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1Academic Journal
المؤلفون: van der Schoot, Vyne, van der Meer, Eline, Hillen, Marij A., Yntema, Helger G., Brunner, Han G., Oerlemans, Anke J.M.
المصدر: van der Schoot , V , van der Meer , E , Hillen , M A , Yntema , H G , Brunner , H G & Oerlemans , A J M 2024 , ' Exploring uncertainties regarding unsolicited findings in genetic testing ' , Patient Education and Counseling , vol. 119 , 108064 . https://doi.org/10.1016/j.pec.2023.108064
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Diderich, Karin E. M., Bruggenwirth, Hennie T., Joosten, Marieke, Thurik, Florentine, Mijalkovic, Jona, Polak, Marike, Kromosoeto, Joan, Somers‐Bolman, Galhana M., van den Born, Myrthe, Drost, Mark, Galjaard, Robert Jan H., Galjaard, Sander, Hoefsloot, Lies H., Knapen, Maarten F. C. M., van Minkelen, Rick, van der Schoot, Vyne, van Slegtenhorst, Marjon A., Sleutels, Frank, Stuurman, Kyra E., Weerts, Marjolein J. A., Go, Attie T. J. I., Wilke, Martina, Srebniak, Malgorzata I.
المصدر: Prenatal Diagnosis ; ISSN 0197-3851 1097-0223
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3Academic Journal
المؤلفون: Donze, Stephany H., Srebniak, Malgorzata I., Diderich, Karin E. M., van den Born, Myrthe, Galjaard, Robert-Jan, Govaerts, Lutgarde C. P., van der Schoot, Vyne, Knapen, Maarten F. C. M., Joosten, Marieke, Van Opstal, Diane
المصدر: Donze , S H , Srebniak , M I , Diderich , K E M , van den Born , M , Galjaard , R-J , Govaerts , L C P , van der Schoot , V , Knapen , M F C M , Joosten , M & Van Opstal , D 2024 , ' Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results ' , Prenatal Diagnosis , vol. 44 , no. 4 , pp. 401-408 . https://doi.org/10.1002/pd.6499
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/c43c44af-33ed-4142-b6f7-25a9875ed596
https://doi.org/10.1002/pd.6499
https://pure.eur.nl/ws/files/134140335/Prenatal_Diagnosis_-_2023_-_Donze_-_Limited_additional_value_of_karyotyping_cultured_amniotic_fluid_cell_colonies_in.pdf
http://www.scopus.com/inward/record.url?scp=85180443422&partnerID=8YFLogxK -
4Academic Journal
المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, van den Born, Myrthe, Wilke, Martina, Joosten, Marieke, Stuurman, Kyra E., Hoefsloot, Lies H., Van Opstal, Diane, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.
المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , van den Born , M , Wilke , M , Joosten , M , Stuurman , K E , Hoefsloot , L H , Van Opstal , D , Brüggenwirth , H T & Srebniak , M I 2024 , ' Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844) ' , European Journal of Medical Genetics , vol. 67 , 104884 . https://doi.org/10.1016/j.ejmg.2023.104884
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/9971203e-3eae-458d-a93d-21c5c5978975
https://doi.org/10.1016/j.ejmg.2023.104884
https://pure.eur.nl/ws/files/120241866/Response_to_the_comment_on_Diderich_et_al._The_role_of_a_multidisciplinary_team_in_managing_variants_of_uncertain_clinical_significance_in_prenatal_genetic_diagnosis_EJMG_66_10_104844_.pdf
http://www.scopus.com/inward/record.url?scp=85177065122&partnerID=8YFLogxK -
5Academic Journal
المؤلفون: Diderich, Karin E. M., Klapwijk, Jasmijn E., van der Schoot, Vyne, Brüggenwirth, Hennie T., Joosten, Marieke, Srebniak, Malgorzata I.
المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , Brüggenwirth , H T , Joosten , M & Srebniak , M I 2023 , ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ' , Application of Clinical Genetics , vol. 16 , pp. 89-97 . https://doi.org/10.2147/TACG.S411185
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6Academic Journal
المؤلفون: van der Schoot, Vyne, Damsté, Carlijn, Yntema, Helger G., Brunner, Han G., Oerlemans, Anke J.M.
