My 2021 Highlights

2021 is officially a wrap!

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Mehinovic E, Gray T, Campbell M, Ekholm J, Wenger AM, Rowell WJ, Grudo A, Grimwood J, Korlach J, Gurnett C, Constantino JN, Turner TN. 2021. Germline mosaicism of a missense variant in KCNC2 in a m... Laine P, Rowell WJ, Paulin L, Kujawa S, Raterman D, et al. (2021) Alu element in the RNA binding motif protein, X-linked 2 (RBMX2) gene found to be linked to bipolar disorder. PLOS ONE 16(12): e026... van der Lee M, Rowell WJ, Menafra R, Guchelaar H-J, Swen JJ, Anvar SY. 2021. Application of long-read sequencing to elucidate complex pharmacogenomic regions: a proof of principle. Pharmacogenomics... Cohen ASA, Farrow EG, et. al. 2021. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. (preprint). medRxiv. https://www.medrxiv.org/content/10.1101/2021.10.07.2... Baid G, Cook DE, Shafin K, Yun T, Llinares-López F, Berthet Q, Wenger AM, Rowell WJ, Nattestad M, Yang H, Kolesnikov A, Töpfer A, Ammar W, Vert J-P, Vaswani A, McLean CY, Chang P-C, Carroll A. 2021... Namiki S, Ros IG, Morrow C, Rowell WJ, Card GM, Korff W, Dickinson MH. 2021. A population of descending neurons that regulate the flight motor of Drosophila. (preprint). bioRxiv. https://www.biorxi... Wagner J, Olson ND, Harris L, McDaniel J, Cheng H, Fungtammasan A, Hwang Y-C, Gupta R, Wenger AM, Rowell WJ, Khan ZM, Farek J, Zhu Y, Pisupati A, Mahmoud M, Xiao C, Yoo B, Sahraeian SME, Miller DE,... Comprehensive detection of variants in unsolved rare disease cases with PacBio HiFi reads · August 29, 2021 · European Human Genetics Conference 2021