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

A common 19 bp APOE enhancer deletion is protective against Alzheimer's disease in African Americans

一种常见的19 bp APOE增强子缺失对非裔美国人具有预防阿尔茨海默病的作用

Brutman, Julianna N; Busald, Tina; Nizamis, Evangelos; Kaufman, Eli J; Lin, Eugene; Hendricks, Nzinga E; Chintamen, Sana; Sulovari, Arvis; Smukowski, Samuel N; Ye, Yidian; Peikon, Ian; Jayadev, Suman; Logsdon, Benjamin A; Wijsman, Ellen M; Blue, Elizabeth E; Valdmanis, Paul N

Integrating contextual determinants and polygenic risk to examine dementia and late-life cognition in the Multi-Ethnic Study of Atherosclerosis

整合情境因素和多基因风险,以研究多民族动脉粥样硬化研究中的痴呆症和晚年认知功能

Xue, Diane; Hirsch, Jana A; Besser, Lilah; Hughes, Timothy M; Blue, Elizabeth E; Fitzpatrick, Annette L; Fohner, Alison E

Variant Prioritization by Pedigree-Based Haplotyping

基于系谱单倍型分析的变异优先级排序

Nafikov, Rafael A; Sohi, Harkirat K; Nato, Alejandro Q Jr; Horimoto, Andrea R; Day, Tyler R C; Bird, Thomas D; DeStefano, Anita L; Blue, Elizabeth E; Wijsman, Ellen M

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Multi-ancestry meta-analysis identifies genetic modifiers of age-at-onset of Alzheimer's disease at known and novel loci

多民族荟萃分析揭示了已知和新基因位点上影响阿尔茨海默病发病年龄的遗传修饰因子

Blue, Elizabeth E; Broome, Jai; Xue, Diane; Kingston, Hanley; Chapman, Nicola H; Gogarten, Stephanie; Naj, Adam C; Wijsman, Ellen M

Training competencies and recommendations for the next generation of public health genetics: Reflections from current leaders in the field

下一代公共卫生遗传学人才的培训能力和建议:来自该领域现任领导者的思考

Xue, Diane; Blue, Elizabeth E; Fullerton, Stephanie M; Henrikson, Nora B; Knerr, Sarah; Laberge, Anne-Marie; Parker, Lisa S; Sabatello, Maya; Shridhar, Nirupama Nini; Smith, Jennifer A; Wilfond, Benjamin S; Wojcik, Genevieve L; Yu, Joon-Ho; Fohner, Alison E

Opportunities and challenges of local ancestry in genetic association analyses

遗传关联分析中地方血统带来的机遇与挑战

Sun, Quan; Horimoto, Andrea R V R; Chen, Brian; Ockerman, Frank; Mohlke, Karen L; Blue, Elizabeth; Raffield, Laura M; Li, Yun

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

PLCG1 的杂合变异会影响听力、视力、心脏和免疫功能

Ma Mengqi, Zheng Yiming, Deng Mingxi, Lu Shenzhao, Pan Xueyang, Luo Xi, Etoundi Michelle, Li-Kroeger David, Worley Kim C, Burrage Lindsay C, Blieden Lauren S, Allworth Aimee, Chen Wei-Liang, Merla Giuseppe, Mandriani Barbara, Otten Catherine E, Blanc Pierre, Rosenfeld Jill A, Dutta Debdeep, Yamamoto Shinya, Wangler Michael F, Glass Ian A, Chen Jingheng, Blue Elizabeth, Prontera Paolo, Rosain Jeremie, Marlin Sandrine, Lalani Seema R, Bellen Hugo J

CHP2 Modifies Chronic Pseudomonas aeruginosa Airway Infection Risk in Cystic Fibrosis

CHP2 改变囊性纤维化患者慢性铜绿假单胞菌气道感染风险

Faino, Anna V; Gordon, William W; Buckingham, Kati; Stilp, Adrienne M; Pace, Rhonda G; Raraigh, Karen S; Collaco, Joseph M; Zhou, Yi-Hui; Dang, Hong; O'Neal, Wanda; Knowles, Michael K; Cutting, Garry R; Rosenfeld, Margaret; Bamshad, Michael J; Gibson, Ronald L; Blue, Elizabeth E

Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation

VARS2 中的新变异揭示了一种罕见线粒体病的表型变异性,该病对缬氨酸补充剂有反应

Marquez, Jonathan; Viviano, Stephen; Rahman, Fahmid; Strohbehn, Samuel D; Allworth, Aimee; Perez, Norma; Saneto, Russell P; Anna, Scott 1st; Penón Portmann, Mónica; Blue, Elizabeth E; Glass, Ian A; Deniz, Engin; Shelkowitz, Emily