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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 Free article.
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.
181 results