Publications

PUBLICATIONS 2020

• Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.. A. Mégarbané, A. Deepthi, M. Obeid, T Al-Ali M, Gambarini A., El-Hayek S.
  Am J Med Genet A. – 2020 Feb 5.
• Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
  Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A.
  Eur J Med Genet. – 30 January 2020
• CNTNAP1 Mutations and Their Clinical Presentations: New Case – Report and Systematic Review
  S. Sabbagh ,S. Antoun and A. Mégarbane
  Hindawi – 2020 Apr 13
• 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
  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
  Scientific Reports – 10 Jun 2020
• Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome
  André Mégarbané, Sayeeda Hana, Stephany El-Hayek, Alicia Gambarini, Mahmoud Taleb Al-Ali, Valérie Delague
  American Journal of medical Genetics – 02 July 2020
• Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome
  Xiao-Fei Kong, Lisa Worley, Darawan Rinchai, Vincent Bondet, Puthen Veettil Jithesh, Marie Goulet, Emilie Nonnotte, Anne Sophie Rebillat, Martine Conte, Clotilde Mircher, Nicolas Gürtler, Luyan Liu, Mélanie Migaud, Mohammed Elanbari, Tanwir Habib, Cindy S. Ma, Jacinta Bustamante, Laurent Abel, Aimé Ravel, Stanislas Lyonnet, Arnold Munnich, Darragh Duffy, Damien Chaussabel, Jean-Laurent Casanova, Stuart G Tangye, Stéphanie Boisson-Dupuis, Anne Puel
  Journal of Clinical Immunology, 22 Jun 2020
• Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome
  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
  Acta Neuropathol Commun – 2020 Jun 24
• Trisomie 21 : complications neurologiques chez l’adulte
  A.S. Rebillat, A. Hiance-Delahaye, C. Laffon, C. Mircher
  La Lettre du Neurologue • Vol. XXIV – n° 7 – septembre 2020

PUBLICATIONS 2019

• Methylomic profiling in trisomy 21 identifies cognition- and Alzheimer’s disease-related dysregulation.
  Haertle L, Müller T, Lardenoije R, Maierhofer A, Dittrich M, Riemens RJM, Stora S, Roche M, Leber M, Riedel-Heller S, Wagner M, Scherer M, Ravel A, Mircher C, Cieuta-Walti C, Durand S, van de Hove DLA, Hoffmann P, Ramirez A, Haaf T, El Hajj N, Mégarbané A.
  Clin Epigenetics. 2019 Dec 16
• Further delineation of the trappc6b disorder: report on a new family and review.
  Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A.
  J Pediatr Genet. 2019 Jul 30.
  
• Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
  Nair P, Sabbagh S, Bizzari S, Brunner F, Stora S, Al-Ali MT, Gencik M, El-Hayek S, Mégarbané A.
  Mol Syndromol. July 2019
• The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
  Mansour H, Sabbagh S, Bizzari S, El-Hayek S, Chouery E, Gambarini A, Gencik M, Mégarbané A.
  J Pediatr Genet. April 16 2019
• COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?
  Nair P, Lama M, El-Hayek S, Abou Sleymane G, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A.
  Mol Syndromol. 2019 Jan 9
• 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.
  Genet Med. Published: 08 July 2019