-
1
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
T.A. Manolio, R.L. Chisholm, B. Ozenberger, D.M. Roden, M.S. Williams, R. Wilson, D. Bick, E.P. Bottinger, M.H. Brilliant, C. Eng, and et al. Implementing genomic medicine in the clinic: the future is here Genet. Med. 15 2013 258 267
-
(2013)
Genet. Med.
, vol.15
, 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
Bick, D.7
Bottinger, E.P.8
Brilliant, M.H.9
Eng, C.10
-
2
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Y. Yang, D.M. Muzny, F. Xia, Z. Niu, R. Person, Y. Ding, P. Ward, A. Braxton, M. Wang, C. Buhay, and et al. Molecular findings among patients referred for clinical whole-exome sequencing JAMA 312 2014 1870 1879
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
Niu, Z.4
Person, R.5
Ding, Y.6
Ward, P.7
Braxton, A.8
Wang, M.9
Buhay, C.10
-
3
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
L.G. Biesecker, and R.C. Green Diagnostic clinical genome and exome sequencing N. Engl. J. Med. 370 2014 2418 2425
-
(2014)
N. Engl. J. Med.
, vol.370
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
4
-
-
84971511548
-
-
National Institutes of Health Department of Health and Human Services
-
National Institutes of Health (2011). Clinical Sequencing Exploratory Research (U01). Funding Opportunity Guide, Department of Health and Human Services, http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-10-017.html.
-
(2011)
Clinical Sequencing Exploratory Research (U01). Funding Opportunity Guide
-
-
-
5
-
-
84971505856
-
-
National Institutes of Health (2012). Clinical Sequencing Exploratory Research (UM1). Funding Opportunity Guide, Department of Health and Human Services
-
National Institutes of Health (2012). Clinical Sequencing Exploratory Research (UM1). Funding Opportunity Guide, Department of Health and Human Services, http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-12-009.html.
-
-
-
-
7
-
-
84971566995
-
-
National Institutes of Health (2011). Ethical, legal, and social implications of returning research results to genomic research participants (R21). Funding Opportunity Guide, Department of Health and Human Services
-
National Institutes of Health (2011). Ethical, legal, and social implications of returning research results to genomic research participants (R21). Funding Opportunity Guide, Department of Health and Human Services, http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-11-004.html.
-
-
-
-
8
-
-
84971505875
-
-
National Institutes of Health (2012). Clinical Sequencing Exploratory Research coordinating center (U01). Funding Opportunity Guide, Department of Health and Human Services
-
National Institutes of Health (2012). Clinical Sequencing Exploratory Research coordinating center (U01). Funding Opportunity Guide, Department of Health and Human Services, http://grants.nih.gov/grants/guide/rfa-files/RFA-HG-12-008.html.
-
-
-
-
9
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
-
L.M. Amendola, M.O. Dorschner, P.D. Robertson, J.S. Salama, R. Hart, B.H. Shirts, M.L. Murray, M.J. Tokita, C.J. Gallego, D.S. Kim, and et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification Genome Res. 25 2015 305 315
-
(2015)
Genome Res.
, vol.25
, pp. 305-315
-
-
Amendola, L.M.1
Dorschner, M.O.2
Robertson, P.D.3
Salama, J.S.4
Hart, R.5
Shirts, B.H.6
Murray, M.L.7
Tokita, M.J.8
Gallego, C.J.9
Kim, D.S.10
-
10
-
-
84887474444
-
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
-
J.S. Berg, L.M. Amendola, C. Eng, E. Van Allen, S.W. Gray, N. Wagle, H.L. Rehm, E.T. DeChene, M.C. Dulik, F.M. Hisama, et al. Members of the CSER Actionability and Return of Results Working Group Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium Genet. Med. 15 2013 860 867
-
(2013)
Genet. Med.
, vol.15
, pp. 860-867
-
-
Berg, J.S.1
Amendola, L.M.2
Eng, C.3
Van Allen, E.4
Gray, S.W.5
Wagle, N.6
Rehm, H.L.7
DeChene, E.T.8
Dulik, M.C.9
Hisama, F.M.10
-
11
-
-
84902271056
-
Return of genomic results to research participants: The floor, the ceiling, and the choices in between
-
CSER Act-ROR Working Group
-
G.P. Jarvik, L.M. Amendola, J.S. Berg, K. Brothers, E.W. Clayton, W. Chung, B.J. Evans, J.P. Evans, S.M. Fullerton, C.J. Gallego, et al. eMERGE Act-ROR Committee and CERC Committee CSER Act-ROR Working Group Return of genomic results to research participants: the floor, the ceiling, and the choices in between Am. J. Hum. Genet. 94 2014 818 826
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 818-826
-
-
Jarvik, G.P.1
Amendola, L.M.2
Berg, J.S.3
Brothers, K.4
Clayton, E.W.5
Chung, W.6
Evans, B.J.7
Evans, J.P.8
Fullerton, S.M.9
Gallego, C.J.10
-
12
-
-
84952940623
-
CSER and eMERGE: Current and potential state of the display of genetic information in the electronic health record
-
B.H. Shirts, J.S. Salama, S.J. Aronson, W.K. Chung, S.W. Gray, L.A. Hindorff, G.P. Jarvik, S.E. Plon, E.M. Stoffel, P.Z. Tarczy-Hornoch, and et al. CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record J. Am. Med. Inform. Assoc. 22 2015 1231 1242
-
(2015)
J. Am. Med. Inform. Assoc.
, vol.22
, pp. 1231-1242
-
-
Shirts, B.H.1
Salama, J.S.2
Aronson, S.J.3
Chung, W.K.4
Gray, S.W.5
Hindorff, L.A.6
Jarvik, G.P.7
Plon, S.E.8
Stoffel, E.M.9
Tarczy-Hornoch, P.Z.10
-
13
-
-
84885143916
-
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record
-
P. Tarczy-Hornoch, L. Amendola, S.J. Aronson, L. Garraway, S. Gray, R.W. Grundmeier, L.A. Hindorff, G. Jarvik, D. Karavite, M. Lebo, and et al. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record Genet. Med. 15 2013 824 832
-
(2013)
Genet. Med.
