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Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Silva DB, et al. Among authors: estrada k. Am J Hum Genet. 2024 May 21:S0002-9297(24)00162-9. doi: 10.1016/j.ajhg.2024.04.021. Online ahead of print. Am J Hum Genet. 2024. PMID: 38781976
Effectiveness of In-Theater Mental Health Assessments.
Perez S, Dimayuga HU, Estrada KM, Flores A, Hall AB. Perez S, et al. Among authors: estrada km. Mil Med. 2024 May 17:usae213. doi: 10.1093/milmed/usae213. Online ahead of print. Mil Med. 2024. PMID: 38758075
Multiomics analysis reveals B. MO1 as a distinct Babesia species and provides insights into its evolution and virulence.
Singh P, Vydyam P, Fang T, Estrada K, Gonzalez LM, Grande R, Kumar M, Chakravarty S, Berry V, Ranwez V, Carcy B, Depoix D, Sánchez S, Cornillot E, Abel S, Ciampossin L, Lenz T, Harb O, Sanchez-Flores A, Montero E, Le Roch KG, Lonardi S, Ben Mamoun C. Singh P, et al. Among authors: estrada k. bioRxiv [Preprint]. 2024 Jan 18:2024.01.17.575932. doi: 10.1101/2024.01.17.575932. bioRxiv. 2024. PMID: 38293033 Free PMC article. Preprint.
NTHL1 is a recessive cancer susceptibility gene.
Nurmi AK, Pelttari LM, Kiiski JI, Khan S, Nurmikolu M, Suvanto M, Aho N, Tasmuth T, Kalso E, Schleutker J, Kallioniemi A, Heikkilä P; FinnGen; Aittomäki K, Blomqvist C, Nevanlinna H. Nurmi AK, et al. Sci Rep. 2023 Nov 30;13(1):21127. doi: 10.1038/s41598-023-47441-w. Sci Rep. 2023. PMID: 38036545 Free PMC article.
Genetic Inhibition of APOL1 Pore-Forming Function Prevents APOL1-Mediated Kidney Disease.
Hung AM, Assimon VA, Chen HC, Yu Z, Vlasschaert C, Triozzi JL, Chan H, Wheless L, Wilson O, Shah SC, Mack T, Thompson T, Matheny ME, Chandrasekar S, Mozaffari SV, Chung CP, Tsao P, Susztak K, Siew ED, Estrada K, Gaziano JM, Graham RR, Tao R, Hoek M, Robinson-Cohen C, Green EM, Bick AG; Million Veteran Program. Hung AM, et al. Among authors: estrada k. J Am Soc Nephrol. 2023 Nov 1;34(11):1889-1899. doi: 10.1681/ASN.0000000000000219. Epub 2023 Oct 6. J Am Soc Nephrol. 2023. PMID: 37798822
clifford B.4.1 , an allele of CG1603 , causes tissue overgrowth in the Drosophila melanogaster eye.
Nowaskie RR, Kitch A, Adams A, Anandaraj A, Apawan E, Bañuelos L, Betz CJ, Bogunia JM, Buechlein N, Burns MR, Collier HA, Collins Z, Combs K, Dakarian VD, Daniel A, De Jesus Iii CM, Erickson JD, Estrada B, Estrada K, Fields S, Gabriel M, Garcia RM, Gitamo S, Granath E, Hardin SN, Hattling E, Henriquez AV, Hernandez D, Johnson L, Kim AH, Kolley LK, Larue KM, Lockwood E, Longoria N, Lopez C, Lopez-Roca Fernandez RC, Lozano S, Manthie C, May T, Mehrzad Z, Mendoza I, Mohan S, Mounthachak C, Muyizere M, Myers MR, Newton J, Nwawueze A, Paredes AJ, Pezdek MN, Phat Nguyen H, Pobuda N, Sadat S, Sailor JJ, Santiago D, Sbarbaro M, Schultz Iii DE, Senobari AN, Shouse EM, Snarski SM, Solano E, Solis Campos N, Stewart E, Szczepaniak J, Tejeda M, Teoli DF, Tran M, Trivedi N, Uribe Aristizabal L, Vargas BZ, Walker Iii KW, Wasiqi J, Wong J, Zachrel A, Shah HP, Small E, Watts CT, Croonquist P, Devergne O, Jones AK, Taylor EE, Kagey JD, Merkle JA. Nowaskie RR, et al. Among authors: estrada k. MicroPubl Biol. 2023 Aug 22;2023:10.17912/micropub.biology.000936. doi: 10.17912/micropub.biology.000936. eCollection 2023. MicroPubl Biol. 2023. PMID: 37680216 Free PMC article.
181 results