-
1
-
-
85029383716
-
-
Federal Policy for the Protection of Human Subjects (‘Common Rule’). US Government
-
US Government. (2017). Federal Policy for the Protection of Human Subjects (‘Common Rule’). US Government.
-
(2017)
-
-
-
2
-
-
84941881474
-
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK
-
Au, P. Y., You, J., Caluseriu, O., Schwartzentruber, J., Majewski, J., Bernier, F. P., … Kline, A. D. (2015). GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK. Human Mutation, 36(10), 1009–1014.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, pp. 1009-1014
-
-
Au, P.Y.1
You, J.2
Caluseriu, O.3
Schwartzentruber, J.4
Majewski, J.5
Bernier, F.P.6
Kline, A.D.7
-
3
-
-
85018752274
-
International cooperation to enable the diagnosis of all rare genetic diseases
-
Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., … Lochmuller, H. (2017). International cooperation to enable the diagnosis of all rare genetic diseases. American Journal of Human Genetics, 100(5), 695–705.
-
(2017)
American Journal of Human Genetics
, vol.100
, Issue.5
, pp. 695-705
-
-
Boycott, K.M.1
Rath, A.2
Chong, J.X.3
Hartley, T.4
Alkuraya, F.S.5
Baynam, G.6
Lochmuller, H.7
-
4
-
-
84941874149
-
PhenomeCentral: A portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
-
Buske, O. J., Girdea, M., Dumitriu, S., Gallinger, B., Hartley, T., Trang, H., … Brudno, M. (2015a). PhenomeCentral: A portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases. Human Mutation, 36(10), 931–940.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, pp. 931-940
-
-
Buske, O.J.1
Girdea, M.2
Dumitriu, S.3
Gallinger, B.4
Hartley, T.5
Trang, H.6
Brudno, M.7
-
5
-
-
84941879719
-
The Matchmaker Exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles
-
Buske, O. J., Schiettecatte, F., Hutton, B., Dumitriu, S., Misyura, A., Huang, L., … Brudno, M. (2015b). The Matchmaker Exchange API: Automating patient matching through the exchange of structured phenotypic and genotypic profiles. Human Mutation, 36(10), 922–927.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, pp. 922-927
-
-
Buske, O.J.1
Schiettecatte, F.2
Hutton, B.3
Dumitriu, S.4
Misyura, A.5
Huang, L.6
Brudno, M.7
-
6
-
-
84941879602
-
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER
-
Chatzimichali, E. A., Brent, S., Hutton, B., Perrett, D., Wright, C. F., Bevan, A. P., … Swaminathan, G. J. (2015). Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER. Human Mutation, 36(10), 941–949.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, pp. 941-949
-
-
Chatzimichali, E.A.1
Brent, S.2
Hutton, B.3
Perrett, D.4
Wright, C.F.5
Bevan, A.P.6
Swaminathan, G.J.7
-
7
-
-
84981187152
-
Gene discovery for Mendelian conditions via social networking: De novo variants in KDM1A cause developmental delay and distinctive facial features
-
Chong, J. X., Yu, J. H., Lorentzen, P., Park, K. M., Jamal, S. M., Tabor, H. K., … Bamshad, M. J. (2016). Gene discovery for Mendelian conditions via social networking: De novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine, 18(8), 788–795.
-
(2016)
Genetics in Medicine
, vol.18
, Issue.8
, pp. 788-795
-
-
Chong, J.X.1
Yu, J.H.2
Lorentzen, P.3
Park, K.M.4
Jamal, S.M.5
Tabor, H.K.6
Bamshad, M.J.7
-
8
-
-
80053366239
-
Ethical issues at the interface of clinical care and research practice in pediatric oncology: A narrative review of parents' and physicians' experiences
-
de Vries, M. C., Houtlosser, M., Wit, J. M., Engberts, D. P., Bresters, D., Kaspers, G. J., & van Leeuwen, E. (2011). Ethical issues at the interface of clinical care and research practice in pediatric oncology: A narrative review of parents' and physicians' experiences. BMC Medical Ethics, 12, 18.
-
(2011)
BMC Medical Ethics
, vol.12
, pp. 18
-
-
de Vries, M.C.1
Houtlosser, M.2
Wit, J.M.3
Engberts, D.P.4
Bresters, D.5
Kaspers, G.J.6
van Leeuwen, E.7
-
9
-
-
84958729893
-
Consent codes: Upholding standard data use conditions
-
Dyke, S. O., Philippakis, A. A., Rambla De Argila, J., Paltoo, D. N., Luetkemeier, E. S., Knoppers, B. M., … Sherry, S. T. (2016a). Consent codes: Upholding standard data use conditions. PLoS Genetics, 12(1), e1005772.
