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Nature Genetics|June 29, 2021
Advancing human genetics research and drug discovery through exome sequencing of the UK BiobankJoseph D Szustakowski, Suganthi Balasubramanian, Erika Kvikstad, et al.Nature Metabolism|September 26, 2024
Identification and characterization of human GDF15 knockoutsAllan M Gurtan, Shareef Khalid, Christopher Koch, et al.Nature Communications|September 13, 2024
NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with strokeJuan Lorenzo Rodriguez-Flores, Shareef Khalid, Neelroop Parikshak, et al.The Journal of Allergy and Clinical Immunology|October 16, 2025
Caspase 1-deficient humans survive into late adulthood despite dramatically lower canonical inflammasome activityJohn Dominy, Christopher Koch, Christelle Arnold, et al.Nature|October 22, 2020
Exome sequencing and characterization of 49,960 individuals in the UK BiobankCristopher V Van Hout, Ioanna Tachmazidou, Joshua D Backman, et al.Nature|June 17, 2026
Analysis of 173,303 exomes and genomes in the Pakistan Genome ResourceChristopher Koch, Shareef Khalid, Maleeha Zaman Khan, et al.American Journal of Human Genetics|June 11, 2021
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individualsJack A Kosmicki, Julie E Horowitz, Nilanjana Banerjee, et al.Pageof 2