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

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding

对血管性血友病因子抗原水平≤50 IU/dL的基因研究可识别与血管性血友病和出血风险增加相关的变异。

Friedman, Rachel K; Heath, Adam S; Huffman, Jennifer E; Baker, James T; Hasbani, Natalie R; Gagliano Taliun, Sarah A; Chen, Ming-Huei; Howard, Tom E; Lewis, Joshua P; Pankratz, Nathan; Patil, Snehal; Reiner, Alex P; Thibord, Florian; Yanek, Lisa R; Yao, Jie; Chen, Hung-Hsin; Curran, Joanne E; Faraday, Nauder; Guo, Xiuqing; Wheeler, Marsha M; Ryan, Kathleen A; Zhou, Xiang; Cho, Kelly; Almasy, Laura; Auer, Paul L; Becker, Lewis C; Wilson, Peter W F; Boerwinkle, Eric; O'Connell, Jeffrey R; Rich, Stephen S; Samuels, David C; Blangero, John; Fornage, Myriam; Kooperberg, Charles; Mathias, Rasika A; Mitchell, Braxton D; Rotter, Jerome I; Johnson, Andrew D; Smith, Nicholas L; Coban-Akdemir, Zeynep H; Below, Jennifer E; Morrison, Alanna C; Johnsen, Jill M; de Vries, Paul S

A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels

循环凝血因子VIII和血管性血友病因子水平的遗传关联研究

de Vries, Paul S; Reventun, Paula; Brown, Michael R; Heath, Adam S; Huffman, Jennifer E; Le, Ngoc-Quynh; Bebo, Allison; Brody, Jennifer A; Temprano-Sagrera, Gerard; Raffield, Laura M; Ozel, Ayse Bilge; Thibord, Florian; Jain, Deepti; Lewis, Joshua P; Rodriguez, Benjamin A T; Pankratz, Nathan; Taylor, Kent D; Polasek, Ozren; Chen, Ming-Huei; Yanek, Lisa R; Carrasquilla, German D; Marioni, Riccardo E; Kleber, Marcus E; Trégouët, David-Alexandre; Yao, Jie; Li-Gao, Ruifang; Joshi, Peter K; Trompet, Stella; Martinez-Perez, Angel; Ghanbari, Mohsen; Howard, Tom E; Reiner, Alex P; Arvanitis, Marios; Ryan, Kathleen A; Bartz, Traci M; Rudan, Igor; Faraday, Nauder; Linneberg, Allan; Ekunwe, Lynette; Davies, Gail; Delgado, Graciela E; Suchon, Pierre; Guo, Xiuqing; Rosendaal, Frits R; Klaric, Lucija; Noordam, Raymond; van Rooij, Frank; Curran, Joanne E; Wheeler, Marsha M; Osburn, William O; O'Connell, Jeffrey R; Boerwinkle, Eric; Beswick, Andrew; Psaty, Bruce M; Kolcic, Ivana; Souto, Juan Carlos; Becker, Lewis C; Hansen, Torben; Doyle, Margaret F; Harris, Sarah E; Moissl, Angela P; Deleuze, Jean-François; Rich, Stephen S; van Hylckama Vlieg, Astrid; Campbell, Harry; Stott, David J; Soria, Jose Manuel; de Maat, Moniek P M; Almasy, Laura; Brody, Lawrence C; Auer, Paul L; Mitchell, Braxton D; Ben-Shlomo, Yoav; Fornage, Myriam; Hayward, Caroline; Mathias, Rasika A; Kilpeläinen, Tuomas O; Lange, Leslie A; Cox, Simon R; März, Winfried; Morange, Pierre-Emmanuel; Rotter, Jerome I; Mook-Kanamori, Dennis O; Wilson, James F; van der Harst, Pim; Jukema, J Wouter; Ikram, M Arfan; Blangero, John; Kooperberg, Charles; Desch, Karl C; Johnson, Andrew D; Sabater-Lleal, Maria; Lowenstein, Charles J; Smith, Nicholas L; Morrison, Alanna C

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

“我们所有人”队列中致病变异的频率揭示了祖先因素造成的差异

Venner, Eric; Patterson, Karynne; Kalra, Divya; Wheeler, Marsha M; Chen, Yi-Ju; Kalla, Sara E; Yuan, Bo; Karnes, Jason H; Walker, Kimberly; Smith, Joshua D; McGee, Sean; Radhakrishnan, Aparna; Haddad, Andrew; Empey, Philip E; Wang, Qiaoyan; Lichtenstein, Lee; Toledo, Diana; Jarvik, Gail; Musick, Anjene; Gibbs, Richard A

Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

作者更正:All of Us队列中致病变异的频率揭示了祖先驱动的差异

Venner, Eric; Patterson, Karynne; Kalra, Divya; Wheeler, Marsha M; Chen, Yi-Ju; Kalla, Sara E; Yuan, Bo; Karnes, Jason H; Walker, Kimberly; Smith, Joshua D; McGee, Sean; Radhakrishnan, Aparna; Haddad, Andrew; Empey, Philip E; Wang, Qiaoyan; Lichtenstein, Lee; Toledo, Diana; Jarvik, Gail; Musick, Anjene; Gibbs, Richard A

