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

Concordance of Biological and Clinical Staging of Alzheimer Disease Pathology in Down Syndrome

唐氏综合征中阿尔茨海默病病理生物学分期与临床分期的一致性

Russell, Jason K; Schlachetzki, Zinayida; Ances, Beau M; Rafii, Michael S

Falls predict faster progression to Alzheimer's dementia

跌倒预示着阿尔茨海默病痴呆症病情进展更快。

Keleman, Audrey A; Li, Melody; Wisch, Julie K; Bollinger, Rebecca M; Krauss, Melissa J; Grant, Elizabeth A; Benzinger, Tammie L S; Ances, Beau M; Morris, John C; Stark, Susan L

Brain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease

唐氏综合征和常染色体显性遗传阿尔茨海默病患者的脑容量变化轨迹

Kennedy, James T; Wisch, Julie K; Boerwinkle, Anna H; Millar, Peter R; McKay, Nicole S; Brickman, Adam M; Chhatwal, Jasmeer P; Mendez, Patricio Chrem; Christian, Bradley T; Cohen, Anne; Cruchaga, Carlos; Daniels, Alisha; Flores, Shaney; Handen, Benjamin L; Hartley, Sigan L; Head, Elizabeth; Ibanez, Laura; Krisnsky-McHale, Sharon J; la Fougere, Christian; Lai, Florence; Laymon, Charles M; Lee, Joseph H; Lee, Jae-Hong; Levin, Johannes; Llibre-Guerra, Jorge; Aguillon, David F; Lott, Ira T; Mapstone, Mark; McDade, Eric; Morris, John; O'Bryant, Sid E; Price, Julie C; Rafii, Michael S; Roh, Jee Hoon; Rosas, H Diana; Schupf, Nicole; Supnet-Bell, Charlene; Xiong, Chengjie; Zaman, Shahid; Benzinger, Tammie L S; Gordon, Brian A; Ances, Beau M

The association between APOE 𝜀4 carrierships and the detection of amyloid positivity using an Alzheimer's disease proteomic blood test in asymptomatic Down syndrome

APOE ε4 携带者与无症状唐氏综合征患者使用阿尔茨海默病蛋白质组学血液检测发现淀粉样蛋白阳性之间的关联

Abdullah, Lubnaa Badriyyah; Zhang, Fan; Petersen, Melissa; Hall, James; Handen, Benjamin L; Mapstone, Mark; Christian, Brad; Head, Elizabeth; Harley, Sigan; Andrews, Howard; Lee, Joseph H; Tudorascu, Dana; Hom, Christy; Zaman, Shahid; Brickman, Adam M; Rosas, Diana; Cohen, Annie; Harp, Jordan P; Schmitt, Frederick; Ptomey, Lauren; Burns, Jeffrey M; Lott, Ira T; Lai, Florence; Laymon, Charles; Cruchaga, Carlos; O'Bryant, Sid; Ances, Beau M

Neuropathological measures of increased tau phosphorylation across the Down syndrome lifespan

唐氏综合征患者一生中tau蛋白磷酸化水平升高的神经病理学指标

Pascual, Jesse R; Rivera, Isabel; Nguyen, Halyma; Ngo, Phong T; Hoang, Alan; Andrews, Elizabeth J; Rouanet, Jeremy; Wright, Sierra T; Sordo, Lorena; Kofler, Julia; Ikonomovic, Milos D; Lai, Florence; Mapstone, Mark; Christian, Bradley T; Handen, Benjamin L; Lott, Ira T; Doran, Eric; Hom, Christy L; Harp, Jordan; Schmitt, Frederick; Tudorascu, Dana L; Ances, Beau M; Phelan, Michael; Liu, Lei; Flores-Aguilar, Lisi; Head, Elizabeth

A framework for assessing the trustworthiness of scientific research findings

评估科学研究结果可信度的框架

Nosek, Brian A; Allison, David B; Jamieson, Kathleen Hall; McNutt, Marcia; Nielsen, A Beau; Wolf, Susan M

Creating a responsible authorship culture in science: Anchoring authorship practices in principles of transparency, credit, and accountability

在科学领域创建负责任的作者文化:将作者实践建立在透明、署名和问责原则之上

Kiermer, Véronique; Adams, Sofia; Bibbins-Domingo, Kirsten; Flores Bueso, Yensi; Jamieson, Kathleen Hall; Heber, Joerg; Hosseini, Mohammad; Marušić, Ana; Nielsen, Beau; Skipper, Magdalena; Swamy, Geeta K; Wolf, Susan M

Adenine base editor for knockout of proteins: A practical guide from design to analysis with updated MultiEditRbatch

用于蛋白质敲除的腺嘌呤碱基编辑器:从设计到分析的实用指南(含更新版 MultiEditRbatch)

Eaton, Ella J; Wick, Bryce J; Chacón, Jeremy S; Wang, Amy J; Kluesner, Mitchell; Barnes, Jackson T; Kar, Bibekananda; Wang, Minjing; Johnson, Matthew J; Skeate, Joseph G; Webber, Beau R; Moriarity, Branden S

Correction: Perspective: IL-15 cytokine-armored NK cells as ready-to-use immunotherapy for diverse malignancies: therapeutic potential and toxicity risks

更正:观点:IL-15细胞因子修饰的NK细胞作为多种恶性肿瘤的即用型免疫疗法:治疗潜力和毒性风险

Baughan, Scott L; Folsom, Timothy; Johnson, Matt; Kreuger, Joshua; Webber, Beau R; Moriarity, Branden S