, vol.15
, pp. 824-832
-
-
Tarczy-Hornoch, P.1
Amendola, L.2
Aronson, S.J.3
Garraway, L.4
Gray, S.5
Grundmeier, R.W.6
Hindorff, L.A.7
Jarvik, G.8
Karavite, D.9
Lebo, M.10
-
14
-
-
84955653666
-
"Not tied up neatly with a bow": Professionals' challenging cases in informed consent for genomic sequencing
-
A.N. Tomlinson, D. Skinner, D.L. Perry, S.R. Scollon, M.I. Roche, and B.A. Bernhardt "Not tied up neatly with a bow": professionals' challenging cases in informed consent for genomic sequencing J. Genet. Couns. 25 2016 62 72
-
(2016)
J. Genet. Couns.
, vol.25
, pp. 62-72
-
-
Tomlinson, A.N.1
Skinner, D.2
Perry, D.L.3
Scollon, S.R.4
Roche, M.I.5
Bernhardt, B.A.6
-
15
-
-
84947023341
-
Experiences with obtaining informed consent for genomic sequencing
-
B.A. Bernhardt, M.I. Roche, D.L. Perry, S.R. Scollon, A.N. Tomlinson, and D. Skinner Experiences with obtaining informed consent for genomic sequencing Am. J. Med. Genet. A. 167A 2015 2635 2646
-
(2015)
Am. J. Med. Genet. A.
, vol.167 A
, pp. 2635-2646
-
-
Bernhardt, B.A.1
Roche, M.I.2
Perry, D.L.3
Scollon, S.R.4
Tomlinson, A.N.5
Skinner, D.6
-
16
-
-
84930695858
-
Illustrative case studies in the return of exome and genome sequencing results
-
L.M. Amendola, D. Lautenbach, S. Scollon, B. Bernhardt, S. Biswas, K. East, J. Everett, M.J. Gilmore, P. Himes, V.M. Raymond, et al. CSER Genetic Counseling Working Group Illustrative case studies in the return of exome and genome sequencing results Per. Med. 12 2015 283 295
-
(2015)
Per. Med.
, vol.12
, pp. 283-295
-
-
Amendola, L.M.1
Lautenbach, D.2
Scollon, S.3
Bernhardt, B.4
Biswas, S.5
East, K.6
Everett, J.7
Gilmore, M.J.8
Himes, P.9
Raymond, V.M.10
-
17
-
-
84910031008
-
The challenge of informed consent and return of results in translational genomics: Empirical analysis and recommendations
-
G.E. Henderson, S.M. Wolf, K.J. Kuczynski, S. Joffe, R.R. Sharp, D.W. Parsons, B.M. Knoppers, J.H. Yu, and P.S. Appelbaum The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations J. Law Med. Ethics 42 2014 344 355
-
(2014)
J. Law Med. Ethics
, vol.42
, pp. 344-355
-
-
Henderson, G.E.1
Wolf, S.M.2
Kuczynski, K.J.3
Joffe, S.4
Sharp, R.R.5
Parsons, D.W.6
Knoppers, B.M.7
Yu, J.H.8
Appelbaum, P.S.9
-
18
-
-
84904063146
-
Models of consent to return of incidental findings in genomic research
-
P.S. Appelbaum, E. Parens, C.R. Waldman, R. Klitzman, A. Fyer, J. Martinez, W.N. Price 2nd, and W.K. Chung Models of consent to return of incidental findings in genomic research Hastings Cent. Rep. 44 2014 22 32
-
(2014)
Hastings Cent. Rep.
, vol.44
, pp. 22-32
-
-
Appelbaum, P.S.1
Parens, E.2
Waldman, C.R.3
Klitzman, R.4
Fyer, A.5
Martinez, J.6
Price, W.N.7
Chung, W.K.8
-
19
-
-
84903989678
-
Have we asked too much of consent?
-
B.A. Koenig Have we asked too much of consent? Hastings Cent. Rep. 44 2014 33 34
-
(2014)
Hastings Cent. Rep.
, vol.44
, pp. 33-34
-
-
Koenig, B.A.1
-
20
-
-
84991486782
-
Social and behavioral research in genomic sequencing: Approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group
-
S.W. Gray, Y. Martins, L.Z. Feuerman, B.A. Bernhardt, B.B. Biesecker, K.D. Christensen, S. Joffe, C. Rini, D. Veenstra, A.L. McGuire CSER Consortium Outcomes and Measures Working Group Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group Genet. Med. 16 2014 727 735
-
(2014)
Genet. Med.
, vol.16
, pp. 727-735
-
-
Gray, S.W.1
Martins, Y.2
Feuerman, L.Z.3
Bernhardt, B.A.4
Biesecker, B.B.5
Christensen, K.D.6
Joffe, S.7
Rini, C.8
Veenstra, D.9
McGuire, A.L.10
-
21
-
-
84897723575
-
Addressing the ethical challenges in genetic testing and sequencing of children
-
E.W. Clayton, L.B. McCullough, L.G. Biesecker, S. Joffe, L.F. Ross, S.M. Wolf Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group Addressing the ethical challenges in genetic testing and sequencing of children Am. J. Bioeth. 14 2014 3 9
-
(2014)
Am. J. Bioeth.
, vol.14
, pp. 3-9
-
-
Clayton, E.W.1
McCullough, L.B.2
Biesecker, L.G.3
Joffe, S.4
Ross, L.F.5
Wolf, S.M.6
-
22
-
-
84913582119
-
Practical guidance on informed consent for pediatric participants in a biorepository
-
K.B. Brothers, J.A. Lynch, S.A. Aufox, J.J. Connolly, B.D. Gelb, I.A. Holm, S.C. Sanderson, J.B. McCormick, J.L. Williams, W.A. Wolf, and et al. Practical guidance on informed consent for pediatric participants in a biorepository Mayo Clin. Proc. 89 2014 1471 1480
-
(2014)
Mayo Clin. Proc.
, vol.89
, pp. 1471-1480
-
-
Brothers, K.B.1
Lynch, J.A.2
Aufox, S.A.3
Connolly, J.J.4
Gelb, B.D.5
Holm, I.A.6
Sanderson, S.C.7
McCormick, J.B.8
Williams, J.L.9
Wolf, W.A.10
-
23
-
-
84942850684
-
Professionally responsible disclosure of genomic sequencing results in pediatric practice
-
L.B. McCullough, K.B. Brothers, W.K. Chung, S. Joffe, B.A. Koenig, B. Wilfond, J.H. Yu Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group Professionally responsible disclosure of genomic sequencing results in pediatric practice Pediatrics 136 2015 e974 e982
-
(2015)
Pediatrics
, vol.136
, pp. e974-e982
-
-
McCullough, L.B.1
Brothers, K.B.2
Chung, W.K.3
Joffe, S.4
Koenig, B.A.5
Wilfond, B.6
Yu, J.H.7
-
24
-
-
84905815773
-
Clinical tumor sequencing: An incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings
-
D.W. Parsons, A. Roy, S.E. Plon, S. Roychowdhury, and A.M. Chinnaiyan Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings J. Clin. Oncol. 32 2014 2203 2205
-
(2014)
