日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Chorionic Villus Sampling for Rapid Confirmation of High-Risk NIPT Results for Trisomy 21, 18, and 13

绒毛膜绒毛取样用于快速确认21、18和13三体综合征高风险NIPT结果

Srebniak, Malgorzata I; Weerts, Marjolein; Joosten, Marieke; Drost, Mark; Galjaard, Robert Jan; van der Schoot, Vyne; van den Born, Myrthe; Knapen, Maarten F C M; Prinsen, Krista; Cornette, Jerome M J; DeKoninck, Philip L J; Papatsonis, Dimitri; Spaan, Julia; Dijkman, Anneke; de Weerd, Sabina; Go, Attie T J I; Diderich, Karin E M; Van Opstal, Diane

Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study

无细胞DNA产前筛查结果正常时,胎儿染色体异常的残余风险:一项回顾性研究

Iglesias, Adriana I; Van Opstal, Diane; Thurik, Florentine F; Drost, Mark; Weerts, Marjolein J A; Joosten, Marieke; Diderich, Karin E M; van der Schoot, Vyne; van den Born, Myrthe; Galjaard, Robert-Jan H; van Veen, Stefanie; Goedegebuur-Zwalua, Eveline; de Weerd, Sabina; Dijkman, Anneke; Papatsonis, Dimitri; Cornette, Jérôme M J; Galjaard, Sander; Knapen, Maarten F C M; Prinsen, Krista; Go, Attie T J I; Stuurman, Kyra E; Srebniak, Malgorzata I

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3基因功能缺失变异导致综合征性神经发育障碍

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 F; Lerner-Ellis, Jordan; DiTroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P A; van der Schoot, Vyne; Brunet, Theresa; Bußmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B; Mayr, Johannes A; Feichtinger, René G; 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

Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing

产前外显子组测序检测前和检测后遗传咨询的挑战和务实解决方案

Diderich, Karin E M; Klapwijk, Jasmijn E; van der Schoot, Vyne; Brüggenwirth, Hennie T; Joosten, Marieke; Srebniak, Malgorzata I

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

对已知眼部基因进行全外显子组测序,揭示了高度近视的遗传原因

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

The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study

临床外显子组测序中意外发现的影响:一项定性访谈研究

Schoot, Vyne van der; Viellevoije, Simone J; Tammer, Femke; Brunner, Han G; Arens, Yvonne; Yntema, Helger G; Oerlemans, Anke J M

1 in 38 individuals at risk of a dominant medically actionable disease

每 38 人中就有 1 人面临罹患主要医学可干预疾病的风险

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