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

Plasma GFAP and p‐tau 181 were closely linked with longitudinal synaptic loss and cognition decline

血浆GFAP和p-tau 181与纵向突触丢失和认知能力下降密切相关

Schrijver, Iris; Aziz, Nazneen; Farkas, Daniel H; Furtado, Manohar; Gonzalez, Andrea Ferreira; Greiner, Timothy C; Grody, Wayne W; Hambuch, Tina; Kalman, Lisa; Kant, Jeffrey A; Klein, Roger D; Leonard, Debra G B; Lubin, Ira M; Mao, Rong; Nagan, Narasimhan; Pratt, Victoria M; Sobel, Mark E; Voelkerding, Karl V; Gibson, Jane S; Cui, Mei; Jin, Zishuo; Wang, Yingzhe; Dong, Qiang; Wang, Jie

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project

创建专家精选变异列表以用于临床基因组检测的开发和验证:ClinGen 和 GeT-RM 的合作项目

Wilcox, Emma; Harrison, Steven M; Lockhart, Edward; Voelkerding, Karl; Lubin, Ira M; Rehm, Heidi L; Kalman, Lisa V; Funke, Birgit

Ikaros family zinc finger 1 regulates dendritic cell development and function in humans

Ikaros 家族锌指 1 调节人类树突状细胞的发育和功能

Urszula Cytlak, Anastasia Resteu, Delfien Bogaert, Hye Sun Kuehn, Thomas Altmann, Andrew Gennery, Graham Jackson, Attila Kumanovics, Karl V Voelkerding, Seraina Prader, Melissa Dullaers, Janine Reichenbach, Harry Hill, Filomeen Haerynck, Sergio D Rosenzweig, Matthew Collin, Venetia Bigley

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

利用新一代测序技术发现的新型PLP1突变拓展了PLP1相关脑白质营养不良的临床表型谱

Margraf, Rebecca L; Durtschi, Jacob; Krock, Bryan; Newcomb, Tara M; Bonkowsky, Joshua L; Voelkerding, Karl V; Bayrak-Toydemir, Pinar; Lutz, Richard E; Swoboda, Kathryn J

Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists

基于下一代测序的肿瘤检测组合验证指南:分子病理学协会和美国病理学家协会的联合共识建议

Jennings, Lawrence J; Arcila, Maria E; Corless, Christopher; Kamel-Reid, Suzanne; Lubin, Ira M; Pfeifer, John; Temple-Smolkin, Robyn L; Voelkerding, Karl V; Nikiforova, Marina N

Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings

规范临床环境中下一代测序变异文件使用的原则和建议

Lubin, Ira M; Aziz, Nazneen; Babb, Lawrence J; Ballinger, Dennis; Bisht, Himani; Church, Deanna M; Cordes, Shaun; Eilbeck, Karen; Hyland, Fiona; Kalman, Lisa; Landrum, Melissa; Lockhart, Edward R; Maglott, Donna; Marth, Gabor; Pfeifer, John D; Rehm, Heidi L; Roy, Somak; Tezak, Zivana; Truty, Rebecca; Ullman-Cullere, Mollie; Voelkerding, Karl V; Worthey, Elizabeth A; Zaranek, Alexander W; Zook, Justin M

Good laboratory practice for clinical next-generation sequencing informatics pipelines

临床二代测序信息学流程的良好实验室规范

Gargis, Amy S; Kalman, Lisa; Bick, David P; da Silva, Cristina; Dimmock, David P; Funke, Birgit H; Gowrisankar, Sivakumar; Hegde, Madhuri R; Kulkarni, Shashikant; Mason, Christopher E; Nagarajan, Rakesh; Voelkerding, Karl V; Worthey, Elizabeth A; Aziz, Nazneen; Barnes, John; Bennett, Sarah F; Bisht, Himani; Church, Deanna M; Dimitrova, Zoya; Gargis, Shaw R; Hafez, Nabil; Hambuch, Tina; Hyland, Fiona C L; Luna, Ruth Ann; MacCannell, Duncan; Mann, Tobias; McCluskey, Megan R; McDaniel, Timothy K; Ganova-Raeva, Lilia M; Rehm, Heidi L; Reid, Jeffrey; Campo, David S; Resnick, Richard B; Ridge, Perry G; Salit, Marc L; Skums, Pavel; Wong, Lee-Jun C; Zehnbauer, Barbara A; Zook, Justin M; Lubin, Ira M

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

序列变异解读的标准和指南:美国医学遗传学和基因组学学会与分子病理学协会的联合共识建议

Richards, Sue; Aziz, Nazneen; Bale, Sherri; Bick, David; Das, Soma; Gastier-Foster, Julie; Grody, Wayne W; Hegde, Madhuri; Lyon, Elaine; Spector, Elaine; Voelkerding, Karl; Rehm, Heidi L

Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders

识别先前诊断为常见变异型免疫缺陷病且携带 RAG 基因突变的患者

Buchbinder, David; Baker, Rebecca; Lee, Yu Nee; Ravell, Juan; Zhang, Yu; McElwee, Joshua; Nugent, Diane; Coonrod, Emily M; Durtschi, Jacob D; Augustine, Nancy H; Voelkerding, Karl V; Csomos, Krisztian; Rosen, Lindsey; Browne, Sarah; Walter, Jolan E; Notarangelo, Luigi D; Hill, Harry R; Kumánovics, Attila

A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data

一种用于分析家系序列数据的连锁分析和罕见变异关联分析的统一检验方法

Hu, Hao; Roach, Jared C; Coon, Hilary; Guthery, Stephen L; Voelkerding, Karl V; Margraf, Rebecca L; Durtschi, Jacob D; Tavtigian, Sean V; Shankaracharya; Wu, Wilfred; Scheet, Paul; Wang, Shuoguo; Xing, Jinchuan; Glusman, Gustavo; Hubley, Robert; Li, Hong; Garg, Vidu; Moore, Barry; Hood, Leroy; Galas, David J; Srivastava, Deepak; Reese, Martin G; Jorde, Lynn B; Yandell, Mark; Huff, Chad D