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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: prescott t. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
A monoallelic UXS1 variant associated with short-limbed short stature.
Rustad CF, Backe PH, Jin C, Merckoll E, Tveten K, Maciej-Hulme ML, Karlsson N, Prescott T, Sand ES, Woldseth B, Elgstøen KBP, Holla ØL. Rustad CF, et al. Among authors: prescott t. Mol Genet Genomic Med. 2024 Jun;12(6):e2472. doi: 10.1002/mgg3.2472. Mol Genet Genomic Med. 2024. PMID: 38860481 Free PMC article.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hall HN, Parry D, Halachev M, Williamson KA, Donnelly K, Campos Parada J, Bhatia S, Joseph J, Holden S, Prescott TE, Bitoun P, Kirk EP, Newbury-Ecob R, Lachlan K, Bernar J, van Heyningen V, FitzPatrick DR, Meynert A. Hall HN, et al. J Med Genet. 2024 Feb 21;61(3):250-261. doi: 10.1136/jmg-2023-109181. J Med Genet. 2024. PMID: 38050128 Free PMC article.
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
de Prisco N, Ford C, Elrod ND, Lee W, Tang LC, Huang KL, Lin A, Ji P, Jonnakuti VS, Boyle L, Cabaj M, Botta S, Õunap K, Reinson K, Wojcik MH, Rosenfeld JA, Bi W, Tveten K, Prescott T, Gerstner T, Schroeder A, Fong CT, George-Abraham JK, Buchanan CA, Hanson-Khan A, Bernstein JA, Nella AA, Chung WK, Brandt V, Jovanovic M, Targoff KL, Yalamanchili HK, Wagner EJ, Gennarino VA. de Prisco N, et al. Among authors: prescott t. Sci Adv. 2023 Feb 17;9(7):eade4814. doi: 10.1126/sciadv.ade4814. Epub 2023 Feb 17. Sci Adv. 2023. PMID: 36800428 Free PMC article.
The genome sequence of the Scalloped Hook-tip moth, Falcaria lacertinaria (Linnaeus, 1758).
Griffiths A, Prescott T; Darwin Tree of Life Barcoding collective; Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team; Wellcome Sanger Institute Scientific Operations: Sequencing Operations; Wellcome Sanger Institute Tree of Life Core Informatics team; Tree of Life Core Informatics collective; Darwin Tree of Life Consortium. Griffiths A, et al. Among authors: prescott t. Wellcome Open Res. 2024 Nov 7;9:659. doi: 10.12688/wellcomeopenres.23258.1. eCollection 2024. Wellcome Open Res. 2024. PMID: 39649622 Free PMC article.
The genome sequence of the Satin Lutestring moth, Tetheella fluctuosa (Hübner, 1803).
Prescott T; Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team; Wellcome Sanger Institute Scientific Operations: Sequencing Operations; Wellcome Sanger Institute Tree of Life Core Informatics team; Tree of Life Core Informatics collective; Darwin Tree of Life Consortium. Prescott T, et al. Wellcome Open Res. 2024 Oct 11;9:576. doi: 10.12688/wellcomeopenres.23076.1. eCollection 2024. Wellcome Open Res. 2024. PMID: 39534536 Free PMC article.
Understanding the sense of self through robotics.
Prescott TJ, Vogeley K, Wykowska A. Prescott TJ, et al. Sci Robot. 2024 Oct 30;9(95):eadn2733. doi: 10.1126/scirobotics.adn2733. Epub 2024 Oct 30. Sci Robot. 2024. PMID: 39475697 Free article. Review.
217 results