J. Clin. Oncol.
, vol.32
, pp. 2203-2205
-
-
Parsons, D.W.1
Roy, A.2
Plon, S.E.3
Roychowdhury, S.4
Chinnaiyan, A.M.5
-
25
-
-
84964855475
-
Germline findings in tumor-only sequencing: Points to consider for clinicians and laboratories
-
V.M. Raymond, S.W. Gray, S. Roychowdhury, S. Joffe, A.M. Chinnaiyan, D.W. Parsons, S.E. Plon Clinical Sequencing Exploratory Research Consortium Tumor Working Group Germline findings in tumor-only sequencing: points to consider for clinicians and laboratories J. Natl. Cancer Inst. 108 2016 djv351
-
(2016)
J. Natl. Cancer Inst.
, vol.108
, pp. djv351
-
-
Raymond, V.M.1
Gray, S.W.2
Roychowdhury, S.3
Joffe, S.4
Chinnaiyan, A.M.5
Parsons, D.W.6
Plon, S.E.7
-
26
-
-
84923928478
-
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
-
H.M. McLaughlin, O. Ceyhan-Birsoy, K.D. Christensen, I.S. Kohane, J. Krier, W.J. Lane, D. Lautenbach, M.S. Lebo, K. Machini, C.A. MacRae, et al. MedSeq Project A systematic approach to the reporting of medically relevant findings from whole genome sequencing BMC Med. Genet. 15 2014 134
-
(2014)
BMC Med. Genet.
, vol.15
, pp. 134
-
-
McLaughlin, H.M.1
Ceyhan-Birsoy, O.2
Christensen, K.D.3
Kohane, I.S.4
Krier, J.5
Lane, W.J.6
Lautenbach, D.7
Lebo, M.S.8
Machini, K.9
MacRae, C.A.10
-
27
-
-
84898783004
-
Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline
-
I.H. Lee, K. Lee, M. Hsing, Y. Choe, J.H. Park, S.H. Kim, J.M. Bohn, M.B. Neu, K.B. Hwang, R.C. Green, and et al. Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline Hum. Mutat. 35 2014 537 547
-
(2014)
Hum. Mutat.
, vol.35
, pp. 537-547
-
-
Lee, I.H.1
Lee, K.2
Hsing, M.3
Choe, Y.4
Park, J.H.5
Kim, S.H.6
Bohn, J.M.7
Neu, M.B.8
Hwang, K.B.9
Green, R.C.10
-
28
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, et al. ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet. Med. 17 2015 405 424
-
(2015)
Genet. Med.
, vol.17
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
-
29
-
-
84966639523
-
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium
-
this issue
-
L.M. Amendola, G.P. Jarvik, M.C. Leo, H.L. McLaughlin, Y. Akkari, M.D. Amaral, J.S. Berg, S. Biswas, K.M. Bowling, L.K. Conlin, and et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research consortium Am. J. Hum. Genet. 98 2016 1067 1076 this issue
-
(2016)
Am. J. Hum. Genet.
, vol.98
, pp. 1067-1076
-
-
Amendola, L.M.1
Jarvik, G.P.2
Leo, M.C.3
McLaughlin, H.L.4
Akkari, Y.5
Amaral, M.D.6
Berg, J.S.7
Biswas, S.8
Bowling, K.M.9
Conlin, L.K.10
-
30
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
R.C. Green, J.S. Berg, W.W. Grody, S.S. Kalia, B.R. Korf, C.L. Martin, A.L. McGuire, R.L. Nussbaum, J.M. O'Daniel, K.E. Ormond, et al. American College of Medical Genetics and Genomics ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genet. Med. 15 2013 565 574
-
(2013)
Genet. Med.
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
-
31
-
-
85010703579
-
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children with Solid Tumors
-
Published online January 28, 2016
-
D.W. Parsons, A. Roy, Y. Yang, T. Wang, S. Scollon, K. Bergstrom, R.A. Kerstein, S. Gutierrez, A.K. Petersen, A. Bavle, and et al. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors JAMA Oncol. 2016 10.1001/jamaoncol.2015.5699 Published online January 28, 2016
-
(2016)
JAMA Oncol.
-
-
Parsons, D.W.1
Roy, A.2
Yang, Y.3
Wang, T.4
Scollon, S.5
Bergstrom, K.6
Kerstein, R.A.7
Gutierrez, S.8
Petersen, A.K.9
Bavle, A.10
-
32
-
-
84940769044
-
Integrative clinical sequencing in the management of refractory or relapsed cancer in youth
-
R.J. Mody, Y.M. Wu, R.J. Lonigro, X. Cao, S. Roychowdhury, P. Vats, K.M. Frank, J.R. Prensner, I. Asangani, N. Palanisamy, and et al. Integrative clinical sequencing in the management of refractory or relapsed cancer in youth JAMA 314 2015 913 925
-
(2015)
JAMA
, vol.314
, pp. 913-925
-
-
Mody, R.J.1
Wu, Y.M.2
Lonigro, R.J.3
Cao, X.4
Roychowdhury, S.5
Vats, P.6
Frank, K.M.7
Prensner, J.R.8
Asangani, I.9
Palanisamy, N.10
-
33
-
-
84941002648
-
The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing
-
M. Cieslik, R. Chugh, Y.M. Wu, M. Wu, C. Brennan, R. Lonigro, F. Su, R. Wang, J. Siddiqui, R. Mehra, and et al. The use of exome capture RNA-seq for highly degraded RNA with application to clinical cancer sequencing Genome Res. 25 2015 1372 1381
-
(2015)
Genome Res.
