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

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

纳米孔长读长测序技术可帮助危重病人实现超快速诊断和紧急临床决策。

Smits, Daphne J; Ferraro, Federico; Drost, Mark; van der Linde, Herma C; de Graaf, Bianca M; van Bever, Yolande; Brooks, Alice S; Bardina, Livija; Brüggenwirth, Hennie T; Debuy, Christophe; Donker Kaat, Laura; van Dijk, Bastiaan T; van Engelen, Nienke; Geeven, Geert; van de Graaf, Raoul; van Haaften-Visser, Désirée Y; van Hasselt, Peter M; Heijsman, Daphne; Hendriks, Yvonne M C; Hitti-Malin, Rebekkah J; Hoefsloot, Lies H; Huijbregts, Glenn; IJspeert, Hanna; Lamballais, Sander; Mijalkovic, Jona; Mol, Merel O; Nawawi, Diënna; Nederpelt, Nadine; Nibbeling, Esther A R; Te Rijdt, Wouter; Schot, Rachel; van Slegtenhorst, Marjon; Sleutels, Frank; Ulenkate, Eva L M; Van Veghel-Plandsoen, Monique; Verhagen, Judith M A; Vos, David; Wauters, Erwin; Wilke, Martina; Sylva, Marc; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kleefstra, Tjitske; Rots, Dmitrijs; Verhoeven, Virginie J M

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

DNA甲基化特征在神经发育障碍常规诊断中的临床应用价值

Smits, Daphne J; Debuy, Christophe; Brooks, Alice S; Schot, Rachel; Ferraro, Federico; Rots, Dmitrijs; Bouman, Arjan; Verhoeven, Virginie J M; Donker Kaat, Laura; Kant, Sarina G; van Bever, Yolande; Demirdas, Serwet; Zeidler, Shimriet; van Dooren, Marieke F; Donze, Stephany H; Hoefsloot, Lies H; van Slegtenhorst, Marjon A; Wilke, Martina; Sleutels, Frank; Drost, Mark; Brüggenwirth, Hennie T; van Minkelen, Rick; Goverde, Anne; Hol, Janna A; van de Laar, Ingrid M B H; van Ierland, Yvette; Kievit, Anneke; van der Schoot, Vyne; Stuurman, Kyra E; Mancini, Grazia M S; Wessels, Marja W; van Ham, Tjakko J; Kleefstra, Tjitske; Barakat, Tahsin Stefan

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

SMPD4 调控有丝分裂核膜动力学,其缺失会导致小头畸形和糖尿病。

Smits, Daphne J; Schot, Rachel; Krusy, Nathalie; Wiegmann, Katja; Utermöhlen, Olaf; Mulder, Monique T; den Hoedt, Sandra; Yoon, Grace; Deshwar, Ashish R; Kresge, Christina; Pletcher, Beth; van Mook, Maura; Ferreira, Marta Serio; Poot, Raymond A; Slotman, Johan A; Kremers, Gert-Jan; Ahmad, Abeer; Albash, Buthaina; Bastaki, Laila; Marafi, Dana; Dekker, Jordy; van Ham, Tjakko J; Nguyen, Laurent; Mancini, Grazia M S

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

BRCA1相关蛋白1(BAP1)中罕见的种系杂合错义变异会导致一种综合征性神经发育障碍。

Küry, Sébastien; Ebstein, Frédéric; Mollé, Alice; Besnard, Thomas; Lee, Ming-Kang; Vignard, Virginie; Hery, Tiphaine; Nizon, Mathilde; Mancini, Grazia M S; Giltay, Jacques C; Cogné, Benjamin; McWalter, Kirsty; Deb, Wallid; Mor-Shaked, Hagar; Li, Hong; Schnur, Rhonda E; Wentzensen, Ingrid M; Denommé-Pichon, Anne-Sophie; Fourgeux, Cynthia; Verheijen, Frans W; Faurie, Eva; Schot, Rachel; Stevens, Cathy A; Smits, Daphne J; Barr, Eileen; Sheffer, Ruth; Bernstein, Jonathan A; Stimach, Chandler L; Kovitch, Eliana; Shashi, Vandana; Schoch, Kelly; Smith, Whitney; van Jaarsveld, Richard H; Hurst, Anna C E; Smith, Kirstin; Baugh, Evan H; Bohm, Suzanne G; Vyhnálková, Emílie; Ryba, Lukáš; Delnatte, Capucine; Neira, Juanita; Bonneau, Dominique; Toutain, Annick; Rosenfeld, Jill A; Audebert-Bellanger, Séverine; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Laumonnier, Frédéric; Berger, Seth I; Smith, Ann C M; Bourdeaut, Franck; Stern, Marc-Henri; Redon, Richard; Krüger, Elke; Margueron, Raphaël; Bézieau, Stéphane; Poschmann, Jeremie; Isidor, Bertrand

Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia

双等位基因DAB1变异与轻度无脑回畸形和小脑发育不全相关

Smits, Daphne J; Schot, Rachel; Wilke, Martina; van Slegtenhorst, Marjon; de Wit, Marie Claire Y; Dremmen, Marjolein H G; Dobyns, William B; Barkovich, A James; Mancini, Grazia M S

Reduction of oxidative stress suppresses poly-GR-mediated toxicity in zebrafish embryos.

降低氧化应激可抑制斑马鱼胚胎中聚糖还原酶介导的毒性

Riemslagh Fréderike W, Verhagen Rob F M, van der Toorn Esmay C, Smits Daphne J, Quint Wim H, van der Linde Herma C, van Ham Tjakko J, Willemsen Rob