DNA methylation profiling in Trisomy 21 females with and without breast cancer by Yosra Bejaoui, Sara Alresheq, Sophie Durand, Marie Vilaire-Meunier, Louise Maillebouis, Ayman Al Haj Zen, André Mégarbané, André Mégarbané, Nady El Hajj, Nady El Hajj

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<i>PCDH19</i> in Males: Are Hemizygous Variants Linked to Autism? by Eliane Chouery, Jana Makhlouf, Wassim Daoud Khatoun, Cybel Mehawej, Andre Megarbane

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<i>CHAMP1</i>-Related Disorder: Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature by Sarah Abi Raad, Vanda Yazbeck Karam, Eliane Chouery, Cybel Mehawej, Andre Megarbane

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Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review by Fadi El Karak, Elie El Rassy, Samer Tabchi, Eliane Chouery, Andre Megarbane, Joseph Kattan

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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders by Sami Bizzari, Pratibha Nair, Asha Deepthi, Sayeeda Hana, Mahmoud Taleb Al-Ali, André Megarbané, Stephany El-Hayek

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Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. by Marie-Elisabeth Brun, Erica Lana, Isabelle Rivals, Gérard Lefranc, Pierre Sarda, Mireille Claustres, André Mégarbané, Albertina De Sario

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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East by Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Walaa Alshuaibi, Hicham Mansour, Annemieke Aartsma-Rus, André Mégarbané

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Spondyloocular Syndrome: A Report of an Additional Family and Phenotypic Spectrum Delineation by Eliane Chouery, Rim Karam, Yves Najm Mrad, Cybel Mehawej, Nahia Dib El Jalbout, Jamal Bleik, Daniel Mahfoud, Andre Megarbane

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A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Mi... by Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet

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Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization by Yosra Bejaoui, Fathima Humaira Amanullah, Mohamad Saad, Sara Taleb, Martina Bradic, Andre Megarbane, Ali Ait Hssain, Charbel Abi Khalil, Nady El Hajj

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Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 by Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague

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Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3 by Eliane Chouery, Sandra Corbani, Jaleleddine Dahmen, Leila Zouari, Moez Gribaa, Nadia Leban, Jemni Ben Chibani, Gérard Lefranc, Ali Saad, Amel Haj Khelil, Andoni Urtizberea, André Mégarbané

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Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer by André Mégarbané, David Piquemal, Anne-Sophie Rebillat, Samantha Stora, Fabien Pierrat, Roman Bruno, Florian Noguier, Clotilde Mircher, Aimé Ravel, Marie Vilaire-Meunier, Sophie Durand, Gérard Lefranc

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The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. by Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané

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Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways. by Clémentine Ripoll, Isabelle Rivals, Emilie Ait Yahya-Graison, Luce Dauphinot, Evelyne Paly, Clothilde Mircher, Aimé Ravel, Yann Grattau, Henri Bléhaut, André Mégarbane, Guy Dembour, Bénédicte de Fréminville, Renaud Touraine, Nicole Créau, Marie Claude Potier, Jean Maurice Delabar

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New chimeric RNAs in acute myeloid leukemia [version 2; referees: 2 approved] by Florence Rufflé, Jerome Audoux, Anthony Boureux, Sacha Beaumeunier, Jean-Baptiste Gaillard, Elias Bou Samra, Andre Megarbane, Bruno Cassinat, Christine Chomienne, Ronnie Alves, Sebastien Riquier, Nicolas Gilbert, Jean-Marc Lemaitre, Delphine Bacq-Daian, Anne Laure Bougé, Nicolas Philippe, Therese Commes

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The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population by Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour, Malek Baassiri, Rawane Dagher, David Breich, André Mégarbané, Jean Pierre Desvignes, Valérie Delague, Cybel Mehawej, Eliane Chouery

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Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. by Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

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Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. by Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick

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The global challenges of the long COVID-19 in adults and children by 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

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