1
Ghorbani, Fatemeh, de Boer, Eddy N, Benjamins-Stok, Marloes, Verschuuren-Bemelmans, Corien C, Knapper, Jurjen, de Boer-Bergsma, Jelkje, de Vries, Jeroen J, Sikkema-Raddatz, Birgit, Verbeek, Dineke S, Westers, Helga, van Diemen, Cleo C
Veröffentlicht in: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050;
2023
Veröffentlicht in: Ghorbani , F , de Boer , E N , Benjamins-Stok , M , Verschuuren-Bemelmans , C C , Knapper , J , de Boer-Bergsma , J , de Vries , J J , Sikkema-Raddatz , B , Verbeek , D S , Westers , H & van Diemen , C C 2023 , ' Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia ' , Neurology: Genetics , vol. 9 , no. 1 , e200050 . https://doi.org/10.1212/NXG.0000000000200050;
2023
2
Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Veröffentlicht in: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556;
2021
Veröffentlicht in: Imafidon , M E , Sikkema-Raddatz , B , Abbott , K M , Meems-Veldhuis , M T , Swertz , M A , van der Velde , K J , Beunders , G , Bos , D K , Knoers , N V A M , Kerstjens-Frederikse , W S & van Diemen , C C 2021 , ' Strategies in Rapid Genetic Diagnostics of Critically Ill Children : Experiences From a Dutch University Hospital ' , Frontiers in Pediatrics , vol. 9 , 600556 . https://doi.org/10.3389/fped.2021.600556;
2021
3
Imafidon, Miriam E., Sikkema-Raddatz, Birgit, Abbott, Kristin M., Meems-Veldhuis, Martine T., Swertz, Morris A., van der Velde, K. Joeri, Beunders, Gea, Bos, Dennis K., Knoers, Nine V. A. M., Kerstjens-Frederikse, Wilhelmina S., van Diemen, Cleo C.
Veröffentlicht in: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360;
2021
Veröffentlicht in: Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360;
2021
4
Alimohamed, Mohamed Z, Johansson, LennartF, Posafalvi, Anna, Boven, Ludolf G, van Dijk, Krista K, Walters, Lisa, Vos, Yvonne J, Westers, Helga, Hoedemaekers, Yvonne M, Sinke, Richard J, Sijmons, Rolf H, Sikkema-Raddatz, Birgit, Jongbloed, Jan D H, van der Zwaag, Paul A
Veröffentlicht in: Alimohamed , M Z , Johansson , L , Posafalvi , A , Boven , L G , van Dijk , K K , Walters , L , Vos , Y J , Westers , H , Hoedemaekers , Y M , Sinke , R J , Sijmons , R H , Sikkema-Raddatz , B , Jongbloed , J D H & van der Zwaag , P A 2021 , ' Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients ' , International Journal of Cardiology , vol. 332 , pp. 99-104 . https://doi.org/10.1016/j.ijcard.2021.02.069;
2021
Veröffentlicht in: Alimohamed , M Z , Johansson , L , Posafalvi , A , Boven , L G , van Dijk , K K , Walters , L , Vos , Y J , Westers , H , Hoedemaekers , Y M , Sinke , R J , Sijmons , R H , Sikkema-Raddatz , B , Jongbloed , J D H & van der Zwaag , P A 2021 , ' Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients ' , International Journal of Cardiology , vol. 332 , pp. 99-104 . https://doi.org/10.1016/j.ijcard.2021.02.069;
2021
5
Van Bever, Yolande, Brüggenwirth, Hennie T., Wolffenbuttel, Katja P., Dessens, Arianne B., Groenenberg, Irene A.L., Knapen, Maarten F.C.M., De Baere, Elfride, Cools, Martine, Van Ravenswaaij-Arts, Conny M.A., Sikkema-Raddatz, Birgit, Claahsen-Van Der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E.
Veröffentlicht in: Van Bever , Y , Brüggenwirth , H T , Wolffenbuttel , K P , Dessens , A B , Groenenberg , I A L , Knapen , M F C M , De Baere , E , Cools , M , Van Ravenswaaij-Arts , C M A , Sikkema-Raddatz , B , Claahsen-Van Der Grinten , H , Kempers , M , Rinne , T , Hersmus , R , Looijenga , L & Hannema , S E 2020 , ' Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development ' , Journal of Medical Genetics , vol. 57 , no. 9 , pp. 581-589 . https://doi.org/10.1136/jmedgenet-2019-106354;
2020
Veröffentlicht in: Van Bever , Y , Brüggenwirth , H T , Wolffenbuttel , K P , Dessens , A B , Groenenberg , I A L , Knapen , M F C M , De Baere , E , Cools , M , Van Ravenswaaij-Arts , C M A , Sikkema-Raddatz , B , Claahsen-Van Der Grinten , H , Kempers , M , Rinne , T , Hersmus , R , Looijenga , L & Hannema , S E 2020 , ' Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development ' , Journal of Medical Genetics , vol. 57 , no. 9 , pp. 581-589 . https://doi.org/10.1136/jmedgenet-2019-106354;
2020
6
de Groot-van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J V, Knijnenburg, Jeroen, van der Kevie-Kersemaekers, Anne-Marie M F, Kooper, Angelique J A, Voorhoeve, Els, Sikkema-Raddatz, Birgit, van Zutven, Laura J C M, Srebniak, Malgorzata Ilona, Huijsdens-van Amsterdam, Karin, Engelen, John J M, Smeets, Dominique, van Kaam, Anton H, Cornel, Martina C
2021
2021
7
de Groot-van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E., Hoffer, Mariette J. V., Knijnenburg, Jeroen, van der Kevie-Kersemaekers, Anne-Marie M. F., Kooper, Angelique J. A., Voorhoeve, Els, Sikkema-Raddatz, Birgit, van Zutven, Laura J. C. M., Srebniak, Malgorzata Ilona, Huijsdens-van Amsterdam, Karin, Engelen, John J. M., Smeets, Dominique, van Kaam, Anton H., Cornel, Martina C.
