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    Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders by Kaiyrzhanov, Rauan, Rad, Aboulfazl, Lin, Sheng-Jia, Bertoli-Avella, Aida, Kallemeijn, Wouter W, Godwin, Annie, Zaki, Maha S, Huang, Kevin, Lau, Tracy, Petree, Cassidy, Efthymiou, Stephanie, Karimiani, Ehsan Ghayoor, Hempel, Maja, Normand, Elizabeth A, Rudnik-Schöneborn, Sabine, Schatz, Ulrich A, Baggelaar, Marc P, Ilyas, Muhammad, Sultan, Tipu, Alvi, Javeria Raza, Ganieva, Manizha, Fowler, Ben, Aanicai, Ruxandra, Tayfun, Gulsen Akay, Al Saman, Abdulaziz, Alswaid, Abdulrahman, Amiri, Nafise, Asilova, Nilufar, Shotelersuk, Vorasuk, Yeetong, Patra, Azam, Matloob, Babaei, Meisam, Monajemi, Gholamreza Bahrami, Mohammadi, Pouria, Samie, Saeed, Banu, Selina Husna, Pinto Basto, Jorge, Kortüm, Fanny, Bauer, Mislen, Bauer, Peter, Beetz, Christian, Garshasbi, Masoud, Issa, Awatif Hameed, Eyaid, Wafaa, Ahmed, Hind, Hashemi, Narges, Hassanpour, Kazem, Herman, Isabella, Ibrohimov, Sherozjon, Abdul-Majeed, Ban A, Imdad, Maria, Isrofilov, Maksudjon, Kaiyal, Qassem, Khan, Suliman, Kirmse, Brian, Koster, Janet, Lourenço, Charles Marques, Mitani, Tadahiro, Moldovan, Oana, Murphy, David, Najafi, Maryam, Pehlivan, Davut, Rocha, Maria Eugenia, Salpietro, Vincenzo, Schmidts, Miriam, Shalata, Adel, Mahroum, Mohammad, Talbeya, Jawabreh Kassem, Taylor, Robert W, Vazquez, Dayana, Vetro, Annalisa, Waterham, Hans R, Zaman, Mashaya, Schrader, Tina A, Chung, Wendy K, Guerrini, Renzo, Lupski, James R, Gleeson, Joseph, Suri, Mohnish, Jamshidi, Yalda, Bhatia, Kailash P, Vona, Barbara, Schrader, Michael, Severino, Mariasavina, Guille, Matthew, Tate, Edward W, Varshney, Gaurav K, Houlden, Henry, Maroofian, Reza

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    Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders by Maroofian, Reza, Kaiyrzhanov, Rauan, Cali, Elisa, Zamani, Mina, Zaki, Maha S, Ferla, Matteo, Tortora, Domenico, Sadeghian, Saeid, Saadi, Saadia Maryam, Abdullah, Uzma, Karimiani, Ehsan Ghayoor, Efthymiou, Stephanie, Yeşil, Gözde, Alavi, Shahryar, Al Shamsi, Aisha M, Tajsharghi, Homa, Abdel-Hamid, Mohamed S, Saadi, Nebal Waill, Al Mutairi, Fuad, Alabdi, Lama, Beetz, Christian, Ali, Zafar, Toosi, Mehran Beiraghi, Rudnik-Schöneborn, Sabine, Babaei, Meisam, Isohanni, Pirjo, Muhammad, Jameel, Khan, Sheraz, Al Shalan, Maha, Hickey, Scott E, Marom, Daphna, Elhanan, Emil, Kurian, Manju A, Marafi, Dana, Saberi, Alihossein, Hamid, Mohammad, Spaull, Robert, Meng, Linyan, Lalani, Seema, Maqbool, Shazia, Rahman, Fatima, Seeger, Jürgen, Palculict, Timothy Blake, Lau, Tracy, Murphy, David, Mencacci, Niccolo Emanuele, Steindl, Katharina, Begemann, Anais, Rauch, Anita, Akbas, Sinan, Aslanger, Ayça Dilruba, Salpietro, Vincenzo, Yousaf, Hammad, Ben-Shachar, Shay, Ejeskär, Katarina, Al Aqeel, Aida I, High, Frances A, Armstrong-Javors, Amy E, Zahraei, Seyed Mohammadsaleh, Seifi, Tahereh, Zeighami, Jawaher, Shariati, Gholamreza, Sedaghat, Alireza, Asl, Samaneh Noroozi, Shahrooei, Mohmmad, Zifarelli, Giovanni, Burglen, Lydie, Ravelli, Claudia, Zschocke, Johannes, Schatz, Ulrich A, Ghavideldarestani, Maryam, Kamel, Walaa A, Van Esch, Hilde, Hackenberg, Annette, Taylor, Jenny C, Al-Gazali, Lihadh, Bauer, Peter, Gleeson, Joseph J, Alkuraya, Fowzan Sami, Lupski, James R, Galehdari, Hamid, Azizimalamiri, Reza, Chung, Wendy K, Baig, Shahid Mahmood, Houlden, Henry, Severino, Mariasavina

