Program

131
30
10
7
7
3
2
2
1

Journal Year Published

5
9
9
7
7
12
13
17
17
12
33
21
8
3
3

Author

177
185
145
136
127
123
118
117
108
97
88
81
77
58
54
50
46
46
42
37

Category

78
66
29
29
23
12
8
8
6
4
1

Keyword

99
49
36
35
32
24
23
20
17
16
14
14
13
12
12
11
11
10
10
10

Journal

12
10
9
8
8
7
7
5
5
5
4
4
4
3
3
3
3
3
2
2

NCATS Publications

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

Sample image from publication page

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 C, Jacoby J, Marella PD, Ottinger E, Austin C, Porter FD, Vite CH, Ory DS


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

Article Pubmed

Sample image from publication page

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

Sample image from publication page

'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

Putting translational science on to a global stage.


Gilliland CT, Zuk D, Kocis P, Johnson M, Hay S, Hajduch M, Bietrix F, Aversa G, Austin C, Ussi AE


Nat Rev Drug Discov , (15), 217-8, 2016.

Article Pubmed

Basic science: Bedrock of progress.


Collins FS, et al.


Science , (351), 1405, 2016.

Article Pubmed

Gene Therapy: The View from NCATS.


Brooks P, Yang NN, Austin C


Hum. Gene Ther. , (27), 7-13, 2016.

Article Pubmed