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

A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis

与早发性骨关节炎相关的过度激活的促炎性RIPK2等位基因

Jurynec, Michael J; Sawitzke, Allen D; Beals, Timothy C; Redd, Michael J; Stevens, Jeff; Otterud, Brith; Leppert, Mark F; Grunwald, David Jonah

Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia

人类先天性膈疝中常见的是种系突变,而非体细胞新生突变。

Matsunami, Nori; Shanmugam, Hari; Baird, Lisa; Stevens, Jeff; Byrne, Janice L; Barnhart, Douglas C; Rau, Carrie; Feldkamp, Marcia L; Yoder, Bradley A; Leppert, Mark F; Yost, H Joseph; Brunelli, Luca

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

在高危自闭症家族中鉴定罕见DNA序列变异及其在大型病例/对照人群中的患病率

Matsunami, Nori; Hensel, Charles H; Baird, Lisa; Stevens, Jeff; Otterud, Brith; Leppert, Tami; Varvil, Tena; Hadley, Dexter; Glessner, Joseph T; Pellegrino, Renata; Kim, Cecilia; Thomas, Kelly; Wang, Fengxiang; Otieno, Frederick G; Ho, Karen; Christensen, Gerald B; Li, Dongying; Prekeris, Rytis; Lambert, Christophe G; Hakonarson, Hakon; Leppert, Mark F

Leukemia-associated minor histocompatibility antigen discovery using T-cell clones isolated by in vitro stimulation of naive CD8+ T cells

利用体外刺激幼稚CD8+ T细胞分离的T细胞克隆进行白血病相关次要组织相容性抗原的发现

Bleakley, Marie; Otterud, Brith E; Richardt, Julia L; Mollerup, Audrey D; Hudecek, Michael; Nishida, Tetsuya; Chaney, Colette N; Warren, Edus H; Leppert, Mark F; Riddell, Stanley R

Carriers of rare missense variants in IFIH1 are protected from psoriasis

携带IFIH1罕见错义变异的个体不会患银屑病。

Li, Yonghong; Liao, Wilson; Cargill, Michele; Chang, Monica; Matsunami, Nori; Feng, Bing-Jian; Poon, Annie; Callis-Duffin, Kristina P; Catanese, Joseph J; Bowcock, Anne M; Leppert, Mark F; Kwok, Pui-Yan; Krueger, Gerald G; Begovich, Ann B

Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer

在一个结直肠癌高发的大家族中,结直肠腺瘤和癌症与13q22.1-13q31.3染色体区域相关。

Neklason, Deborah W; Tuohy, Thérèse M; Stevens, Jeffery; Otterud, Brith; Baird, Lisa; Kerber, Richard A; Samowitz, Wade S; Kuwada, Scott K; Leppert, Mark F; Burt, Randall W

Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.

PDGFRA 基因失调导致流入道异常,包括 TAPVR:整合人类遗传学和模式生物的证据

Bleyl Steven B, Saijoh Yukio, Bax Noortje A M, Gittenberger-de Groot Adriana C, Wisse Lambertus J, Chapman Susan C, Hunter Jennifer, Shiratori Hidetaka, Hamada Hiroshi, Yamada Shigehito, Shiota Kohei, Klewer Scott E, Leppert Mark F, Schoenwolf Gary C

Do precursor polyp burdens help distinguish Lynch versus non-Lynch microsatellite unstable colorectal cancers?

癌前息肉负荷能否帮助区分林奇综合征型和非林奇综合征型微卫星不稳定结直肠癌?

