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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. Among authors: von grotthuss m. 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.
High-throughput genetic clustering of type 2 diabetes loci reveals heterogeneous mechanistic pathways of metabolic disease.
Kim H, Westerman KE, Smith K, Chiou J, Cole JB, Majarian T, von Grotthuss M, Kwak SH, Kim J, Mercader JM, Florez JC, Gaulton K, Manning AK, Udler MS. Kim H, et al. Among authors: von grotthuss m. Diabetologia. 2023 Mar;66(3):495-507. doi: 10.1007/s00125-022-05848-6. Epub 2022 Dec 20. Diabetologia. 2023. PMID: 36538063 Free PMC article.
Integrative annotation of variants from 1092 humans: application to cancer genomics.
Khurana E, Fu Y, Colonna V, Mu XJ, Kang HM, Lappalainen T, Sboner A, Lochovsky L, Chen J, Harmanci A, Das J, Abyzov A, Balasubramanian S, Beal K, Chakravarty D, Challis D, Chen Y, Clarke D, Clarke L, Cunningham F, Evani US, Flicek P, Fragoza R, Garrison E, Gibbs R, Gümüş ZH, Herrero J, Kitabayashi N, Kong Y, Lage K, Liluashvili V, Lipkin SM, MacArthur DG, Marth G, Muzny D, Pers TH, Ritchie GRS, Rosenfeld JA, Sisu C, Wei X, Wilson M, Xue Y, Yu F; 1000 Genomes Project Consortium; Dermitzakis ET, Yu H, Rubin MA, Tyler-Smith C, Gerstein M. Khurana E, et al. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. Science. 2013. PMID: 24092746 Free PMC article.
A phase 1/2 safety and efficacy study of TAK-754 gene therapy: The challenge of achieving durable factor VIII expression in haemophilia A clinical trials.
Chapin J, Álvarez Román MT, Ayash-Rashkovsky M, Diogo D, Kenniston J, Lopez-Jaime FJ, Maggiore C, Mingot-Castellano ME, Rajavel K, Rauch A, Susen S, von Grotthuss M, Wagoner M, Wang Q. Chapin J, et al. Among authors: von grotthuss m. Haemophilia. 2024 Dec 23. doi: 10.1111/hae.15121. Online ahead of print. Haemophilia. 2024. PMID: 39716875
Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science.
Unni DR, Moxon SAT, Bada M, Brush M, Bruskiewich R, Caufield JH, Clemons PA, Dancik V, Dumontier M, Fecho K, Glusman G, Hadlock JJ, Harris NL, Joshi A, Putman T, Qin G, Ramsey SA, Shefchek KA, Solbrig H, Soman K, Thessen AE, Haendel MA, Bizon C, Mungall CJ; Biomedical Data Translator Consortium. Unni DR, et al. Clin Transl Sci. 2022 Aug;15(8):1848-1855. doi: 10.1111/cts.13302. Epub 2022 Jun 6. Clin Transl Sci. 2022. PMID: 36125173 Free PMC article. Review.
Progress toward a universal biomedical data translator.
Fecho K, Thessen AE, Baranzini SE, Bizon C, Hadlock JJ, Huang S, Roper RT, Southall N, Ta C, Watkins PB, Williams MD, Xu H, Byrd W, Dančík V, Duby MP, Dumontier M, Glusman G, Harris NL, Hinderer EW, Hyde G, Johs A, Su AI, Qin G, Zhu Q; Biomedical Data Translator Consortium. Fecho K, et al. Clin Transl Sci. 2022 Aug;15(8):1838-1847. doi: 10.1111/cts.13301. Epub 2022 Jun 6. Clin Transl Sci. 2022. PMID: 35611543 Free PMC article. Review.
The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology.
Mejhert N, Gabriel KR, Frendo-Cumbo S, Krahmer N, Song J, Kuruvilla L, Chitraju C, Boland S, Jang DK, von Grotthuss M, Costanzo MC, Rydén M, Olzmann JA, Flannick J, Burtt NP, Farese RV Jr, Walther TC. Mejhert N, et al. Among authors: von grotthuss m. Dev Cell. 2022 Feb 7;57(3):387-397.e4. doi: 10.1016/j.devcel.2022.01.003. Dev Cell. 2022. PMID: 35134345 Free PMC article.
Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: A soft clustering analysis.
Udler MS, Kim J, von Grotthuss M, Bonàs-Guarch S, Cole JB, Chiou J; Christopher D. Anderson on behalf of METASTROKE and the ISGC; Boehnke M, Laakso M, Atzmon G, Glaser B, Mercader JM, Gaulton K, Flannick J, Getz G, Florez JC. Udler MS, et al. Among authors: von grotthuss m. PLoS Med. 2018 Sep 21;15(9):e1002654. doi: 10.1371/journal.pmed.1002654. eCollection 2018 Sep. PLoS Med. 2018. PMID: 30240442 Free PMC article.
Cerebrovascular Disease Knowledge Portal: An Open-Access Data Resource to Accelerate Genomic Discoveries in Stroke.
Crawford KM, Gallego-Fabrega C, Kourkoulis C, Miyares L, Marini S, Flannick J, Burtt NP, von Grotthuss M, Alexander B, Costanzo MC, Vaishnav NH, Malik R, Hall JL, Chong M, Rosand J, Falcone GJ; International Stroke Genetics Consortium. Crawford KM, et al. Among authors: von grotthuss m. Stroke. 2018 Feb;49(2):470-475. doi: 10.1161/STROKEAHA.117.018922. Epub 2018 Jan 15. Stroke. 2018. PMID: 29335331 Free PMC article. Review. No abstract available.
40 results