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    Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy by Banks, Emily, Francis, Vincent, Lin, Sheng-Jia, Kharfallah, Fares, Fonov, Vladimir, Lévesque, Maxime, Han, Chanshuai, Kulasekaran, Gopinath, Tuznik, Marius, Bayati, Armin, Al-Khater, Reem, Alkuraya, Fowzan S., Argyriou, Loukas, Babaei, Meisam, Bahlo, Melanie, Bakhshoodeh, Behnoosh, Barr, Eileen, Bartik, Lauren, Bassiony, Mahmoud, Bertrand, Miriam, Braun, Dominique, Buchert, Rebecca, Budetta, Mauro, Cadieux-Dion, Maxime, Calame, Daniel G., Cope, Heidi, Cushing, Donna, Efthymiou, Stephanie, Elmaksoud, Marwa Abd, El Said, Huda G., Froukh, Tawfiq, Gill, Harinder K., Gleeson, Joseph G., Gogoll, Laura, Goh, Elaine S.-Y., Gowda, Vykuntaraju K., Haack, Tobias B., Hashem, Mais O., Hauser, Stefan, Hoffman, Trevor L., Hogue, Jacob S., Hosokawa, Akimoto, Houlden, Henry, Huang, Kevin, Huynh, Stephanie, Karimiani, Ehsan G., Kaulfuß, Silke, Korenke, G. Christoph, Kritzer, Amy, Lee, Hane, Lupski, James R., Marco, Elysa J., McWalter, Kirsty, Minassian, Arakel, Minassian, Berge A., Murphy, David, Neira-Fresneda, Juanita, Northrup, Hope, Nyaga, Denis M., Oehl-Jaschkowitz, Barbara, Osmond, Matthew, Person, Richard, Pehlivan, Davut, Petree, Cassidy, Sadleir, Lynette G., Saunders, Carol, Schoels, Ludger, Shashi, Vandana, Spillmann, Rebecca C., Srinivasan, Varunvenkat M., Torbati, Paria N., Tos, Tulay, Zaki, Maha S., Zhou, Dihong, Zweier, Christiane, Trempe, Jean-François, Durcan, Thomas M., Gan-Or, Ziv, Avoli, Massimo, Alves, Cesar, Varshney, Gaurav K., Maroofian, Reza, Rudko, David A., McPherson, Peter S.

    Published in Nature communications
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    Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome by Salpietro, Vincenzo, Maroofian, Reza, Wangen, Jamie, Ciolfi, Andrea, Barresi, Sabina, Efthymiou, Stephanie, Aughey, Gabriel N., Al Mutairi, Fuad, Accogli, Andrea, Zara, Federico, Tariq, Huma, Rehman, Khalil Ur, Abd Elmaksoud, Marwa, El Said, Huda G., Al Shalan, Maha, Khang, Rin, Elbendary, Hasnaa M., Marinakis, Nikolaos M., Traeger-Synodinos, Joanne, Ververi, Athina, Sourmpi, Mara, Khadivi Zand, Farhad, Beiraghi Toosi, Mehran, Hannah, Michael G., Bertini, Enrico, Aguennouz, Mhammed, Groppa, Stanislav, Kathom, Hadil, Tincheva, Radka, Verrotti, Alberto, Macaya, Alfons, Garavaglia, Barbara, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Z., Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Rana, Nuzhat N., Atawneh, Osama, Zuccotti, Gian V., Marseglia, Gian L., Shaikh, Farooq, Corsello, Giovanni, Mangano, Salvatore, Koutsis, George, Scuderi, Carmela, Ferrara, Pietro, Zollo, Massimo, Berni-Canani, Roberto, Sisto, Antonio, Strano, Federica, Di Francesco, Ludovica, Salayev, Kamran, Xiromerisiou, Georgia, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Di Rosa, Gabriella, Pettoello-Mantovani, Massimo, Tazir, Meriem, Farello, Giovanni, Delvecchio, Maurizio, Di-Donato, Giulio, Obeid, Makram, Saadi, Nebal W., Maccarone, Rita, Kara, Majdi, Karimiani, Ehsan G., Seri, Marco, Di-Falco, Giovanna, Barrano, Giuseppe, Operto, Francesca F., Valenzise, Mariella, Matricardi, Sara, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Rahman, Fatima, De Filippo, Maria, Licari, Amelia, Trebbi, Edoardo, Romano, Ferdinando, Heimer, Gali, Al-Khawaja, Issam, Al-Mutairi, Fuad, Shashkin, Chingiz, Koneyev, Kairgali, Pagnamenta, Alistair T., Corsello, Antonio, Dallapiccola, Bruno, Alobeid, Eman, Mankad, Kshitij, Ghayoor-Karimiani, Ehsan, Chung, Wendy K., Green, Rachel, Alkuraya, Fowzan S., Jepson, James E.C., Houlden, Henry

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