Condie, Michelle W; Tuohy, Therese MF; Shires, Patricia; Burt, Randall W; Neklason, Deborah W; LaGuardia, Lisa; O'Malley, Margaret; Vogel, Jon D; Leach, Brandie; Burke, Carol; Kalady, Matthew; Church, James; Aronson, Melyssa; Stempak, Joanne; Silverberg, Mark; Semotiuk, Kara; Gryfe, Robert; Gallinger, Steven; Roberts, Aedan; Nancarrow, Derek; Buchanan, Daniel D; Clendenning, Mark; Duggan, David; McKeone, Diane; Walters, Rhiannon; Walsh, Michael D; Young, Bruce W; Jass, Jeremy R; Young, Joanne P; Lewandowski, Michelle S; Day, Thomas M; Christensen, Joslin; Tuohy, Therese MF; Kohlmann, Wendy; Neklason, Deborah W; Burt, Randall W; Bertario, Lucio; Sala, Paola; Radice, Paolo; Signoroni, Stefano; Ballardini, Giovanni; Meroni, Emanuele; Russo, Antonio; Kohlmann, Wendy; Pappas, Lisa M; Jasperson, Kory; Neklason, Deborah W; Burt, Randall W; Weitzel, Jeffrey N; Stoffel, Elena M; Burn, John; Mathers, John C; Gerdes, Anne-Marie; Bisgaard, MarieLuise; Evans, Gareth; Eccles, Diana; Lindblom, Annika; Macrae, Findlay; Maher, Eamonn R; Mecklin, Jukka-Pekka; Moslein, Gabriela; Olschwang, Sylviane; Ramesar, Raj; Vasen, Hans FA; Wijnen, Juul; Barker, Gail; Elliott, Faye; Lynch, Henry; Bishop, D Tim; Neklason, Deborah W; Tuohy, Therese M; Stevens, Jeffery; Otterud, Brith; Baird, Lisa; Kerber, Richard A; Samowitz, Wade S; Kuwada, Scott K; Leppert, Mark F; Burt, Randall W; Heald, Brandie; Mester, Jessica; Eng, Charis; Fox, Victor L; Perros, Stephen; Jiang, Hongyu; Goldsmith, Jeffrey; Dandapani, Monica; Rosenblatt, Margery; Chittenden, Anu; Mercado, Rowena; Garber, Judy E; Syngal, Sapna; Stoffel, Elena M; Cremin, Carol; Bashash, Morteza; Armstrong, Linlea; Gill, Sharlene; Huntsman, David; Bajdik, Chris; LaGuardia, Lisa; O'Malley, Margaret; Burke, Carol; Kalady, Matthew; Church, James; Kalady, Matthew F; Jarrar, Awad M; LaGuardia, Lisa; O'Malley, Margaret; Church, James M; Kalady, Matthew F; DeJulius, Kathryn; Bennett, Anna; Church, James M; Saraiya, Devki S; Vu, Thuy M; Askew, Robert L; Peterson, Susan K; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Aronson, Melyssa; Gallinger, Steve; Rothenmund, Heidi; Semotiuk, Kara; Holter, Spring; Berk, Terri; Pollett, Aaron; Cohen, Zane; Bapat, Bharati; Kim, Hyeja; Gryfe, Robert; Ricker, Charite; Klipfel, Nancy; Ault, Glenn; Roman, Lynda; Spicer, Darcy; Lenz, Heinz-Josef; Wise, Paul; Sturgeon, Duveen; Ness, Reid; Shenal, Janet; McGannon, Ellen; Fay, Susan; Arroyo, Loretta; Church, James M; Ricker, Charite; Ault, Glenn; El-Khoureiy, Anthony; Iqbal, Syma; Spicer, Darcy; Lenz, Heinz-Josef; Chittenden, Anu; Goldberg, Joel E; Hornick, Jason L; Stoffel, Elena M; Blanco, Amie M; Chen, Yunn-Yi; Grenert, James P; Thibodeau, Stephen N; Terdiman, Jonathan P; Tuohy, Therese MF; Pimentel, Richard; Rowe, Kerry; Burt, Randall; Mineau, Geraldine; Yurgelun, Matthew B; Mercado, Rowena; Rosenblatt, Margery; Garber, Judy E; Syngal, Sapna; Stoffel, Elena M; Perrier, Renee L; Van Galen, Paulein; Pasieka, Janice L; Magliocco, Tony; Innes, A Micheil; Pande, Mala; Frazier, Marsha L; Lynch, Patrick M; Broaddus, Russell; Amos, Christopher I; O'Malley, Margaret; LaGuardia, Lisa; Naugle, Richard; Gensur, Cynthia; Hammel, Jeff; Church, James; Burke, Carol; O'Malley, Margaret; LaGuardia, Lisa; Naugle, Richard; Gensur, Cynthia; Hammel, Jeff; Church, James; Burke, Carol; Neklason, Deborah W; Milash, Brett A; Tuohy, Therese M; Lilley, Jennifer; Burt, Randall W; Messick, Craig; Church, James M; Casey, Graham; Kalady, Matthew F

The association of cell cycle checkpoint 2 variants and kidney function: findings of the Family Blood Pressure Program and the Atherosclerosis Risk In Communities study

细胞周期检查点 2 变异与肾功能的关系:家庭血压计划和社区动脉粥样硬化风险研究的发现

Franceschini, Nora; North, Kari E; Arnett, Donna; Pankow, James S; Chung, Jay H; Baird, Lisa; Leppert, Mark F; Eckfeldt, John H; Boerwinkle, Eric; Gu, C Charles; Lewis, Cora E; Myers, Richard H; Turner, Stephen T; Weder, Alan; Kao, W H Linda; Mosley, Thomas H; Chakravarti, Aravinda; Kramer, Holly; Zhang, Jinghui; Hunt, Steven C

American founder mutation for attenuated familial adenomatous polyposis

美国创始人突变导致家族性腺瘤性息肉病

Neklason, Deborah W; Stevens, Jeffery; Boucher, Kenneth M; Kerber, Richard A; Matsunami, Nori; Barlow, Jahn; Mineau, Geraldine; Leppert, Mark F; Burt, Randall W