Program

130
29
10
7
7
3
2
2
1

Journal Year Published

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

Author

174
182
134
134
125
118
116
114
108
88
86
81
73
56
51
50
43
43
42
34

Category

78
66
29
29
23
11
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
4
4
4
4
3
3
3
3
3
2
2

NCATS Publications

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

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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

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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

Lessons from Toxicology: Developing a 21st-Century Paradigm for Medical Research.


Langley G, Austin C, Balapure AK, Birnbaum LS, Bucher JR, Fentem J, Fitzpatrick SC, Fowle JR, Kavlock RJ, Kitano H, Lidbury BA, Muotri AR, Peng SQ, Sakharov D, Seidle T, Trez T, Tonevitsky A, van de Stolpe A, Whelan M, Willett C


Environ. Health Perspect. , (123), A268-72, 2015.

Article Pubmed

The promise and peril of chemical probes.


Arrowsmith CH, et al.


Nat. Chem. Biol. , (11), 536-41, 2015.

Article Pubmed

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