关注
Theodore G. Drivas
Theodore G. Drivas
Children's Hospital of Philadelphia
在 pennmedicine.upenn.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
A network of nuclear envelope membrane proteins linking centromeres to microtubules
MC King, TG Drivas, G Blobel
Cell 134 (3), 427-438, 2008
2072008
Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis
TG Drivas, AP Wojno, BA Tucker, EM Stone, J Bennett
Science translational medicine 7 (291), 291ra97-291ra97, 2015
1532015
Existence of a novel clathrin-independent endocytic pathway in yeast that depends on Rho1 and formin
DC Prosser, TG Drivas, L Maldonado-Báez, B Wendland
Journal of Cell Biology 195 (4), 657-671, 2011
1032011
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19
JE Huffman, G Butler-Laporte, A Khan, E Pairo-Castineira, TG Drivas, ...
Nature genetics 54 (2), 125-127, 2022
862022
Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration
TG Drivas, ELF Holzbaur, J Bennett
The Journal of clinical investigation 123 (10), 4525-4539, 2013
862013
Interaction between Epsin/Yap180 adaptors and the scaffolds Ede1/Pan1 is required for endocytosis
L Maldonado-Báez, MR Dores, EM Perkins, TG Drivas, L Hicke, ...
Molecular Biology of the Cell 19 (7), 2936-2948, 2008
782008
The Penn Medicine BioBank: towards a genomics-enabled learning healthcare system to accelerate precision medicine in a diverse population
A Verma, SM Damrauer, N Naseer, JE Weaver, CM Kripke, L Guare, ...
Journal of Personalized Medicine 12 (12), 1974, 2022
612022
Genotype-phenotype correlations in 208 individuals with Coffin-Siris syndrome
A Vasko, TG Drivas, SA Schrier Vergano
Genes 12 (6), 937, 2021
572021
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene–phenotype associations
J Park, AM Lucas, X Zhang, K Chaudhary, JH Cho, G Nadkarni, A Dobbyn, ...
Nature medicine 27 (1), 66-72, 2021
462021
Compositions and methods for treatment of disorders related to CEP290
TG Drivas, J Bennett
US Patent 10,155,794, 2018
422018
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
G Butler-Laporte, G Povysil, JA Kosmicki, ET Cirulli, T Drivas, S Furini, ...
PLoS genetics 18 (11), e1010367, 2022
392022
CEP290 and the primary cilium
TG Drivas, J Bennett
Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, 519-525, 2014
392014
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
TG Drivas, D Li, D Nair, JT Alaimo, M Alders, J Altmüller, TS Barakat, ...
European Journal of Human Genetics 28 (10), 1422-1431, 2020
352020
An autogenously regulated expression system for gene therapeutic ocular applications
MA Sochor, V Vasireddy, TG Drivas, A Wojno, T Doung, I Shpylchak, ...
Scientific reports 5 (1), 17105, 2015
172015
eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals
TG Drivas, A Lucas, MD Ritchie
BioData Mining 14, 1-17, 2021
162021
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature
TG Drivas, JA Taylor, EH Zackai
American Journal of Medical Genetics Part A 179 (6), 1063-1068, 2019
162019
Alternative splicing of OAS1 alters the risk for severe COVID-19
J Huffman, G Butler-Laporte, A Khan, TG Drivas, GM Peloso, T Nakanishi, ...
medRxiv, 2021
132021
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders
X Zhang, AM Lucas, Y Veturi, TG Drivas, WP Bone, A Verma, WK Chung, ...
Nature communications 13 (1), 3428, 2022
112022
The bionic retina: a small molecule with big potential for visual restoration
TG Drivas, J Bennett
Neuron 75 (2), 185-187, 2012
102012
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
SE Sheppard, L Bryant, RN Wickramasekara, C Vaccaro, B Robertson, ...
Science advances 9 (10), eade1463, 2023
92023
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