2023

Singhal P, Tan ALM, Drivas TG, Johnson KB, Ritchie MD, Beaulieu-Jones BK. "Opportunities and challenges for biomarker discovery using electronic health record data." Trends Mol Med . 2023 Sep; 29(9):765-776 : PMID: 37474378

Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O’Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Synder KM, and Sheppard SE. "Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA." Am J Med Genet A. 2023 Sep : PMID: 37705207

Gold JI, Madhavan S, Park P, Zouk H, Perez E, Strong A, Drivas TG, Karaa A, Yudkoff M, Rader D, Regeneron Genetics Center, Penn Medicine BioBank; Green RC, Gold NB. "Phenotypes of undiagnosed adults with actionable OTC and GLA variants." HGG Adv. 2023 Jul 29; 4(4):100226 : PMID: 37593415

Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, and Drivas TG. "Unmasking the challenges of Kabuki syndrome in adulthood: A case series." Am J Med Genet C Semin Med Genet. 2023 Jun 9 ;193(2):128-138: PMID: 37296540

Curnes NR, Hung ML, DPietro DM, Ferrari VA, Drivas TG, Chittams J, Quinn R, and Trerotola SO. "Comparison of transthoracic contrast echocardiography with high-resolution chest CT after embolization of pulmonary arteriovenous malformation." J Vasc Interv Radiol. 2023 Aug 34(8):1435-1440: PMID: 37142214

Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, et al. (with 115 additional authors). "Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice." Science Advances. 2023 Mar 10;9(10):eade1463. doi: PMID: 36897941

Xiao B, Velez Edwards DR, Lucas A, Drivas TG, Gray K, Keating B, Weng C, Jarvik GP, Hakonarson H, Kottyan L, Elhadad N, Wei WQ, Luo Y, Kim D, Ritchie MD, Setia Verma S, anmd the Regeneron Genetics Center."Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions." Journal of the American Heart Association. 2023 Mar 7;12(5):e026561. PMID: 36846987

2022

Verma, A, Damrauer SM, Naseer N, Weaver J, Kripke CM, Guare L, Sirugo G, Kember RL, Drivas TG, Dudek SM, Bradford Y, Lucas A, Judy R, Verma SS, Meagher E, Nathanson KL, Feldman M, Ritchie MD, Rader DJ, and The Penn Medicine BioBank. "The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population." Journal of Personalized Medicine. 2022 Nov 30;12(12):1974. PMID: 36556195

Butler-Laporte G, Povysil G, Kosmicki JA, Cirulli ET, Drivas TG, et al. (with 160 additional authors) "Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative." PLoS Genet. 2022 Nov 3;18(11):e1010367. PMID: 36327219

Zhang X, Lucas AM, Veturi Y, Drivas TG, Bone WP, Verma A, Chung WK, Crosslin D, Denny JC, Hebbring S, Jarvik GP, Kullo I, Larson EB, Rasmussen-Torvik LJ, Schaid DJ, Smoller JW, Stanaway IB, Wei WQ, Weng C, and Ritchie MD. (2022) “Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.” Nat Commun. 13(1):3428. PMID: 35701404

Wilcox NS, Prenner SB, Cevasco M, Condit C, Goldstein M, Peterson JT, Resta IT, Palmer M, Lal P, Owens AT, Pieretti J, Drivas TG^#, and Reza N^#. (2022) “End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants.” Circ Genom Precis Med. 15(2): e003559. PMID: 35119291

Huffman JE, Butler-Laporte G, Khan A, Pairo-Castineira A, Drivas TG, Peloso GM, Nakanishi T, COVID-19 Host Genetics Initiativ, Ganna A, Verma A, Baillie JK, Kiryluk K, Richards JB, and Zeberg H. (2022) “Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19.” Nature Genetics. 54(2):125-127.PMID: 35027740

