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

saseR: juggling offsets unlocks RNA-seq tools for fast and scalable differential usage, aberrant splicing and expression retrieval

saseR:通过调整偏移量,解锁了RNA-seq工具,实现了快速、可扩展的差异表达分析、异常剪接和表达检索。

Segers, Alexandre; Gilis, Jeroen; Van Heetvelde, Mattias; Risso, Davide; De Baere, Elfride; Clement, Lieven

A Phase I Clinical Trial of Intrahepatic Artery Delivery of TG6002 in Combination with Oral 5-Fluorocytosine in Patients with Liver-Dominant Metastatic Colorectal Cancer.

一项 I 期临床试验,研究肝动脉内递送 TG6002 与口服 5-氟胞胞嘧啶联合治疗以肝脏转移为主的结直肠癌患者的疗效

West Emma J, Sadoun Alain, Bendjama Kaidre, Erbs Philippe, Smolenschi Cristina, Cassier Philippe A, de Baere Thierry, Sainte-Croix Sophie, Brandely Maud, Melcher Alan A, Ismail Fay, Scott Karen J, Bennett Angela, Banks Emma, Gasior Ewa, Kent Sarah, Kurzawa Marta, Hammond Christopher, Patel Jai V, Collinson Fiona J, Twelves Chris, Anthoney D Alan, Swinson Dan, Samson Adel

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

编码囊泡 AP-5 复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良

Kaminska Karolina, Cancellieri Francesca, Quinodoz Mathieu, Moye Abigail R, Bauwens Miriam, Lin Siying, Janeschitz-Kriegl Lucas, Hayman Tamar, Barberán-Martínez Pilar, Schlaeger Regina, Van den Broeck Filip, Ávila Fernández Almudena, Fernández-Caballero Lidia, Perea-Romero Irene, García-García Gema, Salom David, Mazzola Pascale, Zuleger Theresia, Poths Karin, Haack Tobias B, Jacob Julie, Vermeer Sascha, Terbeek Frédérique, Feltgen Nicolas, Moulin Alexandre P, Koutroumanou Louisa, Papadakis George, Browning Andrew C, Madhusudhan Savita, Gränse Lotta, Banin Eyal, Sousa Ana Berta, Coutinho Santos Luisa, Kuehlewein Laura, De Angeli Pietro, Leroy Bart P, Mahroo Omar A, Sedgwick Fay, Eden James, Pfau Maximilian, Andréasson Sten, Scholl Hendrik P N, Ayuso Carmen, Millán José M, Sharon Dror, Tsilimbaris Miltiadis K, Vaclavik Veronika, Tran Hoai V, Ben-Yosef Tamar, De Baere Elfride, Webster Andrew R, Arno Gavin, Sergouniotis Panagiotis I, Kohl Susanne, Santos Cristina, Rivolta Carlo

Absolute oral bioavailability, quantitative toxicokinetics and metabolite profiling of alternariol and alternariol monomethyl ether in pigs

猪体内交链孢酚和交链孢酚单甲醚的绝对口服生物利用度、定量毒代动力学和代谢物分析

den Hollander, Danica; De Baere, Siegrid; Holvoet, Celestien; Devreese, Mathias; Antonissen, Gunther; Martens, Ann; Demeyere, Kristel; Audenaert, Kris; Meyer, Evelyne; Croubels, Siska

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice

自闭症行为是人类和小鼠中PDZD8双等位基因破坏的常见结果。

Pantiru, Andreea D; Van de Sompele, Stijn; Ligneul, Clemence; Chatelain, Camille; Barrea, Christophe; Lerch, Jason P; Filippi, Beatrice M; Alkan, Serpil; De Baere, Elfride; Johnston, Jamie; Clapcote, Steven J

Population pharmacokinetic modeling of sulfadimethoxine, sulfadiazine and sulfamethoxazole combined to trimethoprim in pigs

磺胺二甲嘧啶、磺胺嘧啶和磺胺甲噁唑与甲氧苄啶联合用药在猪体内的群体药代动力学模型

Boulanger, Marine; Taillandier, Jean-François; Henri, Jérôme; Devreese, Mathias; De Baere, Siegrid; Lacroix, Marlène; Ferran, Aude A; Viel, Alexis

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort

揭示伊朗近亲结婚人群中遗传性视网膜疾病的遗传结构

Vincke, Lieselot; Van Schil, Kristof; Ahmadieh, Hamid; Moghaddasi, Afrooz; Sabbaghi, Hamideh; Daftarian, Narsis; Motevasseli, Tahmineh; Javanparast Sheykhani, Leila; Dehghani, Mohammadreza; Vahidi Mehrjardi, Mohammad Yahya; De Zaeytijd, Julie; De Bruyne, Marieke; Mahieu, Quinten; Al-Hajj, Ebrahim; Del Pozo-Valero, Marta; Rosseel, Toon; Van Heetvelde, Mattias; Maroofian, Reza; Suri, Fatemeh; Bauwens, Miriam; De Baere, Elfride

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy

ABCA4相关视网膜病变谱的扩展:严重变异体可能与早发性严重视网膜营养不良相关

Panneman, Daan M; Hitti-Malin, Rebekkah J; McKibbin, Martin; de Bruijn, Suzanne E; Boonen, Erica G M; Vincent, Andrea L; Vargas, Glenda; Corominas, Jordi; Astuti, Galuh; Gilissen, Christian; De Baere, Elfride; Inglehearn, Chris F; Roosing, Susanne; Koenekoop, Robert K; Cremers, Frans P M