المصدر: van der Schoot , V , Damsté , C , Yntema , H G , Brunner , H G & Oerlemans , A J M 2023 , ' Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing : “A great technology creating new dilemmas” ' , Journal of Genetic Counseling , vol. 32 , no. 2 , pp. 387-396 . https://doi.org/10.1002/jgc4.1647
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/d4cfb21d-c633-4f3a-9ca5-465a42183fd4
https://doi.org/10.1002/jgc4.1647
https://pure.eur.nl/ws/files/72698950/Clinical_geneticists_views_on_and_experiences_with_unsolicited_findings_in_next_generation_sequencing.pdf
http://www.scopus.com/inward/record.url?scp=85141963976&partnerID=8YFLogxK -
7Academic Journal
المؤلفون: Diderich,Karin EM, Klapwijk,Jasmijn E, van der Schoot,Vyne, Brüggenwirth,Hennie T, Joosten,Marieke, Srebniak,Malgorzata I
مصطلحات موضوعية: The Application of Clinical Genetics
وصف الملف: text/html
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8Report
المؤلفون: Blackburn, Patrick R, Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C, Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S, Rosenfeld, Jill A, Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B, Madden, Jill A, Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R, Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal, Ellis, Jordan Lerner-, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Sander, van der Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N, Klee, Eric W, Grand, Katheryn, Sanchez-Lara, Pedro A, Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E, Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun
المصدر: Blackburn , P R , Ebstein , F , Hsieh , T-C , Motta , M , Radio , F C , Herkert , J C , Rinne , T , Thiffault , I , Rapp , M , Alders , M , Maas , S , Gerard , B , Smol , T , Vincent-Delorme , C , Cogné , B , Isidor , B , Vincent , M , Bachmann-Gagescu , R , Rauch , A , Joset , P , Ferrero , G B , Ciolfi , A , Husson , T , Guerrot , A-M ....
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9Academic Journal
المؤلفون: Haarman, Annechien E.G., Thiadens, Alberta A.H.J., van Tienhoven, Marianne, Loudon, Sjoukje E., de Klein, J. E.M.M.Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J.A., Hoefsloot, Lies H., Klaver, Caroline C.W., Verhoeven, Virginie J.M.
المصدر: Haarman , A E G , Thiadens , A A H J , van Tienhoven , M , Loudon , S E , de Klein , J E M M A , Brosens , E , Polling , J R , van der Schoot , V , Bouman , A , Kievit , A J A , Hoefsloot , L H , Klaver , C C W & Verhoeven , V J M 2022 , ' Whole exome sequencing of known eye genes reveals genetic causes for high myopia ' , Human Molecular Genetics , vol. 31 , no. ....
وصف الملف: application/pdf
الاتاحة: https://pure.eur.nl/en/publications/9a0cd993-1630-4025-8062-1ed8a580c7d6
https://doi.org/10.1093/hmg/ddac113
https://pure.eur.nl/ws/files/68448610/Whole_exome_sequencing_of_known_eye_genes_reveals_genetic_causes_for_high_myopia.pdf
http://www.scopus.com/inward/record.url?scp=85139378305&partnerID=8YFLogxK -
10Academic Journal
المؤلفون: Blackburn, Patrick R., Ebstein, Frederic, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Benedicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogne, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, Francois, Zech, Michael, Prokisch, Holger, Necpal, Jan, Jech, Robert, Winkelmann, Juliane, Koprusakova, Monika Turcanova, Konstantopoulou, Vassiliki, Younce, John R., Krapels, Ingrid, Stegmann, Alexander P. A., van Der Schoot, Vyne, Wang, T.
المصدر: Blackburn , P R , Ebstein , F , Hsieh , T-C , Motta , M , Radio , F C , Herkert , J C , Rinne , T , Thiffault , I , Rapp , M , Alders , M , Maas , S , Gerard , B , Smol , T , Vincent-Delorme , C , Cogne , B , Isidor , B , Vincent , M , Bachmann-Gagescu , R , Rauch , A , Joset , P , Ferrero , G B , Ciolfi , A , Husson , T , Guerrot , A-M ....
مصطلحات موضوعية: DE-NOVO MUTATIONS, PROTEIN NETWORK, CULLIN 3, SUBUNIT, GENES, PHENOTYPE, ENCODES
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11Academic Journal
المؤلفون: van der Schoot, Vyne, Haer-Wigman, Lonneke, Feenstra, Ilse, Tammer, Femke, Oerlemans, Anke J. M., van Koolwijk, Martine P. A., van Agt, Frans, Arens, Yvonne H. J. M., Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.
