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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; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(7239) Nature Publishing Group 10.1038/s41467-024-51310-z
Karayol, Remzi; Borroto, Maria Carla; Haghshenas, Sadegheh; Namasivayam, Anoja; Reilly, Jack; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Shvedunova, Maria; Petersen, Andrea K; Magnussen, Kari; Zweier, Christiane; Vasileiou, Georgia; Reis, André; Savatt, Juliann M; Mulligan, Meghan R; Bicknell, Louise S; Poke, Gemma; Abu-El-Haija, Aya; ... (2024). MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. American journal of human genetics, 111(7), pp. 1330-1351. Cell Press 10.1016/j.ajhg.2024.05.001
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik-Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán-Vega, Francisco J; Pena, Loren Dm; Smith, Edward C; Steinlin, Maja; Babiker, Mohamed Oe; ... (2018). Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. The EMBO Journal, 37(23) EMBO Press 10.15252/embj.2018100540
