Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

151 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: posada de la paz m. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
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.
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.
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.
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
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: posada de la paz m. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
EUROPLAN: a project to support the development of national plans on rare diseases in Europe.
Taruscio D, Gentile AE, De Santis M, Ferrelli RM, Posada de la Paz M, Hens M, Huizer J, Fregonese L, Stefanov R, Bottarelli V, Weinman A, Le Cam Y, Gavhed D, Mincarone P, Bushby K, Frazzica RG, Donati C, Vittozzi L, Jessop E. Taruscio D, et al. Among authors: de santis m, posada de la paz m. Public Health Genomics. 2013;16(6):278-87. doi: 10.1159/000355932. Epub 2014 Feb 3. Public Health Genomics. 2013. PMID: 24503588
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: posada de la paz m. 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.
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
151 results