-
1
-
-
70350219257
-
The ethical use of existing samples for genome research
-
Bathe, O. F. & McGuire, A. L. (2009). The ethical use of existing samples for genome research. Genetics in Medicine 11, 712-715.
-
(2009)
Genetics in Medicine
, vol.11
, pp. 712-715
-
-
Bathe, O.F.1
McGuire, A.L.2
-
2
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
-
Berg, J. S., Khoury, M. J. & Evans, J. P. (2011). Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine 13, 499-504.
-
(2011)
Genetics in Medicine
, vol.13
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
3
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., del Rosario, M., Hoischen, A., Scheffer, H., de Vries, B. B. A., Brunner, H. G., Veltman, J. A. & Vissers, L. E. L. M. (2012). Diagnostic exome sequencing in persons with severe intellectual disability. New England Journal of Medicine 367, 1921-1929.
-
(2012)
New England Journal of Medicine
, vol.367
, pp. 1921-1929
-
-
De Ligt, J.1
Willemsen, M.H.2
Van Bon, B.W.M.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
Vulto-Van Silfhout, A.T.7
Koolen, D.A.8
De Vries, P.9
Gilissen, C.10
Del Rosario, M.11
Hoischen, A.12
Scheffer, H.13
De Vries, B.B.A.14
Brunner, H.G.15
Veltman, J.A.16
Vissers, L.E.L.M.17
-
4
-
-
78649474742
-
Exome sequencing identifies ACAD9 mutations as a cause of complex i deficiency
-
Haack, T. B., Danhauser, K., Haberberger, B., Hoser, J., Strecker, V., Boehm, D., Uziel, G., Lamantea, E., Invernizzi, F., Poulton, J., Rolinski, B., Iuso, A., Biskup, S., Schmidt, T., Mewes, H. -W., Wittig, I., Meitinger, T., Zeviani, M. & Prokisch, H. (2010). Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nature Genetics 42, 1131-1134.
-
(2010)
Nature Genetics
, vol.42
, pp. 1131-1134
-
-
Haack, T.B.1
Danhauser, K.2
Haberberger, B.3
Hoser, J.4
Strecker, V.5
Boehm, D.6
Uziel, G.7
Lamantea, E.8
Invernizzi, F.9
Poulton, J.10
Rolinski, B.11
Iuso, A.12
Biskup, S.13
Schmidt, T.14
Mewes, H.-W.15
Wittig, I.16
Meitinger, T.17
Zeviani, M.18
Prokisch, H.19
-
5
-
-
84867855897
-
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
-
Haack, T. B., Makowski, C., Yao, Y., Graf, E., Hempel, M., Wieland, T., Tauer, U., Ahting, U., Mayr, J. A., Freisinger, P., Yoshimatsu, H., Inui, K., Strom, T. M., Meitinger, T., Yonezawa, A. & Prokisch, H. (2012). Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. Journal of Inherited Metabolic Disease 35, 943-948.
-
(2012)
Journal of Inherited Metabolic Disease
, vol.35
, pp. 943-948
-
-
Haack, T.B.1
Makowski, C.2
Yao, Y.3
Graf, E.4
Hempel, M.5
Wieland, T.6
Tauer, U.7
Ahting, U.8
Mayr, J.A.9
Freisinger, P.10
Yoshimatsu, H.11
Inui, K.12
Strom, T.M.13
Meitinger, T.14
Yonezawa, A.15
Prokisch, H.16
-
6
-
-
84866369095
-
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
-
Johnson, J. O., Gibbs, J. R., Megarbane, A., Urtizberea, J. A., Hernandez, D. G., Foley, A. R., Arepalli, S., Pandraud, A., Simón- Sánchez, J., Clayton, P., Reilly, M. M., Muntoni, F., Abramzon, Y., Houlden, H. & Singleton, A. B. (2012). Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain Journal of Neurology 135(Pt 9), 2875-2882.
-
(2012)
Brain Journal of Neurology
, vol.135
, Issue.9
, pp. 2875-2882
-
-
Johnson, J.O.1
Gibbs, J.R.2
Megarbane, A.3
Urtizberea, J.A.4
Hernandez, D.G.5
Foley, A.R.6
Arepalli, S.7
Pandraud, A.8
Simón-Sánchez, J.9
Clayton, P.10
Reilly, M.M.11
Muntoni, F.12
Abramzon, Y.13
Houlden, H.14
Singleton, A.B.15
-
7
-
-
73349110071
-
Exome sequencing identifies the cause of a Mendelian disorder
-
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., Shendure, J. & Bamshad, M. J. (2009). Exome sequencing identifies the cause of a Mendelian disorder. Nature Genetics 42, 30-35.
