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

RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases

RNA测序为以往无法确诊的罕见病病例提供了功能性见解和诊断依据。

Lewis, Robert G; O'Shea, John M; Pizzo, Lucilla; Wen, Ting; Fulmer, Makenzie L; Zhao, Jian; Verheijen, Jan; Zhang, Chaofan; Velinder, Matt; Nicholas, Thomas J; Boyden, Steven E; Ward, Alistair; Baldwin, Erin E; Andrews, Ashley; Ruiz, Joselin Hernandez; Marchetti, Marco; Viskochil, David; Carey, John C; Bleyl, Steven B; Butterfield, Russell J; Taliercio, Vanina; Botto, Lorenzo D; Mao, Rong; Bayrak-Toydemir, Pinar

SON-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of PRRT2

SON相关朱-时田-竹之内-金综合征伴复发性偏瘫性偏头痛:PRRT2的潜在作用

Langford, Jordan; Vukadin, Lana; Carey, John C; Botto, Lorenzo D; Velinder, Matt; Mao, Rong; Miller, Christine E; Filloux, Francis; Ahn, Eun-Young Erin

Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics

Clin.iobio:一种支持团队协作的精准基因组学诊断工作流程

Ward, Alistair; Velinder, Matt; Di Sera, Tonya; Ekawade, Aditya; Malone Jenkins, Sabrina; Moore, Barry; Mao, Rong; Bayrak-Toydemir, Pinar; Marth, Gabor

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

用于发现未确诊病例中解释性变异的计算工作流程的共性

Kobren, Shilpa Nadimpalli; Baldridge, Dustin; Velinder, Matt; Krier, Joel B; LeBlanc, Kimberly; Esteves, Cecilia; Pusey, Barbara N; Züchner, Stephan; Blue, Elizabeth; Lee, Hane; Huang, Alden; Bastarache, Lisa; Bican, Anna; Cogan, Joy; Marwaha, Shruti; Alkelai, Anna; Murdock, David R; Liu, Pengfei; Wegner, Daniel J; Paul, Alexander J; Sunyaev, Shamil R; Kohane, Isaac S

Effective variant filtering and expected candidate variant yield in studies of rare human disease

罕见病研究中有效的变异过滤和预期候选变异产量

Pedersen, Brent S; Brown, Joe M; Dashnow, Harriet; Wallace, Amelia D; Velinder, Matt; Tristani-Firouzi, Martin; Schiffman, Joshua D; Tvrdik, Tatiana; Mao, Rong; Best, D Hunter; Bayrak-Toydemir, Pinar; Quinlan, Aaron R

Genomic analyses implicate noncoding de novo variants in congenital heart disease

基因组分析表明,非编码新生变异与先天性心脏病有关。

Richter, Felix; Morton, Sarah U; Kim, Seong Won; Kitaygorodsky, Alexander; Wasson, Lauren K; Chen, Kathleen M; Zhou, Jian; Qi, Hongjian; Patel, Nihir; DePalma, Steven R; Parfenov, Michael; Homsy, Jason; Gorham, Joshua M; Manheimer, Kathryn B; Velinder, Matthew; Farrell, Andrew; Marth, Gabor; Schadt, Eric E; Kaltman, Jonathan R; Newburger, Jane W; Giardini, Alessandro; Goldmuntz, Elizabeth; Brueckner, Martina; Kim, Richard; Porter, George A Jr; Bernstein, Daniel; Chung, Wendy K; Srivastava, Deepak; Tristani-Firouzi, Martin; Troyanskaya, Olga G; Dickel, Diane E; Shen, Yufeng; Seidman, Jonathan G; Seidman, Christine E; Gelb, Bruce D

ped_draw: pedigree drawing with ease

ped_draw:轻松绘制血统图

Velinder, Matt; Lee, Dillon; Marth, Gabor

Growth Factor Independence 1B-Mediated Transcriptional Repression and Lineage Allocation Require Lysine-Specific Demethylase 1-Dependent Recruitment of the BHC Complex

生长因子独立性1B介导的转录抑制和谱系分配需要赖氨酸特异性去甲基酶1依赖的BHC复合物募集。

David McClellan ,Mattie J Casey ,Diana Bareyan ,Helena Lucente ,Christopher Ours ,Matthew Velinder ,Jason Singer ,Mehraju Din Lone ,Wenxiang Sun ,Yunuen Coria ,Clinton C Mason ,Michael E Engel

Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists

Genepanel.iobio——一个易于使用的网络工具,用于生成与疾病和表型相关的基因列表。

Ekawade, Aditya; Velinder, Matt; Ward, Alistair; DiSera, Tonya; Miller, Chase; Qiao, Yi; Marth, Gabor

GFI1 functions in transcriptional control and cell fate determination require SNAG domain methylation to recruit LSD1

GFI1 在转录调控和细胞命运决定中发挥作用,这需要 SNAG 结构域甲基化来募集 LSD1。

Velinder, Matthew; Singer, Jason; Bareyan, Diana; Meznarich, Jessica; Tracy, Christopher M; Fulcher, James M; McClellan, David; Lucente, Helena; Franklin, Sarah; Sharma, Sunil; Engel, Michael E