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

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

GRIN2A 基因突变与早发性癫痫性脑病:美金刚个体化治疗

Pierson, Tyler Mark; Yuan, Hongjie; Marsh, Eric D; Fuentes-Fajardo, Karin; Adams, David R; Markello, Thomas; Golas, Gretchen; Simeonov, Dimitre R; Holloman, Conisha; Tankovic, Anel; Karamchandani, Manish M; Schreiber, John M; Mullikin, James C; Tifft, Cynthia J; Toro, Camilo; Boerkoel, Cornelius F; Traynelis, Stephen F; Gahl, William A

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

外显子组测序作为诊断工具在未确诊的青少年发病型GM1神经节苷脂病中的应用

Pierson, Tyler Mark; Adams, David A; Markello, Thomas; Golas, Gretchen; Yang, Sandra; Sincan, Murat; Simeonov, Dimitre R; Fuentes Fajardo, Karin; Hansen, Nancy F; Cherukuri, Praveen F; Cruz, Pedro; Teer, Jamie K; Mullikin, James C; Boerkoel, Cornelius F; Gahl, William A; Tifft, Cynthia J

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration

外显子组测序和SNP分析检测到脂肪酸羟化酶相关神经退行性疾病中的新型复合杂合性

Pierson, Tyler Mark; Simeonov, Dimitre R; Sincan, Murat; Adams, David A; Markello, Thomas; Golas, Gretchen; Fuentes-Fajardo, Karin; Hansen, Nancy F; Cherukuri, Praveen F; Cruz, Pedro; Mullikin, James C; Blackstone, Craig; Tifft, Cynthia; Boerkoel, Cornelius F; Gahl, William A

Detecting false-positive signals in exome sequencing

检测外显子组测序中的假阳性信号

Fuentes Fajardo, Karin V; Adams, David; Mason, Christopher E; Sincan, Murat; Tifft, Cynthia; Toro, Camilo; Boerkoel, Cornelius F; Gahl, William; Markello, Thomas

Analysis of DNA sequence variants detected by high-throughput sequencing

对高通量测序检测到的DNA序列变异进行分析

Adams, David R; Sincan, Murat; Fuentes Fajardo, Karin; Mullikin, James C; Pierson, Tyler M; Toro, Camilo; Boerkoel, Cornelius F; Tifft, Cynthia J; Gahl, William A; Markello, Tom C

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

全外显子组测序在与线粒体m-AAA蛋白酶相关的痉挛性共济失调-神经病综合征中鉴定出纯合AFG3L2突变

Pierson, Tyler Mark; Adams, David; Bonn, Florian; Martinelli, Paola; Cherukuri, Praveen F; Teer, Jamie K; Hansen, Nancy F; Cruz, Pedro; Mullikin For The Nisc Comparative Sequencing Program, James C; Blakesley, Robert W; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fuentes Fajardo, Karin; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I; Langer, Thomas; Gahl, William A; Toro, Camilo