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

43693个血液基因组中复发性体细胞突变的遗传决定因素

Weinstock, Joshua S; Laurie, Cecelia A; Broome, Jai G; Taylor, Kent D; Guo, Xiuqing; Shuldiner, Alan R; O'Connell, Jeffrey R; Lewis, Joshua P; Boerwinkle, Eric; Barnes, Kathleen C; Chami, Nathalie; Kenny, Eimear E; Loos, Ruth J F; Fornage, Myriam; Redline, Susan; Cade, Brian E; Gilliland, Frank D; Chen, Zhanghua; Gauderman, W James; Kumar, Rajesh; Grammer, Leslie; Schleimer, Robert P; Psaty, Bruce M; Bis, Joshua C; Brody, Jennifer A; Silverman, Edwin K; Yun, Jeong H; Qiao, Dandi; Weiss, Scott T; Lasky-Su, Jessica; DeMeo, Dawn L; Palmer, Nicholette D; Freedman, Barry I; Bowden, Donald W; Cho, Michael H; Vasan, Ramachandran S; Johnson, Andrew D; Yanek, Lisa R; Becker, Lewis C; Kardia, Sharon; He, Jiang; Kaplan, Robert; Heckbert, Susan R; Smith, Nicholas L; Wiggins, Kerri L; Arnett, Donna K; Irvin, Marguerite R; Tiwari, Hemant; Correa, Adolfo; Raffield, Laura M; Gao, Yan; de Andrade, Mariza; Rotter, Jerome I; Rich, Stephen S; Manichaikul, Ani W; Konkle, Barbara A; Johnsen, Jill M; Wheeler, Marsha M; Custer, Brian S; Duggirala, Ravindranath; Curran, Joanne E; Blangero, John; Gui, Hongsheng; Xiao, Shujie; Williams, L Keoki; Meyers, Deborah A; Li, Xingnan; Ortega, Victor; McGarvey, Stephen; Gu, C Charles; Chen, Yii-Der Ida; Lee, Wen-Jane; Shoemaker, M Benjamin; Darbar, Dawood; Roden, Dan; Albert, Christine; Kooperberg, Charles; Desai, Pinkal; Blackwell, Thomas W; Abecasis, Goncalo R; Smith, Albert V; Kang, Hyun M; Mathias, Rasika; Natarajan, Pradeep; Jaiswal, Siddhartha; Reiner, Alexander P; Bick, Alexander G

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

在一个五代家族中,FBN1基因深内含子变异与假外显子形成和马凡氏综合征表型变异相关。

Guo, Dong-Chuan; Duan, Xueyan; Mimnagh, Kathleen; Cecchi, Alana C; Marin, Isabella C; Yu, Yang; Velasco, Walter V; Lee, Kwanghyuk; Zhu, Xue; Murdock, David R; Leal, Suzanne M; Wheeler, Marsha M; Smith, Josh; Bamshad, Michael J; Milewicz, Dianna M

