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

Exploring autism spectrum disorder and co-occurring trait associations to elucidate multivariate genetic mechanisms and insights

探索自闭症谱系障碍及其共病特征之间的关联,以阐明多变量遗传机制和见解

Salenius, Karoliina; Väljä, Niina; Thusberg, Sini; Iris, Francois; Ladd-Acosta, Christine; Roos, Christophe; Nykter, Matti; Fasano, Alessio; Autio, Reija; Lin, Jake

Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

更正:Sherloc:ACMG-AMP变异分类标准的全面改进

Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

评估胱硫醚β-合成酶变体表型效应的计算预测

Kasak, Laura; Bakolitsa, Constantina; Hu, Zhiqiang; Yu, Changhua; Rine, Jasper; Dimster-Denk, Dago F; Pandey, Gaurav; De Baets, Greet; Bromberg, Yana; Cao, Chen; Capriotti, Emidio; Casadio, Rita; Van Durme, Joost; Giollo, Manuel; Karchin, Rachel; Katsonis, Panagiotis; Leonardi, Emanuela; Lichtarge, Olivier; Martelli, Pier Luigi; Masica, David; Mooney, Sean D; Olatubosun, Ayodeji; Radivojac, Predrag; Rousseau, Frederic; Pal, Lipika R; Savojardo, Castrense; Schymkowitz, Joost; Thusberg, Janita; Tosatto, Silvio C E; Vihinen, Mauno; Väliaho, Jouni; Repo, Susanna; Moult, John; Brenner, Steven E; Friedberg, Iddo

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria

Sherloc:ACMG-AMP变异分类标准的全面改进

Nykamp, Keith; Anderson, Michael; Powers, Martin; Garcia, John; Herrera, Blanca; Ho, Yuan-Yuan; Kobayashi, Yuya; Patil, Nila; Thusberg, Janita; Westbrook, Marjorie; Topper, Scott

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges

将表型与全基因组匹配:从个人基因组计划社区挑战的四次迭代中汲取的经验教训

Cai, Binghuang; Li, Biao; Kiga, Nikki; Thusberg, Janita; Bergquist, Timothy; Chen, Yun-Ching; Niknafs, Noushin; Carter, Hannah; Tokheim, Collin; Beleva-Guthrie, Violeta; Douville, Christopher; Bhattacharya, Rohit; Yeo, Hui Ting Grace; Fan, Jean; Sengupta, Sohini; Kim, Dewey; Cline, Melissa; Turner, Tychele; Diekhans, Mark; Zaucha, Jan; Pal, Lipika R; Cao, Chen; Yu, Chen-Hsin; Yin, Yizhou; Carraro, Marco; Giollo, Manuel; Ferrari, Carlo; Leonardi, Emanuela; Tosatto, Silvio C E; Bobe, Jason; Ball, Madeleine; Hoskins, Roger A; Repo, Susanna; Church, George; Brenner, Steven E; Moult, John; Gough, Julian; Stanke, Mario; Karchin, Rachel; Mooney, Sean D

In silico comparative characterization of pharmacogenomic missense variants

利用计算机模拟对药物基因组学错义变异体进行比较表征

Li, Biao; Seligman, Chet; Thusberg, Janita; Miller, Jackson L; Auer, Jim; Whirl-Carrillo, Michelle; Capriotti, Emidio; Klein, Teri E; Mooney, Sean D

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies

中链酰基辅酶A缺乏症:新生儿筛查、计算机模拟预测和分子研究概述

Catarzi, Serena; Caciotti, Anna; Thusberg, Janita; Tonin, Rodolfo; Malvagia, Sabrina; la Marca, Giancarlo; Pasquini, Elisabetta; Cavicchi, Catia; Ferri, Lorenzo; Donati, Maria A; Baronio, Federico; Guerrini, Renzo; Mooney, Sean D; Morrone, Amelia

An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects

唐氏综合征相关房室间隔缺损中VEGF-A通路基因有害变异过多。

Ackerman, Christine; Locke, Adam E; Feingold, Eleanor; Reshey, Benjamin; Espana, Karina; Thusberg, Janita; Mooney, Sean; Bean, Lora J H; Dooley, Kenneth J; Cua, Clifford L; Reeves, Roger H; Sherman, Stephanie L; Maslen, Cheryl L

Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death

人类动脉粥样硬化斑块中甾醇调节元件结合转录因子 (SREBF) 2 和 SREBF 裂解激活蛋白 (SCAP) 的表达及其等位基因变异与猝死的关联

Fan, Yue-Mei; Karhunen, Pekka J; Levula, Mari; Ilveskoski, Erkki; Mikkelsson, Jussi; Kajander, Olli A; Järvinen, Otso; Oksala, Niku; Thusberg, Janita; Vihinen, Mauno; Salenius, Juha-Pekka; Kytömäki, Leena; Soini, Juhani T; Laaksonen, Reijo; Lehtimäki, Terho