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PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis.
Ogloblinsky MC, Bocher O, Aloui C, Leutenegger AL, Ozisik O, Baudot A, Tournier-Lasserve E, Castillo-Madeen H, Lewinsohn D, Conrad DF, Génin E, Marenne G. Ogloblinsky MC, et al. Among authors: aloui c. Genet Epidemiol. 2025 Jan;49(1):e22593. doi: 10.1002/gepi.22593. Epub 2024 Sep 24. Genet Epidemiol. 2025. PMID: 39318036 Free article.
An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.
Aloui C, Neumann L, Bergametti F, Sartori E, Herbreteau M, Maillard A, Coste T, Morel H, Hervé D, Chabriat H, Timsit S, Viakhireva I, Denoyer Y, Allibert R, Demurger F, Gollion C, Vermersch P, Marchelli F, Blugeon C, Lemoine S, Tourtier-Bellosta C, Brouazin A, Leutenegger AL, Pipiras E, Tournier-Lasserve E. Aloui C, et al. JAMA Netw Open. 2024 Apr 1;7(4):e247034. doi: 10.1001/jamanetworkopen.2024.7034. JAMA Netw Open. 2024. PMID: 38630472 Free PMC article.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM. Pinard A, et al. Among authors: aloui c. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Brain. 2023. PMID: 37253099 Free PMC article.
Rare metabolic disease mimicking COL4A1/COL4A2 fetal brain phenotype.
Coste T, Aloui C, Petit F, Moutton S, Devisme L, Wells CF, Leboucq N, Verpillat P, Yvert M, Rivier F, Tournier-Lasserve E. Coste T, et al. Among authors: aloui c. Ultrasound Obstet Gynecol. 2022 Dec;60(6):805-811. doi: 10.1002/uog.26046. Ultrasound Obstet Gynecol. 2022. PMID: 35943828 Free PMC article.
32 results