Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Autor: Kim, A., Savary, C., Dubourg, C., Carre, W., Mouden, C., Hamdi-Roze, H., Guyodo, H., Douce, J. le, Pasquier, L., Flori, E., Gonzales, M., Beneteau, C., Boute, O., Attie-Bitach, T., Roume, J., Goujon, L., Akloul, L., Odent, S., Watrin, E., Dupe, V., Tayrac, M. de, David, V., Genin, E., Campion, D., Dartigues, J.F.C.O., Deleuze, J.F., Lambert, J.C., Redon, R., Ludwig, T., Grenier-Boley, B., Letort, S., Lindenbaum, P., Meyer, V., Quenez, O., Dina, C., Bellenguez, C., Charbonnier-Le Clezio, C., Giemza, J., Chatel, S., Ferec, C., Marec, H. le, Letenneur, L., Nicolas, G., Rouault, K., Bacq, D., Boland, A., Lechner, D., Wijmenga, C., Swertz, M.A., Slagboom, P.E., Ommen, G.J.B. van, Duijn, C.M. van, Boomsma, D.I., Bakker, P.I.W. de, Bovenberg, J.A., Craen, A.J.M. de, Beekman, M., Hofman, A., Willemsen, G., Wolffenbuttel, B., Platteel, M., Y.P. du, Chen, R.Y., Cao, H.Z., Cao, R., Sun, Y.S., Cao, J.S., Dijk, F. van, Neerincx, P.B.T., Deelen, P., Dijkstra, M., Byelas, G., Kanterakis, A., Bot, J., Ye, K., Lameijer, E.W., Vermaat, M., Laros, J.F.J., Dunnen, J.T. den, Knijff, P. de, Karssen, L.C., Leeuwen, E.M. van, Amin, N., Koval, V., Rivadeneira, F., Estrada, K., Hehirkwa, J.Y., Ligt, J. de, Abdellaoui, A., Hottenga, J.J., Kattenberg, V.M., Enckevort, D. van, Mei, H., Santcroos, M., Schaik, B.D.C. van, Handsaker, R.E., McCarroll, S.A., Eichler, E.E., Ko, A., Sudmant, P., Francioli, L.C., Kloosterman, W.P., Nijman, I.J., Guryev, V., FREX Consortium, GoNL Consortium

Publikováno v: Brain, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142, 35-49. OXFORD UNIV PRESS
Kim, A, Savary, C, de Tayrac, M, David, V, FREX Consortium, Boomsma, D, Willemsen, G, Abdellaoui, A, Hottenga, J J & Kattenberg, M 2019, ' Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly ', Brain : a journal of neurology, vol. 142, no. 1, pp. 35-49 . https://doi.org/10.1093/brain/awy290
Brain : a journal of neurology, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology, 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142(1), 35. Oxford University Press

Kim et al. identify novel genes and disease pathways in the forebrain developmental disorder holoprosencephaly, and show that many cases involve oligogenic inheritance. The findings underline the roles of Sonic Hedgehog and primary cilia in forebrain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c33790c2c548866b2bd58ac9919bb5
https://research.rug.nl/en/publications/9c483394-6d35-4799-b37f-f2b3674e2109

Detecting de novo mutations in intellectual disability

Autor: Ligt, J. de

Contains fulltext : 125598.pdf (Publisher’s version ) (Open Access) Radboud Universiteit Nijmegen, 07 april 2014 Promotores : Brunner, H.G., Veltman, J.A. Co-promotores : Vissers, L.E.L.M., Hehir, J.Y.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3189ce76c334df941ae64fedcf074e29
http://hdl.handle.net/2066/125598