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

Frequency and clinical features of germline pathogenic variants in sarcoma: a case-control study

肉瘤中种系致病变异的频率和临床特征:一项病例对照研究

Rodriguez-Hernandez, Adela; Horiguchi, Miki; Horton, Carolyn; Polfus, Linda M; Bychkovsky, Brittany L; Buehler, Ryan M; George, Suzanne; Merriam, Priscilla; Garber, Judy E; Rana, Huma Q

Low Allele Frequency Variants Identified on Germline Multi-Gene Panel Testing for Cancer Predisposition Can Suggest the Presence of Constitutional Mosaicism

在针对癌症易感性的生殖系多基因检测中发现的低等位基因频率变异可能提示存在体质嵌合现象。

Rodriguez-Hernandez, Adela; Polfus, Linda M; Bychkovsky, Brittany L; Souders, Beth; Prat, Aleix; Adamo, Barbara; Garber, Judy E; Horton, Carolyn; Rana, Huma Q

Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program

接受基因检测计划的患者中的遗传性转甲状腺素蛋白淀粉样变性

Bhatt, Kunal; Delgado, Diego H; Khella, Sami; Bumma, Naresh; Karam, Chafic; Keller, Andrew; Rosen, Andrew M; Bozas, Ana; Shea, Amy; Towne, Meghan C; Polfus, Linda M; Kaeser, Gwendolyn E; Sanjurjo, Victoria; Shah, Keyur B

Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) Consortium

基于全基因组测序的炎症生物标志物分析:精准医学转化组学(TOPMed)联盟

Jiang, Min-Zhi; Gaynor, Sheila M; Li, Xihao; Van Buren, Eric; Stilp, Adrienne; Buth, Erin; Wang, Fei Fei; Manansala, Regina; Gogarten, Stephanie M; Li, Zilin; Polfus, Linda M; Salimi, Shabnam; Bis, Joshua C; Pankratz, Nathan; Yanek, Lisa R; Durda, Peter; Tracy, Russell P; Rich, Stephen S; Rotter, Jerome I; Mitchell, Braxton D; Lewis, Joshua P; Psaty, Bruce M; Pratte, Katherine A; Silverman, Edwin K; Kaplan, Robert C; Avery, Christy; North, Kari; Mathias, Rasika A; Faraday, Nauder; Lin, Honghuang; Wang, Biqi; Carson, April P; Norwood, Arnita F; Gibbs, Richard A; Kooperberg, Charles; Lundin, Jessica; Peters, Ulrike; Dupuis, Josée; Hou, Lifang; Fornage, Myriam; Benjamin, Emelia J; Reiner, Alexander P; Bowler, Russell P; Lin, Xihong; Auer, Paul L; Raffield, Laura M

Multi-ethnic GWAS and fine-mapping of glycaemic traits identify novel loci in the PAGE Study

多民族全基因组关联研究和血糖性状精细定位在PAGE研究中发现了新的基因位点。

Downie, Carolina G; Dimos, Sofia F; Bien, Stephanie A; Hu, Yao; Darst, Burcu F; Polfus, Linda M; Wang, Yujie; Wojcik, Genevieve L; Tao, Ran; Raffield, Laura M; Armstrong, Nicole D; Polikowsky, Hannah G; Below, Jennifer E; Correa, Adolfo; Irvin, Marguerite R; Rasmussen-Torvik, Laura J F; Carlson, Christopher S; Phillips, Lawrence S; Liu, Simin; Pankow, James S; Rich, Stephen S; Rotter, Jerome I; Buyske, Steven; Matise, Tara C; North, Kari E; Avery, Christy L; Haiman, Christopher A; Loos, Ruth J F; Kooperberg, Charles; Graff, Mariaelisa; Highland, Heather M

Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

对不同受试者进行全基因组测序,可识别白细胞性状的遗传相关性:NHLBI TOPMed 项目

Mikhaylova, Anna V; McHugh, Caitlin P; Polfus, Linda M; Raffield, Laura M; Boorgula, Meher Preethi; Blackwell, Thomas W; Brody, Jennifer A; Broome, Jai; Chami, Nathalie; Chen, Ming-Huei; Conomos, Matthew P; Cox, Corey; Curran, Joanne E; Daya, Michelle; Ekunwe, Lynette; Glahn, David C; Heard-Costa, Nancy; Highland, Heather M; Hobbs, Brian D; Ilboudo, Yann; Jain, Deepti; Lange, Leslie A; Miller-Fleming, Tyne W; Min, Nancy; Moon, Jee-Young; Preuss, Michael H; Rosen, Jonathon; Ryan, Kathleen; Smith, Albert V; Sun, Quan; Surendran, Praveen; de Vries, Paul S; Walter, Klaudia; Wang, Zhe; Wheeler, Marsha; Yanek, Lisa R; Zhong, Xue; Abecasis, Goncalo R; Almasy, Laura; Barnes, Kathleen C; Beaty, Terri H; Becker, Lewis C; Blangero, John; Boerwinkle, Eric; Butterworth, Adam S; Chavan, Sameer; Cho, Michael H; Choquet, Hélène; Correa, Adolfo; Cox, Nancy; DeMeo, Dawn L; Faraday, Nauder; Fornage, Myriam; Gerszten, Robert E; Hou, Lifang; Johnson, Andrew D; Jorgenson, Eric; Kaplan, Robert; Kooperberg, Charles; Kundu, Kousik; Laurie, Cecelia A; Lettre, Guillaume; Lewis, Joshua P; Li, Bingshan; Li, Yun; Lloyd-Jones, Donald M; Loos, Ruth J F; Manichaikul, Ani; Meyers, Deborah A; Mitchell, Braxton D; Morrison, Alanna C; Ngo, Debby; Nickerson, Deborah A; Nongmaithem, Suraj; North, Kari E; O'Connell, Jeffrey R; Ortega, Victor E; Pankratz, Nathan; Perry, James A; Psaty, Bruce M; Rich, Stephen S; Soranzo, Nicole; Rotter, Jerome I; Silverman, Edwin K; Smith, Nicholas L; Tang, Hua; Tracy, Russell P; Thornton, Timothy A; Vasan, Ramachandran S; Zein, Joe; Mathias, Rasika A; Reiner, Alexander P; Auer, Paul L

Risk of breast cancer and prediagnostic urinary excretion of bisphenol A, triclosan and parabens: The Multiethnic Cohort Study

乳腺癌风险与诊断前尿液中双酚A、三氯生和对羟基苯甲酸酯的排泄:多民族队列研究

Wu, Anna H; Franke, Adrian A; Wilkens, Lynne R; Tseng, Chiuchen; Conroy, Shannon M; Li, Yuqing; Sangaramoorthy, Meera; Polfus, Linda M; DeRouen, Mindy C; Caberto, Christian; Haiman, Christopher; Stram, Daniel O; Le Marchand, Loïc; Cheng, Iona

Genome-wide association study of pancreatic fat: The Multiethnic Cohort Adiposity Phenotype Study

全基因组关联研究:胰腺脂肪的多民族队列肥胖表型研究

Streicher, Samantha A; Lim, Unhee; Park, S Lani; Li, Yuqing; Sheng, Xin; Hom, Victor; Xia, Lucy; Pooler, Loreall; Shepherd, John; Loo, Lenora W M; Darst, Burcu F; Highland, Heather M; Polfus, Linda M; Bogumil, David; Ernst, Thomas; Buchthal, Steven; Franke, Adrian A; Setiawan, Veronica Wendy; Tiirikainen, Maarit; Wilkens, Lynne R; Haiman, Christopher A; Stram, Daniel O; Cheng, Iona; Le Marchand, Loïc

Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts

通过全基因组测序在多族裔队列中鉴定出CRP基因座的等位基因异质性

Raffield, Laura M; Iyengar, Apoorva K; Wang, Biqi; Gaynor, Sheila M; Spracklen, Cassandra N; Zhong, Xue; Kowalski, Madeline H; Salimi, Shabnam; Polfus, Linda M; Benjamin, Emelia J; Bis, Joshua C; Bowler, Russell; Cade, Brian E; Choi, Won Jung; Comellas, Alejandro P; Correa, Adolfo; Cruz, Pedro; Doddapaneni, Harsha; Durda, Peter; Gogarten, Stephanie M; Jain, Deepti; Kim, Ryan W; Kral, Brian G; Lange, Leslie A; Larson, Martin G; Laurie, Cecelia; Lee, Jiwon; Lee, Seonwook; Lewis, Joshua P; Metcalf, Ginger A; Mitchell, Braxton D; Momin, Zeineen; Muzny, Donna M; Pankratz, Nathan; Park, Cheol Joo; Rich, Stephen S; Rotter, Jerome I; Ryan, Kathleen; Seo, Daekwan; Tracy, Russell P; Viaud-Martinez, Karine A; Yanek, Lisa R; Zhao, Lue Ping; Lin, Xihong; Li, Bingshan; Li, Yun; Dupuis, Josée; Reiner, Alexander P; Mohlke, Karen L; Auer, Paul L

Whole genome sequence association with E-selectin levels reveals loss-of-function variant in African Americans.

全基因组序列与 E-选择素水平的关联分析揭示了非洲裔美国人中功能丧失的变异

Polfus Linda M, Raffield Laura M, Wheeler Marsha M, Tracy Russell P, Lange Leslie A, Lettre Guillaume, Miller Amanda, Correa Adolfo, Bowler Russell P, Bis Joshua C, Salimi Shabnam, Jenny Nancy Swords, Pankratz Nathan, Wang Biqi, Preuss Michael H, Zhou Lisheng, Moscati Arden, Nadkarni Girish N, Loos Ruth J F, Zhong Xue, Li Bingshan, Johnsen Jill M, Nickerson Deborah A, Reiner Alex P, Auer Paul L