2021

Drivas TG, Lucas A, and Ritchie MD (2021) “eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals.” BioData Min. 14(1):32. PMID: 34273980

Vasko A, Drivas TG, and Schrier-Vergano SA. (2021) “Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.” Genes _12_(6), 937.PMID: 34205270

Drivas TG, Lucas A, Zhang X, and Ritchie MD (2021) “Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.” Am J Hum Genet. 108(3):482-501. PMID: 33636100

Park J, Lucas AM, Zhang X, Chaudhary K, Cho JH, Nadkarni G, Dobbyn A, Chittoor G, Josyula NS, Katz N, Breeyear JH, Ahmadmehrabi S, Drivas TG, Chavali VRM, Fasolino M, Sawada H, Daugherty A, Li Y, Zhang C, Bradford Y, Weaver J, Verma A, Judy RL, Kember RL, Overton JD, Reid JG, Ferreira MAR, Li AH, Baras A, LeMaire SA, Shen YH, Naji A, Kaestner KH, Vahedi G, Edwards TL, Chen J, Damrauer SM, Justice AE, Do R, Ritchie MD, and Rader DJ. (2021) “Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.” Nat Med. (1):66-72PMID: 33432171

Preprints & Papers
in Preparation

       Preprints

Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinksy JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC,Bonanni M, Raper A, Kallish S, Ritchie MD, Regeneron Genetics Center, Penn Medicine BioBank, Nathanson KL^#, and Drivas TG^# (2023) “Unexpected somatic mosaicism and reduced penetrance: A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.” medRxiv. 2023 Aug

      Submitted Manuscripts and Manuscripts in Preparation

Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, O’Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Synder K, Hakonarson H, and Sheppard SE (2022) “Vascular Malformations Are Not Part of the Clinical Spectrum of Turner Syndrome.” In preparation

Previous Works

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS,Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Blok LS, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, and Bhoj E. (2020) “A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.” Eur J Hum Genet. (10):1422-1431. PMID: 32483341

Drivas TG, Taylor JA, and Zackai EH. (2019) “The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.” Am J Med Genet Part A 179A:1063-68. PMID: 30924273

Sochor MA^#, Vasireddy V^#, Drivas TG^#, Wojno A, Doung T, Shpylchak I, Bennicelli J, Chung D, Bennett J, and Lewis M (2015). “An autogenously regulated expression system for gene therapeutic ocular applications.” Sci Rep 5:17105. PMID: 26597678

Drivas TG^#, Wojno AP^#, Tucker B, Stone EM, and Bennet J. (2015). “Basal exon skipping and genetic pleiotropy: a predictive model of disease pathogenesis.” Sci Transl Med 7(291):291-97.PMID: 26062849

Drivas TG, Holzbaur EL and Bennett J. (2013). “Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.” J Clin Invest 123(10):4525-39. PMID: 24051377

Prosser DC, Drivas TG, Maldonado-Báez L, and Wendland B. (2011). “Rho1 and the formin Bni1 mediate an Arp2/3- and clathrin-independent endocytic pathway.” J Cell Biol 195:657-71.PMID: 22065638

Maldonado-Báez L, Dores MR, Perkins EM, Drivas TG, Hicke L, and Wendland B. (2008). “Interaction between Epsin/Yap180 Adaptors and the Scaffolds Ede1/Pan1 Is Required for Endocytosis.” Mol Biol Cell 19:2936-2948. PMID: 18448668

King MC, Drivas TG, and Blobel G. (2008). “A network of nuclear envelope membrane proteins linking centromeres to microtubules.” Cell 134:427-438.PMID: 18692466

       Review Articles and Book Chapters

Drivas TG and Bennett J. (2014). “CEP290 and the Primary Cilium.” Adv Exp Med Biol 801: 519-25. PMID: 24664739

Drivas TG and Bennett J. (2012) “The bionic retina: a small molecule with big potential for visual restoration.” Neuron 75(2):185-7. PMID: 22841303