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

Rare variants in RTEL1 are associated with familial interstitial pneumonia

RTEL1基因的罕见变异与家族性间质性肺炎相关。

Cogan, Joy D; Kropski, Jonathan A; Zhao, Min; Mitchell, Daphne B; Rives, Lynette; Markin, Cheryl; Garnett, Errine T; Montgomery, Keri H; Mason, Wendi R; McKean, David F; Powers, Julia; Murphy, Elissa; Olson, Lana M; Choi, Leena; Cheng, Dong-Sheng; Blue, Elizabeth Marchani; Young, Lisa R; Lancaster, Lisa H; Steele, Mark P; Brown, Kevin K; Schwarz, Marvin I; Fingerlin, Tasha E; Schwartz, David A; Lawson, William E; Loyd, James E; Zhao, Zhongming; Phillips, John A 3rd; Blackwell, Timothy S

A statistical framework to guide sequencing choices in pedigrees

用于指导系谱测序选择的统计框架

Cheung, Charles Y K; Marchani Blue, Elizabeth; Wijsman, Ellen M

Identity-by-descent graphs offer a flexible framework for imputation and both linkage and association analyses

基于血缘关系的图为插补以及连锁分析和关联分析提供了一个灵活的框架。

Blue, Elizabeth Marchani; Cheung, Charles Yk; Glazner, Christopher G; Conomos, Matthew P; Lewis, Steven M; Sverdlov, Serge; Thornton, Timothy; Wijsman, Ellen M

Identification of rare variants from exome sequence in a large pedigree with autism

通过外显子组测序鉴定自闭症大家系中的罕见变异

Marchani, E E; Chapman, N H; Cheung, C Y K; Ankenman, K; Stanaway, I B; Coon, H H; Nickerson, D; Bernier, R; Brkanac, Z; Wijsman, E M

Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity

NIMH阿尔茨海默病样本的基因组扫描揭示了多个发病年龄位点,以及遗传和样本异质性的证据。

Choi, Yoonha; Marchani, Elizabeth E; Bird, Thomas D; Steinbart, Ellen J; Blacker, Deborah; Wijsman, Ellen M

Estimation and visualization of identity-by-descent within pedigrees simplifies interpretation of complex trait analysis

对谱系内同源性的估计和可视化简化了复杂性状分析的解释。

Marchani, Elizabeth E; Wijsman, Ellen M

The N141I mutation in PSEN2: implications for the quintessential case of Alzheimer disease

PSEN2基因中的N141I突变:对阿尔茨海默病典型病例的意义

Yu, Chang-En; Marchani, Elizabeth; Nikisch, Georg; Müller, Ulrich; Nolte, Dagmar; Hertel, Andreas; Wijsman, Ellen M; Bird, Thomas D

Contrasting identity-by-descent estimators, association studies, and linkage analyses using the Framingham Heart Study data

利用弗雷明汉心脏研究数据对比同源性估计、关联研究和连锁分析

Marchani, Elizabeth E; Di, Yanming; Choi, Yoonha; Cheung, Charles; Su, Ming; Boehm, Frederick; Thompson, Elizabeth A; Wijsman, Ellen M

Culture creates genetic structure in the Caucasus: autosomal, mitochondrial, and Y-chromosomal variation in Daghestan

文化塑造了高加索地区的遗传结构:达吉斯坦的常染色体、线粒体和Y染色体变异

Marchani, Elizabeth E; Watkins, W Scott; Bulayeva, Kazima; Harpending, Henry C; Jorde, Lynn B