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Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.
Said MB, Ayed IB, Elloumi I, Hasnaoui M, Souissi A, Idriss N, Aloulou H, Chabchoub I, Maâlej B, Driss D, Masmoudi S. Said MB, et al. Among authors: elloumi i. Mol Genet Genomic Med. 2022 Feb;10(2):e1868. doi: 10.1002/mgg3.1868. Epub 2022 Jan 8. Mol Genet Genomic Med. 2022. PMID: 34997822 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: elloumi i. 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
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: elloumi 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.
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: elloumi i. 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. Among authors: elloumi i. Front Neurol. 2023 Mar 9;14:1092887. doi: 10.3389/fneur.2023.1092887. eCollection 2023. Front Neurol. 2023. PMID: 36970549 Free PMC article.
Obstructive congenital epulis.
Ben Hamouda H, Ayat A, Elloumi I, Belaid L, Bouzaiène M, Korbi S, Soua H, Sfar MT. Ben Hamouda H, et al. Among authors: elloumi i. Eur Ann Otorhinolaryngol Head Neck Dis. 2010 May;127(2):86-9. doi: 10.1016/j.anorl.2010.03.002. Epub 2010 Apr 19. Eur Ann Otorhinolaryngol Head Neck Dis. 2010. PMID: 20822763 Free article.