-
(2016)
PLoS Genetics
, vol.12
, Issue.1
-
-
Dyke, S.O.1
Philippakis, A.A.2
Rambla De Argila, J.3
Paltoo, D.N.4
Luetkemeier, E.S.5
Knoppers, B.M.6
Sherry, S.T.7
-
10
-
-
84995530291
-
Sharing health-related data: A privacy test?
-
Dyke, S. O. M., Dove, E. S., & Knoppers, B. M. (2016b). Sharing health-related data: A privacy test? Npj Genomic Medicine, 1, 16024.
-
(2016)
Npj Genomic Medicine
, vol.1
, pp. 16024
-
-
Dyke, S.O.M.1
Dove, E.S.2
Knoppers, B.M.3
-
11
-
-
84872415114
-
-
An ethics framework for a learning health care system A departure from traditional research ethics and clinical ethics. Hastings Center Report. Spec S16-27
-
Faden, R. R., Kass, N. E., Goodman, S. N., Pronovost, P., Tunis, S., & Beauchamp, T. L. (2013). An ethics framework for a learning health care system: A departure from traditional research ethics and clinical ethics. Hastings Center Report. Spec No: S16-27.
-
(2013)
-
-
Faden, R.R.1
Kass, N.E.2
Goodman, S.N.3
Pronovost, P.4
Tunis, S.5
Beauchamp, T.L.6
-
12
-
-
84975129608
-
GENOMICS. A federated ecosystem for sharing genomic, clinical data
-
Global Alliance for Genomics and Health. (2016). GENOMICS. A federated ecosystem for sharing genomic, clinical data. Science, 352(6291), 1278–1280.
-
(2016)
Science
, vol.352
, Issue.6291
, pp. 1278-1280
-
-
-
13
-
-
38449089111
-
The uneasy ethical and legal underpinnings of large-scale genomic biobanks
-
Greely, H. T. (2007). The uneasy ethical and legal underpinnings of large-scale genomic biobanks. Annual Review of Genomics and Human Genetics, 8(1), 343–364.
-
(2007)
Annual Review of Genomics and Human Genetics
, vol.8
, Issue.1
, pp. 343-364
-
-
Greely, H.T.1
-
14
-
-
85021202732
-
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar
-
[Epub ahead of print]
-
Harrison, S. M., Dolinsky, J. S., Knight Johnson, A. E., Pesaran, T., Azzariti, D. R., Bale, S.,.. Rehm, H. L. (2017). Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genetics in Medicine. https://doi.org/10.1038/gim.2017.14. [Epub ahead of print].
-
(2017)
Genetics in Medicine
-
-
Harrison, S.M.1
Dolinsky, J.S.2
Knight Johnson, A.E.3
Pesaran, T.4
Azzariti, D.R.5
Bale, S.6
Rehm, H.L.7
-
15
-
-
85029382048
-
-
Using ClinVar as a resource to support variant interpretation. Current Protocols in Human Genetics., Hoboken, NJ, USA, John Wiley & Sons, Inc
-
Harrison, S. M., Riggs, E. R., Maglott, D. R., Lee, J. M., Azzariti, D. R., Niehaus, A.,.. Rehm, H. L. (2001). Using ClinVar as a resource to support variant interpretation. Current Protocols in Human Genetics. Hoboken, NJ, USA: John Wiley & Sons, Inc.
-
(2001)
-
-
Harrison, S.M.1
Riggs, E.R.2
Maglott, D.R.3
Lee, J.M.4
Azzariti, D.R.5
Niehaus, A.6
Rehm, H.L.7
-
16
-
-
84940650144
-
Framework for responsible sharing of genomic and health-related data
-
Knoppers, B. M. (2014). Framework for responsible sharing of genomic and health-related data. The HUGO Journal, 8(3)
-
(2014)
The HUGO Journal
, vol.8
, Issue.3
-
-
Knoppers, B.M.1
-
17
-
-
33750388916
-
The emergence of an ethical duty to disclose genetic research results: International perspectives
-
Knoppers, B. M., Joly, Y., Simard, J., & Durocher, F. (2006). The emergence of an ethical duty to disclose genetic research results: International perspectives. European Journal of Human Genetics, 14(11), 1170–1178.
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.11
, pp. 1170-1178
-
-
Knoppers, B.M.1
Joly, Y.2
Simard, J.3
Durocher, F.4
-
18
-
-
84939572580
-
Return of genetic testing results in the era of whole-genome sequencing
-
Knoppers, B. M., Zawati, MnH., & Senecal, K. (2015). Return of genetic testing results in the era of whole-genome sequencing. Nature Reviews Genetics, 16(9), 553–559.
-
(2015)
Nature Reviews Genetics
, vol.16
, Issue.9
, pp. 553-559
-
-
Knoppers, B.M.1
Zawati, M.2
Senecal, K.3
-
19
-
-
85015982066
-
The human phenotype ontology in 2017
-
Köhler, S., Vasilevsky, N. A., Engelstad, M., Foster, E., McMurry, J., Aymé, S., … Robinson, P. N. (2017). The human phenotype ontology in 2017. Nucleic Acids Research, 45(D1), D865–D876.
