-
1
-
-
85011822289
-
-
Report of the National Commission on Orphan Diseases. Office of the Assistant Secretary for Health, Public Health Service, US Department of Health and Human Services, February, p. 17.
-
1 National Technical Information Services (1989). Report of the National Commission on Orphan Diseases. Office of the Assistant Secretary for Health, Public Health Service, US Department of Health and Human Services, February 1989, p. 17. https://rarediseases.info.nih.gov/files/report_of_the_national_commission_on_orphan_diseases_february_1989.pdf.
-
(1989)
-
-
-
2
-
-
85028106080
-
-
2 Gahl, W.A., Markello, T.C., Toro, C., Fajardo, K.F., Sincan, M., Gill, F., Carlson-Donohoe, H., Gropman, A., Pierson, T.M., Golas, G., et al. Genet. Med. 14 (2012), 51–59.
-
(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
Carlson-Donohoe, H.7
Gropman, A.8
Pierson, T.M.9
Golas, G.10
-
3
-
-
84946027565
-
-
3 Gahl, W.A., Wise, A.L., Ashley, E.A., JAMA 314 (2015), 1797–1798.
-
(2015)
JAMA
, vol.314
, pp. 1797-1798
-
-
Gahl, W.A.1
Wise, A.L.2
Ashley, E.A.3
-
4
-
-
84956643608
-
-
4 Gahl, W.A., Mulvihill, J.J., Toro, C., Markello, T.C., Wise, A.L., Ramoni, R.B., Adams, D.R., Tifft, C.J., UDN. Mol. Genet. Metab. 117 (2016), 393–400.
-
(2016)
Mol. Genet. Metab.
, vol.117
, pp. 393-400
-
-
Gahl, W.A.1
Mulvihill, J.J.2
Toro, C.3
Markello, T.C.4
Wise, A.L.5
Ramoni, R.B.6
Adams, D.R.7
Tifft, C.J.8
-
5
-
-
84907291749
-
-
5 Petrovski, S., Goldstein, D.B., Sci. Transl. Med., 6, 2014, 254fs35.
-
(2014)
Sci. Transl. Med.
, vol.6
, pp. 254fs35
-
-
Petrovski, S.1
Goldstein, D.B.2
-
6
-
-
84969163133
-
The National Academies Collection: Reports funded by National Institutes of Health
-
National Academies Press
-
6 National Research Council Committee on a Framework for Developing a New Taxonomy of Disease. The National Academies Collection: Reports funded by National Institutes of Health. Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease, 2011, National Academies Press https://www.ncbi.nlm.nih.gov/books/NBK4119/.
-
(2011)
Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease
-
-
-
7
-
-
84891749517
-
-
7 Köhler, S., Doelken, S.C., Mungall, C.J., Bauer, S., Firth, H.V., Bailleul-Forestier, I., Black, G.C., Brown, D.L., Brudno, M., Campbell, J., et al. Nucleic Acids Res. 42 (2014), D966–D974.
-
(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
Black, G.C.7
Brown, D.L.8
Brudno, M.9
Campbell, J.10
-
8
-
-
84902173195
-
-
8 Beaulieu, C.L., Majewski, J., Schwartzentruber, J., Samuels, M.E., Fernandez, B.A., Bernier, F.P., Brudno, M., Knoppers, B., Marcadier, J., Dyment, D., et al., FORGE Canada Consortium. Am. J. Hum. Genet. 94 (2014), 809–817.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 809-817
-
-
Beaulieu, C.L.1
Majewski, J.2
Schwartzentruber, J.3
Samuels, M.E.4
Fernandez, B.A.5
Bernier, F.P.6
Brudno, M.7
Knoppers, B.8
Marcadier, J.9
Dyment, D.10
-
9
-
-
84880508099
-
-
9 Girdea, M., Dumitriu, S., Fiume, M., Bowdin, S., Boycott, K.M., Chénier, S., Chitayat, D., Faghfoury, H., Meyn, M.S., Ray, P.N., et al. Hum. Mutat. 34 (2013), 1057–1065.
-
(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
Chitayat, D.7
Faghfoury, H.8
Meyn, M.S.9
Ray, P.N.10
-
10
-
-
84941874149
-
-
10 Buske, O.J., Girdea, M., Dumitriu, S., Gallinger, B., Hartley, T., Trang, H., Misyura, A., Friedman, T., Beaulieu, C., Bone, W.P., et al. Hum. Mutat. 36 (2015), 931–940.
-
(2015)
Hum. Mutat.
, vol.36
, pp. 931-940
-
-
Buske, O.J.1
Girdea, M.2
Dumitriu, S.3
Gallinger, B.4
Hartley, T.5
Trang, H.6
Misyura, A.7
Friedman, T.8
Beaulieu, C.9
Bone, W.P.10
-
11
-
-
84892959492
-
-
11 Robinson, P.N., Köhler, S., Oellrich, A., Wang, K., Mungall, C.J., Lewis, S.E., Washington, N., Bauer, S., Seelow, D., Krawitz, P., et al., Sanger Mouse Genetics Project. Genome Res. 24 (2014), 340–348.
