Publications
2024
- A homozygous frameshift variant expands the clinical spectrum of SAMD9 gene defects
Cybel Mehawej, Maroun Ibrahim, Lynn Khalife, Eliane Chouery, Setrida El Hachem, Alain Sayad, Aya El Traboulsi, Adlette Inati, Andre Megarbane
Clin Genet., February, 2024 - A Case of Leber Hereditary Optic Neuropathy Triggered by Pfizer-BioNTech Vaccine: Evidence of Pathogenesis of a Novel Mutation
Maria Rizk, Ibrahim Dunya, Roland Seif, Andre Megarbane, Ama Sadaka
J Neuroophtalmol, March, 2024 - Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier, Francois Feillet, Peter Freisinger, Maja Hempel, Anna L Khoreva, Martin W Laass, Yves Lacassie, Elke Lainka, Catherine Larson-Nath, Zhongdie Li, Patryk Lipiński, Eberhard Lurz, André Mégarbané, Susana Nobre, Giorgia Olivieri, Bianca Peters, Paolo Prontera, Lea D Schlieben, Christine M Seroogy, Cristina Sobacchi, Shigeru Suzuki, Christel Tran, Jerry Vockley, Jian-She Wang, Matias Wagner, Holger Prokisch, Sven F Garbade, Stefan Kölker, Georg F Hoffmann, Christian Staufner
Mol Genet Metab, March 14, 2024 - Adapting prescribing criteria for amyloid-targeted antibodies for adults with Down syndrome
Hampus Hillerstrom, Richard Fisher, Matthew P Janicki, Brian Chicoine, Bradley T Christian, Anna Esbensen, Lucille Esralew, Juan Fortea, Sigan Hartley, Jason Hassenstab, Seth M Keller, Sharon Krinsky-McHale, Florence Lai, Johannes Levin, Mary McCarron, Eric McDade, Anne Sophie Rebillat, Herminia Diana Rosas, Wayne Silverman, Andre Strydom, Shahid H Zaman, Henrik Zetterberg
Alzheimers Dement., May 20, 2024 - Age of Alzheimer’s disease diagnosis in people with Down syndrome and associated factors: Results from the Horizon 21 European Down syndrome consortium
Frode Kibsgaard Larsen, R Asaad Baksh, Eimear McGlinchey, Ellen Melbye Langballe, Bessy Benejam, Jessica Beresford-Webb, Mary McCarron, Antonia Coppus, Segolene Falquero, Juan Fortea, Johannes Levin, Sandra V Loosli, Ruth Mark, Anne-Sophie Rebillat, Shahid Zaman, Andre Strydom
Alzheimers Dement, May 20, 2024 - How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
Andre Megarbane, Cybel Mehawej, Daniel Mahfoud, Eliane Chouery, Koenraad Devriendt, Mariam Hijazi, Seung W Ryu, JiHye Kim, Alisdair McNeill
Eur J Med Genet., June, 2024 - CNV Analysis through Exome Sequencing Reveals a Large Duplication Involved in Sex Reversal, Neurodevelopmental Delay, Epilepsy and Optic Atrophy
Cybel Mehawej, Joy El Maalouf, Mohamad Abdelkhalik, Peter Mahfouz, Eliane Chouery, Andre Megarbane
Genes (Basel), July, 2024 - Early detection and treatment of obstructive sleep apnoea in infants with Down syndrome: a prospective, non-randomised, controlled, interventional study
Brigitte Fauroux, Silvia Sacco, Vincent Couloigner, Alessandro Amaddeo, Aimé Ravel, Emmanuelle Prioux, Jeanne Toulas, Cécile Cieuta-Walti, Hervé Walti, Romain Luscan, Ségolène Falquero, Manon Clert, Marie-Anne Caillaud, Livio De Sanctis, Sonia Khirani, Isabelle Marey, Clotilde Mircher
The Lancet Regional Health – Europe, October 2024 - POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments
Eliane Chouery, Cybel Mehawej, Rami Saade, Rana Barake, Patryk Zarecki, Catherine Gennery, Sandra Corbani, Rima Korban, Ali Hamam, Jade Nasser Eldin, Mohamad Yamout, Mazen Banna, Abdul Kader Afif Yamout, Fawaz Adhami, Andre Megarbane, Mirna Mustapha
Eur J Hum Genet., October 16, 2024 - Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation
Karim Sleiman, Souha Allam, Dany Akiki, Andre Megarbane, Jamal Bleik
Ophtalmic Genet., October 28, 2024 - Endophilin A2 Deficiency Impairs Antibody Production in Humans
Cybel Mehawej, Eliane Chouery, Roula Farah, Alia Khalil, Setrida El Hachem, Sandra Corbani, Valerie Delague, Issam Mansour, Tarek Najemdeen, Rima Korban, Wissam H Faour, Gerard Lefranc, Andre Megarbane
J Clin Immunol, November 5, 2024 - Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature Review.
