1
Fokkema, I, Van der Velde, KJ, Slofstra, MK, Ruivenkamp, CAL, Vogel, MJ, Pfundt, R, Blok, MJC, Deprez, RHL, Waisfisz, Q, Abbott, KM, Sinke, RJ, Rahman, R, Nijman, IJ, de Koning, B, Thijs, G, Wieskamp, N, Moritz, RJG, Charbon, B, Saris, Jasper, Dunnen, JT, Laros, JFJ, Swertz, MA, van Gijn, ME
Veröffentlicht in: Fokkema , I , Van der Velde , KJ , Slofstra , MK , Ruivenkamp , CAL , Vogel , MJ , Pfundt , R , Blok , MJC , Deprez , RHL , Waisfisz , Q , Abbott , KM , Sinke , RJ , Rahman , R , Nijman , IJ , de Koning , B , Thijs , G , Wieskamp , N , Moritz , RJG , Charbon , B , Saris , J , Dunnen , JT , Laros , JFJ , Swertz , MA & van Gijn , ME 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 , Van der Velde , KJ , Slofstra , MK , Ruivenkamp , CAL , Vogel , MJ , Pfundt , R , Blok , MJC , Deprez , RHL , Waisfisz , Q , Abbott , KM , Sinke , RJ , Rahman , R , Nijman , IJ , de Koning , B , Thijs , G , Wieskamp , N , Moritz , RJG , Charbon , B , Saris , J , Dunnen , JT , Laros , JFJ , Swertz , MA & van Gijn , ME 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, L, van Zelst-Stams, W A G, Pfundt, R, van den Born, LI, Klaver, Caroline, Verheij, J, Hoyng, CB, Breuning, MH, Boon, CJF, Kievit, Anneke, Verhoeven, Virginie, Pott, JWR, Sallevelt, S, van Hagen, JM, Plomp, AS, Kroes, HY, Lelieveld, SH, Hehir-Kwa, JY, Castelein, S, Nelen, M, Scheffer, H, Lugtenberg, D, Cremers, FPM, Hoefsloot, EH, Yntema, HG
Veröffentlicht in: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , LI , Klaver , C , Verheij , J , Hoyng , CB , Breuning , MH , Boon , CJF , Kievit , A , Verhoeven , V , Pott , JWR , Sallevelt , S , van Hagen , JM , Plomp , AS , Kroes , HY , Lelieveld , SH , Hehir-Kwa , JY , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , FPM , Hoefsloot , EH & Yntema , HG 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9;
2017
Veröffentlicht in: Haer-Wigman , L , van Zelst-Stams , W A G , Pfundt , R , van den Born , LI , Klaver , C , Verheij , J , Hoyng , CB , Breuning , MH , Boon , CJF , Kievit , A , Verhoeven , V , Pott , JWR , Sallevelt , S , van Hagen , JM , Plomp , AS , Kroes , HY , Lelieveld , SH , Hehir-Kwa , JY , Castelein , S , Nelen , M , Scheffer , H , Lugtenberg , D , Cremers , FPM , Hoefsloot , EH & Yntema , HG 2017 , ' Diagnostic exome sequencing in 266 Dutch patients with visual impairment ' , European Journal of Human Genetics , vol. 25 , no. 5 , pp. 591-599 . https://doi.org/10.1038/ejhg.2017.9;
2017
3
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
4
Seco, C.Z. (Celia Zazo), Wesdorp, M. (Mieke), Feenstra, I. (Ilse), Pfundt, R. (Rolph), Hehir-Kwa, J. (Jayne), Lelieveld, S.H. (Stefan H.), Castelein, S. (Steven), Gilissen, C. (Christian), Wijs, I.J. (Ilse) de, Admiraal, R.J. (Ronald), Pennings, R.J.E. (Ronald J.E.), Kunst, H.P.M. (Henricus P.M.), van de Kamp, J.M. (Jiddeke M.), Tamminga, S. (Saskia), Houweling, A.C. (Arjan), Plomp, A. (Astrid), Maas, S.M. (Saskia), de Koning Gans, P.A.M. (P. A M), Kant, S.G. (Sarina), De Geus, C.M. (Christa M.), Frints, S.G.M. (Suzanna), Vanhoutte, E.K. (Els), Dooren, M.F. (Marieke) van, Boogaard, M.H. (Marie-José Henriëtte) van den, Scheffer, H. (Hans), Nelen, M.R. (Marcel), Kremer, H. (Hannie), Hoefsloot, E.H. (Lies), Schraders, M. (Margit), Yntema, H.G.
2017
2017