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Genome Tunisia Project: paving the way for precision medicine in North Africa.
Hamdi Y, Trabelsi M, Ghedira K, Boujemaa M, Ben Ayed I, Charfeddine C, Souissi A, Rejeb I, Kammoun Rebai W, Hkimi C, Neifar F, Jandoubi N, Mkaouar R, Chaouch M, Bennour A, Kamoun S, Chaker Masmoudi H, Abid N, Mezghani Khemakhem M; GTCA Consortium; Masmoudi S, Saad A, BenJemaa L, BenKahla A, Boubaker S, Mrad R, Kamoun H, Abdelhak S, Gribaa M, Belguith N, Kharrat N, Hmida D, Rebai A. Hamdi Y, et al. Among authors: ben ayed i. Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w. Genome Med. 2024. PMID: 39187811 Free PMC article.
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.
Ben Said M, Jallouli O, Ben Aissa A, Souissi A, Kamoun F, Fakhfakh F, Masmoudi S, Ben Ayed I, Charfi Triki C. Ben Said M, et al. Among authors: ben ayed i. Epilepsia Open. 2024 Oct;9(5):1697-1709. doi: 10.1002/epi4.12848. Epub 2024 Jul 25. Epilepsia Open. 2024. PMID: 37867425 Free PMC article.
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
Souissi A, Ben Said M, Ben Ayed I, Elloumi I, Bouzid A, Mosrati MA, Hasnaoui M, Belcadhi M, Idriss N, Kamoun H, Gharbi N, Gibriel AA, Tlili A, Masmoudi S. Souissi A, et al. Among authors: ben said m, ben ayed i. J Adv Res. 2021 Jan 12;31:13-24. doi: 10.1016/j.jare.2021.01.005. eCollection 2021 Jul. J Adv Res. 2021. PMID: 34194829 Free PMC article.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S. Ben Ayed I, et al. Among authors: ben said m. Am J Med Genet A. 2021 Apr;185(4):1081-1090. doi: 10.1002/ajmg.a.62065. Epub 2021 Jan 6. Am J Med Genet A. 2021. PMID: 33403770
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C. Ben Ayed I, et al. Among authors: ben said m, ben nsir s. Eur J Med Genet. 2021 Dec;64(12):104373. doi: 10.1016/j.ejmg.2021.104373. Epub 2021 Oct 29. Eur J Med Genet. 2021. PMID: 34737153
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Ben Ayed I, Jallouli O, Murakami Y, Souissi A, Mallouli S, Bouzid A, Kamoun F, Elloumi I, Frikha F, Tlili A, Weckhuysen S, Kinoshita T, Triki CC, Masmoudi S. Ben Ayed I, et al. Front Neurol. 2023 Mar 9;14:1092887. doi: 10.3389/fneur.2023.1092887. eCollection 2023. Front Neurol. 2023. PMID: 36970549 Free PMC article.
72 results