Collaborating with BioJeL on a research project

• 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
• Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths
  Science Immunology – 19 August 2021

DYRK1A and activity-dependent neuroprotective protein comparative diagnosis interest in cerebrospinal fluid and plasma in the context of Alzheimer-related cognitive impairment in Down syndrome patients
Biomedicines, 10 June 2022
Manon Moreau, Maria Carmona-Iragui, Miren Altuna, Lorraine Dalzon, Isabel Barroeta, Marie Vilaire, Sophie Durand, Juan Fortea, Anne-Sophie Rebillat, Nathalie Janel

Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity
International Journal of Molecular Sciences, 17 June 2022
Pierre Conan, Alice Léon, Mathilde Gourdel, Claire Rollet, Loubna Chaïr, Noéline Caroff, Nelig Le Goux, Catherine Le Jossic-Corcos, Maha Sinane, Lucile Gentile, Louise Maillebouis, Nadège Loaëc, Jennifer Martin, Marie Vilaire, Laurent Corcos, Olivier Mignen, Mikael Croyal 2, Cécile Voisset, Frédéric Bihel and Gaëlle Friocourt

Safety and preliminary efficacy on cognitive performance and adaptive functionality of epigallocatechin gallate (EGCG) in children with Down syndrome. A randomized phase Ib clinical trial (PERSEUS study)
Genetics in Medicine. 2022 Aug 10
Cécile Cieuta-Walti, Aida Cuenca-Royo, Klaus Langohr, Claire Rakic, Ma Ángeles López-Vílchez, Julián Lirio, Domingo González-Lamuño Leguina, Teresa Bermejo González, Jordi García García, Maria Rimblas Roure, Ana Aldea-Perona, Laura Forcano, Maria Gomis-Gonzalez, Sebastià Videla Cés, Florence Lacaille, Aimé Ravel, Clotilde Mircher, Hervé Walti, Nathalie Janel, Julien Dairou, Marilyne Lévy, Sophie Durand, Mara Dierssen, Silvia Sacco, Rafael de la Torre Fornell, PERSEUS Study Group

• Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells
  Nature, 22 February 2023
  Louise Malle, Roosheel S. Patel, Marta Martin-Fernandez , O’Jay Stewart, Quentin Philippot, Sofija Buta, Ashley Richardson, Vanessa Barcessat , Justin Taft, Paul Bastard, Julie Samuels , Clotilde Mircher, Anne-Sophie Rebillat, Louise Maillebouis, Marie Vilaire-Meunier, Kevin Tuballes, Brad R. Rosenberg, Rebecca Trachtman, Jean-Laurent Casanova, Luigi D. Notarangelo, Sacha Gnjatic, Douglas Bush & Dusan Bogunovic