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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
Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; Deutsch, Samuel; Guigo, Roderic; Denoeud, France; Drenkow, Jorg; Rossier, Colette; Ariani, Francesca; Capra, Valeria; Excoffier, Laurent; Renieri, Alessandra; Gingeras, Thomas R.; Antonarakis, Stylianos E. (2009). Variation in Novel Exons (RACEfrags) of the MECP2 Gene in Rett Syndrome Patients and Controls. Human mutation, 30(9), E866 - E879. Hoboken, N.J.: Wiley-Blackwell 10.1002/humu.21073
Bottani, Armand; Chelly, Jamel; de Brouwer, Arjan P M; Pardo, Bruno; Barker, Mandy; Capra, Valeria; Bartoloni, Lucia; Antonarakis, Stylianos E; Conrad, Bernard (2007). Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation. American journal of medical genetics. Part A, 143A(8), pp. 888-90. Hoboken, N.J.: Wiley-Liss 10.1002/ajmg.a.31651
