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Items: 1 to 20 of 114

1.

'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Lochmüller H, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Lasko P, Dawkins HJ, Austin CP, Boycott KM.

Eur J Hum Genet. 2017 Feb;25(2):162-165. doi: 10.1038/ejhg.2016.137. Epub 2016 Oct 26.

2.

The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Lochmüller H, Torrent I Farnell J, Le Cam Y, Jonker AH, Lau LP, Baynam G, Kaufmann P, Dawkins HJ, Lasko P, Austin CP, Boycott KM; IRDiRC Consortium Assembly.

Eur J Hum Genet. 2017 Dec;25(12):1293-1302. doi: 10.1038/s41431-017-0008-z. Epub 2017 Nov 20.

3.

A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).

Cutillo CM, Austin CP, Groft SC.

Adv Exp Med Biol. 2017;1031:349-369. doi: 10.1007/978-3-319-67144-4_20.

PMID:
29214582
4.

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research.

Gainotti S, Turner C, Woods S, Kole A, McCormack P, Lochmüller H, Riess O, Straub V, Posada M, Taruscio D, Mascalzoni D.

Eur J Hum Genet. 2016 Aug;24(9):1248-54. doi: 10.1038/ejhg.2016.2. Epub 2016 Feb 10.

5.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

6.

The importance of international collaboration for rare diseases research: a European perspective.

Julkowska D, Austin CP, Cutillo CM, Gancberg D, Hager C, Halftermeyer J, Jonker AH, Lau LPL, Norstedt I, Rath A, Schuster R, Simelyte E, van Weely S.

Gene Ther. 2017 Sep;24(9):562-571. doi: 10.1038/gt.2017.29. Epub 2017 Jul 27. Review.

7.

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. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24.

8.

Rare disease registries: a call to action.

Lacaze P, Millis N, Fookes M, Zurynski Y, Jaffe A, Bellgard M, Winship I, McNeil J, Bittles AH.

Intern Med J. 2017 Sep;47(9):1075-1079. doi: 10.1111/imj.13528.

PMID:
28891182
10.

The NCI All Ireland Cancer Conference.

Johnston PG, Daly PA, Liu E.

Oncologist. 1999;4(4):275-277.

11.

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

Thompson R, Johnston L, Taruscio D, Monaco L, Béroud C, Gut IG, Hansson MG, 't Hoen PB, Patrinos GP, Dawkins H, Ensini M, Zatloukal K, Koubi D, Heslop E, Paschall JE, Posada M, Robinson PN, Bushby K, Lochmüller H.

J Gen Intern Med. 2014 Aug;29 Suppl 3:S780-7. doi: 10.1007/s11606-014-2908-8. Review.

12.

Rare Disease Biospecimens and Patient Registries: Interoperability for Research Promotion, a European Example: EuroBioBank and SpainRDR-BioNER.

Rubinstein YR, Posada de la Paz M, Mora M.

Adv Exp Med Biol. 2017;1031:141-147. doi: 10.1007/978-3-319-67144-4_7.

PMID:
29214569
13.

An Official American Thoracic Society Workshop Report: Translational Research in Rare Respiratory Diseases.

Kristof AS, Petrof BJ, Hamid Q, Kolb M, Landry JS, MacKenzie A, McCormack FX, Murawski IJ, Moss J, Rauch F, Rosas IO, Shapiro AJ, Smith BM, Thomas DY, Trapnell BC, Young LR, Zariwala MA; ATS Assembly on Respiratory Cell and Molecular Biology.

Ann Am Thorac Soc. 2017 Aug;14(8):1239-1247. doi: 10.1513/AnnalsATS.201705-406WS.

14.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

15.

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium.

Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27.

16.

Translating tuberculosis research into global policies: the example of an international collaboration on diagnostics.

Ramsay A, Steingart KR, Cunningham J, Pai M.

Int J Tuberc Lung Dis. 2011 Oct;15(10):1283-93. doi: 10.5588/ijtld.11.0297.

PMID:
22283885
17.

The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform.

Nurok M, Eslick I, Carvalho CR, Costabel U, D'Armiento J, Glanville AR, Harari S, Henske EP, Inoue Y, Johnson SR, Lacronique J, Lazor R, Moss J, Ruoss SJ, Ryu JH, Seyama K, Watz H, Xu KF, Hohmann EL, Moss F.

Lymphat Res Biol. 2010 Mar;8(1):81-7. doi: 10.1089/lrb.2009.0028.

PMID:
20235890
18.

[Patient database and orphan drug development].

Mizushima H, Tanabe M, Kanatani Y.

Yakugaku Zasshi. 2014;134(5):599-605. Review. Japanese.

19.

EU Pancreas: an integrated European platform for pancreas cancer research--from basic science to clinical and public health interventions for a rare disease.

Milne R, La Vecchia C, Van Steen K, Hahn S, Buchholz M, Costello E, Esposito I, Hoheisel JD, Lange B, Lopez-Bigas N, Michalski CW, Real FX, Brand A, Malats N.

Public Health Genomics. 2013;16(6):305-12. doi: 10.1159/000355937. Epub 2014 Feb 3.

PMID:
24503591
20.

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians.

Gahl WA, Boerkoel CF, Boehm M.

Dis Model Mech. 2012 Jan;5(1):3-5. doi: 10.1242/dmm.009258.

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