Program

131
30
10
7
7
3
2
2
1

Journal Year Published

2
6
9
10
7
7
12
13
17
17
12
33
21
8
3
3

Author

181
201
149
139
133
133
125
123
108
105
95
82
78
63
62
54
50
46
43
43

Category

78
66
29
29
23
12
8
8
6
4
1

Keyword

102
49
36
35
32
24
23
20
17
16
14
14
13
12
12
11
11
10
10
10

Journal

12
10
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8
7
7
6
5
5
4
4
4
3
3
3
3
3
2
2

NCATS Publications

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 C, Boycott KM, IRDiRC Consortium Assembly


Eur. J. Hum. Genet. , 2017.

Article Pubmed

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Voluntary Site Accreditation - Improving the Execution of Multicenter Clinical Trials.


Johnston SC, Austin C, Lewis-Hall F


N. Engl. J. Med. , (377), 1414-1415, 2017.

Article Pubmed

Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.


Ory DS, Ottinger E, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin C, Porter FD


Lancet , 2017.

Article Pubmed

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Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective.


Austin C, Cutillo C, Lau LP, Jonker AH, Rath A, Julkowska D, Thomson D, Terry S, de Montleau B, Ardigò D, Hivert V, Boycott KM, Baynam G, Kaufmann P, Taruscio D, Lochmüller H, Suematsu M, Incerti C, Draghia-Akli R, Norstedt I, Wang L, Dawkins HJ, International Rare Diseases Research Consortium (IRDiRC)


Clin Transl Sci , 2017.

Article Pubmed

Progress in rare diseases research 2010-2016: an IRDiRC perspective.


Dawkins HJ, Draghia-Akli R, Lasko P, Lau LP, Jonker AH, Cutillo C, Rath A, Boycott KM, Baynam G, Lochmüller H, Kaufmann P, Cam YL, Hivert V, Austin C, International Rare Diseases Research Consortium (IRDiRC)


Clin Transl Sci , 2017.

Article Pubmed

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


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


Gene Ther. , 2017.

Article Pubmed

Fostering collaborative research for rare genetic disease: the example of niemann-pick type C disease.


Walkley SU, Davidson CD, Jacoby J, Marella PD, Ottinger E, Austin C, Porter FD, Vite CH, Ory DS


Orphanet J Rare Dis , (11), 161, 2016.

Article Pubmed

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ML372 blocks SMN ubiquitination and improves spinal muscular atrophy pathology in mice.


Abera MB, Xiao J, Nofziger J, Titus S, Southall N, Zheng W, Moritz KE, Ferrer-Alegre M, Cherry JJ, Androphy EJ, Wang A, Xu X, Austin C, Fischbeck KH, Marugan J, Burnett BG


JCI Insight , (1), e88427, 2016.

Article Pubmed

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'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 C, Boycott KM


Eur. J. Hum. Genet. , 2016.

Article Pubmed

Sample image from publication page