Publications

The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.

Journal Article (3)

Journal Article

O'Rawe, J. A.; Wu, Y.; Dorfel, M. J.; Rope, A. F.; Au, P. Y.; Parboosingh, J. S.; Moon, S.; Kousi, M.; Kosma, K.; Smith, C. S. et al.; Tzetis, M.; Schuette, J. L.; Hufnagel, R. B.; Prada, C. E.; Martinez, F.; Orellana, C.; Crain, J.; Caro-Llopis, A.; Oltra, S.; Monfort, S.; Jimenez-Barron, L. T.; Swensen, J.; Ellingwood, S.; Smith, R.; Fang, H.; Ospina, S.; Stegmann, S.; Den Hollander, N.; Mittelman, D.; Highnam, G.; Robison, R.; Yang, E.; Faivre, L.; Roubertie, A.; Riviere, J. B.; Monaghan, K. G.; Wang, K.; Davis, E. E.; Katsanis, N.; Kalscheuer, V. M.; Wang, E. H.; Metcalfe, K.; Kleefstra, T.; Innes, A. M.; Kitsiou-Tzeli, S.; Rosello, M.; Keegan, C. E.; Lyon, G. J.: TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 97 (6), pp. 922 - 932 (2015)

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Journal Article

Guy, M. P.; Shaw, M.; Weiner, C. L.; Hobson, L.; Stark, Z.; Rose, K.; Kalscheuer, V. M.; Gecz, J.; Phizicky, E. M.: Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 36 (12), pp. 1176 - 1187 (2015)

MPG.PuRe

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Journal Article

Adegbola, A.; Musante, L.; Callewaert, B.; Maciel, P.; Hu, H.; Isidor, B.; Picker-Minh, S.; Le Caignec, C.; Delle Chiaie, B.; Vanakker, O. et al.; Menten, B.; Dheedene, A.; Bockaert, N.; Roelens, F.; Decaestecker, K.; Silva, J.; Soares, G.; Lopes, F.; Najmabadi, H.; Kahrizi, K.; Cox, G. F.; Angus, S. P.; Staropoli, J. F.; Fischer, U.; Suckow, V.; Bartsch, O.; Chess, A.; Ropers, H. H.; Wienker, T. F.; Hübner, C.; Kaindl, A. M.; Kalscheuer, V. M.: Redefining the MED13L syndrome. European journal of human genetics 23 (10), pp. 1308 - 1317 (2015)

MPG.PuRe

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