المساهمون: EC | Horizon 2020 Framework Programme, ZonMw
المصدر: European Journal of Human Genetics ; volume 30, issue 2, page 170-177 ; ISSN 1018-4813 1476-5438
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12Academic Journal
المؤلفون: van der Made, Caspar I., Simons, Annet, Schuurs-Hoeijmakers, Janneke, van den Heuvel, Guus, Mantere, Tuomo, Kersten, Simone, van Deuren, Rosanne C., Steehouwer, Marloes, van Reijmersdal, Simon V., Jaeger, Martin, Hofste, Tom, Astuti, Galuh, Corominas Galbany, Jordi, van der Schoot, Vyne, van der Hoeven, Hans, Hagmolen Of ten Have, Wanda, Klijn, Eva, van den Meer, Catrien, Fiddelaers, Jeroen, de Mast, Quirijn, Bleeker-Rovers, Chantal P., Joosten, Leo A. B., Yntema, Helger G., Gilissen, Christian, Nelen, Marcel, van der Meer, Jos W. M., Brunner, Han G., Netea, Mihai G., van de Veerdonk, Frank L., Hoischen, Alexander
المصدر: van der Made , C I , Simons , A , Schuurs-Hoeijmakers , J , van den Heuvel , G , Mantere , T , Kersten , S , van Deuren , R C , Steehouwer , M , van Reijmersdal , S V , Jaeger , M , Hofste , T , Astuti , G , Corominas Galbany , J , van der Schoot , V , van der Hoeven , H , Hagmolen Of ten Have , W , Klijn , E , van den Meer , C , Fiddelaers , J , de Mast , Q ....
مصطلحات موضوعية: SARS-COV-2, INSIGHTS, SARS
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13
المؤلفون: Blackburn, Patrick R., Ebstein, Frédéric, Hsieh, Tzung-Chien, Motta, Marialetizia, Radio, Francesca Clementina, Herkert, Johanna C., Rinne, Tuula, Thiffault, Isabelle, Rapp, Michele, Alders, Mariel, Maas, Saskia, Gerard, Bénédicte, Smol, Thomas, Vincent-Delorme, Catherine, Cogné, Benjamin, Isidor, Bertrand, Vincent, Marie, Bachmann-Gagescu, Ruxandra, Rauch, Anita, Joset, Pascal, Ferrero, Giovanni Battista, Ciolfi, Andrea, Husson, Thomas, Guerrot, Anne-Marie, Bacino, Carlos, Macmurdo, Colleen, Thompson, Stephanie S., Rosenfeld, Jill A., Faivre, Laurence, Mau-Them, Frederic Tran, Deb, Wallid, Vignard, Virginie, Agrawal, Pankaj B., Madden, Jill A., Goldenberg, Alice, Lecoquierre, François, Zech, Michael, Prokisch, Holger, Necpál, Ján, Jech, Robert, Winkelmann, Juliane, Koprušáková, Monika Turčanová, Konstantopoulou, Vassiliki, Younce, John R., Shinawi, Marwan, Mighton, Chloe, Fung, Charlotte, Morel, Chantal, Ellis, Jordan Lerner, DiTroia, Stephanie, Barth, Magalie, Bonneau, Dominique, Krapels, Ingrid, Stegmann, Sander, van der Schoot, Vyne, Brunet, Theresa, Bußmann, Cornelia, Mignot, Cyril, Courtin, Thomas, Ravelli, Claudia, Keren, Boris, Ziegler, Alban, Hasadsri, Linda, Pichurin, Pavel N., Klee, Eric W., Grand, Katheryn, Sanchez-Lara, Pedro A., Krüger, Elke, Bézieau, Stéphane, Klinkhammer, Hannah, Krawitz, Peter Michael, Eichler, Evan E., Tartaglia, Marco, Küry, Sébastien, Wang, Tianyun
المصدر: medRxiv
مصطلحات موضوعية: Article
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14Electronic Resource
المؤلفون: Diderich, Karin E.M., Klapwijk, Jasmijn E., van der Schoot, Vyne, Brüggenwirth, Hennie T., Joosten, Marieke, Srebniak, Malgorzata I.
المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , Brüggenwirth , H T , Joosten , M & Srebniak , M I 2023 , ' Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing ' , Application of Clinical Genetics , vol. 16 , pp. 89-97 .
مصطلحات الفهرس: article
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15Electronic Resource
المؤلفون: van der Schoot, Vyne
مصطلحات الفهرس: unsolicited findings, secondary findings, next-generation sequencing, genetic testing, Doctoral Thesis
URL:
https://cris.maastrichtuniversity.nl/en/publications/aff1d5f4-1e67-4e00-824a-44cc237234bc https://cris.maastrichtuniversity.nl/ws/files/133375557/i7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375555/c7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375561/p7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375563/s7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375555/c7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375557/i7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375559/k7871.jpg https://cris.maastrichtuniversity.nl/ws/files/133375561/p7871.pdf https://cris.maastrichtuniversity.nl/ws/files/133375563/s7871.pdf -
16Academic Journal
المؤلفون: Haer-Wigman, Lonneke, van der Schoot, Vyne, Feenstra, Ilse, Vulto-van Silfhout, Anneke T., Gilissen, Christian, Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.
