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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

75 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
EMBL's European Bioinformatics Institute (EMBL-EBI) in 2022.
Thakur M, Bateman A, Brooksbank C, Freeberg M, Harrison M, Hartley M, Keane T, Kleywegt G, Leach A, Levchenko M, Morgan S, McDonagh EM, Orchard S, Papatheodorou I, Velankar S, Vizcaino JA, Witham R, Zdrazil B, McEntyre J. Thakur M, et al. Among authors: mcdonagh em. Nucleic Acids Res. 2023 Jan 6;51(D1):D9-D17. doi: 10.1093/nar/gkac1098. Nucleic Acids Res. 2023. PMID: 36477213 Free PMC article.
PharmGKB summary: Efavirenz pathway, pharmacokinetics.
McDonagh EM, Lau JL, Alvarellos ML, Altman RB, Klein TE. McDonagh EM, et al. Pharmacogenet Genomics. 2015 Jul;25(7):363-76. doi: 10.1097/FPC.0000000000000145. Pharmacogenet Genomics. 2015. PMID: 25966836 Free PMC article. Review. No abstract available.
PharmGKB summary: ivacaftor pathway, pharmacokinetics/pharmacodynamics.
Fohner AE, McDonagh EM, Clancy JP, Whirl Carrillo M, Altman RB, Klein TE. Fohner AE, et al. Among authors: mcdonagh em. Pharmacogenet Genomics. 2017 Jan;27(1):39-42. doi: 10.1097/FPC.0000000000000246. Pharmacogenet Genomics. 2017. PMID: 27636560 Free PMC article. No abstract available.
PharmGKB summary: caffeine pathway.
Thorn CF, Aklillu E, McDonagh EM, Klein TE, Altman RB. Thorn CF, et al. Among authors: mcdonagh em. Pharmacogenet Genomics. 2012 May;22(5):389-95. doi: 10.1097/FPC.0b013e3283505d5e. Pharmacogenet Genomics. 2012. PMID: 22293536 Free PMC article. No abstract available.
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB, Halai D, Baple E, Craig C, Hamblin A, Henderson S, Patch C, O'Neill A, Devereau A, Smith K, Martin AR, Sosinsky A, McDonagh EM, Sultana R, Mueller M, Smedley D, Toms A, Dinh L, Fowler T, Bale M, Hubbard T, Rendon A, Hill S, Caulfield MJ; 100 000 Genomes Project. Turnbull C, et al. Among authors: mcdonagh em. BMJ. 2018 Apr 24;361:k1687. doi: 10.1136/bmj.k1687. BMJ. 2018. PMID: 29691228 No abstract available.
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei W, Pagnamenta AT, Gleadall N, Sanchis-Juan A, Stephens J, Broxholme J, Tuna S, Odhams CA; Genomics England Research Consortium; NIHR BioResource; Fratter C, Turro E, Caulfield MJ, Taylor JC, Rahman S, Chinnery PF. Wei W, et al. Nat Commun. 2020 Apr 8;11(1):1740. doi: 10.1038/s41467-020-15336-3. Nat Commun. 2020. PMID: 32269217 Free PMC article.
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT, Kaiyrzhanov R, Zou Y, Da'as SI, Maroofian R, Donkervoort S, Dominik N, Lauffer M, Ferla MP, Orioli A, Giess A, Tucci A, Beetz C, Sedghi M, Ansari B, Barresi R, Basiri K, Cortese A, Elgar G, Fernandez-Garcia MA, Yip J, Foley AR, Gutowski N, Jungbluth H, Lassche S, Lavin T, Marcelis C, Marks P, Marini-Bettolo C, Medne L, Moslemi AR, Sarkozy A, Reilly MM, Muntoni F, Millan F, Muraresku CC, Need AC, Nemeth AH, Neuhaus SB, Norwood F, O'Donnell M, O'Driscoll M, Rankin J, Yum SW, Zolkipli-Cunningham Z, Brusius I, Wunderlich G; Genomics England Research Consortium; Karakaya M, Wirth B, Fakhro KA, Tajsharghi H, Bönnemann CG, Taylor JC, Houlden H. Pagnamenta AT, et al. Brain. 2021 Mar 3;144(2):584-600. doi: 10.1093/brain/awaa420. Brain. 2021. PMID: 33559681 Free PMC article.
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage.
Zou X, Koh GCC, Nanda AS, Degasperi A, Urgo K, Roumeliotis TI, Agu CA, Badja C, Momen S, Young J, Amarante TD, Side L, Brice G, Perez-Alonso V, Rueda D, Gomez C, Bushell W, Harris R, Choudhary JS; Genomics England Research Consortium; Jiricny J, Skarnes WC, Nik-Zainal S. Zou X, et al. Nat Cancer. 2021 Jun;2(6):643-657. doi: 10.1038/s43018-021-00200-0. Epub 2021 Apr 26. Nat Cancer. 2021. PMID: 34164627 Free PMC article.
75 results