-
(2014)
Genome Res.
, vol.24
, pp. 340-348
-
-
Robinson, P.N.1
Köhler, S.2
Oellrich, A.3
Wang, K.4
Mungall, C.J.5
Lewis, S.E.6
Washington, N.7
Bauer, S.8
Seelow, D.9
Krawitz, P.10
-
12
-
-
77649238270
-
-
12 Rehman, A.U., Morell, R.J., Belyantseva, I.A., Khan, S.Y., Boger, E.T., Shahzad, M., Ahmed, Z.M., Riazuddin, S., Khan, S.N., Riazuddin, S., Friedman, T.B., Am. J. Hum. Genet. 86 (2010), 378–388.
-
(2010)
Am. J. Hum. Genet.
, vol.86
, pp. 378-388
-
-
Rehman, A.U.1
Morell, R.J.2
Belyantseva, I.A.3
Khan, S.Y.4
Boger, E.T.5
Shahzad, M.6
Ahmed, Z.M.7
Riazuddin, S.8
Khan, S.N.9
Riazuddin, S.10
Friedman, T.B.11
-
13
-
-
77955084820
-
-
13 Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M.K., Thornton, A.M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K.B., King, M.C., Kanaan, M., Am. J. Hum. Genet. 87 (2010), 90–94.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 90-94
-
-
Walsh, T.1
Shahin, H.2
Elkan-Miller, T.3
Lee, M.K.4
Thornton, A.M.5
Roeb, W.6
Abu Rayyan, A.7
Loulus, S.8
Avraham, K.B.9
King, M.C.10
Kanaan, M.11
-
14
-
-
77958469483
-
-
14 Rios, J., Stein, E., Shendure, J., Hobbs, H.H., Cohen, J.C., Hum. Mol. Genet. 19 (2010), 4313–4318.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4313-4318
-
-
Rios, J.1
Stein, E.2
Shendure, J.3
Hobbs, H.H.4
Cohen, J.C.5
-
15
-
-
84899065140
-
-
15 Sadat, M.A., Moir, S., Chun, T.W., Lusso, P., Kaplan, G., Wolfe, L., Memoli, M.J., He, M., Vega, H., Kim, L.J., et al. N. Engl. J. Med. 370 (2014), 1615–1625.
-
(2014)
N. Engl. J. Med.
, vol.370
, pp. 1615-1625
-
-
Sadat, M.A.1
Moir, S.2
Chun, T.W.3
Lusso, P.4
Kaplan, G.5
Wolfe, L.6
Memoli, M.J.7
He, M.8
Vega, H.9
Kim, L.J.10
-
16
-
-
84930727023
-
-
16 Ng, B.G., Wolfe, L.A., Ichikawa, M., Markello, T., He, M., Tifft, C.J., Gahl, W.A., Freeze, H.H., Hum. Mol. Genet. 24 (2015), 3050–3057.
-
(2015)
Hum. Mol. Genet.
, vol.24
, pp. 3050-3057
-
-
Ng, B.G.1
Wolfe, L.A.2
Ichikawa, M.3
Markello, T.4
He, M.5
Tifft, C.J.6
Gahl, W.A.7
Freeze, H.H.8
-
17
-
-
84914159262
-
-
17 Adams, D.R., Yuan, H., Holyoak, T., Arajs, K.H., Hakimi, P., Markello, T.C., Wolfe, L.A., Vilboux, T., Burton, B.K., Fajardo, K.F., et al. Mol. Genet. Metab. 113 (2014), 161–170.
-
(2014)
Mol. Genet. Metab.
, vol.113
, pp. 161-170
-
-
Adams, D.R.1
Yuan, H.2
Holyoak, T.3
Arajs, K.H.4
Hakimi, P.5
Markello, T.C.6
Wolfe, L.A.7
Vilboux, T.8
Burton, B.K.9
Fajardo, K.F.10
-
18
-
-
84901362119
-
-
18 Robinson, P.N., Webber, C., PLoS Genet., 10, 2014, e1004268.
-
(2014)
PLoS Genet.
, vol.10
, pp. e1004268
-
-
Robinson, P.N.1
Webber, C.2
-
19
-
-
0004132776
-
Archibald Garrod and the Individuality of Man
-
Clarendon Press
-
19 Bearn, A.G., Archibald Garrod and the Individuality of Man. 1993, Clarendon Press.
-
(1993)
-
-
Bearn, A.G.1
-
20
-
-
0003686173
-
Genetic Medicine: A Logic of Disease
-
Johns Hopkins University Press
-
20 Childs, B., Genetic Medicine: A Logic of Disease. 1999, Johns Hopkins University Press.
-
(1999)
-
-
Childs, B.1
-
23
-
-
84886907976
-
Increasing Access to the Results of Federally Funded Scientific Research
-
Memorandum for the Heads of Executive Departments and Agencies from the Office of Science and Technology Policy, Executive Office of the President, February 22, 2013.
