Collaborer avec le CRB-BioJeL pour un projet de recherche

• 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

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

Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study
The Lancet Neurology Vol 20, August 2021
M. Carmona-Iragui, D. Alcolea, I. Barroeta, L. Videla, L. Muñoz, K. L Van Pelt, F. A Schmitt, D. D Lightner, L. M Koehl, G. Jicha, S. Sacco, C. Mircher, S. E Pape, R. Hithersay, I. C H Clare, A. J Holland, G. Nübling, J. Levin, S. H Zaman, A. Strydom, A-S Rebillat, E. Head, R. Blesa, A. Lleó, J. Fortea

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