-
(2017)
Nucleic Acids Research
, vol.45
, Issue.D1
, pp. D865-D876
-
-
Köhler, S.1
Vasilevsky, N.A.2
Engelstad, M.3
Foster, E.4
McMurry, J.5
Aymé, S.6
Robinson, P.N.7
-
20
-
-
84900829967
-
Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs
-
Kris, M. G., Johnson, B. E., Berry, L. D., Kwiatkowski, D. J., Iafrate, A. J., Wistuba, I. I., … Bunn, P. A. (2014). Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. JAMA, 311(19), 1998–2006.
-
(2014)
JAMA
, vol.311
, Issue.19
, pp. 1998-2006
-
-
Kris, M.G.1
Johnson, B.E.2
Berry, L.D.3
Kwiatkowski, D.J.4
Iafrate, A.J.5
Wistuba, I.I.6
Bunn, P.A.7
-
21
-
-
85029388057
-
‘IRDiRC Recognized Resources’: A new mechanism to support scientists to conduct efficient, high-quality research for rare diseases
-
Lochmuller, H., Le Cam, Y., Jonker, A. H., Lau, L. P., Baynam, G., Kaufmann, P., … Boycott, K. M. (2017). ‘IRDiRC Recognized Resources’: A new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. European Journal of Human Genetics, 100(5):695–705.
-
(2017)
European Journal of Human Genetics
, vol.100
, Issue.5
, pp. 695-705
-
-
Lochmuller, H.1
Le Cam, Y.2
Jonker, A.H.3
Lau, L.P.4
Baynam, G.5
Kaufmann, P.6
Boycott, K.M.7
-
22
-
-
84941875428
-
Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies
-
Loucks, C. M., Parboosingh, J. S., Shaheen, R., Bernier, F. P., McLeod, D. R., Seidahmed, M. Z., … Innes, A. M. (2015). Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies. Human Mutation, 36(10), 1015–1019.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, pp. 1015-1019
-
-
Loucks, C.M.1
Parboosingh, J.S.2
Shaheen, R.3
Bernier, F.P.4
McLeod, D.R.5
Seidahmed, M.Z.6
Innes, A.M.7
-
23
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
Manolio, T. A., Chisholm, R. L., Ozenberger, B., Roden, D. M., Williams, M. S., Wilson, R., … Ginsburg, G. S. (2013). Implementing genomic medicine in the clinic: The future is here. Genetics in Medicine, 15(4), 258–267.
-
(2013)
Genetics in Medicine
, vol.15
, Issue.4
, pp. 258-267
-
-
Manolio, T.A.1
Chisholm, R.L.2
Ozenberger, B.3
Roden, D.M.4
Williams, M.S.5
Wilson, R.6
Ginsburg, G.S.7
-
25
-
-
84981508206
-
Navigating the phenotype frontier: The monarch initiative
-
McMurry, J. A., Kohler, S., Washington, N. L., Balhoff, J. P., Borromeo, C., Brush, M., … Haendel, M. A. (2016). Navigating the phenotype frontier: The monarch initiative. Genetics, 203(4), 1491–1495.
-
(2016)
Genetics
, vol.203
, Issue.4
, pp. 1491-1495
-
-
McMurry, J.A.1
Kohler, S.2
Washington, N.L.3
Balhoff, J.P.4
Borromeo, C.5
Brush, M.6
Haendel, M.A.7
-
26
-
-
84941873668
-
The Matchmaker Exchange: A platform for rare disease gene discovery
-
Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., … Rehm, H. L. (2015). The Matchmaker Exchange: A platform for rare disease gene discovery. Human Mutation, 36(10), 915–921.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, 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
Rehm, H.L.7
-
27
-
-
84941877741
-
GeneMatcher: A matching tool for connecting investigators with an interest in the same gene
-
Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015). GeneMatcher: A matching tool for connecting investigators with an interest in the same gene. Human Mutation, 36(10), 928–930.
-
(2015)
Human Mutation
, vol.36
, Issue.10
, pp. 928-930
-
-
Sobreira, N.1
Schiettecatte, F.2
Valle, D.3
Hamosh, A.4
-
28
-
-
84881420673
-
Whole-genome sequencing in health care
-
van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., … de Wert, G. M. W.R. (2013). Whole-genome sequencing in health care. European Journal of Human Genetics, 21(6), 580–584.
-
(2013)
European Journal of Human Genetics
, vol.21
, Issue.6
, pp. 580-584
-
-
van El, C.G.1
Cornel, M.C.2
Borry, P.3
Hastings, R.J.4
Fellmann, F.5
Hodgson, S.V.6
de Wert, G.M.W.R.7
|