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

TOPMed数据库中109,122个祖先多样性全基因组序列的端粒长度遗传决定因素

Taub, Margaret A; Conomos, Matthew P; Keener, Rebecca; Iyer, Kruthika R; Weinstock, Joshua S; Yanek, Lisa R; Lane, John; Miller-Fleming, Tyne W; Brody, Jennifer A; Raffield, Laura M; McHugh, Caitlin P; Jain, Deepti; Gogarten, Stephanie M; Laurie, Cecelia A; Keramati, Ali; Arvanitis, Marios; Smith, Albert V; Heavner, Benjamin; Barwick, Lucas; Becker, Lewis C; Bis, Joshua C; Blangero, John; Bleecker, Eugene R; Burchard, Esteban G; Celedón, Juan C; Chang, Yen Pei C; Custer, Brian; Darbar, Dawood; de las Fuentes, Lisa; DeMeo, Dawn L; Freedman, Barry I; Garrett, Melanie E; Gladwin, Mark T; Heckbert, Susan R; Hidalgo, Bertha A; Irvin, Marguerite R; Islam, Talat; Johnson, W Craig; Kaab, Stefan; Launer, Lenore; Lee, Jiwon; Liu, Simin; Moscati, Arden; North, Kari E; Peyser, Patricia A; Rafaels, Nicholas; Seidman, Christine; Weeks, Daniel E; Wen, Fayun; Wheeler, Marsha M; Williams, L Keoki; Yang, Ivana V; Zhao, Wei; Aslibekyan, Stella; Auer, Paul L; Bowden, Donald W; Cade, Brian E; Chen, Zhanghua; Cho, Michael H; Cupples, L Adrienne; Curran, Joanne E; Daya, Michelle; Deka, Ranjan; Eng, Celeste; Fingerlin, Tasha E; Guo, Xiuqing; Hou, Lifang; Hwang, Shih-Jen; Johnsen, Jill M; Kenny, Eimear E; Levin, Albert M; Liu, Chunyu; Minster, Ryan L; Naseri, Take; Nouraie, Mehdi; Reupena, Muagututi'a Sefuiva; Sabino, Ester C; Smith, Jennifer A; Smith, Nicholas L; Su, Jessica Lasky; Taylor, James G; Telen, Marilyn J; Tiwari, Hemant K; Tracy, Russell P; White, Marquitta J; Zhang, Yingze; Wiggins, Kerri L; Weiss, Scott T; Vasan, Ramachandran S; Taylor, Kent D; Sinner, Moritz F; Silverman, Edwin K; Shoemaker, M Benjamin; Sheu, Wayne H-H; Sciurba, Frank; Schwartz, David A; Rotter, Jerome I; Roden, Daniel; Redline, Susan; Raby, Benjamin A; Psaty, Bruce M; Peralta, Juan M; Palmer, Nicholette D; Nekhai, Sergei; Montgomery, Courtney G; Mitchell, Braxton D; Meyers, Deborah A; McGarvey, Stephen T; Mak, Angel Cy; Loos, Ruth Jf; Kumar, Rajesh; Kooperberg, Charles; Konkle, Barbara A; Kelly, Shannon; Kardia, Sharon Lr; Kaplan, Robert; He, Jiang; Gui, Hongsheng; Gilliland, Frank D; Gelb, Bruce D; Fornage, Myriam; Ellinor, Patrick T; de Andrade, Mariza; Correa, Adolfo; Chen, Yii-Der Ida; Boerwinkle, Eric; Barnes, Kathleen C; Ashley-Koch, Allison E; Arnett, Donna K; Laurie, Cathy C; Abecasis, Goncalo; Nickerson, Deborah A; Wilson, James G; Rich, Stephen S; Levy, Daniel; Ruczinski, Ingo; Aviv, Abraham; Blackwell, Thomas W; Thornton, Timothy; O'Connell, Jeff; Cox, Nancy J; Perry, James A; Armanios, Mary; Battle, Alexis; Pankratz, Nathan; Reiner, Alexander P; Mathias, Rasika A

TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data

TOP-LD:一种利用TOPMed全基因组序列数据探索连锁不平衡的工具

Huang, Le; Rosen, Jonathan D; Sun, Quan; Chen, Jiawen; Wheeler, Marsha M; Zhou, Ying; Min, Yuan-I; Kooperberg, Charles; Conomos, Matthew P; Stilp, Adrienne M; Rich, Stephen S; Rotter, Jerome I; Manichaikul, Ani; Loos, Ruth J F; Kenny, Eimear E; Blackwell, Thomas W; Smith, Albert V; Jun, Goo; Sedlazeck, Fritz J; Metcalf, Ginger; Boerwinkle, Eric; Raffield, Laura M; Reiner, Alex P; Auer, Paul L; Li, Yun

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative

美国国家心肺血液研究所精准医学转化组学(TOPMed)计划中的血小板性状全基因组序列分析

Little, Amarise; Hu, Yao; Sun, Quan; Jain, Deepti; Broome, Jai; Chen, Ming-Huei; Thibord, Florian; McHugh, Caitlin; Surendran, Praveen; Blackwell, Thomas W; Brody, Jennifer A; Bhan, Arunoday; Chami, Nathalie; de Vries, Paul S; Ekunwe, Lynette; Heard-Costa, Nancy; Hobbs, Brian D; Manichaikul, Ani; Moon, Jee-Young; Preuss, Michael H; Ryan, Kathleen; Wang, Zhe; Wheeler, Marsha; Yanek, Lisa R; Abecasis, Goncalo R; Almasy, Laura; Beaty, Terri H; Becker, Lewis C; Blangero, John; Boerwinkle, Eric; Butterworth, Adam S; Choquet, Hélène; Correa, Adolfo; Curran, Joanne E; Faraday, Nauder; Fornage, Myriam; Glahn, David C; Hou, Lifang; Jorgenson, Eric; Kooperberg, Charles; Lewis, Joshua P; Lloyd-Jones, Donald M; Loos, Ruth J F; Min, Yuan-I; Mitchell, Braxton D; Morrison, Alanna C; Nickerson, Deborah A; North, Kari E; O'Connell, Jeffrey R; Pankratz, Nathan; Psaty, Bruce M; Vasan, Ramachandran S; Rich, Stephen S; Rotter, Jerome I; Smith, Albert V; Smith, Nicholas L; Tang, Hua; Tracy, Russell P; Conomos, Matthew P; Laurie, Cecelia A; Mathias, Rasika A; Li, Yun; Auer, Paul L; Thornton, Timothy; Reiner, Alexander P; Johnson, Andrew D; Raffield, Laura M