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Year Number of Results
1997 1
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2004 1
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2010 2
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2015 1
2016 3
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35 results

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Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.
Costanzo MC, von Grotthuss M, Massung J, Jang D, Caulkins L, Koesterer R, Gilbert C, Welch RP, Kudtarkar P, Hoang Q, Boughton AP, Singh P, Sun Y, Duby M, Moriondo A, Nguyen T, Smadbeck P, Alexander BR, Brandes M, Carmichael M, Dornbos P, Green T, Huellas-Bruskiewicz KC, Ji Y, Kluge A, McMahon AC, Mercader JM, Ruebenacker O, Sengupta S, Spalding D, Taliun D; AMP-T2D Consortium; Smith P, Thomas MK, Akolkar B, Brosnan MJ, Cherkas A, Chu AY, Fauman EB, Fox CS, Kamphaus TN, Miller MR, Nguyen L, Parsa A, Reilly DF, Ruetten H, Wholley D, Zaghloul NA, Abecasis GR, Altshuler D, Keane TM, McCarthy MI, Gaulton KJ, Florez JC, Boehnke M, Burtt NP, Flannick J. Costanzo MC, et al. Cell Metab. 2023 Apr 4;35(4):695-710.e6. doi: 10.1016/j.cmet.2023.03.001. Epub 2023 Mar 23. Cell Metab. 2023. PMID: 36963395 Free PMC article.
Third, we describe how existing users can extend their current workflows to use the full suite of tools offered by the T2DKP. We finally discuss the lessons offered by the T2DKP toward the goal of democratizing access to complex disease genetic results....
Third, we describe how existing users can extend their current workflows to use the full suite of tools offered by the T2DKP. We fina …
Microbial Effectors: Key Determinants in Plant Health and Disease.
Todd JNA, Carreón-Anguiano KG, Islas-Flores I, Canto-Canché B. Todd JNA, et al. Microorganisms. 2022 Oct 6;10(10):1980. doi: 10.3390/microorganisms10101980. Microorganisms. 2022. PMID: 36296254 Free PMC article. Review.
Effectors of plant pathogens as well as plant endophytes are tools to be considered in effectoromics for the development of novel strategies for disease management. ...
Effectors of plant pathogens as well as plant endophytes are tools to be considered in effectoromics for the development of novel str …
Enzymatic breakage of dimethylsulfoniopropionate-a signature molecule for life at sea.
Johnston AW, Green RT, Todd JD. Johnston AW, et al. Among authors: todd jd. Curr Opin Chem Biol. 2016 Apr;31:58-65. doi: 10.1016/j.cbpa.2016.01.011. Epub 2016 Feb 4. Curr Opin Chem Biol. 2016. PMID: 26851513 Review.
Here, we review more recent advances in which in vitro biochemical tools-including structural determinations-have shed new light on how the corresponding enzymes act on DMSP. ...
Here, we review more recent advances in which in vitro biochemical tools-including structural determinations-have shed new light on h …
How can occupational therapists measure outcomes in palliative care?
Pearson EJ, Todd JG, Futcher JM. Pearson EJ, et al. Among authors: todd jg. Palliat Med. 2007 Sep;21(6):477-85. doi: 10.1177/0269216307081941. Palliat Med. 2007. PMID: 17846087 Review.
Several possibilities beyond traditional functional measures are considered, and the notion of quality of life (QoL) as a potential measure and routine part of assessment is discussed.A systematic literature search resulted in 45 QoL tools that might be suitable for pallia …
Several possibilities beyond traditional functional measures are considered, and the notion of quality of life (QoL) as a potential measure …
From genome to aetiology in a multifactorial disease, type 1 diabetes.
Todd JA. Todd JA. Bioessays. 1999 Feb;21(2):164-74. doi: 10.1002/(SICI)1521-1878(199902)21:2<164::AID-BIES10>3.0.CO;2-4. Bioessays. 1999. PMID: 10193189 Review.
Their functions and interaction underpin an emerging picture of the basic causes of the disease and direct analyses towards other candidate genes and pathways. The genetic tools used for QTL identification include transgenesis and gene knockouts, whole genome scanning for …
Their functions and interaction underpin an emerging picture of the basic causes of the disease and direct analyses towards other candidate …
INSPIRE datahub: a pan-African integrated suite of services for harmonising longitudinal population health data using OHDSI tools.
Bhattacharjee T, Kiwuwa-Muyingo S, Kanjala C, Maoyi ML, Amadi D, Ochola M, Kadengye D, Gregory A, Kiragga A, Taylor A, Greenfield J, Slaymaker E, Todd J; INSPIRE Network. Bhattacharjee T, et al. Among authors: todd j. Front Digit Health. 2024 Jan 29;6:1329630. doi: 10.3389/fdgth.2024.1329630. eCollection 2024. Front Digit Health. 2024. PMID: 38347885 Free PMC article. Review.
The datahub supports the implementation of OMOP CDM across data producers, harmonizing source data semantically with standard vocabularies and structurally conforming to OMOP table structures. Leveraging OHDSI tools, the datahub performs quality assessment and analysis of …
The datahub supports the implementation of OMOP CDM across data producers, harmonizing source data semantically with standard vocabularies a …
Open Targets Genetics: systematic identification of trait-associated genes using large-scale genetics and functional genomics.
Ghoussaini M, Mountjoy E, Carmona M, Peat G, Schmidt EM, Hercules A, Fumis L, Miranda A, Carvalho-Silva D, Buniello A, Burdett T, Hayhurst J, Baker J, Ferrer J, Gonzalez-Uriarte A, Jupp S, Karim MA, Koscielny G, Machlitt-Northen S, Malangone C, Pendlington ZM, Roncaglia P, Suveges D, Wright D, Vrousgou O, Papa E, Parkinson H, MacArthur JAL, Todd JA, Barrett JC, Schwartzentruber J, Hulcoop DG, Ochoa D, McDonagh EM, Dunham I. Ghoussaini M, et al. Among authors: todd ja. Nucleic Acids Res. 2021 Jan 8;49(D1):D1311-D1320. doi: 10.1093/nar/gkaa840. Nucleic Acids Res. 2021. PMID: 33045747 Free PMC article.
Open Targets Genetics can be searched by variant, gene or study/phenotype. It offers tools that enable users to prioritise causal variants and genes at disease-associated loci and access systematic cross-disease and disease-molecular trait colocalization analysis across 92 …
Open Targets Genetics can be searched by variant, gene or study/phenotype. It offers tools that enable users to prioritise causal var …
35 results