Lemire G, Marshall AE, Patel TS, Trejo Martinez J, Lerman-Sagie T, Mears W, Wang X, Lev D, Eaton AJ, Bontempo K, Angle B, Shannon P, Blaser S, Care4Rare Canada Consortium, Boycott KM, Richer J, Chong K, Drivas TG*, and Chitayat D*, *Co-Senior Authors Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies , Am J Hum Genet, 113(8): 2026,1754-1761
Gold JI, Elkaim Y, Gold NB, Asher S, Raper A, Condit C, Bogus Z, Elysee I, Hennessy L, Kennedy E, Briere LC, Sweetser DA, Kripke C, Verma A, Salmasian H, Landry L, Nathanson KL, Kallish S, and Drivas TG. Racial and Socioeconomic Disparities in Genetic Evaluation and Testing in the Adult Patient Population , Am J Hum Genet, 113(1): 2026,29-40
Gold J, Kripke CM, Regeneron Genetics Center, Penn Medicine BioBank, Drivas TG. Exclusion-Based Exome Sequencing in Critically Ill Adults Ages 18-40 Years Has a 24% Diagnostic Rate and Reveals Race-Based Disparities in Access to Genetic Testing , Am J Hum Genet., 112(8): 2025,1792-1804
Safonov A, Nomakuchi TT, Chaeo E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, K, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB, ElNaggar A, Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD, Penn Medicine Biobank, Nathanson KL, and Drivas TG A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations , Nature Commun., 16(1)(3121): 2025
Liu H, Abedini A, Ha E, Ma Z, Sheng X, Dumoulin B, Qiu C, Aranyi T, Li S, Dittrich N, Chen HC, Tao R, Tarng DC, Hsieh FJ, Chen SA, Yang SF, Lee MY, Kwok PY, Wu JY, Chen CH, Khan A, Limdi NA, Wei WQ, Walunas TL, Karlson EW, Kenny EE, Luo Y, Kottyan L, Connolly JJ, Jarvik GP, Weng C, Shang N, Cole JB, Mercader JM, Mandla R, Majarian TD, Florez JC, Haas ME, Lotta LA, Drivas TG, Vy HMT, Nadkarni GN, Wiley LK, Wilson MP, Gignoux CR, Rasheed H, Thomas LF, Åsvold BO, Brumpton BM, Hallan SI, Hveem K, Zheng J, Hellwege JN, Zawistowski M, Zöllner S, Franceschini N, Hu H, Zhou J, Kiryluk K, Ritchie MD, Palmer M, Edwards TL, Voight BF, Hung AM, Susztak K Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants , Science, 387(6734): 2025
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., 12(12): 2022,1974
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., 18(11): 2022
Drivas TG, Lucas A, Zhang X, Ritchie MD. Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis , Am J Hum Genet, 108(3): 2021,482-501
Drivas TG, Lucas A, Ritchie MD. eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals , BioData Min, 14(1): 2021,32
Drivas TG, Holzbaur EL, Bennett J. Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration , J Clin Invest, 123(10): 2013,4525-39
