1. Lopez-de la Rosa A, Telleria JJ, Posada de la Paz M, Hermosilla-Gimeno IM, Rivas MA, Gilabert R, Coco-Martín RM. Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry. Orphanet J Rare Dis. 2024 Jun 13;19(1):234.
2. Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, Arconada-López B, Ruiz-García B, Posada de la Paz M, Alonso-Ferreira V. Psychosocial impact at the time of a rare disease diagnosis. PLoS One. 2023 Jul 28;18(7):e0288875.
3. Gallego E, Arias-Merino G, Sánchez-Díaz G, Villaverde-Hueso A, Posada de la Paz M, Alonso-Ferreira V. Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations. Int J Environ Res Public Health. 2023 Feb 28;20(5):4374.
4. Benito-Lozano J, López-Villalba B, Arias-Merino G, Posada de la Paz M, Alonso-Ferreira V. Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry. Orphanet J Rare Dis. 2022 Nov 17;17(1):418.
5. Garrido-Estepa M, Arias-Merino G, Alonso-Ferreira V, Villaverde-Hueso A, Posada de la Paz M. The impact of toxic oil syndrome on physical and psychological health status using the HAQ and the PHQ-9 questionnaires. Qual Life Res. 2022 Oct;31(10):2995-3008.
6. Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, Ancochea-Díaz A, Aparicio-García A, Posada de la Paz M, Alonso-Ferreira V. Diagnostic Process in Rare Diseases: Determinants Associated with Diagnostic Delay. Int J Environ Res Public Health. 2022 May 26;19(11):6456.
7. Posada de la Paz M, Díaz-Guerra E, Alonso-Ferreira V, Villaverde-Hueso A, Arias-Merino G, Garrido-Estepa M. Toxic oil syndrome: health-related quality-of-life assessment using the SF-36 Health Survey. Int J Epidemiol. 2022 May 9;51(2):491-500.
8. 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. Recommendations for Improving the Quality of Rare Disease Registries. Int J Environ Res Public Health. 2018 Aug 3;15(8):1644.
9. 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. The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. Eur J Hum Genet. 2018 May;26(5):631-643.
10. Kodra Y, Posada de la Paz M, Coi A, Santoro M, Bianchi F, Ahmed F, Rubinstein YR, Weinbach J, Taruscio D. Data Quality in Rare Diseases Registries. Adv Exp Med Biol. 2017;1031:149-164.