel, predispose to moyamoya disease A Pinard, W Ye, SM Fraser, JA Rosenfeld, P Pichurin, SE Hickey, D Guo, ... Brain 146 (9), 3616-3623 , 2023 2023 Citations: 30
Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions? C Aloui, C Sut, A Prigent, J Fagan, F Cognasse, V Granados-Herbepin, ... Scientific Reports 4 (1), 7239 , 2014 2014 Citations: 29
Soluble CD40L and CD62P levels differ in single‐donor apheresis platelet concentrates and buffy coat–derived pooled platelet concentrates C Sut, S Tariket, C Aloui, CA Arthaud, MA Eyraud, J Fagan, P Chavarin, ... Transfusion 59 (1), 16-20 , 2019 2019 Citations: 19
End‐truncated LAMB1 causes a hippocampal memory defect and a leukoencephalopathy C Aloui, D Hervé, G Marenne, F Savenier, K Le Guennec, F Bergametti, ... Annals of Neurology 90 (6), 962-975 , 2021 2021 Citations: 18
Differential protein expression of blood platelet components associated with adverse transfusion reactions C Aloui, C Barlier, S Claverol, J Fagan, D Awounou, E Tavernier, ... Journal of proteomics 194, 25-36 , 2019 2019 Citations: 16
Assessment of soluble platelet CD40L and CD62P during the preparation process and the storage of apheresis platelet concentrates: absence of factors related to donors and donations C Sut, C Aloui, S Tariket, CA Arthaud, MA Eyraud, J Fagan, P Chavarin, ... Transfusion Clinique et Biologique 25 (3), 192-196 , 2018 2018 Citations: 15
Genetic basis of cystinosis in Tunisian patients: Identification of novel mutation in CTNS gene L Chkioua, S Khedhiri, O Grissa, C Aloui, HB Turkia, S Ferchichi, A Miled, ... Meta Gene 5, 144-149 , 2015 2015 Citations: 14
Leucocyte cytokines dominate platelet cytokines overtime in non-leucoreduced platelet components C Aloui, T Chakroun, A Prigent, S Jemni-Yacoub, F Cognasse, S Laradi, ... Blood Transfusion 16 (1), 63 , 2016 2016 Citations: 13
Biallelic variants in NOS3 and GUCY1A3 , the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy S Guey, D Hervé, M Kossorotoff, G Ha, C Aloui, F Bergametti, M Arnould, ... Human genomics 17 (1), 24 , 2023 2023 Citations: 12
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome C Aloui, S Guey, E Pipiras, M Kossorotoff, S Guéden, M Corpechot, ... Journal of Medical Genetics 57 (5), 339-346 , 2020 2020 Citations: 12
From donor to recipient: Current questions relating to humoral alloimmunization A Prigent, N Maillard, L Absi, C Aloui, F Cognasse, S Laradi, C Mariat, ... Antibodies 3 (1), 130-152 , 2014 2014 Citations: 12
An AluYa5 Insertion in the 3′UTR of COL4A1 and Cerebral Small Vessel Disease C Aloui, L Neumann, F Bergametti, E Sartori, M Herbreteau, A Maillard, ... JAMA network open 7 (4), e247034 , 2024 2024 Citations: 9
