Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

181 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Lek M, et al. Among authors: estrada k. Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057. Nature. 2016. PMID: 27535533 Free PMC article.
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.
Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry).
Viippola E, Kuitunen S, Rodosthenous RS, Vabalas A, Hartonen T, Vartiainen P, Demmler J, Vuorinen AL, Liu A, Havulinna AS, Llorens V, Detrois KE, Wang F, Ferro M, Karvanen A, German J, Jukarainen S, Gracia-Tabuenca J, Hiekkalinna T, Koskelainen S, Kiiskinen T, Lahtela E, Lemmelä S, Paajanen T, Siirtola H, Reeve MP, Kristiansson K, Brunfeldt M, Aavikko M, Gen F, Perola M, Ganna A; FinnGen. Viippola E, et al. Int J Epidemiol. 2023 Aug 2;52(4):e195-e200. doi: 10.1093/ije/dyad091. Int J Epidemiol. 2023. PMID: 37365732 Free PMC article. No abstract available.
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.
181 results