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

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk

整合外显子组测序和机器学习技术发现,MICB 和干扰素通路基因是系统性硬化症风险的促成因素。

Ketkar, Shamika; Dai, Hongzheng; Burrage, Lindsay; Murdock, David; Dawson, Brian; Acosta-Herrera, Marialbert; Kerick, Martin; Martin, Javier; Wilhelm, Kevin; Asmussen, Jennifer Kay; Lichtarge, Olivier; Center, Regeneron Genetics; Assassi, Shervin; Mayes, Maureen D; Lee, Brendan H

Deep metabolic phenotyping of humans with protein-altering variants in TM6SF2 using a genome-first approach

利用基因组优先方法对携带TM6SF2蛋白改变变异的人类进行深度代谢表型分析

Huang, Helen Ye Rim; Vitali, Cecilia; Zhang, David; Hand, Nicholas J; Phillips, Michael C; Creasy, Kate Townsend; Scorletti, Eleonora; Park, Joseph; Regeneron Centre; Schneider, Kai Markus; Rader, Daniel J; Schneider, Carolin Victoria

Genetic Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis

多发性硬化症的遗传风险变异及其他与鞘内免疫球蛋白G合成相关的基因位点

Pukaj, Albert; Harroud, Adil; Shchetynsky, Klementy; Wirsching, Laura; Peters, Lucy; Andlauer, Till F M; Pääkkönen, Kimmo; Bos, Steffan D; Moylett, Sinéad; Dubois, Bénédicte; Llufriu, Sara; Luessi, Felix; Tackenberg, Björn; Kowarik, Markus C; Then Bergh, Florian; Trebst, Corinna; Tumani, Hayrettin; Wildemann, Brigitte; Bayas, Antonios; Havla, Joachim; Kümpfel, Tania; Knop, Matthias; Genetics Center, Regeneron; Stridh, Pernilla; Hillert, Jan A; Olsson, Tomas; Alfredsson, Lars; Cotsapas, Chris; Flinstad Harbo, Hanne; Zipp, Frauke; Saarela, Janna; Baranzini, Sergio E; Berthele, Achim; Kockum, Ingrid; Hemmer, Bernhard; Gasperi, Christiane

Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women

拓展子宫内膜异位症的遗传图谱:一项涵盖超过一百万名女性的多族裔研究通过整合组学分析揭示关键基因和通路。

Guare, Lindsay A; Das, Jagyashila; Caruth, Lannawill; Rajagopalan, Ananya; Akerele, Alexis T; Brumpton, Ben M; Chen, Tzu-Ting; Kottyan, Leah; Lin, Yen-Feng; Moreno, Elisa; Mulford, Ashley J; Dombrovska, Marija Simona; Luo, Yuan; Rovite, Vita; Sanders, Alan R; Teerlink, Craig; Candelieri, Danielle; Elhadad, Noemie; Hill, Andrew; Jarvik, Gail P; Jaworski, James; Lynch, Julie; Namba, Shinichi; Okada, Yukinori; Shi, Yue; Shirai, Yuya; Shortt, Jonathan; Wei, Wei-Qi; Weng, Chunhua; Yamamoto, Yuji; Biobank, Penn Medicine; Genetics Center, Regeneron; Meta-Analysis Initiative, Global Biobank; Chapman, Sinead; Zhou, Wei; Edwards, Todd; Senapati, Suneeta; Velez Edwards, Digna R; Setia-Verma, Shefali

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

锌转运蛋白 SLC39A5 的基因失活可改善肥胖环境中的肝功能和高血糖

Shek Man Chim, Kristen Howell, John Dronzek, Weizhen Wu, Cristopher Van Hout, Manuel A R Ferreira, Bin Ye, Alexander Li, Susannah Brydges, Vinayagam Arunachalam, Anthony Marcketta, Adam E Locke, Jonas Bovijn, Niek Verweij, Tanima De, Luca Lotta, Lyndon Mitnaul, Michelle LeBlanc, Regeneron Genetics C

Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes

对患有睾丸生殖细胞肿瘤的男性进行生殖系外显子组测序,揭示染色体分离和蛋白质靶向基因的编码缺陷

Pyle, Louise C; Kim, Jung; Bradfield, Jonathan; Damrauer, Scott M; D'Andrea, Kurt; Einhorn, Lawrence H; Godse, Rama; Hakonarson, Hakon; Kanetsky, Peter A; Kember, Rachel L; Jacobs, Linda A; Maxwell, Kara N; Rader, Daniel J; Vaughn, David J; Weathers, Benita; Wubbenhorst, Bradley; Regeneron Genetics Center Research Team; Cancer Genomics Research Laboratory; Greene, Mark H; Nathanson, Katherine L; Stewart, Douglas R

Converging evidence from exome sequencing and common variants implicates target genes for osteoporosis

外显子组测序和常见变异的综合证据表明骨质疏松症的靶基因

Sirui Zhou #, Olukayode A Sosina #, Jonas Bovijn #, Laetitia Laurent #, Vasundhara Sharma, Parsa Akbari, Vincenzo Forgetta, Lai Jiang, Jack A Kosmicki, Nilanjana Banerjee, John A Morris, Erin Oerton, Marcus Jones, Michelle G LeBlanc; Regeneron Genetics Center; Vincent Idone, John D Overton, Jeffrey

Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish

基因组范围和区域性纯合性与古老秩序阿米什人96种复杂性状的关联研究

Lynch, Megan T; Maloney, Kristin A; Xu, Huichun; Perry, James A; Center, Regeneron Genetics; Shuldiner, Alan R; Mitchell, Braxton D

Comparison of the structure-function properties of wild-type human apoA-V and a C-terminal truncation associated with elevated plasma triglycerides

野生型人类载脂蛋白 A-V 与 C 端截短与血浆甘油三酯升高相关的结构功能特性比较

Sylvia Stankov, Cecilia Vitali, Joseph Park, David Nguyen, Leland Mayne, S Walter Englander; Regeneron Genetics Center; Michael G Levin, Marijana Vujkovic, Nicholas J Hand, Michael C Phillips, Daniel J Rader

Germline POT1 variants can predispose to myeloid and lymphoid neoplasms

生殖系POT1变异可导致髓系和淋巴系肿瘤。

Lim, Tristan L; Lieberman, David B; Davis, Adam R; Loren, Alison W; Hausler, Ryan; Bigdeli, Ashkan; Li, Yimei; Powers, Jacquelyn; Raper, Anna; Regeneron Genetics Center; Carty, Shannon A; Nathanson, Katherine L; Bagg, Adam; Hexner, Elizabeth O; Maxwell, Kara N; Morrissette, Jennifer J D; Babushok, Daria V