, vol.25
, pp. 1372-1381
-
-
Cieslik, M.1
Chugh, R.2
Wu, Y.M.3
Wu, M.4
Brennan, C.5
Lonigro, R.6
Su, F.7
Wang, R.8
Siddiqui, J.9
Mehra, R.10
-
34
-
-
84904542499
-
Comparative effectiveness of next generation genomic sequencing for disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes
-
C.J. Gallego, C.S. Bennette, P. Heagerty, B. Comstock, M. Horike-Pyne, F. Hisama, L.M. Amendola, R.L. Bennett, M.O. Dorschner, P. Tarczy-Hornoch, and et al. Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes Contemp. Clin. Trials 39 2014 1 8
-
(2014)
Contemp. Clin. Trials
, vol.39
, pp. 1-8
-
-
Gallego, C.J.1
Bennette, C.S.2
Heagerty, P.3
Comstock, B.4
Horike-Pyne, M.5
Hisama, F.6
Amendola, L.M.7
Bennett, R.L.8
Dorschner, M.O.9
Tarczy-Hornoch, P.10
-
35
-
-
84979860465
-
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death
-
M.H. Li, J.L. Abrudan, M.C. Dulik, A. Sasson, J. Brunton, V. Jayaraman, N. Dugan, D. Haley, R. Rajagopalan, S. Biswas, and et al. Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death Hum. Genomics 9 2015 15
-
(2015)
Hum. Genomics
, vol.9
, pp. 15
-
-
Li, M.H.1
Abrudan, J.L.2
Dulik, M.C.3
Sasson, A.4
Brunton, J.5
Jayaraman, V.6
Dugan, N.7
Haley, D.8
Rajagopalan, R.9
Biswas, S.10
-
36
-
-
84904445954
-
Clinical phenotype-based gene prioritization: An initial study using semantic similarity and the human phenotype ontology
-
A.J. Masino, E.T. Dechene, M.C. Dulik, A. Wilkens, N.B. Spinner, I.D. Krantz, J.W. Pennington, P.N. Robinson, and P.S. White Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology BMC Bioinformatics 15 2014 248
-
(2014)
BMC Bioinformatics
, vol.15
, pp. 248
-
-
Masino, A.J.1
Dechene, E.T.2
Dulik, M.C.3
Wilkens, A.4
Spinner, N.B.5
Krantz, I.D.6
Pennington, J.W.7
Robinson, P.N.8
White, P.S.9
-
37
-
-
84937521694
-
High diagnostic yield of whole exome sequencing in participants with retinal dystrophies in a clinical ophthalmology setting
-
K. Lee, J.S. Berg, L. Milko, K. Crooks, M. Lu, C. Bizon, P. Owen, K.C. Wilhelmsen, K.E. Weck, J.P. Evans, and S. Garg High diagnostic yield of whole exome sequencing in participants with retinal dystrophies in a clinical ophthalmology setting Am. J. Ophthalmol. 160 2015 354 363.e9
-
(2015)
Am. J. Ophthalmol.
, vol.160
, pp. 354-363e9
-
-
Lee, K.1
Berg, J.S.2
Milko, L.3
Crooks, K.4
Lu, M.5
Bizon, C.6
Owen, P.7
Wilhelmsen, K.C.8
Weck, K.E.9
Evans, J.P.10
Garg, S.11
-
38
-
-
84898883459
-
The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine
-
J.L. Vassy, D.M. Lautenbach, H.M. McLaughlin, S.-W. Kong, K.D. Christensen, J. Krier, I.S. Kohane, L.Z. Feuerman, J. Blumenthal-Barby, J.S. Roberts, et al. MedSeq Project The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine Trials 15 2014 85 97
-
(2014)
Trials
, vol.15
, pp. 85-97
-
-
Vassy, J.L.1
Lautenbach, D.M.2
McLaughlin, H.M.3
Kong, S.-W.4
Christensen, K.D.5
Krier, J.6
Kohane, I.S.7
Feuerman, L.Z.8
Blumenthal-Barby, J.9
Roberts, J.S.10
-
39
-
-
79959276553
-
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
-
J.S. Berg, M.J. Khoury, and J.P. Evans Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time Genet. Med. 13 2011 499 504
-
(2011)
Genet. Med.
, vol.13
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
40
-
-
84867724867
-
An informatics approach to analyzing the incidentalome
-
J.S. Berg, M. Adams, N. Nassar, C. Bizon, K. Lee, C.P. Schmitt, K.C. Wilhelmsen, and J.P. Evans An informatics approach to analyzing the incidentalome Genet. Med. 15 2013 36 44
-
(2013)
Genet. Med.
, vol.15
, pp. 36-44
-
-
Berg, J.S.1
Adams, M.2
Nassar, N.3
Bizon, C.4
Lee, K.5
Schmitt, C.P.6
Wilhelmsen, K.C.7
Evans, J.P.8
-
41
-
-
84930526399
-
ClinGen - The Clinical Genome Resource
-
H.L. Rehm, J.S. Berg, L.D. Brooks, C.D. Bustamante, J.P. Evans, M.J. Landrum, D.H. Ledbetter, D.R. Maglott, C.L. Martin, R.L. Nussbaum, et al. ClinGen ClinGen - the Clinical Genome Resource N. Engl. J. Med. 372 2015 2235 2242
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 2235-2242
-
-
Rehm, H.L.1
Berg, J.S.2
Brooks, L.D.3
Bustamante, C.D.4
Evans, J.P.5
Landrum, M.J.6
Ledbetter, D.H.7
Maglott, D.R.8
Martin, C.L.9
Nussbaum, R.L.10
-
42
-
-
84883856709
-
Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies
-
K.A. Goddard, E.P. Whitlock, J.S. Berg, M.S. Williams, E.M. Webber, J.A. Webster, J.S. Lin, K.A. Schrader, D. Campos-Outcalt, K. Offit, and et al. Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies Genet. Med. 15 2013 721 728
-
(2013)
Genet. Med.
, vol.15
, pp. 721-728
-
-
Goddard, K.A.1
Whitlock, E.P.2
Berg, J.S.3
Williams, M.S.4
Webber, E.M.5
Webster, J.A.6
Lin, J.S.7
Schrader, K.A.8
Campos-Outcalt, D.9
Offit, K.10
-
43
-
-
84880423883
-
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
-
R.C. Green, J.R. Lupski, and L.G. Biesecker Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional JAMA 310 2013 365 366
-
(2013)
JAMA
, vol.310
, pp. 365-366
-
-
Green, R.C.1
Lupski, J.R.2
Biesecker, L.G.3
-
44
-
-
84887439425
-
Recommendations for returning genomic incidental findings? We need to talk!
-
W. Burke, A.H. Antommaria, R. Bennett, J. Botkin, E.W. Clayton, G.E. Henderson, I.A. Holm, G.P. Jarvik, M.J. Khoury, B.M. Knoppers, and et al. Recommendations for returning genomic incidental findings? We need to talk! Genet. Med. 15 2013 854 859
-
(2013)
Genet. Med.
