138 related articles for article (PubMed ID: 38914824)
1. Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).
Ellwanger K; Brill JA; de Boer E; Efthymiou S; Elgersma Y; Icmat M; Lecoquierre F; Lobato AG; Morleo M; Ori M; Schaffer AE; Vitobello A; Wells S; Yalcin B; Zhai RG; Sturm M; Zurek B; Graessner H; Bermejo-Sánchez E; Evangelista T; Hoogerbrugge N; Nigro V; Schüle R; Verloes A; Brunner H; Campeau PM; Lasko P; Riess O
Lab Anim (NY); 2024 Jul; 53(7):161-165. PubMed ID: 38914824
[TBL] [Abstract][Full Text] [Related]
2. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Boycott KM; Campeau PM; Howley HE; Pavlidis P; Rogic S; Oriel C; Berman JN; Hamilton RM; Hicks GG; Lipshitz HD; Masson JY; Shoubridge EA; Junker A; Leroux MR; McMaster CR; Michaud JL; Turvey SE; Dyment D; Innes AM; van Karnebeek CD; Lehman A; Cohn RD; MacDonald IM; Rachubinski RA; Frosk P; Vandersteen A; Wozniak RW; Pena IA; Wen XY; Lacaze-Masmonteil T; Rankin C; Hieter P
Am J Hum Genet; 2020 Feb; 106(2):143-152. PubMed ID: 32032513
[TBL] [Abstract][Full Text] [Related]
3. PhenomeCentral: 7 years of rare disease matchmaking.
Osmond M; Hartley T; Johnstone B; Andjic S; Girdea M; Gillespie M; Buske O; Dumitriu S; Koltunova V; Ramani A; Boycott KM; Brudno M
Hum Mutat; 2022 Jun; 43(6):674-681. PubMed ID: 35165961
[TBL] [Abstract][Full Text] [Related]
4. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek B; Ellwanger K; Vissers LELM; Schüle R; Synofzik M; Töpf A; de Voer RM; Laurie S; Matalonga L; Gilissen C; Ossowski S; 't Hoen PAC; Vitobello A; Schulze-Hentrich JM; Riess O; Brunner HG; Brookes AJ; Rath A; Bonne G; Gumus G; Verloes A; Hoogerbrugge N; Evangelista T; Harmuth T; Swertz M; Spalding D; Hoischen A; Beltran S; Graessner H;
Eur J Hum Genet; 2021 Sep; 29(9):1325-1331. PubMed ID: 34075208
[TBL] [Abstract][Full Text] [Related]
5. Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.
Boycott KM; Azzariti DR; Hamosh A; Rehm HL
Hum Mutat; 2022 Jun; 43(6):659-667. PubMed ID: 35537081
[TBL] [Abstract][Full Text] [Related]
6. Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
Wangler MF; Yamamoto S; Chao HT; Posey JE; Westerfield M; Postlethwait J; ; Hieter P; Boycott KM; Campeau PM; Bellen HJ
Genetics; 2017 Sep; 207(1):9-27. PubMed ID: 28874452
[TBL] [Abstract][Full Text] [Related]
7. ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research.
Harnish JM; Li L; Rogic S; Poirier-Morency G; Kim SY; ; Boycott KM; Wangler MF; Bellen HJ; Hieter P; Pavlidis P; Liu Z; Yamamoto S
Hum Mutat; 2022 Jun; 43(6):743-759. PubMed ID: 35224820
[TBL] [Abstract][Full Text] [Related]
8. Participant-driven matchmaking in the genomic era.
Lambertson KF; Damiani SA; Might M; Shelton R; Terry SF
Hum Mutat; 2015 Oct; 36(10):965-73. PubMed ID: 26252162
[TBL] [Abstract][Full Text] [Related]
9. Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.
