Collaborating with BioJeL on a research project
Promoting scientific research on genetic mental deficiencies
BioJeL offers the scientific community access to its collections.
Access to samples and their associated data is granted under certain conditions. Requests for collaboration are submitted to Biojel Scientific Board which validates their adequacy with its activities.
Most of the projects concern trisomy 21 and associated comorbid conditions
BioJeL is associated with several projects:
- Contribution of next-generation sequencing in pediatric practice in Lebanon. A study on 213 cases.
Molecular Genetics & Genomic Medicine, 29 August 2018.
P. Nair, S. Sabbagh, H. Mansour, A. Fawaz, G. Hmaimess, P. Noun, R. Dagher, H. Mégarbané, S. Hana, S.Alame, M.Lamaa, D. Hasbini, R.Farah, M. Rajab, S. Stora, O.El-Tourjuman, P. Abou Jaoude, G.Chalouhi, R. Sayad, A.-C. Gillart, M. Al-Ali, V. Delague, S. El-Halyek, A. 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
H. Mansour, S. Sabbagh, S. Bizzari, S. El-Hayek, E. Chouery, A. Gambarini, M. Gencik, A. 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
P. Nair, M. Lama, S. El-Hayek, G. Abou Sleymane, S. Stora, M. Obeid, M. T. Al-Ali, V. Delague, A. 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. – 23 january 2020
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. – 27 January 2020
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 – 27 March 2020
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 – 10 Jun 2020
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
Opportunities, barriers, and recommendations in down syndrome research
Translational Science of Rare Disease
J. A. Hendrix, A. Amon, L. Abbeduto, S. Agiovlasitis, T. Alsaied, H. A. Anderson, L. J. Bain, N. Baumer, A. Bhattacharyya, D. Bogunovic, K. N. Botteron, G. Capone, P. Chandan, I. Chase, B. Chicoine, C. Cieuta-Walti, L. R. DeRuisseau, S. Durand, A. Esbensen, J. Fortea, S. Gimenez, A.-C. Granholm, L. J. Hahn, E. Head, H. Hillerstrom, L. M. Jacola, M. P. Janicki, J. M. Jasien, A. R. Kamer, R. D. Kent, B. Khor, J. B. Lawrence, C. Lemonnier, A. Feldman Lewanda, W. Mobley, P. E. Moore, L. Pollak Nelson, N. M. Oreskovic, R. S. Osorio, D. Patterson, S. A. Rasmussen, R. H. Reeves, N. Roizen, S. Santoro, S. L. Sherman, N. Talib, I. E. Tapia, K. M. Walsh, S. F. Warren, A. N. White, G. William Wong and J. S. Yi
Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome
Journal of intellectual Disability Research, 21 February 2021
M. Roche, C. Mircher, J. Toulas, E. Prioux, M. Conte, A. Ravel, S. Falquero, A. Labidi, S. Stora, S. Durand, A. Mégarbané & C. Cieuta-Walti
