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

Mondo: integrating disease terminology across communities

Mondo:整合跨社区的疾病术语

Vasilevsky, Nicole A; Toro, Sabrina; Matentzoglu, Nicolas; Flack, Joseph E; Mullen, Kathleen R; Hegde, Harshad; Gehrke, Sarah; Whetzel, Patricia L; Shwetar, Yousif; Harris, Nomi L; Ngu, Mee S; Alyea, Gioconda L; Kane, Megan S; Roncaglia, Paola; Sid, Eric; Thaxton, Courtney L; Wood, Valerie; Abraham, Roshini S; Achatz, Maria Isabel; Ajuyah, Pamela; Amberger, Joanna S; Babb, Lawrence; Baker, Jasmine; Balhoff, James P; Berg, Jonathan S; Bhalla, Amol; Bofill-De Ros, Xavier; Braun, Ian R; Broeren, Eleanor C; Byer, Blake K; Byrne, Alicia B; Callahan, Tiffany J; Carmody, Leigh C; Chan, Lauren E; Clause, Amanda R; Cohen, Julie S; DeLuca, Marcello; Deuitch, Natalie T; Flowers, May; Fraser, Jamie; Fujiwara, Toyofumi; Gitau, Vanessa; Goldstein, Jennifer L; Gration, Dylan; Groza, Tudor; Gyori, Benjamin M; Hankey, William; Hilton, Jason A; Himmelstein, Daniel S; Hong, Stephanie S; Hoyt, Charles T; Huether, Robert; Hurwitz, Eric; Jacobsen, Julius O B; Kikuchi, Atsuo; Köhler, Sebastian; Korn, Daniel R; Lagorce, David; Laraway, Bryan J; Li, Jane Y; Malheiro, Adriana J; McLaughlin, James; Meldal, Birgit H M; Mohan, Shruthi; Moxon, Sierra A T; Munoz-Torres, Monica C; Nelson, Tristan H; Nicholas, Frank W; Ochoa, David; Olson, Daniel; Oprea, Tudor I; Oskotsky, Tomiko T; Osumi-Sutherland, David; Paris, Kelley; Parkinson, Helen E; Pendlington, Zoë M; Peng, Xiao P; Pizzino, Amy; Plon, Sharon E; Powell, Bradford C; Ratliff, Julie C; Rehm, Heidi L; Remennik, Lyubov; Riggs, Erin R; Roberts, Sean; Robinson, Peter N; Ross, Justyne E; Schaper, Kevin; Schilder, Brian M; Schmidt, Johanna L; Sharp, Elliott W; Similuk, Morgan N; Smedley, Damian; Sneddon, Tam P; Sparks, Rachel; Stefancsik, Ray; Stupp, Gregory S; Sundar, Shilpa; Takatsuki, Terue; Tammen, Imke; Tshering, Kezang C; Unni, Deepak R; Valasek, Eloise; Vanderver, Adeline; Wagner, Alex H; Webb, Ryan F; Welter, Danielle; Yaya-Stupp, Doron; Zankl, Andreas; Zhang, Xingmin Aaron; McMurry, Julie A; Chute, Christopher G; Hamosh, Ada; Mungall, Christopher J; Haendel, Melissa A

Functional classification of platelet gene variants using CRISPR HDR in CD34(+) cell-derived megakaryocytes

利用CRISPR HDR技术对CD34(+)细胞来源的巨核细胞中的血小板基因变异进行功能分类

Kosaka, Yasuhiro; Lopez, Brandon; Kishimoto, Nina; Jacob, Shancy; Montenont, Emilie; Huallanca, Rodrigo; Coughenour, Graeson; Di Paola, Jorge; Ross, Justyne; Lee, Kristy; Rondina, Matthew T; Bray, Paul F; Rowley, Jesse W

Allosteric modulation of the Lon protease via ssDNA binding and local charge changes

