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  1. Article

    Open Access

    A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies

    Lymphoblastoid cell lines (LCLs) derive from blood infected in vitro by Epstein–Barr virus and were used in several genetic, transcriptomic and epigenomic studies. Although few changes were shown between LCL a...

    Lise M. Hardy, Yosra Bouyacoub, Antoine Daunay, Mourad Sahbatou… in Scientific Reports (2022)

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  2. No Access

    Article

    Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

    Unexplained sudden death in the young is cardiovascular in most cases. Structural and conduction defects in cardiac-related genes can conspire to underlie sudden cardiac death. Here we report a clinical invest...

    Hager Jaouadi, Yosra Bouyacoub, Sonia Chabrak, Lilia Kraoua, Amira Zaroui… in Herz (2021)

  3. Article

    Open Access

    Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter

    Several blood-based age prediction models have been developed using less than a dozen to more than a hundred DNA methylation biomarkers. Only one model (Z-P1) based on pyrosequencing has been developed using D...

    Imene Garali, Mourad Sahbatou, Antoine Daunay, Laura G. Baudrin… in Scientific Reports (2020)

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  4. No Access

    Article

    Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

    Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is c...

    Faten Ben Rhouma, Hatem Azzouz, François M. Petit… in Molecular Biology Reports (2013)

  5. No Access

    Article

    Consanguinity, endogamy, and genetic disorders in Tunisia

    Nizar Ben Halim, Nissaf Ben Alaya Bouafif, Lilia Romdhane… in Journal of Community Genetics (2013)

  6. No Access

    Article

    An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

    Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. ...

    Moez Gribaa, Mohamed Younes, Yosra Bouyacoub… in Journal of Bone and Mineral Metabolism (2010)