, vol.15
, pp. 854-859
-
-
Burke, W.1
Antommaria, A.H.2
Bennett, R.3
Botkin, J.4
Clayton, E.W.5
Henderson, G.E.6
Holm, I.A.7
Jarvik, G.P.8
Khoury, M.J.9
Knoppers, B.M.10
-
45
-
-
84884506830
-
Interpreting secondary cardiac disease variants in an exome cohort
-
D. Ng, J.J. Johnston, J.K. Teer, L.N. Singh, L.C. Peller, J.S. Wynter, K.L. Lewis, D.N. Cooper, P.D. Stenson, J.C. Mullikin, L.G. Biesecker NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program Interpreting secondary cardiac disease variants in an exome cohort Circ Cardiovasc Genet 6 2013 337 346
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 337-346
-
-
Ng, D.1
Johnston, J.J.2
Teer, J.K.3
Singh, L.N.4
Peller, L.C.5
Wynter, J.S.6
Lewis, K.L.7
Cooper, D.N.8
Stenson, P.D.9
Mullikin, J.C.10
Biesecker, L.G.11
-
46
-
-
84888267800
-
Using exome data to identify malignant hyperthermia susceptibility mutations
-
S.G. Gonsalves, D. Ng, J.J. Johnston, J.K. Teer, P.D. Stenson, D.N. Cooper, J.C. Mullikin, L.G. Biesecker NISC Comparative Sequencing Program Using exome data to identify malignant hyperthermia susceptibility mutations Anesthesiology 119 2013 1043 1053
-
(2013)
Anesthesiology
, vol.119
, pp. 1043-1053
-
-
Gonsalves, S.G.1
Ng, D.2
Johnston, J.J.3
Teer, J.K.4
Stenson, P.D.5
Cooper, D.N.6
Mullikin, J.C.7
Biesecker, L.G.8
-
47
-
-
84855425880
-
Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes
-
M.G. Rees, D. Ng, S. Ruppert, C. Turner, N.L. Beer, A.J. Swift, M.A. Morken, J.E. Below, I. Blech, J.C. Mullikin, et al. NISC Comparative Sequencing Program Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes J. Clin. Invest. 122 2012 205 217
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 205-217
-
-
Rees, M.G.1
Ng, D.2
Ruppert, S.3
Turner, C.4
Beer, N.L.5
Swift, A.J.6
Morken, M.A.7
Below, J.E.8
Blech, I.9
Mullikin, J.C.10
-
48
-
-
84893123051
-
Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability
-
E. Posokhova, D. Ng, A. Opel, I. Masuho, A. Tinker, L.G. Biesecker, K. Wickman, and K.A. Martemyanov Essential role of the m2R-RGS6-IKACh pathway in controlling intrinsic heart rate variability PLoS ONE 8 2013 e76973
-
(2013)
PLoS ONE
, vol.8
, pp. e76973
-
-
Posokhova, E.1
Ng, D.2
Opel, A.3
Masuho, I.4
Tinker, A.5
Biesecker, L.G.6
Wickman, K.7
Martemyanov, K.A.8
-
49
-
-
80052269204
-
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
-
J.L. Sloan, J.J. Johnston, I. Manoli, R.J. Chandler, C. Krause, N. Carrillo-Carrasco, S.D. Chandrasekaran, J.R. Sysol, K. O'Brien, N.S. Hauser, et al. NIH Intramural Sequencing Center Group Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria Nat. Genet. 43 2011 883 886
-
(2011)
Nat. Genet.
, vol.43
, pp. 883-886
-
-
Sloan, J.L.1
Johnston, J.J.2
Manoli, I.3
Chandler, R.J.4
Krause, C.5
Carrillo-Carrasco, N.6
Chandrasekaran, S.D.7
Sysol, J.R.8
O'Brien, K.9
Hauser, N.S.10
-
50
-
-
84984914666
-
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations
-
J.J. Johnston, K.L. Lewis, D. Ng, L.N. Singh, J. Wynter, C. Brewer, B.P. Brooks, I. Brownell, F. Candotti, S.G. Gonsalves, and et al. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations Am. J. Hum. Genet. 96 2015 913 925
-
(2015)
Am. J. Hum. Genet.
, vol.96
, pp. 913-925
-
-
Johnston, J.J.1
Lewis, K.L.2
Ng, D.3
Singh, L.N.4
Wynter, J.5
Brewer, C.6
Brooks, B.P.7
Brownell, I.8
Candotti, F.9
Gonsalves, S.G.10
-
51
-
-
84924276557
-
A one-page summary report of genome sequencing for the healthy adult
-
J.L. Vassy, H.M. McLaughlin, C.A. MacRae, C.E. Seidman, D. Lautenbach, J.B. Krier, W.J. Lane, I.S. Kohane, M.F. Murray, A.L. McGuire, and et al. A one-page summary report of genome sequencing for the healthy adult Public Health Genomics 18 2015 123 129
-
(2015)
Public Health Genomics
, vol.18
, pp. 123-129
-
-
Vassy, J.L.1
McLaughlin, H.M.2
MacRae, C.A.3
Seidman, C.E.4
Lautenbach, D.5
Krier, J.B.6
Lane, W.J.7
Kohane, I.S.8
Murray, M.F.9
McGuire, A.L.10
-
52
-
-
84941654036
-
Summarizing polygenic risks for complex diseases in a clinical whole-genome report
-
S.W. Kong, I.H. Lee, I. Leshchiner, J. Krier, P. Kraft, H.L. Rehm, R.C. Green, I.S. Kohane, C.A. MacRae MedSeq Project Summarizing polygenic risks for complex diseases in a clinical whole-genome report Genet. Med. 17 2015 536 544
-
(2015)
Genet. Med.
, vol.17
, pp. 536-544
-
-
Kong, S.W.1
Lee, I.H.2
Leshchiner, I.3
Krier, J.4
Kraft, P.5
Rehm, H.L.6
Green, R.C.7
Kohane, I.S.8
MacRae, C.A.9
-
53
-
-
84960171632
-
Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: Proof of principle
-
W.J. Lane, C.M. Westhoff, J.M. Uy, M. Aguad, R. Smeland-Wagman, R.M. Kaufman, H.L. Rehm, R.C. Green, L.E. Silberstein MedSeq Project Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle Transfusion 56 2016 743 754
-
(2016)
Transfusion
, vol.56
, pp. 743-754
-
-
Lane, W.J.1
Westhoff, C.M.2
Uy, J.M.3
Aguad, M.4
Smeland-Wagman, R.5
Kaufman, R.M.6
Rehm, H.L.7
Green, R.C.8
Silberstein, L.E.9
-
54
-
-
84936143365
-
Are physicians prepared for whole genome sequencing? a qualitative analysis
-
K.D. Christensen, J.L. Vassy, L. Jamal, L.S. Lehmann, M.J. Slashinski, D.L. Perry, J.O. Robinson, J. Blumenthal-Barby, L.Z. Feuerman, M.F. Murray, et al. MedSeq Project Team Are physicians prepared for whole genome sequencing? a qualitative analysis Clin. Genet. 89 2016 228 234
-
(2016)
Clin. Genet.
, vol.89
, pp. 228-234
-
-
Christensen, K.D.1
Vassy, J.L.2
Jamal, L.3
Lehmann, L.S.4
Slashinski, M.J.5
Perry, D.L.6
Robinson, J.O.7
Blumenthal-Barby, J.8
Feuerman, L.Z.9
Murray, M.F.10
-
55
-
-
84920774885
-
'Someday it will be the norm': Physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project
-
J.L. Vassy, K.D. Christensen, M.J. Slashinski, D.M. Lautenbach, S. Raghavan, J.O. Robinson, J. Blumenthal-Barby, L.Z. Feuerman, L.S. Lehmann, M.F. Murray, and et al. 'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project Per. Med. 12 2015 23 32
-
(2015)
Per. Med.
