Collaborer avec le CRB-BioJeL pour un projet de recherche
Promouvoir la recherche scientifique sur les déficiences intellectuelles d’origine génétique
Le CRB-BioJeL propose à la communauté scientifique ses collections.
L’accès aux échantillons et à leurs données associées se fait sous certaines conditions, notamment d’ordre éthique et réglementaire. Les demandes de collaboration sont présentées au Conseil Scientifique du CRB-BioJeL pour valider leur adéquation avec son activité.
La majorité des projets s’articule autour de la trisomie 21 et des comorbidités associées.
Ces projets donnent lieu à diverses publications :
- Contribution of next-generation sequencing in pediatric practice in Lebanon. A study on 213 cases.
Molecular Genetics & Genomic Medicine, 29 August 2018.
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.
- COQ8Q and MED25 Mutations in a child with intellectual disability, microcephaly, seizures, and spastic ataxia: synergistic effect of digenic variants?
Molecular Syndromology, 29 August 2018.
Nair P., Lamaa M., El-Hayek S., Abou-Sleymane G., Stora S., Obeid M., Taleb El-Ali M., Delague V., Mégarbané A. - Homozygous mutation in ELMO2 may cause Raymon syndrome.
Clin Genet.2018 Mar; Epub 2018 Jan 25.
Mehawej C, Hoischen A, Farah RA, Marey I, David M, Stora S, Lachlan K, Brunner HG, Mégarabané A.
- Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation
Clinical Epigenetics, 2019 December 16
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 - Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review
J. Pediatr Genet. 2019 Dec 8.
Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. - Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Mol Syndromol. 2019 Jul 10
Nair P, Sabbagh S, Bizzari S, Brunner F, Stora S, Al-Ali MT, Gencik M, El-Hayek S, Mégarbané A. - Thyroid hormone and folinic acid in young children with Down syndrome: the phase 3 ACTHYF trial.
Genet Med. 2019 Jul 8.
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. - The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency
J Pediatr Genet. 2019 March 1
Hicham Mansour, Sandra Sabbagh, Sami Bizzari, Stephany El-Hayek, Eliane
Chouery, Alicia Gambarini, Martin Gencik, André Mégarbané. - COQ8A and MED25 Mutations in a child with intellectual disability, microcephaly, seizures, and spastic ataxia: synergistic effect of digenic variants?
Mol Syndromol. 2019 Jan
Pratibha Nair, Maher Lama, Stephany El-Hayek, Gretta Abou Sleymane, Samantha Stora, Marc Obeid, Mahmoud T. Al-Ali, Valérie Delague, André Mégarbané.
- Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.
Am J Med Genet A. – 2020 Feb 5
A. Mégarbané, A. Deepthi, M. Obeid, T Al-Ali M, Gambarini A., El-Hayek S. - Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Eur J Med Genet. – 2020 Jan 30
Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A. - CNTNAP1 Mutations and Their Clinical Presentations: New Case – Report and Systematic Review
Hindawi – 2020 Apr 13
S. Sabbagh ,S. Antoun and A. Mégarbane - Transcriptomic study in women with trisomy 21 identifes a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer
Scientific Reports – 2020 Jun 10
A. Mégarbané, D. Piquemal, A.-S. Rebillat, S. Stora, F. Pierrat, R. Bruno, F. Noguier, C. Mircher, A. Ravel, M. Vilaire-Meunier, S. Durand, G. Lefranc
- Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome
Acta Neuropathol Commun – 2020 Jun 24
A. Botté, J. Lainé, L. Xicota, X. Heiligenstein, G. Fontaine, A. Kasri, I. Rivals, P. Goh, O. Faklaris, J.-C. Cossec, E. Morel, A.-S. Rebillat, D. Nizetic, G. Raposo, M.-C. Potier - Auto-antibodies against type I IFNs in patients with life-threatening COVID-19
Science – 24 Sep 2020
- Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science – 24 Sep 2020 - SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family
A. Deepthi , O. Fakhoury , M. Daher , A. Gambarini , S. El-Hayek & A. Megarbane
Ophthalmic Genetics – 28 Oct 2020 - SOX11-related syndrome: report on a new case and review
V. Wakim, P. Nair, V. Delague, S. Bizzari, M.Taleb Al-Ali, C. Castro, A. Gambarini, S. El-Hayek, A. Megarbane
Clin Dysmorphol – 2020 Oct 19 - A Report on a Family with TMTC3-Related Syndrome and Review
S. Hana, D. Harthik, J. Shan, S. El Hayek, L. Chouchane and A. Megarbane
Hindawi, Case Report in Medicine – 4 November 2020
