Publications
PUBLICATIONS 2022
- A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature
Eliane Chouery, Cybel Mehawej, Andre Megarbane
Neurogenetics, 18 January 2022 - DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome
Y. Bejaoui, A. Razzaq, N. A Yousri, J. Oshima, A. Megarbane, A. Qannan, R. Potabattula, T. Alam, G. M Martin, H. F Horn, T. Haaf, S. Horvath, N. El Hajj
Aging Cell, 21 Feb 2022 - A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA A-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome
Celia Goeldner, Priya S Kishnani, Brian G Skotko, Julian Lirio Casero, Joerg F Hipp, Michael Derks, Maria-Clemencia Hernandez, Omar Khwaja, Sian Lennon-Chrimes, Jana Noeldeke, Sabine Pellicer, Lisa Squassante, Jeannie Visootsak, Christoph Wandel, Paulo Fontoura, Xavier Liogier d’Ardhuy, Clematis Study GroupJ
Neurodev Disord, 2022 Feb 5 - COVID-19 Vaccination of Individuals with Down Syndrome—Data from the Trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to Be Vaccinated
Anke Hüls, Patrick T. Feany, Sophia Isabella Zisman, Alberto C. S. Costa, Mara Dierssen, Robert Balogh, Stefania Bargagna, Nicole T. Baumer, Ana Claudia Brandão, Angelo Carfi, Brian Allen Chicoine, Sujay Ghosh, Monica Lakhanpaul, Johannes Levin, Yona Lunsky, Coral Manso Eitan Okun, Diego Real de Asua, Anne-Sophie Rebillat, Tilman R. Rohrer
MDPI, 29 March 2022 - 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
Manon Moreau, Maria Carmona-Iragui, Miren Altuna, Lorraine Dalzon, Isabel Barroeta, Marie Vilaire, Sophie Durand, Juan Fortea, Anne-Sophie Rebillat, Nathalie Janel
Biomedicines, 10 June 2022 - Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review
Eliane Chouery, Cybel Mehawej, Sandra Sabbagh, Jamal Bleik, Andre Megarbane
European Journal of neurology, 31 May 2022 - Modified cued recall test in the French population with Down syndrome: A retrospective medical records analysis
S. Sacco, S. Falquero, C. Bouis, M. Akkaya, J. Gallard, A. Pichot, G. Radice, F. Bazin, F. Montestruc, A. Hiance-Delahaye, A.-S. Rebillat
Journal of Intellectual Disabiliy Research, 21 June 2022 - Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity
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, Cécile Voisset, Frédéric Bihel, Gaëlle Friocourt
Int J Mol Sci, 2022 Jun 17 - A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem , Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J Andoni Urtizberea
J Neuromuscul Dis, 2022 Jan 4 - Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities
Salem Alawbathani, Ana Westenberger, Natalia Ordonez-Herrera, Mariam Al-Hilali, Homoud Al Hebby, Fahad Alabbas, Amal M Alhashem, Ghaleb Elyamany, André Megarbane, Melis Kose, Nadia Alhashmi, Nashat Al Sukaiti, Mohammed Al-Raqad, Samah Al-Tawalbeh, Omar Abu Adas Blanco, Fadiah Alkhattabi, Danielle Sng, Ruslan Al-Ali, Suliman Khan, Hasan Tawamie, Kornelia Tripolszki, Vasiliki Karageorgou, Roberta Trunzo, Fuad Al Mutairi, Bruno Reversade, Peter Bauer, Aida M Bertoli-Avella
Clin Genet, 2022 Feb - Identification of 8-Hydroxyquinoline Derivatives That Decrease Cystathionine Beta Synthase (CBS) Activity
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, Cécile Voisset, Frédéric Bihel and Gaëlle Friocourt
International Journal of Molecular Sciences, 17 June 2022 - Three Complex alleles associated with N1303K mutation and their molecular consequences
Raëd Farhat, Ayman El-Seedy, Marie-Claude Pasquet, Sandra Corbani, André Megarbané, Alain Kitzis, Véronique Ladeveze
Cell Mol Biol, 2022 Apr 30 - 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)
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
Genetics in Medicine. 2022 Aug 10 - Chr21 protein–protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease
Julia Viard, Yann Loe-Mie, Rachel Daudin, Malik Khelfaoui, Christine Plancon, Anne Boland, Francisco Tejedor, Richard L Huganir, Eunjoon Kim, Makoto Kinoshita, Guofa Liu, Volker Haucke, Thomas Moncion, Eugene Yu, Valérie Hindie, Henri Bléhaut, Clotilde Mircher, Yann Herault, Jean-François Deleuze, Jean-Christophe Rain, Michel Simonneau, Aude-Marie Lepagnol-Bestel
Life Science Alliance, 1 August 2022 - Genetic predisposition to porto-sinusoidal vascular disorder: A functional genomic-based, multigenerational family study
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane
Hepatology, 13 August 2022 - Genetic Testing to Inform Epilepsy Treatment Management from an International Study of Clinical Practice
JAMA Neurol, 2022 Oct 31 - NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist?
Cybel Mehawej, Eliane Chouery, Ramy Ghabril, Sima Tokajian, Andre Megarbane
Nephron. 2022 Oct 10 - Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Genet Med, 2022 Nov 1 - Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Molecular Psychiatry, 16 november 2022
PUBLICATIONS 2021
- SOX11-related syndrome: report on a new case and review
V. Wakim, P. Nair, V. Delague, S. Bizzari, M.T. Al-Ali, C. Castro, A. Gambarini, S. El-Hayek, A. Megarbane
Clinical Dysmorphology, 2021 Jan - 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 - Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey
A. Hüls, A. C S Costa, M. Dierssen, R A. Baksh, S. Bargagna, N. T Baumer, A. C. Brandão, A. Carfi, M. Carmona-Iragui, B. Allen Chicoine, S. Ghosh, M. Lakhanpaul, C. Manso, M-A Mayer, M. Del Carmen Ortega, D. Real de Asua, A-S Rebillat, L. Ashley Russell, G. Sgandurra, D. Valentini, S. L Sherman, A. Strydom, T21RS COVID-19 Initiative
EClinicalMedicine, 2021 Mar 3 - 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 - Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes
R. A Farah, P. Nair, J. Koueik, T. Yammine, H. Khalifeh, R. Korban, A. Collet, C. Khayat, C. Dubois-Denghien, E. Chouery, M. Blanluet, S. El-Hayek, D. Stoppa-Lyonnet, A. Megarbane
J Pediatr Hematol Oncol, 2021 Jul 1 - 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 2019
