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van der Velde, K. Joeri, Singh, Gurnoor, Kaliyaperumal, Rajaram, Liao, Xiaofeng, de Ridder, Sander, Rebers, Susanne, Kerstens, Hindrik H. D., de Andrade, Fernanda, van Reeuwijk, Jeroen, De Gruyter, Fini E., Hiltemann, Saskia, Ligtvoet, Maarten, Weiss, Marjan M., van Deutekom, Hanneke W. M., Jansen, Anne M. L., Stubbs, Andrew P., Vissers, Lisenka E. L. M., Laros, Jeroen F. J., van Enckevort, Esther, Stemkens, Daphne, Hoen, Peter A. C. t, Belien, Jeroen A. M., van Gijn, Marielle E., Swertz, Morris A.
Veröffentlicht in: van der Velde , K J , Singh , G , Kaliyaperumal , R , Liao , X , de Ridder , S , Rebers , S , Kerstens , H H D , de Andrade , F , van Reeuwijk , J , De Gruyter , F E , Hiltemann , S , Ligtvoet , M , Weiss , M M , van Deutekom , H W M , Jansen , A M L , Stubbs , A P , Vissers , L E L M , Laros , J F J , van Enckevort , E , Stemkens , D , Hoen , P A C T , Belien , J A M , van Gijn , M E & Swertz , M A 2022 , ' FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research ' , Scientific Data , vol. 9 , no. 1 , 169 . https://doi.org/10.1038/s41597-022-01265-x;
2022
Veröffentlicht in: van der Velde , K J , Singh , G , Kaliyaperumal , R , Liao , X , de Ridder , S , Rebers , S , Kerstens , H H D , de Andrade , F , van Reeuwijk , J , De Gruyter , F E , Hiltemann , S , Ligtvoet , M , Weiss , M M , van Deutekom , H W M , Jansen , A M L , Stubbs , A P , Vissers , L E L M , Laros , J F J , van Enckevort , E , Stemkens , D , Hoen , P A C T , Belien , J A M , van Gijn , M E & Swertz , M A 2022 , ' FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research ' , Scientific Data , vol. 9 , no. 1 , 169 . https://doi.org/10.1038/s41597-022-01265-x;
2022
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Olde Keizer, Richelle A.C.M., Marouane, Abderrahim, Kerstjens-Frederikse, W. S., Deden, A. C., Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, M., Vreeburg, M., Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, S. J.C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, W. P., van Zelst-Stams, Wendy A.G., Frederix, Geert W.J., Vissers, Lisenka E.L.M.
Veröffentlicht in: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J & Vissers , L E L M 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023
Veröffentlicht in: on behalf of RADICON-NL consortium , Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J & Vissers , L E L M 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder : results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023
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Olde Keizer, R.A.C.M., Marouane, A., Kerstjens-Frederikse, W.S., Deden, A.C., Lichtenbelt, K.D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L.S., Sinke, R.J., Pfundt, R., Stevens, S.J.C., Andriessen, P., van Lingen, R.A., Nelen, M., Scheffer, H., Stemkens, D., Oosterwijk, C., van Amstel, H.K.P., de Boode, W.P., van Zelst-Stams, W.A.G., Frederix, G.W.J., Vissers, L.E.L.M., DE Koning, Bart, Stevens, Servi, van den Wijngaard, Arthur, Sinnema, Margje, Stegmann, Alexander, Vreeburg, Maaike, Brunner La Rocca, Hans-Peter
Veröffentlicht in: Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J , Vissers , L E L M , RADICON-NL Consortium , DE Koning , B , Stevens , S , van den Wijngaard , A , Sinnema , M , Stegmann , A , Vreeburg , M & Brunner La Rocca , H-P 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023
Veröffentlicht in: Olde Keizer , R A C M , Marouane , A , Kerstjens-Frederikse , W S , Deden , A C , Lichtenbelt , K D , Jonckers , T , Vervoorn , M , Vreeburg , M , Henneman , L , de Vries , L S , Sinke , R J , Pfundt , R , Stevens , S J C , Andriessen , P , van Lingen , R A , Nelen , M , Scheffer , H , Stemkens , D , Oosterwijk , C , van Amstel , H K P , de Boode , W P , van Zelst-Stams , W A G , Frederix , G W J , Vissers , L E L M , RADICON-NL Consortium , DE Koning , B , Stevens , S , van den Wijngaard , A , Sinnema , M , Stegmann , A , Vreeburg , M & Brunner La Rocca , H-P 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands ' , European Journal of Pediatrics , vol. 182 , no. 6 , pp. 2683-2692 . https://doi.org/10.1007/s00431-023-04909-1;
2023
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Niehues, Anna, de Visser, Casper, Hagenbeek, Fiona A., Kulkarni, Purva, Pool, René, Karu, Naama, Kindt, Alida S.D., Singh, Gurnoor, Vermeiren, Robert R.J.M., Boomsma, Dorret I., van Dongen, Jenny, T'Hoen, Peter A.C., van Gool, Alain J.
Veröffentlicht in: Niehues , A , de Visser , C , Hagenbeek , F A , Kulkarni , P , Pool , R , Karu , N , Kindt , A S D , Singh , G , Vermeiren , R R J M , Boomsma , D I , van Dongen , J , T'Hoen , P A C & van Gool , A J 2024 , ' A multi-omics data analysis workflow packaged as a FAIR Digital Object ' , GigaScience , vol. 13 , giad115 , pp. 1-12 . https://doi.org/10.1093/gigascience/giad115;
2024
Veröffentlicht in: Niehues , A , de Visser , C , Hagenbeek , F A , Kulkarni , P , Pool , R , Karu , N , Kindt , A S D , Singh , G , Vermeiren , R R J M , Boomsma , D I , van Dongen , J , T'Hoen , P A C & van Gool , A J 2024 , ' A multi-omics data analysis workflow packaged as a FAIR Digital Object ' , GigaScience , vol. 13 , giad115 , pp. 1-12 . https://doi.org/10.1093/gigascience/giad115;
2024