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

Bone Health After Metabolic and Bariatric Surgery: Osteometabolism Biomarkers, Bone Mineral Density, and Microarchitecture

代谢和减肥手术后的骨骼健康:骨代谢生物标志物、骨矿物质密度和微结构

de Almeida, Camila Medeiros; Lopes, Karynne Grutter; da Costa Tavares Bezerra, Michelle; Leal, Paulo Roberto Falcão; Bouskela, Eliete; da Gama, Eduardo Medeiros Ferreira; de Farias, Maria Lucia Fleiuss; Madeira, Miguel; Kraemer-Aguiar, Luiz Guilherme

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX.

细胞建模和拯救一种新的非编码遗传性糖原贮积症病因 IX。

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Mohan Shruthi, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

PPP2R5C基因的致病性新生变异会导致Houge-Janssens综合征谱系内的神经发育障碍。

Verbinnen, Iris; Douzgou Houge, Sofia; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Geneviève, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M; Foss, Kimberly; Dobyns, William; White, Susan M; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A; Van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J; Ruiz, Anna; Trujillo Quintero, Juan Pablo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K; Weisenberg, Judith L; Haack, Tobias B; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Bindels de Heus, Karen G C B; de Wit, Marie-Claire Y; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Géraldine; Spillmann, Rebecca C; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M; Krawitz, Peter; Douzgos Houge, Gunnar; Janssens, Veerle

Gut Microbiota, Intestinal Barrier Function, and Metabolism Across Adiposity and Glucose Tolerance.

肠道菌群、肠道屏障功能和代谢与肥胖和葡萄糖耐量的关系。

Lopes Karynne Grutter, de Souza Maria das Graças Coelho, Marques Lopes Fernanda de Azevedo, da Silva Júnior Vicente Lopes, Carvalho Ana Teresa Pugas, Rapozo Davy Carlos Mendes, de Lemos Barbosa Carolina Monteiro, Bouskela Eliete, Castiglione Raquel Carvalho, Albano Rodolpho Matos, Kraemer-Aguiar Luiz Guilherme

Comparing Ancestry Standardization Approaches for a Transancestry Colorectal Cancer Polygenic Risk Score.

比较用于跨种族结直肠癌多基因风险评分的祖源标准化方法

Rosenthal Elisabeth A, Hsu Li, Thomas Minta, Peters Ulrike, Kachulis Christopher, Patterson Karynne, Jarvik Gail P

Exercise-induced adaptations in the kynurenine pathway: implications for health and disease management

运动诱导的犬尿氨酸途径适应性变化:对健康和疾病管理的影响

Rangel, Marcus Vinicius Dos Santos; Lopes, Karynne Grutter; Qin, Xuebin; Borges, Juliana Pereira

Impacts of the Accreditation Process for Undergraduate Medical Schools: A Scoping Review

本科医学院校认证过程的影响:范围界定综述

Girotto, Leticia C; Machado, Karynne B; Moreira, Roberta F C; Martins, Milton A; Tempski, Patrícia Z

Population-scale Long-read Sequencing in the All of Us Research Program

“我们所有人”研究计划中的群体规模长读长测序

Garimella, Kiran V; Li, Qiuhui; Wertz, Julie; Lee, Samuel K; Cunial, Fabio; Huang, Yongqing; Mostovoy, Yulia; Lorig-Roach, Ryan; English, Adam; Su, Hang; Levy, Shawn; Muzny, Donna M; Berngruber, Chelsea; Danzi, Matt C; Harvey, William T; LaPlante, Emily L; Patterson, Karynne; Rozanski, Allison N; Schwartz, Sophie; Shifaw, Beri; Wang, Yuanyuan; Wong, Isaac; Xu, Isaac R L; Zaheri, Shadi; Zuchner, Stephan; Zheng, Xinchang; Dugan-Perez, Shannon; Izydorczyk, Michal; Mehta, Heer; Gibbs, Richard A; Lichtenstein, Lee; Gupta, Namrata; Lennon, Niall; Gabriel, Stacey; Timp, Winston; Doheny, Kimberly F; Dutka, Tara; Musick, Anjene; Wei, Chia-Lin; Sedlazeck, Fritz J; Schatz, Michael C; Talkowski, Michael E; Eichler, Evan E

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX.

糖原贮积症新型非编码遗传病因的细胞建模与拯救 IX.

Iyengar Apoorva K, Zou Xue, Dai Jian, Francis Rhodricia A, Safi Alexias, Patterson Karynne, Koch Rebecca L, Clarke Shannon, Beaman M Makenzie, Chong Jessica X, Bamshad Michael J, Majoros William H, Rehder R Catherine, Bali Deeksha S, Allen Andrew S, Crawford Gregory E, Kishnani Priya S, Reddy Timothy E

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

利用多重功能数据减少代表性不足人群中变异分类的不公平现象

Dawood, Moez; Fayer, Shawn; Pendyala, Sriram; Post, Mason; Kalra, Divya; Patterson, Karynne; Venner, Eric; Muffley, Lara A; Fowler, Douglas M; Rubin, Alan F; Posey, Jennifer E; Plon, Sharon E; Lupski, James R; Gibbs, Richard A; Starita, Lea M; Robles-Espinoza, Carla Daniela; Coyote-Maestas, Willow; Gallego Romero, Irene