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

Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs

癌症中等位基因特异性DNA甲基化增加,其在正常细胞和肿瘤细胞中的密集分布提高了疾病相关调控性SNP的检出率。

Do, Catherine; Dumont, Emmanuel L P; Salas, Martha; Castano, Angelica; Mujahed, Huthayfa; Maldonado, Leonel; Singh, Arunjot; DaSilva-Arnold, Sonia C; Bhagat, Govind; Lehman, Soren; Christiano, Angela M; Madhavan, Subha; Nagy, Peter L; Green, Peter H R; Feinman, Rena; Trimble, Cornelia; Illsley, Nicholas P; Marder, Karen; Honig, Lawrence; Monk, Catherine; Goy, Andre; Chow, Kar; Goldlust, Samuel; Kaptain, George; Siegel, David; Tycko, Benjamin

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy

一种与早发性肢带型肌营养不良症相关的新型非编码FKRP突变

Saylam, Ezgi; Moore, Steven A; Aravindhan, Akilandeswari; Marton, Heather; Nagy, Peter L; Gokden, Murat; Cox, Mary O; Stefans, Vikki; Veerapandiyan, Aravindhan

Blood group typing from whole-genome sequencing data

基于全基因组测序数据的血型分型

Paganini, Julien; Nagy, Peter L; Rouse, Nicholas; Gouret, Philippe; Chiaroni, Jacques; Picard, Chistophe; Di Cristofaro, Julie

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

导致吡哆醇依赖性癫痫的ALDH7A1基因突变的基因型谱:一种常见的癫痫性脑病

Coughlin, Curtis R 2nd; Swanson, Michael A; Spector, Elaine; Meeks, Naomi J L; Kronquist, Kathryn E; Aslamy, Mezhgan; Wempe, Michael F; van Karnebeek, Clara D M; Gospe, Sidney M Jr; Aziz, Verena G; Tsai, Becky P; Gao, Hanlin; Nagy, Peter L; Hyland, Keith; van Dooren, Silvy J M; Salomons, Gajja S; Van Hove, Johan L K

Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder

临床转录组测序证实疑似SYNGAP1相关疾病中隐蔽剪接位点的激活

Brimble, Elise; Lee-Messer, Christopher; Nagy, Peter L; Propst, Jennifer; Ruzhnikov, Maura R Z

Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant

科蒙多犬遗传性选择性钴胺素吸收不良与CUBN剪接位点变异相关

Fyfe, John C; Hemker, Shelby L; Frampton, Alycia; Raj, Karthik; Nagy, Peter L; Gibbon, Kristi J; Giger, Urs

Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations

将下一代测序技术应用于儿科血液肿瘤学实践:超越可操作的改变

Oberg, Jennifer A; Glade Bender, Julia L; Sulis, Maria Luisa; Pendrick, Danielle; Sireci, Anthony N; Hsiao, Susan J; Turk, Andrew T; Dela Cruz, Filemon S; Hibshoosh, Hanina; Remotti, Helen; Zylber, Rebecca J; Pang, Jiuhong; Diolaiti, Daniel; Koval, Carrie; Andrews, Stuart J; Garvin, James H; Yamashiro, Darrell J; Chung, Wendy K; Emerson, Stephen G; Nagy, Peter L; Mansukhani, Mahesh M; Kung, Andrew L

A histone H3K9M mutation traps histone methyltransferase Clr4 to prevent heterochromatin spreading

组蛋白H3K9M突变会捕获组蛋白甲基转移酶Clr4,从而阻止异染色质扩散。

Shan, Chun-Min; Wang, Jiyong; Xu, Ke; Chen, Huijie; Yue, Jia-Xing; Andrews, Stuart; Moresco, James J; Yates, John R; Nagy, Peter L; Tong, Liang; Jia, Songtao

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

导致前层粘蛋白A中ZMPSTE24切割位点消失的突变会引起早衰症。

Wang, Yuexia; Lichter-Konecki, Uta; Anyane-Yeboa, Kwame; Shaw, Jessica E; Lu, Jonathan T; Östlund, Cecilia; Shin, Ji-Yeon; Clark, Lorraine N; Gundersen, Gregg G; Nagy, Peter L; Worman, Howard J

Isoform-level brain expression profiling of the spermidine/spermine N1-Acetyltransferase1 (SAT1) gene in major depression and suicide

重度抑郁症和自杀中亚精胺/精胺N1-乙酰转移酶1 (SAT1) 基因的同工型脑表达谱分析

Pantazatos, Spiro P; Andrews, Stuart J; Dunning-Broadbent, Jane; Pang, Jiuhong; Huang, Yung-Yu; Arango, Victoria; Nagy, Peter L; John Mann, J