Charbel Saad, Christine Aoun, Charbel Iskandar, Tony Hayek, Maroun Matar, Andre Megarbane
Case Rep Genet, November 15, 2024
2023
- Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
Cybel Mehawej, Eliane Chouery, Ghada Al Hage Chehade, Yosra Bejaoui, Daniel Mahfoud, Maya Gerges, Valérie Delague, Nady El Hajj, Andre Megarbane
Molecular Syndromology, January 17, 2023 - Down syndrome regression disorder, a case series: Clinical characterization and therapeutic approaches
Sidney Bonne, Anton Iftimovici, Clotilde Mircher, Martine Conte, Cécile Louveau, Adrien Legrand, Charlotte Danset-Alexandre, Costanza Cannarsa, Alexis Debril, Angèle Consoli, Marie-Odile Krebs, Pierre Ellul and Boris Chaumette
Frontiers in Neurosciences – 23 February 2023 - Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation
Eliane Chouery, Rim Karam, Yves Najm Mrad , Cybel Mehawej , Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud and Andre Megarbane
MDPI – 15 February 2023 - PCDH19 in Males: Are Hemizygous Variants Linked to Autism?
Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej and Andre Megarbane
MDPI, 27 February 2023 - Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells
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
Nature, 22 February 2023 - 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 1, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane
Hepatology, February 1st, 2023 - Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H
Lara El-Bazzal, Adeline Ghata, Clothilde Estève, Jihane Gadacha, Patrice Quintana, Christel Castro, Nathalie Roeckel-Trévisiol, Frédérique Lembo, Nicolas Lenfant, André Mégarbané, Jean-Paul Borg, Nicolas Lévy, Marc Bartoli, Yannick Poitelon, Pierre L Roubertoux, Valérie Delague, Nathalie Bernard-Marissal
Brain, May 2023 - Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Richard H van Jaarsveld, Jack Reill, Marie-Claire Cornips, Michael A Hadders, Emanuele Agolini, Priyanka Ahimaz, Kwame Anyane-Yeboa, Severine Audebert Bellanger, Ellen van Binsbergen, Marie-Jose van den Boogaard, Elise Brischoux-Boucher, Raymond C Caylor, Andrea Ciolfi, Ton A J van Essen, Paolo Fontana, Saskia Hopman, Maria Iascone, Margaret M Javier, Erik-Jan Kamsteeg, Jennifer Kerkhof, Jun Kido, Hyung-Goo Kim, Tjitske Kleefstra, Fortunato Lonardo, Abbe Lai, Dorit Lev, Michael A Levy, M E Suzanne Lewis, Angie Lichty, Marcel M A M Mannens, Naomichi Matsumoto, Idit Maya, Haley McConkey, Andre Megarbane, Vincent Michaud, Evelina Miele, Marcello Niceta, Antonio Novelli, Roberta Onesimo, Rolph Pfundt, Bernt Popp, Eloise Prijoles, Raissa Relator, Sylvia Redon, Dmitrijs Rots, Karen Rouault, Ken Saida, Jolanda Schieving, Marco Tartaglia, Romano Tenconi, Kevin Uguen, Nienke Verbeek, Christopher A Walsh, Keren Yosovich, Christopher J Yuskaitis, Giuseppe Zampino, Bekim Sadikovic, Mariëlle Alders, Renske Oegema
Genet Med., January, 2023 - Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Elizabeth E Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan S Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael Field, Francisco E R Laranjeira, Ana M Fortuna, Ana R Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer
Mol Psychiatry., February 28, 2023 - BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
Am J Med Genet A., April, 2023 - Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies
Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage
Orphanet Journal of Rare Diseases, January 14, 2023 - Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy
Abeer Qannan, Yosra Bejaoui, Mahmoud Izadi, Noha A Yousri, Aleem Razzaq, Colette Christiansen, George M Martin, Jordana T Bell, Steve Horvath, Junko Oshima, Andre Megarbane, Johan Ericsson, Ehsan Pourkarimi, Nady El Hajj
Hum Mol Genet., May 18, 2023 - The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Eur J Hum Genet., April 31, 2023 - Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene
