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Page 1
The Human Phenotype Ontology in 2017.
Köhler S, Vasilevsky NA, Engelstad M, Foster E, McMurry J, Aymé S, Baynam G, Bello SM, Boerkoel CF, Boycott KM, Brudno M, Buske OJ, Chinnery PF, Cipriani V, Connell LE, Dawkins HJ, DeMare LE, Devereau AD, de Vries BB, Firth HV, Freson K, Greene D, Hamosh A, Helbig I, Hum C, Jähn JA, James R, Krause R, F Laulederkind SJ, Lochmüller H, Lyon GJ, Ogishima S, Olry A, Ouwehand WH, Pontikos N, Rath A, Schaefer F, Scott RH, Segal M, Sergouniotis PI, Sever R, Smith CL, Straub V, Thompson R, Turner C, Turro E, Veltman MW, Vulliamy T, Yu J, von Ziegenweidt J, Zankl A, Züchner S, Zemojtel T, Jacobsen JO, Groza T, Smedley D, Mungall CJ, Haendel M, Robinson PN. Köhler S, et al. Among authors: ayme s. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876. doi: 10.1093/nar/gkw1039. Epub 2016 Nov 28. Nucleic Acids Res. 2017. PMID: 27899602 Free PMC article. Review.
Ontological phenotype standards for neurogenetics.
Köhler S, Doelken SC, Rath A, Aymé S, Robinson PN. Köhler S, et al. Among authors: ayme s. Hum Mutat. 2012 Sep;33(9):1333-9. doi: 10.1002/humu.22112. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22573485
Dispelling myths about rare disease registry system development.
Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A. Bellgard M, et al. Among authors: ayme s. Source Code Biol Med. 2013 Oct 16;8(1):21. doi: 10.1186/1751-0473-8-21. Source Code Biol Med. 2013. PMID: 24131574 Free PMC article.
Correction: Dispelling myths about rare disease registry system development.
Bellgard M, Beroud C, Parkinson K, Harris T, Ayme S, Baynam G, Weeramanthri T, Dawkins H, Hunter A. Bellgard M, et al. Among authors: ayme s. Source Code Biol Med. 2014 Jan 31;9(1):4. doi: 10.1186/1751-0473-9-4. Source Code Biol Med. 2014. PMID: 24484969 Free PMC article. No abstract available.
Rare diseases and now rare data?
Mascalzoni D, Knoppers BM, Aymé S, Macilotti M, Dawkins H, Woods S, Hansson MG. Mascalzoni D, et al. Among authors: ayme s. Nat Rev Genet. 2013 Jun;14(6):372. doi: 10.1038/nrg3494. Nat Rev Genet. 2013. PMID: 23821785 No abstract available.
Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Aymé S, Bockenhauer D, Day S, Devuyst O, Guay-Woodford LM, Ingelfinger JR, Klein JB, Knoers NVAM, Perrone RD, Roberts J, Schaefer F, Torres VE, Cheung M, Wheeler DC, Winkelmayer WC; Conference Participants. Aymé S, et al. Kidney Int. 2017 Oct;92(4):796-808. doi: 10.1016/j.kint.2017.06.018. Kidney Int. 2017. PMID: 28938953 Free PMC article.
180 results