Publications

PUBLICATIONS 2022

PUBLICATIONS 2021

• Effect of Exergaming on Physical Fitness, Functional Mobility, and Cognitive Functioning in Adults With Down Syndrome
  A. Perrot, P. Maillot, A. Le Foulon, A.S. Rebillat
  Am J Intellect Dev Disabil – 2021 Jan 1
• Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
  S. Whalen, M. Shaw, C. Mignot, D. Héron, S. Chantot Bastaraud, C. Cieuta Walti, J. Liebelt, F. Elmslie, P. Yap, J. Hurst, E. Forsythe, B. Kirmse, J. Ozmore, A. Mauro Spinelli, O. Calabrese, T. Billette de Villemeur, A. C. Tabet, J. Levy, A. Guet, M. Kossorotoff, B. Kamien, J. Morton, A. McCabe, E. Brischoux-Boucher, A. Raas-Rothschild, A. Pini, R. Carroll, J. N Hartley, Care4Rare Canada Consortium; P. Frosk, A. Slavotinek, K. Truxal, C. Jennifer, A. Dheedene, H. Cui, V. Kumar, G. Thomson, F. Riccardi, J. Gecz, L. Villard
  Eur J Hum Genet, 2021 Feb 18
• Deciphering the links between psychological stress, depression and neurocognitive decline in patients with Down syndrome
  F. Poumeaud, C. Mircher, P. J.Smith, P.-A. Faye, F. G. Sturtz
  Neurobiology of Stress, Volume 14, May 2021, 100305 – 2021 February 5
• The COVID-19 pandemic should be last orders for poor care of people with neurodevelopmental disorders
  Strydom, E. Corcoran, A.-S. Rebillat
  Cambridge University Press, 2021 March 2
• A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases
  A Salvi, C. Skrypnyk, N.Da Silva, J. Andoni Urtizberea, M. Bakhiet, C. Robert, N. Lévy, A. Megarbané, V. Delague, M. Bartoli
  Clinical Genetics, 16 March 2021
• Opportunities, barriers, and recommendations in down syndrome research
  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
  Translational Science of Rare Disease
• Efficacy and safety of methylphenidate on attention deficit hyperactivity disorder in children with Down syndrome
  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
  Journal of intellectual Disability Research, 21 February 2021
• Markers of early changes in cognition across cohorts of adults with Down syndrome at risk of Alzheimer’s disease
  J. Aschenbrenner, R. A. Baksh, B. Benejam, J. A. Beresford-Webb, A. Coppus, J. Fortea, B. L. Handen, S. Hartley, E. Head, J. Jaeger, J. Levin, S. V. Loosli, A.-S. Rebillat, S. Sacco, F. A. Schmitt, K. E. Thurlow, S. Zaman, J. Hassenstab, A. Strydom
  Alzheimer’s Dementia, 19 April 2021
• The Behavioral and Psychological Symptoms of Dementia in Down Syndrome scale (BPSD-DS II): Optimization and Further Validation
  A. Dekker, A. Ulgiati, H. Groen, V. Boxelaar, S. Sacco, S. Falquero, A. Carfi, A. di Paola, B. Benejam, S. Valldeneu, R. Fopma, M. Oosterik, M. Hermelink, G. Beugelsdijk, M. Schippers, H. Henstra, M. Scholten-Kuiper, J. Willink-Vos, L. de Ruiter, L. Willems, A. Loonstra-de Jong, A. Coppus, M. Tollenaere, J. Fortea, G. Onder, A-S Rebillat, D. Van Dam, P. De Deyn
  Journal of Alzheimer’s Disease, 4 May 2021
• Diagnostic and prognostic performance and longitudinal changes in plasma neurofilament light chain concentrations in adults with Down syndrome: a cohort study
  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
  The Lancet Neurology Vol 20, August 2021
• 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
  
• The French translation of the dementia screening questionnaire for individuals with intellectual disabilities is a sensitive tool for screening for dementia in people with Down Syndrome
  A-S Rebillat, A. Hiance Delahaye, G. Radice, S. Sacco
  Research in Developmental Disabilities – 28 August 2021
• Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrom
  A. Mégarbané, S. Hana, Hala Mégarbané, C. Castro, S. Baulande, A. Criqui, N. Roëckel-Trevisiol, C. Dagher, M. Taleb Al-Ali, J-P Desvignes, D. Mahfoud, S. El-Hayek, V. Delague
  Mol Syndromol – 31 August 2021
• The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease
  T. Rujeedawa, E. Carrillo Félez, I. C H Clare, J. Fortea, A. Strydom, A-S Rebillat, A. Coppus, J. Levin, S. H Zaman
  Journal of Clinical Medicine – 3 October 2021
• COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey
  D. Emes, A. Hüls, N. Baumer, M. Dierssen, S. Puri, L. Russell, S. L. Sherman, A. Strydom, S. Bargagna, A. Brandão, A. C. S. Costa, P. T. Feany, B. Allen Chicoine, S. Ghosh, A-R Rebillat, G. Sgandurra, D. Valentini, T. R. Rohrer, J. Levin, M. Lakhanpaul and on behalf of the Trisomy 21 Research Society COVID-19 Initiative Study Group
  Journal of Clinical Medicine, 31 October 2021
• Psychomotor development in infants and young children with Down syndrome—A prospective, repeated measure, post-hoc analysis
  S. Sacco, C. Bouis, J. Gallard, A. Pichot,, E. Blondiaux, I. Marey, N. Dorison, F. Sturtz|, C. Cieuta-Walti, A. Ravel, C. Mircher
  American Journal of medical genetics, 15 october 2021
• Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates
  E. Szenker-Ravi, T. Ott, M. Khatoo, A. Moreau de Bellaing, W. Xuan Goh, Y. Ling Chong, A. Beckers, D. Kannesan, G. Louvel, P. Anujan, V. Ravi, C. Bonnard, S. Moutton, P. Schoen, M. Fradin, E. Colin, A. Megarbane, L. Daou, G. Chehab, S. Di Filippo, C. Rooryck, J-F Deleuze, A. Boland, N. Arribard, R. Eker, S. Tohari, A. Yu-Jin Ng, M. Rio, C. Teck Lim, B. Eisenhaber, F. Eisenhaber, B. Venkatesh, J. Amiel, H. Roest Crollius, C. T. Gordon, A. Gossler, Sudipto Roy, T. Attie-Bitach, M. Blum, P. Bouvagnet  and B. Reversade.
  Nature genetics, 14 October 2021

PUBLICATIONS 2020

• 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
• 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.
• 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
• 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

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 2019PU