-
1
-
-
85028106080
-
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
-
Gahl WA, Markello TC, Toro C, Fajardo KF, Sincan M, Gill F, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med (2012) 14:51-9. doi: 10.1038/gim.0b013e318232a005
-
(2012)
Genet Med
, vol.14
, pp. 51-59
-
-
Gahl, W.A.1
Markello, T.C.2
Toro, C.3
Fajardo, K.F.4
Sincan, M.5
Gill, F.6
-
2
-
-
37349116252
-
The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?
-
Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med (2007) 9:665-74. doi:10.1097/GIM.0b013e31815699d0
-
(2007)
Genet Med
, vol.9
, pp. 665-674
-
-
Khoury, M.J.1
Gwinn, M.2
Yoon, P.W.3
Dowling, N.4
Moore, C.A.5
Bradley, L.6
-
4
-
-
84988425770
-
Distributed cognition: toward a new foundation for human-computer interaction research
-
Hollan J, Hutchins E, Kirsh D. Distributed cognition: toward a new foundation for human-computer interaction research. ACM Trans Comput Hum Interact (2000) 7:174-96. doi:10.1145/353485.353487
-
(2000)
ACM Trans Comput Hum Interact
, vol.7
, pp. 174-196
-
-
Hollan, J.1
Hutchins, E.2
Kirsh, D.3
-
6
-
-
84876549568
-
Collaborative software for traditional and translational research
-
Berman AE, Barnett WK, Mooney SD. Collaborative software for traditional and translational research. Hum Genomics (2012) 6:21. doi:10.1186/1479-7364-6-21
-
(2012)
Hum Genomics
, vol.6
, pp. 21
-
-
Berman, A.E.1
Barnett, W.K.2
Mooney, S.D.3
-
7
-
-
84905646484
-
Translational research platforms integrating clinical and omics data: a review of publicly available solutions
-
Canuel V, Rance B, Avillach P, Degoulet P, Burgun A. Translational research platforms integrating clinical and omics data: a review of publicly available solutions. Brief Bioinform (2015) 16:280-90. doi:10.1093/bib/bbu006
-
(2015)
Brief Bioinform
, vol.16
, pp. 280-290
-
-
Canuel, V.1
Rance, B.2
Avillach, P.3
Degoulet, P.4
Burgun, A.5
-
8
-
-
84880508099
-
PhenoTips: patient phenotyping software for clinical and research use
-
Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, et al. PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat (2013) 34:1057-65. doi:10.1002/humu.22347
-
(2013)
Hum Mutat
, vol.34
, pp. 1057-1065
-
-
Girdea, M.1
Dumitriu, S.2
Fiume, M.3
Bowdin, S.4
Boycott, K.M.5
Chénier, S.6
-
9
-
-
84891749517
-
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
-
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res (2014) 42:D966-74. doi:10.1093/nar/gkt1026
-
(2014)
Nucleic Acids Res
, vol.42
, pp. D966-D974
-
-
Köhler, S.1
Doelken, S.C.2
Mungall, C.J.3
Bauer, S.4
Firth, H.V.5
Bailleul-Forestier, I.6
-
10
-
-
84892959492
-
Improved exome prioritization of disease genes through cross-species phenotype comparison
-
Robinson PN, Kohler S, Oellrich A; Sanger Mouse Genetics Project, Wang K, Mungall CJ, et al. Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res (2014) 24:340-8. doi:10.1101/gr.160325.113
-
(2014)
Genome Res
, vol.24
, pp. 340-348
-
-
Wang, K.1
Mungall, C.J.2
-
11
-
-
84898743768
-
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families
-
Singleton MV, Guthery SL, Voelkerding KV, Chen K, Kennedy B, Margraf RL, et al. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. Am J Hum Genet (2014) 94:599-610. doi:10.1016/j.ajhg.2014.03.010
-
(2014)
Am J Hum Genet
, vol.94
, pp. 599-610
-
-
Singleton, M.V.1
Guthery, S.L.2
Voelkerding, K.V.3
Chen, K.4
Kennedy, B.5
Margraf, R.L.6
-
13
-
-
34547864596
-
Madeline 2.0 PDE: a new program for local and web-based pedigree drawing
-
Trager EH, Khanna R, Marrs A, Siden L, Branham KE, Swaroop A, et al. Madeline 2.0 PDE: a new program for local and web-based pedigree drawing. Bioinformatics (2007) 23:1854-6. doi:10.1093/bioinformatics/btm242
-
(2007)
Bioinformatics
, vol.23
, pp. 1854-1856
-
-
Trager, E.H.1
Khanna, R.2
Marrs, A.3
Siden, L.4
Branham, K.E.5
Swaroop, A.6
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