Joelle El Hakim, Cybel Mehawej, Eliane Chouery, Andre Megarbane, Jinia El-Feghal, Jinane El Khoury
Pediatr Dermatol., Sept-October, 2023 - POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment
Cybel Mehawej, Eliane Chouery, Shirine Azar-Atallah, Wassim Shebaby, Valerie Delague, Issam Mansour, Mirna Mustapha, Gerard Lefranc, Andre Megarbane
Clin Immunol., June, 2023 - Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde , Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot , Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Front Genet., March, 2023 - Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society
Eric D Hamlett, Lisi Flores-Aguilar, Benjamin Handen, Marie-Claude Potier, Ann-Charlotte Granholm, Stephanie Sherman, Victoria Puig, Jonathan D Santoro, María Carmona-Iragui, Anne-Sophie Rebillat, Elizabeth Head, André Strydom, Jorge Busciglio
Mol Syndromol, April 2023 - The global challenges of the long COVID-19 in adults and children
Alfonso J Rodriguez-Morales, María Camila Lopez-Echeverri, Maria Fernanda Perez-Raga, Valentina Quintero-Romero, Valentina Valencia-Gallego, Nicolas Galindo-Herrera, Santiago López-Alzate, Juan Diego Sánchez-Vinasco, Juan José Gutiérrez-Vargas, Percy Mayta-Tristan, Rola Husni, Rima Moghnieh, Joseph Stephan, Wissam Faour, Samah Tawil, Hanane Barakat, Toufic Chaaban, Andre Megarbane, Youssef Rizk, Rania Sakr, Juan Pablo Escalera-Antezana, Lucia E Alvarado-Arnez, D Katterine Bonilla-Aldana, German Camacho-Moreno, Henry Mendoza, Ivan Arturo Rodriguez-Sabogal, Jose Millán-Oñate, Gustavo Lopardo, Alexandre Naime Barbosa, Sergio Cimerman, Tânia do Socorro Souza Chaves, Tomas Orduna, Susana Lloveras, Andrea G Rodriguez-Morales, Monica Thormann, Patricia Gabriela Zambrano, Clevy Perez, Nancy Sandoval, Lysien Zambrano, Carlos A Alvarez-Moreno, Enrique Chacon-Cruz, Wilmer E Villamil-Gomez, Vicente Benites-Zapata, Eduardo Savio-Larriera, Jaime A Cardona-Ospina, Alejandro Risquez, David A Forero-Peña, Andrés F Henao-Martínez, Ranjit Sah, Joshuan J Barboza, Darwin A León-Figueroa, Jaime David Acosta-España, Carmen María Carrero-Gonzalez, Jaffar A Al-Tawfiq, Ali A Rabaan, Hakan Leblebicioglu, Jose A Gonzales-Zamora, Rolando Ulloa-Gutiérrez
Travel Med Infect Dis., July, 2023 - Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Long Guo, Smrithi Salian, Jing-Yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-Min Zhang, Zhen-Jie Wei, Irina Hüning, Theresa Brunet, Hirofumi Ohashi, Molly F Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Gökhan Yigit, Takahiro Yamada, Gen Nishimura, K Mark Ansel, Bernd Wollnik, Martin Hrabě de Angelis, André Mégarbané, Jill A Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M Campeau
Am J Hum Genet., July 6, 2023 - Over‐expression of Dyrk1A affects bleeding by modulating plasma fibronectin and fibrinogen level in mice
Guillaume Postic, Jean Solarz, Cécile Loubière, Janany Kandiah, Jaysen Sawmynaden, Frederic Adam, Marie Vilaire, Thibaut Léger, Jean‐Michel Camadro, Daniella Balduino Victorino, Marie‐Claude Potier, Eric Bun, Gautier Moroy, Alexandre Kauskot, Olivier Christophe, Nathalie Janel
J Cell Mol Med., July, 2023 - DNA methylation profiling in Trisomy 21 females with and without breast cancer
Yosra Bejaoui, Sara Alresheq, Sophie Durand, Marie Vilaire-Meunier, Louise Maillebouis, Ayman Al Haj Zen, André Mégarbané, Nady El Hajj
Front Oncol, July, 2023 - CHAMP1-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane
Genes (Basel)., July 28, 2023 - Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization
Yosra Bejaoui, Fathima Humaira Amanullah, Mohamad Saad, Sara Taleb, Martina Bradic, Andre Megarbane, Ali Ait Hssain, Charbel Abi Khalil, Nady El Hajj
Clin Epigenetics., November 28, 2023
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 - Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.