المصدر: Haer-Wigman , L , van der Schoot , V , Feenstra , I , Vulto-van Silfhout , A T , Gilissen , C , Brunner , H G , Vissers , L E L M & Yntema , H G 2019 , ' 1 in 38 individuals at risk of a dominant medically actionable disease ' , European Journal of Human Genetics , vol. 27 , no. 2 , pp. 325-330 . https://doi.org/10.1038/s41431-018-0284-2
مصطلحات موضوعية: INCIDENTAL FINDINGS, SECONDARY FINDINGS, SEQUENCE VARIANTS, AMERICAN-COLLEGE, CLINICAL EXOME, RECOMMENDATIONS, GENETICS
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17Academic Journal
المؤلفون: Diderich, Karin E. M., Klapwijk, Jasmijn E., van der Schoot, Vyne, van den Born, Myrthe, Wilke, Martina, Joosten, Marieke, Stuurman, Kyra E., Hoefsloot, Lies H., van Opstal, Diane, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.
المصدر: Diderich , K E M , Klapwijk , J E , van der Schoot , V , van den Born , M , Wilke , M , Joosten , M , Stuurman , K E , Hoefsloot , L H , van Opstal , D , Brüggenwirth , H T & Srebniak , M I 2023 , ' The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis ' , European Journal of Medical Genetics , vol. 66 , no. 10 , 104844 . https://doi.org/10.1016/j.ejmg.2023.104844
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18Conference
المؤلفون: Klapwijk, Jasmijn E., Polak, Marike G., Diderich, Karin E. M., Srebniak, Malgorzata I., Bruggenwirth, Hennie T., Lou, Stina, Vogel, Ida, van der Schoot, Vyne, Bakkeren, Iris M., Dijkstra, Katinka, Riedijk, Sam
المصدر: Klapwijk , J E , Polak , M G , Diderich , K E M , Srebniak , M I , Bruggenwirth , H T , Lou , S , Vogel , I , van der Schoot , V , Bakkeren , I M , Dijkstra , K & Riedijk , S 2022 , ' Reporting uncertain prenatal exome sequencing results : how do medical students handle uncertainty? ' , European Journal of Human Genetics , vol. 30 , no. Supplement 1 , P22.013.D , pp. 563 .
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19Academic Journal
المؤلفون: van der Schoot, Vyne, de Munnik, Sonja, Venselaar, Hanka, Elting, Mariet, Mancini, Grazia M.S., Ravenswaaij-Arts, Conny M.A., Anderlid, Britt Marie, Brunner, Han G., Stevens, Servi J.C.
المصدر: van der Schoot , V , de Munnik , S , Venselaar , H , Elting , M , Mancini , G M S , Ravenswaaij-Arts , C M A , Anderlid , B M , Brunner , H G & Stevens , S J C 2018 , ' Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene ' , Molecular Genetics and Genomic Medicine , vol. 6 , no. 3 , pp. 393-400 . https://doi.org/10.1002/mgg3.387
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20Academic Journal
المؤلفون: Heijligers, Malou, Van Montfoort, Aafke, Meijer-Hoogeveen, Madelon, Broekmans, Frank, Bouman, Katelijne, Homminga, Irene, Dreesen, Jos, Paulussen, Aimee, Engelen, John, Coonen, Edith, Van der Schoot, Vyne, van Deursen-Luijten, Marieke, Muntjewerff, Nienke, Peeters, Andrea, van Golde, Ron, van der Hoeven, Mark, Arens, Yvonne, de Die-Smulders, Christine
المصدر: Heijligers , M , Van Montfoort , A , Meijer-Hoogeveen , M , Broekmans , F , Bouman , K , Homminga , I , Dreesen , J , Paulussen , A , Engelen , J , Coonen , E , Van der Schoot , V , van Deursen-Luijten , M , Muntjewerff , N , Peeters , A , van Golde , R , van der Hoeven , M , Arens , Y & de Die-Smulders , C 2018 , ' Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014 ' , Journal of ....
مصطلحات موضوعية: Preimplantation genetic diagnosis, Perinatal outcome, Congenital malformations, Children, Follow-up, ESHRE PGD CONSORTIUM, HUMAN EMBRYOS, BIRTH-WEIGHT, PREGNANCIES, MISDIAGNOSIS, METAANALYSIS, BLASTOMERE, ANEUPLOIDY, NEWBORNS, OUTCOMES