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Down syndrome: national conference on patient registries, research databases, and biobanks.
Oster-Granite ML, Parisi MA, Abbeduto L, Berlin DS, Bodine C, Bynum D, Capone G, Collier E, Hall D, Kaeser L, Kaufmann P, Krischer J, Livingston M, McCabe LL, Pace J, Pfenninger K, Rasmussen SA, Reeves RH, Rubinstein Y, Sherman S, Terry SF, Whitten MS, Williams S, McCabe ER, Maddox YT. Oster-Granite ML, et al. Among authors: rubinstein y. Mol Genet Metab. 2011 Sep-Oct;104(1-2):13-22. doi: 10.1016/j.ymgme.2011.07.005. Epub 2011 Jul 13. Mol Genet Metab. 2011. PMID: 21835664 Free PMC article.
Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).
Rubinstein YR, Groft SC, Bartek R, Brown K, Christensen RA, Collier E, Farber A, Farmer J, Ferguson JH, Forrest CB, Lockhart NC, McCurdy KR, Moore H, Pollen GB, Richesson R, Miller VR, Hull S, Vaught J. Rubinstein YR, et al. Contemp Clin Trials. 2010 Sep;31(5):394-404. doi: 10.1016/j.cct.2010.06.007. Epub 2010 Jul 8. Contemp Clin Trials. 2010. PMID: 20609392 Free PMC article.
Improving the value of clinical research through the use of Common Data Elements.
Sheehan J, Hirschfeld S, Foster E, Ghitza U, Goetz K, Karpinski J, Lang L, Moser RP, Odenkirchen J, Reeves D, Rubinstein Y, Werner E, Huerta M. Sheehan J, et al. Among authors: rubinstein y. Clin Trials. 2016 Dec;13(6):671-676. doi: 10.1177/1740774516653238. Epub 2016 Jun 15. Clin Trials. 2016. PMID: 27311638 Free PMC article.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D. Gainotti S, et al. Among authors: rubinstein y. Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396563 Free PMC article.
Data Quality in Rare Diseases Registries.
Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D. Kodra Y, et al. Among authors: rubinstein yr. Adv Exp Med Biol. 2017;1031:149-164. doi: 10.1007/978-3-319-67144-4_8. Adv Exp Med Biol. 2017. PMID: 29214570 Review.
Recommendations for Improving the Quality of Rare Disease Registries.
Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Müller H, Reis R, Bianchi F, Rubinstein YR, Lochmüller H, Taruscio D. Kodra Y, et al. Among authors: rubinstein yr. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644. doi: 10.3390/ijerph15081644. Int J Environ Res Public Health. 2018. PMID: 30081484 Free PMC article.
International Charter of principles for sharing bio-specimens and data.
Mascalzoni D, Dove ES, Rubinstein Y, Dawkins HJ, Kole A, McCormack P, Woods S, Riess O, Schaefer F, Lochmüller H, Knoppers BM, Hansson M. Mascalzoni D, et al. Among authors: rubinstein y. Eur J Hum Genet. 2015 Jun;23(6):721-8. doi: 10.1038/ejhg.2014.197. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248399 Free PMC article.
45 results