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

DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs

DRIVE-KG:利用异构知识图谱增强对研究不足的复杂疾病中变异-表型关联的发现

Rajagopalan, Ananya; Nguyen, Tram Anh; Guare, Lindsay A; Rico, Andre Luis Garao; Venkatesh, Rasika; Caruth, Lannawill; Genetics Center, Regeneron; Medicine BioBank, Penn; Verma, Anurag; Ritchie, Marylyn D; Hall, Molly A; Romano, Joseph D; Setia-Verma, Shefali

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

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

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

A Genome-First Approach to Estimate Prevalence of Germline Pathogenic Variants and Risk of Pancreatic Cancer in Select Cancer Susceptibility Genes

采用基因组优先方法估算特定癌症易感基因中种系致病变异的患病率和胰腺癌风险

Astiazaran-Symonds, Esteban; Kim, Jung; Haley, Jeremy S; Kim, Sun Young; Rao, H Shanker; Genetics Center, Regeneron; Carey, David J; Stewart, Douglas R; Goldstein, Alisa M

Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer

DNA修复基因遗传突变与局限性前列腺癌的关联

Lee, Daniel J; Hausler, Ryan; Le, Anh N; Kelly, Gregory; Powers, Jacquelyn; Ding, James; Feld, Emily; Desai, Heena; Morrison, Casey; Doucette, Abigail; Gabriel, Peter; Genetics Center, Regeneron; Judy, Renae L; Weaver, Joellen; Kember, Rachel; Damrauer, Scott M; Rader, Daniel J; Domchek, Susan M; Narayan, Vivek; Schwartz, Lauren E; Maxwell, Kara N

Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388k European individuals

对38.8万名欧洲个体进行血清丙氨酸氨基转移酶和天冬氨酸氨基转移酶的全基因组关联分析,以及BMI的调节作用

Gao, Chuan; Marcketta, Anthony; Backman, Joshua D; O'Dushlaine, Colm; Staples, Jeffrey; Ferreira, Manuel Allen Revez; Lotta, Luca A; Overton, John D; Reid, Jeffrey G; Mirshahi, Tooraj; Regeneron Genetics Center; Geisinger Regeneron Discovehr Collaboration; Baras, Aris; Abecasis, Gonçalo; Shuldiner, Alan R; Van Hout, Cristopher V; McCarthy, Shane