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

Leveraging Natural Language Processing to Accurately Identify Histologically Confirmed Esophageal and Gastric Premalignant and Malignant Conditions Using a Large-Scale Health-Record Linked Genomic Biobank

利用自然语言处理技术,通过大规模健康记录关联的基因组生物样本库,准确识别经组织学确诊的食管和胃癌前病变及恶性肿瘤。

Giera, Aaron; Markianos, Kyriacos; Gawron, Andrew J; Gupta, Samir; Pyarajan, Saiju; Karnam, Purushotham; Liu, Lin; Shah, Shailja C

Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries

全基因组关联分析揭示了不同种族人群中与年龄相关性黄斑变性相关的独特遗传结构

Gorman, Bryan R; Voloudakis, Georgios; Igo, Robert P Jr; Kinzy, Tyler; Halladay, Christopher W; Bigdeli, Tim B; Zeng, Biao; Venkatesh, Sanan; Cooke Bailey, Jessica N; Crawford, Dana C; Markianos, Kyriacos; Dong, Frederick; Schreiner, Patrick A; Zhang, Wen; Hadi, Tamer; Anger, Matthew D; Stockwell, Amy; Melles, Ronald B; Yin, Jie; Choquet, Hélène; Kaye, Rebecca; Patasova, Karina; Patel, Praveen J; Yaspan, Brian L; Jorgenson, Eric; Hysi, Pirro G; Lotery, Andrew J; Gaziano, J Michael; Tsao, Philip S; Fliesler, Steven J; Sullivan, Jack M; Greenberg, Paul B; Wu, Wen-Chih; Assimes, Themistocles L; Pyarajan, Saiju; Roussos, Panos; Peachey, Neal S; Iyengar, Sudha K

A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation

一项针对 Fuchs 角膜营养不良的多种族全基因组关联研究 (GWAS) 突显了层粘连蛋白、胶原蛋白和内皮细胞调控的作用。

Gorman, Bryan R; Francis, Michael; Nealon, Cari L; Halladay, Christopher W; Duro, Nalvi; Markianos, Kyriacos; Genovese, Giulio; Hysi, Pirro G; Choquet, Hélène; Afshari, Natalie A; Li, Yi-Ju; Gaziano, J Michael; Hung, Adriana M; Wu, Wen-Chih; Greenberg, Paul B; Pyarajan, Saiju; Lass, Jonathan H; Peachey, Neal S; Iyengar, Sudha K

Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility

主要组织相容性基因座的自身免疫等位基因改变黑色素瘤易感性

James V Talwar, David Laub, Meghana S Pagadala, Andrea Castro, McKenna Lewis, Georg E Luebeck, Bryan R Gorman, Cuiping Pan, Frederick N Dong, Kyriacos Markianos, Craig C Teerlink, Julie Lynch, Richard Hauger, Saiju Pyarajan, Philip S Tsao, Gerald P Morris, Rany M Salem, Wesley K Thompson, Kit Curtiu

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

纯合缺失表明非编码表观遗传标记与自闭症谱系障碍有关

Schmitz-Abe, Klaus; Sanchez-Schmitz, Guzman; Doan, Ryan N; Hill, R Sean; Chahrour, Maria H; Mehta, Bhaven K; Servattalab, Sarah; Ataman, Bulent; Lam, Anh-Thu N; Morrow, Eric M; Greenberg, Michael E; Yu, Timothy W; Walsh, Christopher A; Markianos, Kyriacos

Biallelic mutations in human DCC cause developmental split-brain syndrome

人类DCC基因的双等位基因突变会导致发育性裂脑综合征。

Jamuar, Saumya S; Schmitz-Abe, Klaus; D'Gama, Alissa M; Drottar, Marie; Chan, Wai-Man; Peeva, Maya; Servattalab, Sarah; Lam, Anh-Thu N; Delgado, Mauricio R; Clegg, Nancy J; Zayed, Zayed Al; Dogar, Mohammad Asif; Alorainy, Ibrahim A; Jamea, Abdullah Abu; Abu-Amero, Khaled; Griebel, May; Ward, Wendy; Lein, Ed S; Markianos, Kyriacos; Barkovich, A James; Robson, Caroline D; Grant, P Ellen; Bosley, Thomas M; Engle, Elizabeth C; Walsh, Christopher A; Yu, Timothy W

Ringed sideroblasts in β-thalassemia

β-地中海贫血中的环状铁粒幼细胞

Cattivelli, Kim; Campagna, Dean R; Schmitz-Abe, Klaus; Heeney, Matthew M; Yaish, Hassan M; Caruso Brown, Amy E; Kearney, Susan; Walkovich, Kelly; Markianos, Kyriacos; Fleming, Mark D; Neufeld, Ellis J

Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity

碱基切除修复酶NEIL3的缺乏会导致自身免疫性疾病易感性增加

Michel J Massaad, Jia Zhou, Daisuke Tsuchimoto, Janet Chou, Haifa Jabara, Erin Janssen, Salomé Glauzy, Brennan G Olson, Henner Morbach, Toshiro K Ohsumi, Klaus Schmitz, Markianos Kyriacos, Jennifer Kane, Kumiko Torisu, Yusaku Nakabeppu, Luigi D Notarangelo, Eliane Chouery, Andre Megarbane, Peter B Kang, Eman Al-Idrissi, Hasan Aldhekri, Eric Meffre, Masayuki Mizui, George C Tsokos, John P Manis, Waleed Al-Herz, Susan S Wallace, Raif S Geha

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

线粒体加工肽酶 α 蛋白 (PMPCA) 的底物结合富含甘氨酸环发生突变,可导致严重的线粒体疾病

Mugdha Joshi, Irina Anselm, Jiahai Shi, Tejus A Bale, Meghan Towne, Klaus Schmitz-Abe, Laura Crowley, Felix C Giani, Shideh Kazerounian, Kyriacos Markianos, Hart G Lidov, Rebecca Folkerth, Vijay G Sankaran, Pankaj B Agrawal

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

LARS2 变异与积水、乳酸性酸中毒、铁粒幼细胞贫血和多系统衰竭相关

Lisa G Riley, Joëlle Rudinger-Thirion, Klaus Schmitz-Abe, David R Thorburn, Ryan L Davis, Juliana Teo, Susan Arbuckle, Sandra T Cooper, Dean R Campagna, Magali Frugier, Kyriacos Markianos, Carolyn M Sue, Mark D Fleming, John Christodoulou