Collaborating with BioJeL on a research project

Promoting scientific research into intellectual deficiencies of genetic origin

BioJeL offers the scientific community access to its collections.
Access to samples and their associated data is granted subjected to certain conditions, mostly of an ethical or regulatory nature. Requests for collaboration are submitted to the Scientific Board of BioJeL for validation of their pertinence to its activity.

Most of the projects concern trisomy 21 and associated comorbid conditions

BioJeL is associated with several projects:

  • Molecular Genetics & Genomic Medicine, DOI: 10:1002/mgg3.480, Accepted: 29 August 2018.
    Contribution of next-generation sequencing in pediatric practice in Lebanon. A study on 213 cases.
    Pratibha Nair, Sandra Sabbagh, Hicham Mansour, Ali Fawaz, Ghassan Hmaimess, Peter Noun, Rawane Dagher, Hala Mégarbané, Sayeeda Hana, Saada Alame, Maher Lamaa, Dana Hasbini, Roula Farah, Mariam Rajab, Samantha Stora, Oulfat El-Tourjuman, Pauline Abou Jaoude, Gihad Chalouhi, Rony Sayad, Anne-Céline Gillart, Mahmud Al-Ali, Valérie Delague, Stephany El-Halyek, André Mégarbané.
  • Molecular Syndromology, Accepted: 29 August 2018.
    COQ8Q and MED25 Mutations in a child with intellectual disability, microcephaly, seizures, and spastic ataxia: synergistic effect of digenic variants?
    Nair P., Lamaa M., El-Hayek S., Abou-Sleymane G., Stora S., Obeid M., Taleb El-Ali M., Delague V., Mégarbané A.
  • Clin Genet.2018 Mar; 93(3): 703-706. doi: 10.1111/cge.13166. Epub 2018 Jan 25.
    Homozygous mutation in ELMO2 may cause Raymon syndrome.
    Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarabané A.
  • Clinical Epigenetics, 2019 December 16
    Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation
    Haertle, T. Müller, R. Lardenoije, A. Maierhofer, M. Dittrich, R. J. M. Riemens, S. Stora, M. Roche, M. Leber, S. Riedel-Heller, M. Wagner, M. Scherer, A. Ravel, C. Mircher, C. Cieuta-Walti, S. Durand, D. L. A. van de Hove, P. Hoffmann, A. Ramirez, T. Haaf, N. El Hajj& A. Mégarbané
  • Genet Med. 2019 Jul 8.
    Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
    Mircher C, Sacco S, Bouis C, Gallard J, Pichot A, Le Galloudec E, Cieuta C, Marey I, Greiner-Mahler O, Dorison N, Gambarini A, Stora S, Durand S, Polak M, Baruchel A, Schlumberger E, Dewailly J, Azar-Kolakez A, Guéant-Rodriguez RM, Guéant JL, Borderie D, Bonnefont-Rousselot D, Blondiaux E, Ravel A, Sturtz FG.
  • Mol Syndromol. 2019 Jan
    COQ8A and MED25 Mutations in a child with intellectual disability, microcephaly, seizures, and spastic ataxia: synergistic effect of digenic variants?
    Pratibha Nair, Maher Lama, Stephany El-Hayek, Gretta Abou Sleymane, Samantha Stora, Marc Obeid, Mahmoud T. Al-Ali, Valérie Delague, André Mégarbané.
  • J Pediatr Genet. 2019 March 1
    The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency
    Hicham Mansour, Sandra Sabbagh, Sami Bizzari, Stephany El-Hayek, Eliane Chouery, Alicia Gambarini, Martin Gencik, André Mégarbané.