, vol.12
, pp. 23-32
-
-
Vassy, J.L.1
Christensen, K.D.2
Slashinski, M.J.3
Lautenbach, D.M.4
Raghavan, S.5
Robinson, J.O.6
Blumenthal-Barby, J.7
Feuerman, L.Z.8
Lehmann, L.S.9
Murray, M.F.10
-
56
-
-
84929649852
-
How to know when physicians are ready for genomic medicine
-
J.L. Vassy, B.R. Korf, and R.C. Green How to know when physicians are ready for genomic medicine Sci. Transl. Med. 7 2015 287fs19
-
(2015)
Sci. Transl. Med.
, vol.7
, pp. 287fs19
-
-
Vassy, J.L.1
Korf, B.R.2
Green, R.C.3
-
57
-
-
84885692200
-
Genomic medicine in primary care: Barriers and assets
-
J.L. Vassy, R.C. Green, and L.S. Lehmann Genomic medicine in primary care: barriers and assets Postgrad. Med. J. 89 2013 615 616
-
(2013)
Postgrad. Med. J.
, vol.89
, pp. 615-616
-
-
Vassy, J.L.1
Green, R.C.2
Lehmann, L.S.3
-
58
-
-
84955672149
-
"Is it worth knowing?" Focus group participants' perceived utility of genomic preconception carrier screening
-
J.L. Schneider, K.A. Goddard, J. Davis, B. Wilfond, T.L. Kauffman, J.A. Reiss, M. Gilmore, P. Himes, F.L. Lynch, M.C. Leo, and C. McMullen "Is it worth knowing?" Focus group participants' perceived utility of genomic preconception carrier screening J. Genet. Couns. 25 2016 135 145
-
(2016)
J. Genet. Couns.
, vol.25
, pp. 135-145
-
-
Schneider, J.L.1
Goddard, K.A.2
Davis, J.3
Wilfond, B.4
Kauffman, T.L.5
Reiss, J.A.6
Gilmore, M.7
Himes, P.8
Lynch, F.L.9
Leo, M.C.10
McMullen, C.11
-
59
-
-
84983158411
-
Is whole-exome sequencing an ethically disruptive technology? Perspectives of pediatric oncologists and parents of pediatric patients with solid tumors
-
L.B. McCullough, M.J. Slashinski, A.L. McGuire, R.L. Street Jr.; C.M. Eng, R.A. Gibbs, D.W. Parsons, and S.E. Plon Is whole-exome sequencing an ethically disruptive technology? Perspectives of pediatric oncologists and parents of pediatric patients with solid tumors Pediatr. Blood Cancer 63 2016 511 515
-
(2016)
Pediatr. Blood Cancer
, vol.63
, pp. 511-515
-
-
McCullough, L.B.1
Slashinski, M.J.2
McGuire, A.L.3
Street, R.L.4
Eng, C.M.5
Gibbs, R.A.6
Parsons, D.W.7
Plon, S.E.8
-
60
-
-
84925519324
-
How can psychological science inform research about genetic counseling for clinical genomic sequencing?
-
C.M. Khan, C. Rini, B.A. Bernhardt, J.S. Roberts, K.D. Christensen, J.P. Evans, K.B. Brothers, M.I. Roche, J.S. Berg, and G.E. Henderson How can psychological science inform research about genetic counseling for clinical genomic sequencing? J. Genet. Couns. 24 2015 193 204
-
(2015)
J. Genet. Couns.
, vol.24
, pp. 193-204
-
-
Khan, C.M.1
Rini, C.2
Bernhardt, B.A.3
Roberts, J.S.4
Christensen, K.D.5
Evans, J.P.6
Brothers, K.B.7
Roche, M.I.8
Berg, J.S.9
Henderson, G.E.10
-
61
-
-
84937630319
-
Information avoidance tendencies, threat management resources, and interest in genetic sequencing feedback
-
J.M. Taber, W.M. Klein, R.A. Ferrer, K.L. Lewis, P.R. Harris, J.A. Shepperd, and L.G. Biesecker Information avoidance tendencies, threat management resources, and interest in genetic sequencing feedback Ann. Behav. Med. 49 2015 616 621
-
(2015)
Ann. Behav. Med.
, vol.49
, pp. 616-621
-
-
Taber, J.M.1
Klein, W.M.2
Ferrer, R.A.3
Lewis, K.L.4
Harris, P.R.5
Shepperd, J.A.6
Biesecker, L.G.7
-
62
-
-
84927523029
-
How do research participants perceive "uncertainty" in genome sequencing?
-
B.B. Biesecker, W. Klein, K.L. Lewis, T.C. Fisher, M.F. Wright, L.G. Biesecker, and P.K. Han How do research participants perceive "uncertainty" in genome sequencing? Genet. Med. 16 2014 977 980
-
(2014)
Genet. Med.
, vol.16
, pp. 977-980
-
-
Biesecker, B.B.1
Klein, W.2
Lewis, K.L.3
Fisher, T.C.4
Wright, M.F.5
Biesecker, L.G.6
Han, P.K.7
-
63
-
-
84954360345
-
The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information
-
R.A. Ferrer, J.M. Taber, W.M. Klein, P.R. Harris, K.L. Lewis, and L.G. Biesecker The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information Cogn. Emotion 29 2015 1456 1465
-
(2015)
Cogn. Emotion
, vol.29
, pp. 1456-1465
-
-
Ferrer, R.A.1
Taber, J.M.2
Klein, W.M.3
Harris, P.R.4
Lewis, K.L.5
Biesecker, L.G.6
-
64
-
-
84902119396
-
Preferences for results delivery from exome sequencing/genome sequencing
-
M.F. Wright, K.L. Lewis, T.C. Fisher, G.W. Hooker, T.E. Emanuel, L.G. Biesecker, and B.B. Biesecker Preferences for results delivery from exome sequencing/genome sequencing Genet. Med. 16 2014 442 447
-
(2014)
Genet. Med.
