2021
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Schänzer A, Achleitner MT, Trümbach D, Hubert L, Munnich A, Ahlemeyer B, AlAbdulrahim MM, Greif PA, Vosberg S, Hummer B, Feichtinger RG, Mayr JA, Wortmann SB, Aichner H, Rudnik-Schöneborn S, Ruiz A, Gabau E, Sánchez JP, Ellard S, Homfray T, Stals KL, Wurst W, Neubauer BA, Acker T, Bohlander SK, Asensio C, Besmond C, Alkuraya FS, AlSayed MD, Hahn A, Weber A. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism. Ann Neurol. 2021 Jul;90(1):143-158.
- Latorre-Pellicer A, Gil-Salvador M, Parenti I, Lucia-Campos C, Trujillano L, Marcos-Alcalde I, Arnedo M, Ascaso Á, Ayerza-Casas A, Antoñanzas-Pérez R, Gervasini C, Piccione M, Mariani M, Weber A, Kanber D, Kuechler A, Munteanu M, Khuller K, Bueno-Lozano G, Puisac B, Gómez-Puertas P, Selicorni A, Kaiser FJ, Ramos FJ, Pié J. Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Sci Rep. 2021 Jul 29;11(1):15459. doi: 10.1038/s41598-021-94958-z
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Nolte, D., Kang, JS., Hofmann, A. Schwaab E., Krämer HH., Müller U. : Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia. J Neurol (2021). doi.org/10.1007/s00415-021-10607-5