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

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

ATP5F1D(编码 ATP 合酶亚基)的双等位基因突变导致代谢紊乱

Monika Oláhová, Wan Hee Yoon, Kyle Thompson, Sharayu Jangam, Liliana Fernandez, Jean M Davidson, Jennifer E Kyle, Megan E Grove, Dianna G Fisk, Jennefer N Kohler, Matthew Holmes, Annika M Dries, Yong Huang, Chunli Zhao, Kévin Contrepois, Zachary Zappala, Laure Frésard, Daryl Waggott, Erika M Zink, Y

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

多个基因座的新生和罕见变异支持房室间隔心脏缺损的寡基因起源

James R Priest, Kazutoyo Osoegawa, Nebil Mohammed, Vivek Nanda, Ramendra Kundu, Kathleen Schultz, Edward J Lammer, Santhosh Girirajan, Todd Scheetz, Daryl Waggott, Francois Haddad, Sushma Reddy, Daniel Bernstein, Trudy Burns, Jeffrey D Steimle, Xinan H Yang, Ivan P Moskowitz, Matthew Hurles, Richard

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands

涎腺多形性低级别腺癌中的热点激活 PRKD1 体细胞突变

Ilan Weinreb, Salvatore Piscuoglio, Luciano G Martelotto, Daryl Waggott, Charlotte K Y Ng, Bayardo Perez-Ordonez, Nicholas J Harding, Javier Alfaro, Kenneth C Chu, Agnes Viale, Nicola Fusco, Arnaud da Cruz Paula, Caterina Marchio, Rita A Sakr, Raymond Lim, Lester D R Thompson, Simion I Chiosea, Raja

Integrated omic analysis of oropharyngeal carcinomas reveals human papillomavirus (HPV)-dependent regulation of the activator protein 1 (AP-1) pathway

口咽癌的综合组学分析揭示了人乳头瘤病毒 (HPV) 依赖的激活蛋白 1 (AP-1) 通路调控

Lusia Sepiashvili, Daryl Waggott, Angela Hui, Wei Shi, Susie Su, Alex Ignatchenko, Vladimir Ignatchenko, Marissa Laureano, Shao Hui Huang, Wei Xu, Ilan Weinreb, John Waldron, Brian O'Sullivan, Jonathan C Irish, Paul C Boutros, Fei-Fei Liu, Thomas Kislinger