, vol.16
, pp. 442-447
-
-
Wright, M.F.1
Lewis, K.L.2
Fisher, T.C.3
Hooker, G.W.4
Emanuel, T.E.5
Biesecker, L.G.6
Biesecker, B.B.7
-
65
-
-
84879601453
-
Return of incidental findings in genomic medicine: Measuring what patients value - Development of an instrument to measure preferences for information from next-generation testing (IMPRINT)
-
C.S. Bennette, S.B. Trinidad, S.M. Fullerton, D. Patrick, L. Amendola, W. Burke, F.M. Hisama, G.P. Jarvik, D.A. Regier, and D.L. Veenstra Return of incidental findings in genomic medicine: measuring what patients value - development of an instrument to measure preferences for information from next-generation testing (IMPRINT) Genet. Med. 15 2013 873 881
-
(2013)
Genet. Med.
, vol.15
, pp. 873-881
-
-
Bennette, C.S.1
Trinidad, S.B.2
Fullerton, S.M.3
Patrick, D.4
Amendola, L.5
Burke, W.6
Hisama, F.M.7
Jarvik, G.P.8
Regier, D.A.9
Veenstra, D.L.10
-
66
-
-
84874108148
-
Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study
-
F.M. Facio, H. Eidem, T. Fisher, S. Brooks, A. Linn, K.A. Kaphingst, L.G. Biesecker, and B.B. Biesecker Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study Eur. J. Hum. Genet. 21 2013 261 265
-
(2013)
Eur. J. Hum. Genet.
, vol.21
, pp. 261-265
-
-
Facio, F.M.1
Eidem, H.2
Fisher, T.3
Brooks, S.4
Linn, A.5
Kaphingst, K.A.6
Biesecker, L.G.7
Biesecker, B.B.8
-
67
-
-
84954446949
-
Patients' perceived utility of whole-genome sequencing for their healthcare: Findings from the MedSeq project
-
P.J. Lupo, J.O. Robinson, P.M. Diamond, L. Jamal, H.E. Danysh, J. Blumenthal-Barby, L.S. Lehmann, J.L. Vassy, K.D. Christensen, R.C. Green, A.L. McGuire MedSeq Project team Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project Per. Med. 13 2016 13 20
-
(2016)
Per. Med.
, vol.13
, pp. 13-20
-
-
Lupo, P.J.1
Robinson, J.O.2
Diamond, P.M.3
Jamal, L.4
Danysh, H.E.5
Blumenthal-Barby, J.6
Lehmann, L.S.7
Vassy, J.L.8
Christensen, K.D.9
Green, R.C.10
McGuire, A.L.11
-
68
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
R.C. Green, J.S. Berg, G.T. Berry, L.G. Biesecker, D.P. Dimmock, J.P. Evans, W.W. Grody, M.R. Hegde, S. Kalia, B.R. Korf, and et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing Genet. Med. 14 2012 405 410
-
(2012)
Genet. Med.
, vol.14
, pp. 405-410
-
-
Green, R.C.1
Berg, J.S.2
Berry, G.T.3
Biesecker, L.G.4
Dimmock, D.P.5
Evans, J.P.6
Grody, W.W.7
Hegde, M.R.8
Kalia, S.9
Korf, B.R.10
-
69
-
-
84887447556
-
Researchers' views on return of incidental genomic research results: Qualitative and quantitative findings
-
R. Klitzman, P.S. Appelbaum, A. Fyer, J. Martinez, B. Buquez, J. Wynn, C.R. Waldman, J. Phelan, E. Parens, and W.K. Chung Researchers' views on return of incidental genomic research results: qualitative and quantitative findings Genet. Med. 15 2013 888 895
-
(2013)
Genet. Med.
, vol.15
, pp. 888-895
-
-
Klitzman, R.1
Appelbaum, P.S.2
Fyer, A.3
Martinez, J.4
Buquez, B.5
Wynn, J.6
Waldman, C.R.7
Phelan, J.8
Parens, E.9
Chung, W.K.10
-
70
-
-
84904034852
-
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing
-
J.H. Yu, T.M. Harrell, S.M. Jamal, H.K. Tabor, and M.J. Bamshad Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing Am. J. Hum. Genet. 95 2014 77 84
-
(2014)
Am. J. Hum. Genet.
, vol.95
, pp. 77-84
-
-
Yu, J.H.1
Harrell, T.M.2
Jamal, S.M.3
Tabor, H.K.4
Bamshad, M.J.5
-
71
-
-
84896319204
-
Return of results: Ethical and legal distinctions between research and clinical care
-
W. Burke, B.J. Evans, and G.P. Jarvik Return of results: ethical and legal distinctions between research and clinical care Am. J. Med. Genet. C. Semin. Med. Genet. 166C 2014 105 111
-
(2014)
Am. J. Med. Genet. C. Semin. Med. Genet.
, vol.166 C
, pp. 105-111
-
-
Burke, W.1
Evans, B.J.2
Jarvik, G.P.3
-
72
-
-
84899981161
-
Informed consent for return of incidental findings in genomic research
-
P.S. Appelbaum, C.R. Waldman, A. Fyer, R. Klitzman, E. Parens, J. Martinez, W.N. Price 2nd, and W.K. Chung Informed consent for return of incidental findings in genomic research Genet. Med. 16 2014 367 373
-
(2014)
Genet. Med.
, vol.16
, pp. 367-373
-
-
Appelbaum, P.S.1
Waldman, C.R.2
Fyer, A.3
Klitzman, R.4
Parens, E.5
Martinez, J.6
Price, W.N.7
Chung, W.K.8
-
73
-
-
84898441369
-
Processes and factors involved in decisions regarding return of incidental genomic findings in research
-
R. Klitzman, B. Buquez, P.S. Appelbaum, A. Fyer, and W.K. Chung Processes and factors involved in decisions regarding return of incidental genomic findings in research Genet. Med. 16 2014 311 317
-
(2014)
Genet. Med.
, vol.16
, pp. 311-317
-
-
Klitzman, R.1
Buquez, B.2
Appelbaum, P.S.3
Fyer, A.4
Chung, W.K.5
-
74
-
-
84880421555
-
Return of secondary genomic findings vs patient autonomy: Implications for medical care
-
R. Klitzman, P.S. Appelbaum, and W. Chung Return of secondary genomic findings vs patient autonomy: implications for medical care JAMA 310 2013 369 370
-
(2013)
JAMA
, vol.310
, pp. 369-370
-
-
Klitzman, R.1
Appelbaum, P.S.2
Chung, W.3
-
75
-
-
84880255470
-
Incidental findings in the era of whole genome sequencing?
-
E. Parens, P. Appelbaum, and W. Chung Incidental findings in the era of whole genome sequencing? Hastings Cent. Rep. 43 2013 16 19
-
(2013)
Hastings Cent. Rep.