Veröffentlicht in: de Groot-van der Mooren , M , de Graaf , G , Weijerman , M E , Hoffer , M J V , Knijnenburg , J , van der Kevie-Kersemaekers , A-M M F , Kooper , A J A , Voorhoeve , E , Sikkema-Raddatz , B , van Zutven , L J C M , Srebniak , M I , Huijsdens-van Amsterdam , K , Engelen , J J M , Smeets , D , van Kaam , A H & Cornel , M C 2021 , ' Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study ' , Prenatal Diagnosis , vol. 41 , no. 10 , pp. 1351-1359 . https://doi.org/10.1002/pd.6003;
2021
Veröffentlicht in: de Groot-van der Mooren , M , de Graaf , G , Weijerman , M E , Hoffer , M J V , Knijnenburg , J , van der Kevie-Kersemaekers , A-M M F , Kooper , A J A , Voorhoeve , E , Sikkema-Raddatz , B , van Zutven , L J C M , Srebniak , M I , Huijsdens-van Amsterdam , K , Engelen , J J M , Smeets , D , van Kaam , A H & Cornel , M C 2021 , ' Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study ' , Prenatal Diagnosis , vol. 41 , no. 10 , pp. 1351-1359 . https://doi.org/10.1002/pd.6003;
2021
8
de Groot‐van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J. V, Knijnenburg, Jeroen, van der Kevie‐Kersemaekers, Anne‐Marie M. F, Kooper, Angelique J. A, Voorhoeve, Els, Sikkema‐Raddatz, Birgit, van Zutven, Laura J. C. M, Srebniak, Malgorzata Ilona, Huijsdens‐van Amsterdam, Karin, Engelen, John J. M, Smeets, Dominique, van Kaam, Anton H, Cornel, Martina C
Veröffentlicht in: Prenatal Diagnosis ; volume 41, issue 10, page 1351-1359 ; ISSN 0197-3851 1097-0223;
2021
Veröffentlicht in: Prenatal Diagnosis ; volume 41, issue 10, page 1351-1359 ; ISSN 0197-3851 1097-0223;
2021
9
Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N, van Berkel, Emma, Hofste, Tom G J, van Zweeden, Martine, Derks, Ronny C, Leijsten, Nico F A, Ruiterkamp-Versteeg, Martina H A, Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J, de Sain-van der Velden, Monique G M, Voorhoeve, Els, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, Nelen, Marcel
Veröffentlicht in: Kiewiet , G , Westra , D , de Boer , E N , van Berkel , E , Hofste , T G J , van Zweeden , M , Derks , R C , Leijsten , N F A , Ruiterkamp-Versteeg , M H A , Charbon , B , Johansson , L , Bos-Kruizinga , J , Veenstra , I J , de Sain-van der Velden , M G M , Voorhoeve , E , Heiner-Fokkema , M R , van Spronsen , F , Sikkema-Raddatz , B & Nelen , M 2024 , ' Future of Dutch NGS-Based Newborn Screening : Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy ' , International journal of neonatal screening , vol. 10 , no. 1 . https://doi.org/10.3390/ijns10010020;
2024
Veröffentlicht in: Kiewiet , G , Westra , D , de Boer , E N , van Berkel , E , Hofste , T G J , van Zweeden , M , Derks , R C , Leijsten , N F A , Ruiterkamp-Versteeg , M H A , Charbon , B , Johansson , L , Bos-Kruizinga , J , Veenstra , I J , de Sain-van der Velden , M G M , Voorhoeve , E , Heiner-Fokkema , M R , van Spronsen , F , Sikkema-Raddatz , B & Nelen , M 2024 , ' Future of Dutch NGS-Based Newborn Screening : Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy ' , International journal of neonatal screening , vol. 10 , no. 1 . https://doi.org/10.3390/ijns10010020;
2024
10
Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N, van Berkel, Emma, Hofste, Tom G J, van Zweeden, Martine, Derks, Ronny C, Leijsten, Nico F A, Ruiterkamp-Versteeg, Martina H A, Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J, de Sain-van der Velden, Monique G M, Voorhoeve, Els, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, Nelen, Marcel
2024
2024