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

Exploring Dynamic Enactment of Scientific Workflows Using Pilot-Abstractions

Autor: Santcroos, M., van Schaik, B. D. C., Shahand, S., Olabarriaga, S., Luckow, A., Jha, S., Balaji, Pavan, Epema, Dick, Fahringer, Thomas

Publikováno v: CCGrid 2013 : 13th IEEE/ACM International Symposium on Cluster, Cloud, and Grid Computing : 13–16 May 2013 Delft Netherlands, 311-318
STARTPAGE=311;ENDPAGE=318;TITLE=CCGrid 2013 : 13th IEEE/ACM International Symposium on Cluster, Cloud, and Grid Computing : 13–16 May 2013 Delft Netherlands

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::f5a9e1365805a7685aa2e16dab68e239
https://pure.amc.nl/en/publications/exploring-dynamic-enactment-of-scientific-workflows-using-pilotabstractions(8c4eb537-b38c-4a24-a462-3532bdc2d496).html

Provenance for distributed biomedical workflow execution

Autor: Madougou S, Santcroos M, Benabdelkader A, Barbera van Schaik, Shahand S, Korkhov V, Ah, Kampen, Sd, Olabarriaga

Publikováno v: Studies in health technology and informatics, 175, 91-100. IOS Press
Europe PubMed Central
Studies in Health Technology and Informatics, 175, 91-100. IOS Press

Scientific research has become very data and compute intensive because of the progress in data acquisition and measurement devices, which is particularly true in Life Sciences. To cope with this deluge of data, scientists use distributed computing an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6ee6a50b33d79bdb6707b690e952cb6e
https://pure.amc.nl/en/publications/provenance-for-distributed-biomedical-workflow-execution(953fb478-b7ad-4b74-a209-71c7e845361d).html

The usability paradox

Autor: Santcroos, M., Vermeeren, A., Ingrid Mulder

Publikováno v: Scopus-Elsevier

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::08dde061e05c1f85836469691d0ce9db
http://www.scopus.com/inward/record.url?eid=2-s2.0-84872204020&partnerID=MN8TOARS

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