文献库，生知库 | 链接生命科学的每一步

A junction coverage compatibility score to quantify the reliability of transcript abundance estimates and annotation catalogs

连接覆盖率兼容性评分用于量化转录本丰度估计和注释目录的可靠性

期刊:Life Science Alliance

影响因子:2.9

doi:10.26508/lsa.201800175

Soneson, Charlotte; Love, Michael I; Patro, Rob; Hussain, Shobbir; Malhotra, Dheeraj; Robinson, Mark D

发表日期：2019

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A new conceptual framework for investigating complex genetic disease

一种用于研究复杂遗传疾病的新概念框架

期刊:Frontiers in Genetics

影响因子:2.8

doi:10.3389/fgene.2015.00327

Hussain, Shobbir

发表日期：2015

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Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.

tRNA的异常甲基化将细胞应激与神经发育障碍联系起来

期刊:EMBO Journal

影响因子:8.3

doi:10.15252/embj.201489282

Blanco Sandra, Dietmann Sabine, Flores Joana V, Hussain Shobbir, Kutter Claudia, Humphreys Peter, Lukk Margus, Lombard Patrick, Treps Lucas, Popis Martyna, Kellner Stefanie, HÃ¶lter Sabine M, Garrett Lillian, Wurst Wolfgang, Becker Lore, Klopstock Thomas, Fuchs Helmut, Gailus-Durner Valerie, HrabÄ de Angelis Martin, KÃ¡radÃ³ttir Ragnhildur T, Helm Mark, Ule Jernej, Gleeson Joseph G, Odom Duncan T, Frye Michaela

Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders

开发基于PPI抑制剂的STXBP1单倍体功能不全相关癫痫疾病疗法

期刊:Frontiers in Molecular Neuroscience

影响因子:3.8

doi:10.3389/fnmol.2014.00006

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

编码RNA甲基转移酶的NSUN2基因突变会导致常染色体隐性遗传性智力障碍。

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2012.03.023

Khan, Muzammil Ahmad; Rafiq, Muhammad Arshad; Noor, Abdul; Hussain, Shobbir; Flores, Joana V; Rupp, Verena; Vincent, Akshita K; Malli, Roland; Ali, Ghazanfar; Khan, Falak Sher; Ishak, Gisele E; Doherty, Dan; Weksberg, Rosanna; Ayub, Muhammad; Windpassinger, Christian; Ibrahim, Shahnaz; Frye, Michaela; Ansar, Muhammad; Vincent, John B

发表日期：2012

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On the modelling of variance components in classical twin studies

关于经典双胞胎研究中方差分量的建模

A modeling of complex trait phenotypic variance determinants

复杂性状表型变异决定因素的建模

A junction coverage compatibility score to quantify the reliability of transcript abundance estimates and annotation catalogs

连接覆盖率兼容性评分用于量化转录本丰度估计和注释目录的可靠性

A new conceptual framework for investigating complex genetic disease

一种用于研究复杂遗传疾病的新概念框架

Aberrant methylation of tRNAs links cellular stress to neuro-developmental disorders.

tRNA的异常甲基化将细胞应激与神经发育障碍联系起来

Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders

开发基于PPI抑制剂的STXBP1单倍体功能不全相关癫痫疾病疗法

Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability

编码RNA甲基转移酶的NSUN2基因突变会导致常染色体隐性遗传性智力障碍。