1
Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Veröffentlicht in: Fokkema , I F A C , van der Velde , K J , Slofstra , M K , Ruivenkamp , C A L , Vogel , M J , Pfundt , R , Blok , M J , Lekanne Deprez , R H , Waisfisz , Q , Abbott , K M , Sinke , R J , Rahman , R , Nijman , I J , de Koning , B , Thijs , G , Wieskamp , N , Moritz , R J G , Charbon , B , Saris , J J , den Dunnen , J T , Laros , J F J , Swertz , M A & van Gijn , M E 2019 , ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ' , Human Mutation , vol. 40 , no. 12 , pp. 2230-2238 . https://doi.org/10.1002/humu.23896;
2019
Veröffentlicht in: Fokkema , I F A C , van der Velde , K J , Slofstra , M K , Ruivenkamp , C A L , Vogel , M J , Pfundt , R , Blok , M J , Lekanne Deprez , R H , Waisfisz , Q , Abbott , K M , Sinke , R J , Rahman , R , Nijman , I J , de Koning , B , Thijs , G , Wieskamp , N , Moritz , R J G , Charbon , B , Saris , J J , den Dunnen , J T , Laros , J F J , Swertz , M A & van Gijn , M E 2019 , ' Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data ' , Human Mutation , vol. 40 , no. 12 , pp. 2230-2238 . https://doi.org/10.1002/humu.23896;
2019
2
Haer-Wigman, Lonneke, van Zelst-Stams, Wendy AG, Pfundt, Rolph, van den Born, L Ingeborgh, Klaver, Caroline CW, Verheij, Joke BGM, Hoyng, Carel B, Breuning, Martijn H, Boon, Camiel JF, Kievit, Anneke J, Verhoeven, Virginie JM, Pott, Jan WR, Sallevelt, Suzanne CEH, van Hagen, Johanna M, Plomp, Astrid S, Kroes, Hester Y, Lelieveld, Stefan H, Hehir-Kwa, Jayne Y, Castelein, Steven, Nelen, Marcel, Scheffer, Hans, Lugtenberg, Dorien, Cremers, Frans PM, Hoefsloot, Lies, Yntema, Helger G
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 5, page 591-599 ; ISSN 1018-4813 1476-5438;
2017
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 5, page 591-599 ; ISSN 1018-4813 1476-5438;
2017
3
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
4
Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 3, page 308-314 ; ISSN 1018-4813 1476-5438;
2016
Veröffentlicht in: European Journal of Human Genetics ; volume 25, issue 3, page 308-314 ; ISSN 1018-4813 1476-5438;
2016
5
Olde Keizer, Richelle A. C. M., Marouane, Abderrahim, Kerstjens-Frederikse, Wilhelmina S., Deden, A. Chantal, Lichtenbelt, Klaske D., Jonckers, Tinneke, Vervoorn, Marieke, Vreeburg, Maaike, Henneman, Lidewij, de Vries, Linda S., Sinke, Richard J., Pfundt, Rolph, Stevens, Servi J. C., Andriessen, Peter, van Lingen, Richard A., Nelen, Marcel, Scheffer, Hans, Stemkens, Daphne, Oosterwijk, Cor, van Amstel, Hans Kristian Ploos, de Boode, Willem P., van Zelst-Stams, Wendy A. G., Frederix, Geert W. J., Vissers, Lisenka E. L. M., Henneman, L, van Haelst, M M, Sistermans, E A, Cornel, M C, Misra-Isrie, M, Mannens, M M A M, Waisfisz, Q, van Hagen, J M, Brooks, A S, Barakat, T S, Hoefsloot, E H, van Lingen, R A, Ruivenkamp, C A L, van Haeringen, A, Koene, S, Santen, G W E, Rutten, J W, de Koning, B, Stevens, S J C, van den Wijngaard, A, Sinnema, M, Stegmann, A P A, Vreeburg, M, Vervoorn, M, Andriessen, P, Kasteel, D
Veröffentlicht in: European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076;
2023
Veröffentlicht in: European Journal of Pediatrics ; volume 182, issue 6, page 2683-2692 ; ISSN 1432-1076;
2023