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

Identification and functional validation of rare coding variants in genes linked to monogenic obesity.

鉴定和功能验证与单基因肥胖相关的基因中的罕见编码变异

Köroğlu Çiğdem, Traurig Michael, Muller Yunhua L, Day Samantha E, Piaggi Paolo, Wiedrich Kim, Vazquez Laura, Hanson Robert L, Van Hout Cristopher V, Alkelai Anna, Shuldiner Alan R, Bogardus Clifton, Baier Leslie J

Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians

临床病例研究与人群队列研究相结合:在奥克尼群岛居民中发现 BRCA1 致病性创始变异

Kerr, Shona M; Cowan, Emma; Klaric, Lucija; Bell, Christine; O'Sullivan, Dawn; Buchanan, David; Grzymski, Joseph J; van Hout, Cristopher V; Tzoneva, Gannie; Shuldiner, Alan R; Wilson, James F; Miedzybrodzka, Zosia

Leveraging phenotypic variability to identify genetic interactions in human phenotypes

利用表型变异性来识别人类表型中的基因相互作用

Marderstein, Andrew R; Davenport, Emily R; Kulm, Scott; Van Hout, Cristopher V; Elemento, Olivier; Clark, Andrew G

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

Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records

基于电子健康记录的临床特征亲本来源特异性关联的全基因组调查

Kim, Hye In; Ye, Bin; Staples, Jeffrey; Marcketta, Anthony; Gao, Chuan; Shuldiner, Alan R; Van Hout, Cristopher V

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

对英国生物银行中 49,960 名个体进行外显子组测序和特征分析

Van Hout, Cristopher V; Tachmazidou, Ioanna; Backman, Joshua D; Hoffman, Joshua D; Liu, Daren; Pandey, Ashutosh K; Gonzaga-Jauregui, Claudia; Khalid, Shareef; Ye, Bin; Banerjee, Nilanjana; Li, Alexander H; O'Dushlaine, Colm; Marcketta, Anthony; Staples, Jeffrey; Schurmann, Claudia; Hawes, Alicia; Maxwell, Evan; Barnard, Leland; Lopez, Alexander; Penn, John; Habegger, Lukas; Blumenfeld, Andrew L; Bai, Xiaodong; O'Keeffe, Sean; Yadav, Ashish; Praveen, Kavita; Jones, Marcus; Salerno, William J; Chung, Wendy K; Surakka, Ida; Willer, Cristen J; Hveem, Kristian; Leader, Joseph B; Carey, David J; Ledbetter, David H; Cardon, Lon; Yancopoulos, George D; Economides, Aris; Coppola, Giovanni; Shuldiner, Alan R; Balasubramanian, Suganthi; Cantor, Michael; Nelson, Matthew R; Whittaker, John; Reid, Jeffrey G; Marchini, Jonathan; Overton, John D; Scott, Robert A; Abecasis, Gonçalo R; Yerges-Armstrong, Laura; Baras, Aris

Assessment of the potential role of natural selection in type 2 diabetes and related traits across human continental ancestry groups: comparison of phenotypic with genotypic divergence

评估自然选择在人类大陆祖先群体中2型糖尿病及相关性状的潜在作用:表型与基因型差异的比较

Hanson, Robert L; Van Hout, Cristopher V; Hsueh, Wen-Chi; Shuldiner, Alan R; Kobes, Sayuko; Sinha, Madhumita; Baier, Leslie J; Knowler, William C

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US

对美国西南部6716名美洲印第安人的外显子组变异及其代谢影响进行表征

Kim, Hye In; Ye, Bin; Gosalia, Nehal; Köroğlu, Çiğdem; Hanson, Robert L; Hsueh, Wen-Chi; Knowler, William C; Baier, Leslie J; Bogardus, Clifton; Shuldiner, Alan R; Van Hout, Cristopher V

Exome Sequencing Identifies A Nonsense Variant in DAO Associated With Reduced Energy Expenditure in American Indians

外显子组测序鉴定出 DAO 中的一种无义变异,该变异与美洲印第安人的能量消耗减少有关

Paolo Piaggi, Çiğdem Köroğlu, Anup K Nair, Jeff Sutherland, Yunhua L Muller, Pankaj Kumar, Wen-Chi Hsueh, Sayuko Kobes, Alan R Shuldiner, Hye In Kim, Nehal Gosalia, Cristopher V Van Hout, Marcus Jones, William C Knowler, Jonathan Krakoff, Robert L Hanson, Clifton Bogardus, Leslie J Baier

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

ANGPTL4 基因失活可改善葡萄糖稳态,并与降低糖尿病风险相关

Viktoria Gusarova, Colm O'Dushlaine, Tanya M Teslovich, Peter N Benotti, Tooraj Mirshahi, Omri Gottesman, Cristopher V Van Hout, Michael F Murray, Anubha Mahajan, Jonas B Nielsen, Lars Fritsche, Anders Berg Wulff, Daniel F Gudbjartsson, Marketa Sjögren, Connor A Emdin, Robert A Scott, Wen-Jane Lee,