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

Rare variant analyses across multiethnic cohorts identify novel genes for refractive error

对多民族人群的罕见变异分析发现了与屈光不正相关的新基因。

Musolf, Anthony M; Haarman, Annechien E G; Luben, Robert N; Ong, Jue-Sheng; Patasova, Karina; Trapero, Rolando Hernandez; Marsh, Joseph; Jain, Ishika; Jain, Riya; Wang, Paul Zhiping; Lewis, Deyana D; Tedja, Milly S; Iglesias, Adriana I; Li, Hengtong; Cowan, Cameron S; Biino, Ginevra; Klein, Alison P; Duggal, Priya; Mackey, David A; Hayward, Caroline; Haller, Toomas; Metspalu, Andres; Wedenoja, Juho; Pärssinen, Olavi; Cheng, Ching-Yu; Saw, Seang-Mei; Stambolian, Dwight; Hysi, Pirro G; Khawaja, Anthony P; Vitart, Veronique; Hammond, Christopher J; van Duijn, Cornelia M; Verhoeven, Virginie J M; Klaver, Caroline C W; Bailey-Wilson, Joan E

A rare FGF5 candidate variant (rs112475347) for predisposition to nonsquamous, nonsmall-cell lung cancer

一种罕见的FGF5候选变异体(rs112475347)与非鳞状非小细胞肺癌的易感性相关

Cannon-Albright, Lisa A; Teerlink, Craig C; Stevens, Jeff; Facelli, Julio C; Carr, Shamus R; Allen-Brady, Kristina; Puri, Sonam; Bailey-Wilson, Joan E; Musolf, Anthony M; Akerley, Wallace

Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus

儿童期发病系统性红斑狼疮全基因组数据的传递不平衡分析

Vazzana, Kathleen M; Musolf, Anthony M; Bailey-Wilson, Joan E; Hiraki, Linda T; Silverman, Earl D; Scott, Christiaan; Dalgard, Clifton L; Hasni, Sarfaraz; Deng, Zuoming; Kaplan, Mariana J; Lewandowski, Laura B

A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly

在对一个患有唇腭裂和缺指畸形的叙利亚家族进行全外显子组测序时,发现了一种新的从头TP63突变。

Simpson, Claire L; Kimble, Danielle C; Chandrasekharappa, Settara C; Alqosayer, Khalid; Holzinger, Emily; Carrington, Blake; McElderry, John; Sood, Raman; Al-Souqi, Ghiath; Albacha-Hejazi, Hasan; Bailey-Wilson, Joan E

Complex N-Linked Glycosylation: A Potential Modifier of Niemann-Pick Disease, Type C1 Pathology.

复杂的 N-连接糖基化:尼曼-匹克病 C1 型病理的潜在修饰因子

Cawley Niamh X, Lyons Anna T, Abebe Daniel, Luke Rachel, Yerger Julia, Telese Rebecca, Wassif Christopher A, Bailey-Wilson Joan E, Porter Forbes D

Gene-level association analysis of ordinal traits with functional ordinal logistic regressions

利用功能性有序逻辑回归进行有序性状的基因水平关联分析

Chiu, Chi-Yang; Wang, Shuqi; Zhang, Bingsong; Luo, Yutong; Simpson, Claire; Zhang, Wei; Wilson, Alexander F; Bailey-Wilson, Joan E; Agron, Elvira; Chew, Emily Y; Zhang, Jun; Xiong, Momiao; Fan, Ruzong

What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics

什么造就好的预测?特征重要性以及如何揭开机器学习在遗传学领域的神秘面纱

Musolf, Anthony M; Holzinger, Emily R; Malley, James D; Bailey-Wilson, Joan E

Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk

全基因组相互作用分析发现,低频变异与肺癌风险的性别差异有关。

Li, Yafang; Xiao, Xiangjun; Li, Jianrong; Byun, Jinyoung; Cheng, Chao; Bossé, Yohan; McKay, James; Albanes, Demetrios; Lam, Stephen; Tardon, Adonina; Chen, Chu; Bojesen, Stig E; Landi, Maria T; Johansson, Mattias; Risch, Angela; Bickeböller, Heike; Wichmann, H-Erich; Christiani, David C; Rennert, Gad; Arnold, Susanne; Goodman, Gary; Field, John K; Davies, Michael P A; Shete, Sanjay S; Le Marchand, Loic; Melander, Olle; Brunnström, Hans; Liu, Geoffrey; Hung, Rayjean J; Andrew, Angeline S; Kiemeney, Lambertus A; Shen, Hongbing; Sun, Ryan; Zienolddiny, Shan; Grankvist, Kjell; Johansson, Mikael; Caporaso, Neil; Teare, Dawn M; Hong, Yun-Chul; Lazarus, Philip; Schabath, Matthew B; Aldrich, Melinda C; Schwartz, Ann G; Gorlov, Ivan; Purrington, Kristen; Yang, Ping; Liu, Yanhong; Han, Younghun; Bailey-Wilson, Joan E; Pinney, Susan M; Mandal, Diptasri; Willey, James C; Gaba, Colette; Brennan, Paul; Amos, Christopher I

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia

对 51624 名参与者进行全外显子组测序分析,鉴定出与屈光不正和近视相关的新基因和变异。

Guggenheim, Jeremy A; Clark, Rosie; Cui, Jiangtian; Terry, Louise; Patasova, Karina; Haarman, Annechien E G; Musolf, Anthony M; Verhoeven, Virginie J M; Klaver, Caroline C W; Bailey-Wilson, Joan E; Hysi, Pirro G; Williams, Cathy

Association analyses of rare variants identify two genes associated with refractive error

罕见变异关联分析鉴定出两个与屈光不正相关的基因。

Patasova, Karina; Haarman, Annechien E G; Musolf, Anthony M; Mahroo, Omar A; Rahi, Jugnoo S; Falchi, Mario; Verhoeven, Virginie J M; Bailey-Wilson, Joan E; Klaver, Caroline C W; Duggal, Priya; Klein, Alison; Guggenheim, Jeremy A; Hammond, Chris J; Hysi, Pirro G