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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Van Opstal, Diane, van Maarle, Merel C., Lichtenbelt, Klaske, Weiss, Marjan M., Schuring-Blom, Heleen, Bhola, Shama L., Hoffer, Mariette J. V., Huijsdens-van Amsterdam, Karin, Macville, Merryn V., Kooper, Angelique J. A., Faas, Brigitte H. W., Govaerts, Lutgarde, Tan-Sindhunata, Gita M., den Hollander, Nicolette, Feenstra, Ilse, Galjaard, Robert-Jan H., Oepkes, Dick, Ghesquiere, Stijn, Brouwer, Rutger W. W., Beulen, Lean, Bollen, Sander, Elferink, Martin G., Straver, Roy, Henneman, Lidewij, Page-Christiaens, Godelieve C., Sistermans, Erik A.
Veröffentlicht in: Van Opstal , D , van Maarle , M C , Lichtenbelt , K , Weiss , M M , Schuring-Blom , H , Bhola , S L , Hoffer , M J V , Huijsdens-van Amsterdam , K , Macville , M V , Kooper , A J A , Faas , B H W , Govaerts , L , Tan-Sindhunata , G M , den Hollander , N , Feenstra , I , Galjaard , R-J H , Oepkes , D , Ghesquiere , S , Brouwer , R W W , Beulen , L , Bollen , S , Elferink , M G , Straver , R , Henneman , L , Page-Christiaens , G C , Sistermans , E A & Dutch NIPT Consortium 2018 , ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study ' , Genetics in Medicine , vol. 20 , no. 5 , pp. 480-485 . https://doi.org/10.1038/gim.2017.132;
2018

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TRIDENT-2:National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, Karuna R. M., Sistermans, Erik A., Macville, Merryn V. E., Stevens, Servi J. C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M. J., Boter, Marjan, Diderich, Karin E. M., de Die-Smulders, Christine E. M., Duin, Leonie K., Faas, Brigitte H. W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariette J. V., den Hollander, Nicolette S., Hollink, Iris H. I. M., Jehee, Fernanda S., Knapen, Maarten F. C. M., Kooper, Angelique J. A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F. C. M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E. M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.
Veröffentlicht in: van der Meij , K R M , Sistermans , E A , Macville , M V E , Stevens , S J C , Bax , C J , Bekker , M N , Bilardo , C M , Boon , E M J , Boter , M , Diderich , K E M , de Die-Smulders , C E M , Duin , L K , Faas , B H W , Feenstra , I , Haak , M C , Hoffer , M J V , den Hollander , N S , Hollink , I H I M , Jehee , F S , Knapen , M F C M , Kooper , A J A , van Langen , I M , Lichtenbelt , K D , Linskens , I H , van Maarle , M C , Oepkes , D , Pieters , M J , Schuring-Blom , G H , Sikkel , E , Sikkema-Raddatz , B , Smeets , D F C M , Srebniak , M I , Suijkerbuijk , R F , Tan-Sindhunata , G M , van der Ven , A J E M , van Zelderen-Bhola , S L , Henneman , L , Galjaard , R-J H , Van Opstal , D , Weiss , M M & Dutch NIPT Consortium 2019 , ' TRIDENT-2 : National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands ' , American Journal of Human Genetics , vol. 105 , no. 6 , pp. 1091-1101 . https://doi.org/10.1016/j.ajhg.2019.10.005;
2019

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TRIDENT-2:National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, Karuna R M, Sistermans, Erik A, Macville, Merryn V E, Stevens, Servi J C, Bax, Caroline J, Bekker, Mireille N, Bilardo, Caterina M, Boon, Elles M J, Boter, Marjan, Diderich, Karin E M, de Die-Smulders, Christine E M, Duin, Leonie K, Faas, Brigitte H W, Feenstra, Ilse, Haak, Monique C, Hoffer, Mariëtte J V, den Hollander, Nicolette S, Hollink, Iris H I M, Jehee, Fernanda S, Knapen, Maarten F C M, Kooper, Angelique J A, van Langen, Irene M, Lichtenbelt, Klaske D, Linskens, Ingeborg H, van Maarle, Merel C, Oepkes, Dick, Pieters, Mijntje J, Schuring-Blom, G Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F C M, Srebniak, Malgorzata I, Suijkerbuijk, Ron F, Tan-Sindhunata, Gita M, van der Ven, A Jeanine E M, van Zelderen-Bhola, Shama L, Henneman, Lidewij, Galjaard, Robert-Jan H, Van Opstal, Diane, Weiss, Marjan M
Veröffentlicht in: Dutch NIPT Consortium , van der Meij , K R M , Sistermans , E A , Macville , M V E , Stevens , S J C , Bax , C J , Bekker , M N , Bilardo , C M , Boon , E M J , Boter , M , Diderich , K E M , de Die-Smulders , C E M , Duin , L K , Faas , B H W , Feenstra , I , Haak , M C , Hoffer , M J V , den Hollander , N S , Hollink , I H I M , Jehee , F S , Knapen , M F C M , Kooper , A J A , van Langen , I M , Lichtenbelt , K D , Linskens , I H , van Maarle , M C , Oepkes , D , Pieters , M J , Schuring-Blom , G H , Sikkel , E , Sikkema-Raddatz , B , Smeets , D F C M , Srebniak , M I , Suijkerbuijk , R F , Tan-Sindhunata , G M , van der Ven , A J E M , van Zelderen-Bhola , S L , Henneman , L , Galjaard , R-J H , Van Opstal , D & Weiss , M M 2019 , ' TRIDENT-2 : National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands ' , American Journal of Human Genetics , vol. 105 , no. 6 , pp. 1091-1101 . https://doi.org/10.1016/j.ajhg.2019.10.005;
2019

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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.
Veröffentlicht in: The American Journal of Human Genetics ; volume 105, issue 6, page 1091-1101 ; ISSN 0002-9297;
2019

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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

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