-
23 Holden, J.P. (2013). Increasing Access to the Results of Federally Funded Scientific Research. Memorandum for the Heads of Executive Departments and Agencies from the Office of Science and Technology Policy, Executive Office of the President, February 22, 2013. https://www.whitehouse.gov/sites/default/files/microsites/ostp/ostp_public_access_memo_2013.pdf.
-
(2013)
-
-
Holden, J.P.1
-
24
-
-
85011858221
-
-
National Institutes of Health Plan for Increasing Access to Scientific Publications and Digital Scientific Data from NIH Funded Scientific Research. February
-
24 National Institutes of Health (2015). National Institutes of Health Plan for Increasing Access to Scientific Publications and Digital Scientific Data from NIH Funded Scientific Research. February 2015. https://grants.nih.gov/grants/NIH-Public-Access-Plan.pdf.
-
(2015)
-
-
-
25
-
-
84962309239
-
CADDIE White Paper: Vision and Implementation
-
25 Ohno-Machado, L., Alter, G., Fore, I., Martone, M., Sansone, S.-A., and Xu, H. (2015). bioCADDIE White Paper: Vision and Implementation. http://dx.doi.org/10.6084/m9.figshare.1362572.
-
(2015)
-
-
Ohno-Machado, L.1
Alter, G.2
Fore, I.3
Martone, M.4
Sansone, S.-A.5
Xu, H.6
-
26
-
-
84923595326
-
Sharing Clinical Trial Data: Maximizing Benefits, Minimizing Risks
-
National Academies Press
-
26 Institute of Medicine of the National Academies. Sharing Clinical Trial Data: Maximizing Benefits, Minimizing Risks. 2015, National Academies Press.
-
(2015)
-
-
-
27
-
-
84941876387
-
-
27 Brownstein, C.A., Holm, I.A., Ramoni, R., Goldstein, D.B., Members of the Undiagnosed Diseases Network. Hum. Mutat. 36 (2015), 985–988.
-
(2015)
Hum. Mutat.
, vol.36
, pp. 985-988
-
-
Brownstein, C.A.1
Holm, I.A.2
Ramoni, R.3
Goldstein, D.B.4
-
28
-
-
84941873668
-
-
28 Philippakis, A.A., Azzariti, D.R., Beltran, S., Brookes, A.J., Brownstein, C.A., Brudno, M., Brunner, H.G., Buske, O.J., Carey, K., Doll, C., et al. Hum. Mutat. 36 (2015), 915–921.
-
(2015)
Hum. Mutat.
, vol.36
, pp. 915-921
-
-
Philippakis, A.A.1
Azzariti, D.R.2
Beltran, S.3
Brookes, A.J.4
Brownstein, C.A.5
Brudno, M.6
Brunner, H.G.7
Buske, O.J.8
Carey, K.9
Doll, C.10
-
29
-
-
84891750628
-
-
29 Tryka, K.A., Hao, L., Sturcke, A., Jin, Y., Wang, Z.Y., Ziyabari, L., Lee, M., Popova, N., Sharopova, N., Kimura, M., Feolo, M., Nucleic Acids Res. 42 (2014), D975–D979.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D975-D979
-
-
Tryka, K.A.1
Hao, L.2
Sturcke, A.3
Jin, Y.4
Wang, Z.Y.5
Ziyabari, L.6
Lee, M.7
Popova, N.8
Sharopova, N.9
Kimura, M.10
Feolo, M.11
-
31
-
-
84948823359
-
-
31 Taruscio, D., Groft, S.C., Cederroth, H., Melegh, B., Lasko, P., Kosaki, K., Baynam, G., McCray, A., Gahl, W.A., Mol. Genet. Metab. 116 (2015), 223–225.
-
(2015)
Mol. Genet. Metab.
, vol.116
, pp. 223-225
-
-
Taruscio, D.1
Groft, S.C.2
Cederroth, H.3
Melegh, B.4
Lasko, P.5
Kosaki, K.6
Baynam, G.7
McCray, A.8
Gahl, W.A.9
-
33
-
-
84948780014
-
Improving Diagnosis in Health Care
-
National Academies Press
-
33 National Academies of Sciences, Engineering, and Medicine. Improving Diagnosis in Health Care. 2015, National Academies Press.
-
(2015)
-
-
-
35
-
-
84872422585
-
-
35 Kass, N.E., Faden, R.R., Goodman, S.N., Pronovost, P., Tunis, S., Beauchamp, T.L., Hastings Cent. Rep. 43 (2013), S4–S15.
-
(2013)
Hastings Cent. Rep.
, vol.43
, pp. S4-S15
-
-
Kass, N.E.1
Faden, R.R.2
Goodman, S.N.3
Pronovost, P.4
Tunis, S.5
Beauchamp, T.L.6
-
36
-
-
84872415114
-
-
36 Faden, R.R., Kass, N.E., Goodman, S.N., Pronovost, P., Tunis, S., Beauchamp, T.L., Hastings Cent. Rep. 43 (2013), S16–S27.
-
(2013)
Hastings Cent. Rep.
, vol.43
, pp. S16-S27
-
-
Faden, R.R.1
Kass, N.E.2
Goodman, S.N.3
Pronovost, P.4
Tunis, S.5
Beauchamp, T.L.6
|