LeBlanc K; Glanton E; Nagy A; Bater J; Berro T; McGuinness MA; Studwell C; ; Might M
Orphanet J Rare Dis; 2021 May; 16(1):210. PubMed ID: 33971915
[TBL] [Abstract][Full Text] [Related]
10. A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration.
Kinsner-Ovaskainen A; Lanzoni M; Garne E; Loane M; Morris J; Neville A; Nicholl C; Rankin J; Rissmann A; Tucker D; Martin S
Eur J Med Genet; 2018 Sep; 61(9):513-517. PubMed ID: 29597096
[TBL] [Abstract][Full Text] [Related]
11. The challenge for a European network of biobanks for rare diseases taken up by RD-Connect.
Monaco L; Crimi M; Wang CM
Pathobiology; 2014; 81(5-6):231-236. PubMed ID: 25792211
[TBL] [Abstract][Full Text] [Related]
12. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
Mora M; Angelini C; Bignami F; Bodin AM; Crimi M; Di Donato JH; Felice A; Jaeger C; Karcagi V; LeCam Y; Lynn S; Meznaric M; Moggio M; Monaco L; Politano L; de la Paz MP; Saker S; Schneiderat P; Ensini M; Garavaglia B; Gurwitz D; Johnson D; Muntoni F; Puymirat J; Reza M; Voit T; Baldo C; Bricarelli FD; Goldwurm S; Merla G; Pegoraro E; Renieri A; Zatloukal K; Filocamo M; Lochmüller H
Eur J Hum Genet; 2015 Sep; 23(9):1116-23. PubMed ID: 25537360
[TBL] [Abstract][Full Text] [Related]
13. The many faces of rare diseases (RD): meeting report on Rare Disease in South-Eastern Europe, 15-16 November 2013, Skopje, Republic of Macedonia.
Gucev Z; Tasic V; Polenakovic M
Pediatr Endocrinol Rev; 2014 Mar; 11(3):337-8. PubMed ID: 24716400
[TBL] [Abstract][Full Text] [Related]
14. How the EUCERD Joint Action supported initiatives on Rare Diseases.
Lynn S; Hedley V; Atalaia A; Evangelista T; Bushby K;
Eur J Med Genet; 2017 Mar; 60(3):185-189. PubMed ID: 28087401
[TBL] [Abstract][Full Text] [Related]
15. Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project.
Angin C; Mazzucato M; Weber S; Kirch K; Abdel Khalek W; Ali H; Maiella S; Olry A; Jannot AS; Rath A
Orphanet J Rare Dis; 2024 Jan; 19(1):28. PubMed ID: 38280999
[TBL] [Abstract][Full Text] [Related]
16. RaDiCo, the French national research program on rare disease cohorts.
Amselem S; Gueguen S; Weinbach J; Clement A; Landais P;
Orphanet J Rare Dis; 2021 Oct; 16(1):454. PubMed ID: 34715889
[TBL] [Abstract][Full Text] [Related]
17. A model for the European platform for rare disease registries.
Vittozzi L; Gainotti S; Mollo E; Donati C; Taruscio D
Public Health Genomics; 2013; 16(6):299-304. PubMed ID: 24503590
[TBL] [Abstract][Full Text] [Related]
18. Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Driver HG; Hartley T; Price EM; Turinsky AL; Buske OJ; Osmond M; Ramani AK; Kirby E; Kernohan KD; Couse M; Elrick H; Lu K; Mashouri P; Mohan A; So D; Klamann C; Le HGBH; Herscovich A; Marshall CR; Statia A; Canada Consortium CR; Knoppers BM; Brudno M; Boycott KM
Hum Mutat; 2022 Jun; 43(6):800-811. PubMed ID: 35181971
[TBL] [Abstract][Full Text] [Related]
19. Rare diseases in the year 2019 - the Czech and international context.
Macek M
Cas Lek Cesk; 2019; 158(1):33-37. PubMed ID: 31046390
[TBL] [Abstract][Full Text] [Related]
20. 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
Int J Environ Res Public Health; 2018 Aug; 15(8):. PubMed ID: 30081484
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