通过单链DNA结合和局部电荷变化对Lon蛋白酶进行变构调节

Ogdahl, Justyne L; Chien, Peter

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2

ClinGen 重症联合免疫缺陷病变异注释专家组:ADA、DCLRE1C、IL2RG、IL7R、JAK3、RAG1 和 RAG2 变异分类规范

Jacovas, Vanessa C; Zelnick, Michelle; McNulty, Shannon; Ross, Justyne E; Khurana, Namrata; Pan, Xueyang; Nieto, Alejandro; Martin, Shiloh; McLean, Benjamin; Elnagheeb, Marwa A; Cowan, Morton J; Puck, Jennifer M; Hershfield, Mike; Verbsky, James; Walter, Jolan; Allenspach, Eric; Chan, Alice Y; van Oers, Nicolai S C; Ghosh, Rajarshi; Piazza, Megan; Yuan, Bo; Notarangelo, Luigi D; Johnson, Britt A; Chinn, Ivan K

Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework

利用临床基因组资源基因注释框架评估与止血和血栓形成相关的基因的临床有效性

Ross, Justyne E; Mohan, Shruthi; Zhang, Jing; Sullivan, Mia J; Bury, Loredana; Lee, Kristy; Futchi, Isabella; Frantz, Annabelle; McDougal, Dara; Perez Botero, Juliana; Cattaneo, Marco; Cooper, Nichola; Downes, Kate; Gresele, Paolo; Keenan, Catriona; Lee, Alfred I; Megy, Karyn; Morange, Pierre-Emmanuel; Morgan, Neil V; Schulze, Harald; Zimowski, Karen; Freson, Kathleen; Lambert, Michele P

The common VWF variant p.Y1584C: detailed pathogenic examination of an enigmatic sequence change

常见的VWF变异体p.Y1584C:对这一神秘序列变化的详细致病性分析

Christopherson, Pamela A; Tijet, Nathalie; Haberichter, Sandra L; Flood, Veronica H; Ross, Justyne; Notley, Colleen; Rawley, Orla; Montgomery, Robert R; James, Paula D; Lillicrap, David

X-ray Radiotherapy Impacts Cardiac Dysfunction by Modulating the Sympathetic Nervous System and Calcium Transients

射线放射治疗通过调节交感神经系统和钙瞬变来影响心脏功能障碍

Justyne Feat-Vetel, Nadine Suffee, Florence Bachelot, Morgane Dos Santos, Nathalie Mougenot, Elise Delage, Florian Saliou, Sabrina Martin, Isabelle Brunet, Pierre Sicard, Virginie Monceau

Allosteric modulation of the Lon protease by effector binding and local charges

效应物结合和局部电荷对 Lon 蛋白酶的变构调节

Ogdahl, Justyne L; Chien, Peter

XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors

XLF/Cernunnos 缺失通过改变神经祖细胞的对称增殖分裂损害小鼠大脑发育

Amandine Bery, Olivier Etienne, Laura Mouton, Sofiane Mokrani, Christine Granotier-Beckers, Laurent R Gauthier, Justyne Feat-Vetel, Thierry Kortulewski, Elodie A Pérès, Chantal Desmaze, Philippe Lestaveal, Vilma Barroca, Antony Laugeray, Fawzi Boumezbeur, Vincent Abramovski, Stéphane Mortaud, Arnaud

Clinical testing panels for ALS: global distribution, consistency, and challenges

肌萎缩侧索硬化症(ALS)临床检测组合:全球分布、一致性及挑战

Dilliott, Allison A; Al Nasser, Ahmad; Elnagheeb, Marwa; Fifita, Jennifer; Henden, Lyndal; Keseler, Ingrid M; Lenz, Steven; Marriott, Heather; Mccann, Emily; Mesaros, Maysen; Opie-Martin, Sarah; Owens, Emma; Palus, Brooke; Ross, Justyne; Wang, Zhanjun; White, Hannah; Al-Chalabi, Ammar; Andersen, Peter M; Benatar, Michael; Blair, Ian; Cooper-Knock, Johnathan; Harrington, Elizabeth A; Heckmann, Jeannine; Landers, John; Moreno, Cristiane; Nel, Melissa; Rampersaud, Evadnie; Roggenbuck, Jennifer; Rouleau, Guy; Traynor, Bryan; Van Blitterswijk, Marka; Van Rheenen, Wouter; Veldink, Jan; Weishaupt, Jochen; Drury, Luke; Harms, Matthew B; Farhan, Sali M K