Bos R, Rihan K, Quintana P, El-Bazzal L, Bernard-Marissal N, Da Silva N, Jabbour R, Mégarbané A, Bartoli M, Brocard F, Delague V.
Neurobiol Dis. 2022 Mar - Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
Rameh G, Megarbane A, Jalbout L, Snaifer E, Saliba S, Nassar A, Chalouhi G.
Prenat Diagn. 2022 May - 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 - Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Szenker-Ravi E, Ott T, Khatoo M, Moreau de Bellaing A, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B.
Nat Genet. 2022 Jan / Erratum in: Nat Genet. 2022 Jun - 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 - Psychomotor development in infants and young children with Down syndrome-A prospective, repeated measure, post-hoc analysis.
Sacco S, Bouis C, Gallard J, Pichot A, Blondiaux E, Marey I, Dorison N, Sturtz F, Cieuta-Walti C, Ravel A, Mircher C.
Am J Med Genet A. 2022 Mar - Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1.
Bos R, Rihan K, Quintana P, El-Bazzal L, Bernard-Marissal N, Da Silva N, Jabbour R, Mégarbané A, Bartoli M, Brocard F, Delague V.
Neurobiol Dis. 2022 Mar - 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 - Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.
Laquerriere A, Jaber D, Abiusi E, Maluenda J, Mejlachowicz D, Vivanti A, Dieterich K, Stoeva R, Quevarec L, Nolent F, Biancalana V, Latour P, Sternberg D, Capri Y, Verloes A, Bessieres B, Loeuillet L, Attie-Bitach T, Martinovic J, Blesson S, Petit F, Beneteau C, Whalen S, Marguet F, Bouligand J, Héron D, Viot G, Amiel J, Amram D, Bellesme C, Bucourt M, Faivre L, Jouk PS, Khung S, Sigaudy S, Delezoide AL, Goldenberg A, Jacquemont ML, Lambert L, Layet V, Lyonnet S, Munnich A, Van Maldergem L, Piard J, Guimiot F, Landrieu P, Letard P, Pelluard F, Perrin L, Saint-Frison MH, Topaloglu H, Trestard L, Vincent-Delorme C, Amthor H, Barnerias C, Benachi A, Bieth E, Boucher E, Cormier-Daire V, Delahaye-Duriez A, Desguerre I, Eymard B, Francannet C, Grotto S, Lacombe D, Laffargue F, Legendre M, Martin-Coignard D, Mégarbané A, Mercier S, Nizon M, Rigonnot L, Prieur F, Quélin C, Ranjatoelina-Randrianaivo H, Resta N, Toutain A, Verhelst H, Vincent M, Colin E, Fallet-Bianco C, Granier M, Grigorescu R, Saada J, Gonzales M, Guiochon-Mantel A, Bessereau JL, Tawk M, Gut I, Gitiaux C, Melki J.
