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Author Details

Theodore G Drivas
Department of Genetics University of Pennsylvania Philadelphia PA.
2008
31
12
PMIDPaper TitleJournal TitlePublished Year
36897941Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.Sci Adv2023
37593415Phenotypes of undiagnosed adults with actionable <i>OTC</i> and <i>GLA</i> variants.HGG Adv2023
37142214Comparison of Transthoracic Contrast Echocardiography with High-Resolution Chest CT after Embolization of Pulmonary Arteriovenous Malformation.J Vasc Interv Radiol2023
37474378Opportunities and challenges for biomarker discovery using electronic health record data.Trends Mol Med2023
37296540Unmasking the challenges of Kabuki syndrome in adulthood: A case series.Am J Med Genet C Semin Med Genet2023
36846987Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.J Am Heart Assoc2023
35027740Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19.Nat Genet2022
35440546The statistical geometry of material loops in turbulence.Nat Commun2022
35701404Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.Nat Commun2022
35465719Bounds on heat flux for Rayleigh-Bénard convection between Navier-slip fixed-temperature boundaries.Philos Trans A Math Phys Eng Sci2022
36556195The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.J Pers Med2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35119291End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic <i>C1QBP</i> Variants.Circ Genom Precis Med2022
33432171Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.Nat Med2021
33791713Alternative splicing of OAS1 alters the risk for severe COVID-19.medRxiv2021
33636100Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.Am J Hum Genet2021
34273980eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals.BioData Min2021
34205270Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.Genes (Basel)2021
32483341A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Eur J Hum Genet2020
30924273The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.Am J Med Genet A2019
30470797Author Correction: An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications.Sci Rep2018
26062849Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.Sci Transl Med2015
26597678An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications.Sci Rep2015
26207472Inertial-Range Reconnection in Magnetohydrodynamic Turbulence and in the Solar Wind.Phys Rev Lett2015
24664739CEP290 and the primary cilium.Adv Exp Med Biol2014
24827179Asymptotic results for backwards two-particle dispersion in a turbulent flow.Phys Rev E Stat Nonlin Soft Matter Phys2014
24051377Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.J Clin Invest2013
22841303The bionic retina: a small molecule with big potential for visual restoration.Neuron2012
22065638Existence of a novel clathrin-independent endocytic pathway in yeast that depends on Rho1 and formin.J Cell Biol2011
18448668Interaction between Epsin/Yap180 adaptors and the scaffolds Ede1/Pan1 is required for endocytosis.Mol Biol Cell2008
18692466A network of nuclear envelope membrane proteins linking centromeres to microtubules.Cell2008
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Collaborators

Marylyn D Ritchie
Center for Systems Genomics, Pennsylvania State University, University Park
Co-authored papers 7
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Corporal Michael J Crescenz VA Medical Center Philadelphia
Co-authored papers 6
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Lady Davis Institute for Medical Research, Jewish General Hospital
Co-authored papers 3
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Co-authored papers 3
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Columbia University
Co-authored papers 3
Daniel J Rader
Co-authored papers 3
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Perelman School of Medicine, University of Pennsylvania
Co-authored papers 2
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Gina M Peloso
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Renae Judy
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Institute for Molecular Medicine Finland (FIMM), University of Helsinki
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Jennifer E Huffman
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Szymon Pula
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Nicole Simons
Icahn School of Medicine at Mount Sinai
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Efren Sandoval
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Carlo Rivolta
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Monnat Pongpanich
Chulalongkorn University
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Digna R Velez Edwards
Vanderbilt University Medical Center
Co-authored papers 1
Kevin B Johnson
University of Pennsylvania
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Joseph D Buxbaum
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Francisco Tanudjaja
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Mateusz Sypniewski
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