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

Afadin loss induces breast cancer metastasis through destabilisation of E-cadherin to F-actin linkage.

Afadin 的缺失通过破坏 E-钙黏蛋白与 F-肌动蛋白的连接而诱发乳腺癌转移

Rätze Max Ak, Enserink Lotte Nfl, Ishiyama Noboru, van Kempen Sven, Veltman Christina Hj, Nijman Isaac J, Haakma Wisse E, Caldas Carlos, Bernards René, van Diest Paul J, Christgen Matthias, Koorman Thijs, Derksen Patrick Wb

Organoid-evaluable clinical biomarkers predict drug responses and guide new breast cancer therapies

类器官可评估的临床生物标志物可预测药物反应并指导新的乳腺癌治疗

Bui, Tam Binh V; Wolf, Denise M; Bruck, Michael C; Moore, Kaitlin; Lien, Jessica; Choi, Sarah D W; Warhadpande, Shruti; Parizadeh, Amirabbas; Dillon, Deborah; Overmoyer, Beth; Lynce, Filipa; Nijman, Isaac J; Burgering, Boudewijn M T; Harris, Isaac S; Esserman, Laura J; Veer, Laura J van 't; Rosenbluth, Jennifer M

The role of rare compound heterozygous events in autism spectrum disorder

罕见复合杂合事件在自闭症谱系障碍中的作用

Lin, Bochao Danae; Colas, Fabrice; Nijman, Isaac J; Medic, Jelena; Brands, William; Parr, Jeremy R; van Eijk, Kristel R; Klauck, Sabine M; Chiocchetti, Andreas G; Freitag, Christine M; Maestrini, Elena; Bacchelli, Elena; Coon, Hilary; Vicente, Astrid; Oliveira, Guiomar; Pagnamenta, Alistair T; Gallagher, Louise; Ennis, Sean; Anney, Richard; Bourgeron, Thomas; Luykx, Jurjen J; Vorstman, Jacob

Modifier genes in SCN1A-related epilepsy syndromes

SCN1A相关癫痫综合征中的修饰基因

de Lange, Iris M; Mulder, Flip; van 't Slot, Ruben; Sonsma, Anja C M; van Kempen, Marjan J A; Nijman, Isaac J; Ernst, Robert F; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C

The molecular genetic make-up of male breast cancer

男性乳腺癌的分子遗传组成

Moelans, Cathy B; de Ligt, Joep; van der Groep, Petra; Prins, Pjotr; Besselink, Nicolle J M; Hoogstraat, Marlous; Ter Hoeve, Natalie D; Lacle, Miangela M; Kornegoor, Robert; van der Pol, Carmen C; de Leng, Wendy W J; Barbé, Ellis; van der Vegt, Bert; Martens, John; Bult, Peter; Smit, Vincent T H B M; Koudijs, Marco J; Nijman, Isaac J; Voest, Emile E; Selenica, Pier; Weigelt, Britta; Reis-Filho, Jorge S; van der Wall, Elsken; Cuppen, Edwin; van Diest, Paul J

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation

体细胞改变影响了由一种新的内含子剪接位点突变引起的DOCK8高IgE综合征的分子诊断。

Hagl, Beate; Spielberger, Benedikt D; Thoene, Silvia; Bonnal, Sophie; Mertes, Christian; Winter, Christof; Nijman, Isaac J; Verduin, Shira; Eberherr, Andreas C; Puel, Anne; Schindler, Detlev; Ruland, Jürgen; Meitinger, Thomas; Gagneur, Julien; Orange, Jordan S; van Gijn, Marielle E; Renner, Ellen D

Tissue-specific mutation accumulation in human adult stem cells during life

人类成年干细胞在生命过程中发生的组织特异性突变积累

Blokzijl, Francis; de Ligt, Joep; Jager, Myrthe; Sasselli, Valentina; Roerink, Sophie; Sasaki, Nobuo; Huch, Meritxell; Boymans, Sander; Kuijk, Ewart; Prins, Pjotr; Nijman, Isaac J; Martincorena, Inigo; Mokry, Michal; Wiegerinck, Caroline L; Middendorp, Sabine; Sato, Toshiro; Schwank, Gerald; Nieuwenhuis, Edward E S; Verstegen, Monique M A; van der Laan, Luc J W; de Jonge, Jeroen; IJzermans, Jan N M; Vries, Robert G; van de Wetering, Marc; Stratton, Michael R; Clevers, Hans; Cuppen, Edwin; van Boxtel, Ruben

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

弗里斯兰马的侏儒症伴关节松弛与 B4GALT7 中的剪接位点突变有关

Leegwater Peter A, Vos-Loohuis Manon, Ducro Bart J, Boegheim Iris J, van Steenbeek Frank G, Nijman Isaac J, Monroe Glen R, Bastiaansen John W M, Dibbits Bert W, van de Goor Leanne H, Hellinga Ids, Back Willem, Schurink Anouk

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

对大量患者队列中351个癫痫性脑病候选基因进行靶向测序

de Kovel, Carolien G F; Brilstra, Eva H; van Kempen, Marjan J A; Van't Slot, Ruben; Nijman, Isaac J; Afawi, Zaid; De Jonghe, Peter; Djémié, Tania; Guerrini, Renzo; Hardies, Katia; Helbig, Ingo; Hendrickx, Rik; Kanaan, Moine; Kramer, Uri; Lehesjoki, Anna-Elina E; Lemke, Johannes R; Marini, Carla; Mei, Davide; Møller, Rikke S; Pendziwiat, Manuela; Stamberger, Hannah; Suls, Arvid; Weckhuysen, Sarah; Koeleman, Bobby P C

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

基于下一代测序的基因组诊断在临床遗传中心的应用:实施选择及其影响

Vrijenhoek, Terry; Kraaijeveld, Ken; Elferink, Martin; de Ligt, Joep; Kranendonk, Elcke; Santen, Gijs; Nijman, Isaac J; Butler, Derek; Claes, Godelieve; Costessi, Adalberto; Dorlijn, Wim; van Eyndhoven, Winfried; Halley, Dicky J J; van den Hout, Mirjam C G N; van Hove, Steven; Johansson, Lennart F; Jongbloed, Jan D H; Kamps, Rick; Kockx, Christel E M; de Koning, Bart; Kriek, Marjolein; Lekanne Dit Deprez, Ronald; Lunstroo, Hans; Mannens, Marcel; Mook, Olaf R; Nelen, Marcel; Ploem, Corrette; Rijnen, Marco; Saris, Jasper J; Sinke, Richard; Sistermans, Erik; van Slegtenhorst, Marjon; Sleutels, Frank; van der Stoep, Nienke; van Tienhoven, Marianne; Vermaat, Martijn; Vogel, Maartje; Waisfisz, Quinten; Marjan Weiss, Janneke; van den Wijngaard, Arthur; van Workum, Wilbert; Ijntema, Helger; van der Zwaag, Bert; van IJcken, Wilfred F J; den Dunnen, Johan; Veltman, Joris A; Hennekam, Raoul; Cuppen, Edwin