A network of nuclear envelope membrane proteins linking centromeres to microtubules MC King, TG Drivas, G Blobel Cell 134 (3), 427-438, 2008 | 207 | 2008 |
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 | 153 | 2015 |
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 | 103 | 2011 |
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 | 86 | 2022 |
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 | 86 | 2013 |
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 | 78 | 2008 |
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 | 61 | 2022 |
Genotype-phenotype correlations in 208 individuals with Coffin-Siris syndrome A Vasko, TG Drivas, SA Schrier Vergano Genes 12 (6), 937, 2021 | 57 | 2021 |
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 | 46 | 2021 |
Compositions and methods for treatment of disorders related to CEP290 TG Drivas, J Bennett US Patent 10,155,794, 2018 | 42 | 2018 |
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 | 39 | 2022 |
CEP290 and the primary cilium TG Drivas, J Bennett Retinal Degenerative Diseases: Mechanisms and Experimental Therapy, 519-525, 2014 | 39 | 2014 |
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 | 35 | 2020 |
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 | 17 | 2015 |
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 | 16 | 2021 |
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 | 16 | 2019 |
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 | 13 | 2021 |
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 | 11 | 2022 |
The bionic retina: a small molecule with big potential for visual restoration TG Drivas, J Bennett Neuron 75 (2), 185-187, 2012 | 10 | 2012 |
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 | 9 | 2023 |