-
(2009)
Nature Genetics
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
Huff, C.D.7
Shannon, P.T.8
Jabs, E.W.9
Nickerson, D.A.10
Shendure, J.11
Bamshad, M.J.12
-
8
-
-
0037151917
-
No consent should be needed for using leftover body material for scientific purposes
-
Savulescu, J. (2002). No consent should be needed for using leftover body material for scientific purposes. British Medical Journal 325, 648-51.
-
(2002)
British Medical Journal
, vol.325
, pp. 648-651
-
-
Savulescu, J.1
-
9
-
-
0037151930
-
Informed consent for genetic research on blood stored for more than a decade: A population based study
-
Stegmayr, B., Asplund, K. (2002). Informed consent for genetic research on blood stored for more than a decade: a population based study. British Medical Journal 325, 634-5.
-
(2002)
British Medical Journal
, vol.325
, pp. 634-635
-
-
Stegmayr, B.1
Asplund, K.2
-
10
-
-
0037151917
-
No consent should be needed for using leftover body material for scientific purposes
-
Van Diest, P. J. (2002). No consent should be needed for using leftover body material for scientific purposes. British Medical Journal 325, 648-51.
-
(2002)
British Medical Journal
, vol.325
, pp. 648-651
-
-
Van Diest, P.J.1
-
11
-
-
64049115093
-
Obtaining 'fresh' consent for genetic research with biological samples archived 10 years ago
-
Vermeulen, E., Schmidt, M. K., Aaronson, N. K., Kuenen, M., van Leeuwen, F. E. (2009). Obtaining 'fresh' consent for genetic research with biological samples archived 10 years ago. European Journal of Cancer 45, 1168-74.
-
(2009)
European Journal of Cancer
, vol.45
, pp. 1168-1174
-
-
Vermeulen, E.1
Schmidt, M.K.2
Aaronson, N.K.3
Kuenen, M.4
Van Leeuwen, F.E.5
-
12
-
-
84859595957
-
The past, present, and future of the debate over return of research results and incidental findings
-
Wolf, S. M. (2012). The past, present, and future of the debate over return of research results and incidental findings. Genetics in Medicine 14, 355-357.
-
(2012)
Genetics in Medicine
, vol.14
, pp. 355-357
-
-
Wolf, S.M.1
-
13
-
-
84859566974
-
Managing incidental findings and research results in genomic research involving biobanks and archived data sets
-
Wolf, S. M., Crock, B. N., Van Ness, B., Lawrenz, F., Kahn, J. P., Beskow, L. M., Cho, M. K., Christman, M. F., Green, R. C., Hall, R., Illes, J., Keane, M., Knoppers, B. M., Koenig, B. A., Kohane, I. S., Leroy, B., Maschke, K. J., McGeveran, W., Ossorio, P., Parker, L. S., Petersen, G. M., Richardson, H. S., Scott, J. A., Terry, S. F., Wilfond, B. S. & Wolf, W. A. (2012). Managing incidental findings and research results in genomic research involving biobanks and archived data sets. Genetics in Medicine 14, 361-384.
-
(2012)
Genetics in Medicine
, vol.14
, pp. 361-384
-
-
Wolf, S.M.1
Crock, B.N.2
Van Ness, B.3
Lawrenz, F.4
Kahn, J.P.5
Beskow, L.M.6
Cho, M.K.7
Christman, M.F.8
Green, R.C.9
Hall, R.10
Illes, J.11
Keane, M.12
Knoppers, B.M.13
Koenig, B.A.14
Kohane, I.S.15
Leroy, B.16
Maschke, K.J.17
McGeveran, W.18
Ossorio, P.19
Parker, L.S.20
Petersen, G.M.21
Richardson, H.S.22
Scott, J.A.23
Terry, S.F.24
Wilfond, B.S.25
Wolf, W.A.26
more..
-
14
-
-
84863980515
-
Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1
-
Zhou, J., Tawk, M., Tiziano, F. D., Veillet, J., Bayes, M., Nolent, F., Garcia, V., Servidei, S., Bertini, E., Castro-Giner, F., Renda, Y., Carpentier, S., Andrieu-Abadie, N., Gut, I., Levade, T., Topaloglu, H. & Melki, J. (2012). Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. American Journal of Human Genetics 91, 5-14.
-
(2012)
American Journal of Human Genetics
, vol.91
, pp. 5-14
-
-
Zhou, J.1
Tawk, M.2
Tiziano, F.D.3
Veillet, J.4
Bayes, M.5
Nolent, F.6
Garcia, V.7
Servidei, S.8
Bertini, E.9
Castro-Giner, F.10
Renda, Y.11
Carpentier, S.12
Andrieu-Abadie, N.13
Gut, I.14
Levade, T.15
Topaloglu, H.16
Melki, J.17
|