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Public health research on rare diseases.
Alonso V, Villaverde-Hueso A, Hens M, Morales-Piga A, Abaitua I, Posada de la Paz M. Alonso V, et al. Among authors: posada de la paz m. Georgian Med News. 2011 Apr;(193):11-6. Georgian Med News. 2011. PMID: 21617266
The Quality of Rare Disease Registries: Evaluation and Characterization.
Coi A, Santoro M, Villaverde-Hueso A, Lipucci Di Paola M, Gainotti S, Taruscio D, Posada de la Paz M, Bianchi F. Coi A, et al. Among authors: posada de la paz m. Public Health Genomics. 2016;19(2):108-15. doi: 10.1159/000444476. Epub 2016 Mar 22. Public Health Genomics. 2016. PMID: 26998603
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS. Baynam G, et al. Among authors: posada de la paz m. Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Adv Exp Med Biol. 2017. PMID: 29214566 Review.
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: posada de la paz m. 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.
Congenital Anomalies: Cluster Detection and Investigation.
Bermejo-Sánchez E, Posada de la Paz M. Bermejo-Sánchez E, et al. Among authors: posada de la paz m. Adv Exp Med Biol. 2017;1031:535-557. doi: 10.1007/978-3-319-67144-4_29. Adv Exp Med Biol. 2017. PMID: 29214591 Review.
Preparing for the Future of Rare Diseases.
Groft SC, Posada de la Paz M. Groft SC, et al. Among authors: posada de la paz m. Adv Exp Med Biol. 2017;1031:641-648. doi: 10.1007/978-3-319-67144-4_34. Adv Exp Med Biol. 2017. PMID: 29214596 Review.
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: de paulis f, posada de la paz m. 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.
151 results