J Med Genet. 2022 Jun - 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 - Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey
Halder Pinku, Anke Hüls, Patrick T Feany, Nicole Baumer, Mara Dierssen, Stefania Bargagna, Alberto Cs Costa, Brian A Chicoine, Anne-Sophie Rebillat, Giuseppina Sgandurra, Diletta Valentini, R Tilman Rohrer, Johannes Levin, Monica Lakhanpaul, Angelo Carfì, Stephanie L Sherman, Andre Strydom, Sujay Ghosh, Trisomy 21 Research Society COVID-19 Initiative Study Group
J Glob Health, 2022 Aug 8 - A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy.
M’Kacher R, Miguet M, Maillard PY, Colicchio B, Scheidecker S, Najar W, Arnoux M, Oudrhiri N, Borie C, Biehler M, Plesch A, Heidingsfelder L, Bennaceur-Griscelli A, Dieterlen A, Voisin P, Junker S, Carde P, Jeandidier E.
Genes (Basel). 2022 Sep - 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 - Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M.
Epilepsia. 2022 Oct - 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 - Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
van der Laan L, Rooney K, Alders M, Relator R, McConkey H, Kerkhof J, Levy MA, Lauffer P, Aerden M, Theunis M, Legius E, Tedder ML, Vissers LELM, Koene S, Ruivenkamp C, Hoffer MJV, Wieczorek D, Bramswig NC, Herget T, González VL, Santos-Simarro F, Tørring PM, Denomme-Pichon AS, Isidor B, Keren B, Julia S, Schaefer E, Francannet C, Maillard PY, Misra-Isrie M, Van Esch H, Mannens MMAM, Sadikovic B, van Haelst MM, Henneman P.
Int J Mol Sci. 2022 Nov - BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
American Journal of medical genetics, 24 December 2022
Eliane Chouery, Elio Tahan, Rim Karam, Jana Pharoun, Cybel Mehawej, Andre Megarbane
2021
- Removal of Drugs for Alzheimer’s Disease from the List of Reimbursable Drugs in France: Analysis of Change in Drug Use, Disease Management and Cognition Using the National Alzheimer Data Bank (BNA).
Herr M, Ankri J, Diard C, Hiance-Delahaye A.
Drugs Aging. 2021 Jan - 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 - Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.
Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, Baujat G, Phan G, Bonnière M, Le Bourgeois M, Khraiche D, Pejin Z, Bonnet D, Delacourt C, Cormier-Daire V.
Genet Med. 2021 Feb;23 - 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 - SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family
Deepthi A, Fakhoury O, Daher M, Gambarini A, El-Hayek S, Megarbane A.
Ophthalmic Genet. 2021 Feb 4 - 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 - Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Mary L, Nourisson E, Feger C, Laugel V, Chaigne D, Keren B, Afenjar A, Billette T, Trost D, Cieuta-Walti C, Gerard B, Piton A, Schaefer E.
Am J Med Genet A. 2021 Jun 18 - 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 - Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene.
Souissi A, Ben Said M, Frikha F, Elloumi I, Masmoudi S, Megarbane A.
Genet Test Mol Biomarkers. 2021 Aug - 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 - Consensus Middle East and North Africa Registry on Inborn Errors of Immunity.
Aghamohammadi A, Rezaei N, Yazdani R, Delavari S, Kutukculer N, Topyildiz E, Ozen A, Baris S, Karakoc-Aydiner E, Kilic SS, Kose H, Gulez N, Genel F, Reisli I, Djenouhat K, Tahiat A, Boukari R, Ladj S, Belbouab R, Ferhani Y, Belaid B, Djidjik R, Kechout N, Attal N, Saidani K, Barbouche R, Bousfiha A, Sobh A, Rizk R, Elnagdy MH, Al-Ahmed M, Al-Tamemi S, Nasrullayeva G, Adeli M, Al-Nesf M, Hassen A, Mehawej C, Irani C, Megarbane A, Quinn J; MENA-I. E. I. Study Group; Maródi L, Modell V, Modell F, Al-Herz W, Geha RS, Abolhassani H.
J Clin Immunol. 2021 Aug - Genome sequencing in families with congenital limb malformations.
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M.
Hum Genet. 2021 Aug - Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S, Nair P, Deepthi A, Hana S, Al-Ali MT, Megarbané A, El-Hayek S.
