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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

以色列人群遗传性视网膜疾病的遗传图谱

Shalom, Sapir; Gradstein, Libe; Pras, Eran; Valensi, Johanna; Birk, Ohad S; Blumenfeld, Anat; Eilat, Avital; Macarov, Michal; Poleg, Tomer; Cremers, Frans P M; Roosing, Susanne; Panneman, Daan M; Hollander, Nadin; Goldenberg-Cohen, Nitza; Yahalom, Claudia; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror

Length of hospital stay after uncomplicated gastrectomy in the Netherlands: a nationwide cohort study

荷兰非复杂性胃切除术后住院时间:一项全国性队列研究

Visser, Maurits R; Voeten, Daan M; Gisbertz, Suzanne S; Ruurda, Jelle P; van Berge Henegouwen, Mark I; van Hillegersberg, Richard

Translational lipidomics reveals BMP and its precursor LPG as biomarkers for CLN5 Batten disease

转化脂质组学揭示BMP及其前体LPG可作为CLN5巴顿病的生物标志物。

Rawat, Eshaan S; Manfred, Nick; Alsohybe, Hisham N; Dong, Wentao; Peña, Isabelle V; Idris, Maryam; Posern, Christian; Westermann, Lena M; Murray, Samantha J; Panneman, Daan M; Vecchia, Stefania Della; Doccini, Stefano; Marchese, Maria; Santorelli, Filippo M; van Hasselt, Peter M; Mitchell, Nadia L; Schulz, Angela; Abu-Remaileh, Monther

Direct detection of 8-oxo-dG using nanopore sequencing

利用纳米孔测序直接检测 8-oxo-dG

Pagès-Gallego, Marc; van Soest, Daan M K; Besselink, Nicolle J M; Straver, Roy; Keijer, Janneke P; Vermeulen, Carlo; Marcozzi, Alessio; van Roosmalen, Markus J; van Boxtel, Ruben; Burgering, Boudewijn M T; Dansen, Tobias B; de Ridder, Jeroen

Multi-domain O-GlcNAcase structures reveal allosteric regulatory mechanisms

多结构域 O-GlcNAcase 结构揭示了变构调节机制

Hansen, Sara Basse; Bartual, Sergio G; Yuan, Huijie; Raimi, Olawale G; Gorelik, Andrii; Ferenbach, Andrew T; Lytje, Kristian; Pedersen, Jan Skov; Drace, Taner; Boesen, Thomas; van Aalten, Daan M F

Improved circulating tumor DNA profiling by simultaneous extraction of DNA methylation and copy number information from methylated DNA sequencing data

通过同时从甲基化DNA测序数据中提取DNA甲基化和拷贝数信息,改进循环肿瘤DNA图谱分析。

Hazelaar, Daan M; Boers, Ruben G; Boers, Joachim B; de Weerd, Vanja; Helmijr, Jean; Phm Jansen, Maurice; Mw Verheul, Henk; Verhoef, Cornelis; Gribnau, Joost; Martens, John Wm; Makrodimitris, Stavros; Wilting, Saskia M

Root Hair Development Is Suppressed by Long-Term Mild Heat Through Down-Regulation of RHD6 and RHD6-like Genes

长期温和的热环境通过下调RHD6和RHD6样基因来抑制根毛发育

Du, Gaigai; Tian, Xin; van den Brink, Daan M; Xu, Jian; Visser, Eric J W; Rieu, Ivo

Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa

影响 EYS 假定启动子的非编码单核苷酸和结构变异会导致常染色体隐性遗传性视网膜色素变性。

Hayman, Tamar; Ovadia, Shai; Krishnan, Jaya; Bouckaert, Manon; Panneman, Daan M; English, Milton; Valensi, Johanna; Cremers, Frans P M; Ben Yosef, Tamar; van den Born, L Ingeborgh; de Bruijn, Suzanne E; Roosing, Susanne; Banin, Eyal; Khateb, Samer; Ashery-Padan, Ruth; Coppieters, Frauke; Swaroop, Anand; Sharon, Dror

Methylated CfDNA may distinguish between high- and intermediate-risk uveal melanoma: a pilot study

甲基化CfDNA可能区分高危和中危葡萄膜黑色素瘤:一项初步研究

Wu, Mike; de Bruyn, Daniël P; Boers, Ruben G; Beasley, Aaron B; Hazelaar, Daan M; Makrodimitris, Stavros; Boers, Joachim B; Vaarwater, Jolanda; de Keizer, Ronald O B; Verdijk, Robert M; Naus, Nicole C; Paridaens, Dion; Wilting, Saskia M; Gray, Elin S; van IJcken, Wilfred F J; Gribnau, Joost; de Klein, Annelies; Brosens, Erwin; Kiliç, Emine