Souissi A - Search Results

1

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: souissi a. 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.

2

Gene duplication and functional divergence of the zebrafish otospiralin genes.

Baanannou A, Rastegar S, Bouzid A, Takamiya M, Gerber V, Souissi A, Beil T, Jrad O, Strähle U, Masmoudi S. Baanannou A, et al. Among authors: souissi a. Dev Genes Evol. 2020 Jan;230(1):27-36. doi: 10.1007/s00427-019-00642-8. Epub 2019 Dec 14. Dev Genes Evol. 2020. PMID: 31838648

3

Correction to: Gene duplication and functional divergence of the zebrafish otospiralin genes.

Baanannou A, Rastegar S, Bouzid A, Takamiya M, Gerber V, Souissi A, Beil T, Jrad O, Strähle U, Masmoudi S. Baanannou A, et al. Among authors: souissi a. Dev Genes Evol. 2020 Jan;230(1):37. doi: 10.1007/s00427-020-00647-8. Dev Genes Evol. 2020. PMID: 31989242

4

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.

Bouzid A, Tekari A, Jbeli F, Chakroun A, Hansdah K, Souissi A, Singh N, Mosrati MA, Achour I, Ghorbel A, Charfeddine I, Ramchander PV, Masmoudi S. Bouzid A, et al. Among authors: souissi a. BMC Med Genet. 2020 Jun 3;21(1):122. doi: 10.1186/s12881-020-01036-8. BMC Med Genet. 2020. PMID: 32493243 Free PMC article.

5

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: souissi a. 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

6

SARS-CoV-2 tracking in Tunisia through next-generation sequencing: lessons for the future.

Rebai A, Souissi A, Abid N, Masmoudi S. Rebai A, et al. Among authors: souissi a. EuroMediterr J Environ Integr. 2021;6(2):40. doi: 10.1007/s41207-021-00254-7. Epub 2021 Apr 2. EuroMediterr J Environ Integr. 2021. PMID: 33824883 Free PMC article.

7

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. 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.

8

Genetics and meta-analysis of recessive non-syndromic hearing impairment and Usher syndrome in Maghreb population: lessons from the past, contemporary actualities and future challenges.

Souissi A, Gibriel AA, Masmoudi S. Souissi A, et al. Hum Genet. 2022 Apr;141(3-4):583-593. doi: 10.1007/s00439-021-02314-y. Epub 2021 Jul 15. Hum Genet. 2022. PMID: 34268600 Review.

9

Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.

Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A. Souissi A, et al. Genet Test Mol Biomarkers. 2021 Aug;25(8):528-539. doi: 10.1089/gtmb.2021.0092. Genet Test Mol Biomarkers. 2021. PMID: 34406847

10

Molecular insights into MYO3A kinase domain variants explain variability in both severity and progression of DFNB30 hearing impairment.

Souissi A, Abdelmalek Driss D, Chakchouk I, Ben Said M, Ben Ayed I, Mosrati MA, Elloumi I, Tlili A, Aifa S, Masmoudi S. Souissi A, et al. J Biomol Struct Dyn. 2022;40(21):10940-10951. doi: 10.1080/07391102.2021.1953600. Epub 2021 Aug 23. J Biomol Struct Dyn. 2022. PMID: 34423747

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