Genes (Basel). 2021 Sep - 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 - Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
Thouvenin B, Soupre V, Caillaud MA, Henry-Mestelan C, Chalouhi C, Houssamo B, Chapuis C, Lind K, Royer A, Vegas N, Amiel J, Couly G, Picard A, Vaivre-Douret L, Abadie V.
Orphanet J Rare Dis. 2021 Oct - Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.
Hajjar N, Kabbani M, Tannous R, Lebre AS, Megarbane A, Minari A, El Sayed F.
Adv Skin Wound Care. 2021 Nov - Factors Associated with Potentially Inappropriate Transfer to the Emergency Department among Nursing Home Residents.
Rolland Y, Mathieu C, Tavassoli N, Berard E, Laffon de Mazières C, Hermabessière S, Houles M, Perrin A, Krams T, Qassemi S, Cambon A, Magre E, Cantet C, Charpentier S, Lauque D, Azema O, Chicoulaa B, Oustric S, McCambridge C, Gombault-Datzenko E, Molinier L, Costa N, De Souto Barreto P.
J Am Med Dir Assoc. 2021 Dec 22
2020
- 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. 2020 Jan 22 - Feeding problems and gastrointestinal diseases in Down syndrome
Ravel A, Mircher C, Rebillat AS, Cieuta-Walti C, Megarbane A.
Arch Pediatr. 2020 Jan;27 - 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. - Systematic Dementia Screening by Multidisciplinary Team Meetings in Nursing Homes for Reducing Emergency Department Transfers: The IDEM Cluster Randomized Clinical Trial.
Rolland Y, Tavassoli N, de Souto Barreto P, Perrin A, Laffon de Mazières C, Rapp T, Hermabessière S, Tournay E, Vellas B, Andrieu S.
JAMA Netw Open. 2020 Feb 5 - Molecular Rescue of Dyrk1A Overexpression Alterations in Mice with Fontup® Dietary Supplement: Role of Green Tea Catechins.
Gu Y, Moroy G, Paul JL, Rebillat AS, Dierssen M, de la Torre R, Cieuta-Walti C, Dairou J, Janel N.
Int J Mol Sci. 2020 Feb 19 - Turner syndrome in diverse populations
Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N, Sirisena ND, Dissanayake VHW, Paththinige CS, Aravena T, Nampoothiri S, Yesodharan D, Girisha KM, Patil SJ, Jamuar SS, Goh JC, Utari A, Sihombing N, Mishra R, Chitrakar NS, Iriele BC, Lulseged E, Megarbane A, Uwineza A, Oyenusi EE, Olopade OB, Fasanmade OA, Duenas-Roque MM, Thong MK, Tung JYL, Mok GTK, Fleischer N, Rwegerera GM, de Herreros MB, Watts J, Fieggen K, Huckstadt V, Moresco A, Obregon MG, Hussen DF, Ashaat NA, Ashaat EA, Chung BHY, Badoe E, Faradz SMH, El Ruby MO, Shotelersuk V, Wonkam A, Ekure EN, Phadke SR, Richieri-Costa A, Muenke M.
Am J Med Genet A. 2020 Feb 18 - A new paradigm for lung-conservative total liquid ventilation.
Kohlhauer M, Boissady E, Lidouren F, de Rochefort L, Nadeau M, Rambaud J, Hutin A, Dubuisson RM, Guillot G, Pey P, Bruneval P, Fortin-Pellerin E, Sage M, Walti H, Cariou A, Ricard JD, Berdeaux A, Mongardon N, Ghaleh B, Micheau P, Tissier R.
EBioMedicine. 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 - Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.
Umar M, Megarbane A, Shan J, Syed N, Chouery E, Aliyev E, Jithesh P, Temanni R, Mansour I, Chouchane L, Ismail Chouchane A.
J Cell Mol Med. 24 Oct 2024 - 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 - Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Le Caignec C, Pichon O, Briand A, de Courtivron B, Bonnard C, Lindenbaum P, Redon R, Schluth-Bolard C, Diguet F, Rollat-Farnier PA, Sanchez-Castro M, Vuillaume ML, Sanlaville D, Duboule D, Mégarbané A, Toutain A.
Eur J Hum Genet. 2020 Mar 28
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