, vol.43
, pp. 16-19
-
-
Parens, E.1
Appelbaum, P.2
Chung, W.3
-
76
-
-
84902596431
-
A framework for analyzing the ethics of disclosing genetic research findings
-
L. Eckstein, J.R. Garrett, and B.E. Berkman A framework for analyzing the ethics of disclosing genetic research findings J. Law Med. Ethics 42 2014 190 207
-
(2014)
J. Law Med. Ethics
, vol.42
, pp. 190-207
-
-
Eckstein, L.1
Garrett, J.R.2
Berkman, B.E.3
-
77
-
-
84944686109
-
Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide
-
S.M. Wolf, W. Burke, and B.A. Koenig Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide J. Law Med. Ethics 43 2015 486 501
-
(2015)
J. Law Med. Ethics
, vol.43
, pp. 486-501
-
-
Wolf, S.M.1
Burke, W.2
Koenig, B.A.3
-
78
-
-
84867637228
-
Effects of informed consent for individual genome sequencing on relevant knowledge
-
K.A. Kaphingst, F.M. Facio, M.R. Cheng, S. Brooks, H. Eidem, A. Linn, B.B. Biesecker, and L.G. Biesecker Effects of informed consent for individual genome sequencing on relevant knowledge Clin. Genet. 82 2012 408 415
-
(2012)
Clin. Genet.
, vol.82
, pp. 408-415
-
-
Kaphingst, K.A.1
Facio, F.M.2
Cheng, M.R.3
Brooks, S.4
Eidem, H.5
Linn, A.6
Biesecker, B.B.7
Biesecker, L.G.8
-
79
-
-
84908114179
-
Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients
-
S. Scollon, K. Bergstrom, R.A. Kerstein, T. Wang, S.G. Hilsenbeck, U. Ramamurthy, R.A. Gibbs, C.M. Eng, M.M. Chintagumpala, S.L. Berg, and et al. Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients Genome Med. 6 2014 69
-
(2014)
Genome Med.
, vol.6
, pp. 69
-
-
Scollon, S.1
Bergstrom, K.2
Kerstein, R.A.3
Wang, T.4
Hilsenbeck, S.G.5
Ramamurthy, U.6
Gibbs, R.A.7
Eng, C.M.8
Chintagumpala, M.M.9
Berg, S.L.10
-
80
-
-
84978663467
-
Participants and Study Decliners' Perspectives about the Risks of Participating in a Clinical Trial of Whole Genome Sequencing
-
J.O. Robinson, T.M. Carroll, L.Z. Feuerman, D.L. Perry, L. Hoffman-Andrews, R.C. Walsh, K.D. Christensen, R.C. Green, A.L. McGuire MedSeq Project Team Participants and Study Decliners' Perspectives About the Risks of Participating in a Clinical Trial of Whole Genome Sequencing J. Empir. Res. Hum. Res. Ethics 11 2016 21 30
-
(2016)
J. Empir. Res. Hum. Res. Ethics
, vol.11
, pp. 21-30
-
-
Robinson, J.O.1
Carroll, T.M.2
Feuerman, L.Z.3
Perry, D.L.4
Hoffman-Andrews, L.5
Walsh, R.C.6
Christensen, K.D.7
Green, R.C.8
McGuire, A.L.9
-
81
-
-
84903689318
-
Genetic counselors and the future of clinical genomics
-
B. Bernhardt Genetic counselors and the future of clinical genomics Genome Med. 6 2014 49
-
(2014)
Genome Med.
, vol.6
, pp. 49
-
-
Bernhardt, B.1
-
82
-
-
84904266148
-
Traditional roles in a non-traditional setting: Genetic counseling in precision oncology
-
J.N. Everett, S.L. Gustafson, and V.M. Raymond Traditional roles in a non-traditional setting: genetic counseling in precision oncology J. Genet. Couns. 23 2014 655 660
-
(2014)
J. Genet. Couns.
, vol.23
, pp. 655-660
-
-
Everett, J.N.1
Gustafson, S.L.2
Raymond, V.M.3
-
83
-
-
84904261899
-
Stakeholders' opinions on the implementation of pediatric whole exome sequencing: Implications for informed consent
-
B.L. Levenseller, D.J. Soucier, V.A. Miller, D. Harris, L. Conway, and B.A. Bernhardt Stakeholders' opinions on the implementation of pediatric whole exome sequencing: implications for informed consent J. Genet. Couns. 23 2014 552 565
-
(2014)
J. Genet. Couns.
, vol.23
, pp. 552-565
-
-
Levenseller, B.L.1
Soucier, D.J.2
Miller, V.A.3
Harris, D.4
Conway, L.5
Bernhardt, B.A.6
-
84
-
-
84878354128
-
Point-counterpoint. Ethics and genomic incidental findings
-
A.L. McGuire, S. Joffe, B.A. Koenig, B.B. Biesecker, L.B. McCullough, J.S. Blumenthal-Barby, T. Caulfield, S.F. Terry, and R.C. Green Point-counterpoint. Ethics and genomic incidental findings Science 340 2013 1047 1048
-
(2013)
Science
, vol.340
, pp. 1047-1048
-
-
McGuire, A.L.1
Joffe, S.2
Koenig, B.A.3
Biesecker, B.B.4
McCullough, L.B.5
Blumenthal-Barby, J.S.6
Caulfield, T.7
Terry, S.F.8
Green, R.C.9
-
85
-
-
84878364688
-
Point-counterpoint. Patient autonomy and incidental findings in clinical genomics
-
S.M. Wolf, G.J. Annas, and S. Elias Point-counterpoint. Patient autonomy and incidental findings in clinical genomics Science 340 2013 1049 1050
-
(2013)
Science
, vol.340
, pp. 1049-1050
-
-
Wolf, S.M.1
Annas, G.J.2
Elias, S.3
-
86
-
-
84944684271
-
Disclosing secondary findings from pediatric sequencing to families: Considering the "benefit to families"
-
B.S. Wilfond, C.V. Fernandez, and R.C. Green Disclosing secondary findings from pediatric sequencing to families: considering the "benefit to families" J. Law Med. Ethics 43 2015 552 558
-
(2015)
J. Law Med. Ethics
, vol.43
, pp. 552-558
-
-
Wilfond, B.S.1
Fernandez, C.V.2
Green, R.C.3
-
87
-
-
84900007016
-
Parents' preferences for return of results in pediatric genomic research
-
S.I. Ziniel, S.K. Savage, N. Huntington, J. Amatruda, R.C. Green, E.R. Weitzman, P. Taylor, and I.A. Holm Parents' preferences for return of results in pediatric genomic research Public Health Genomics 17 2014 105 114
-
(2014)
Public Health Genomics
, vol.17
, pp. 105-114
-
-
Ziniel, S.I.1
Savage, S.K.2
Huntington, N.3
Amatruda, J.4
Green, R.C.5
Weitzman, E.R.6
Taylor, P.7
Holm, I.A.8
-
88
-
-
84890044517
-
Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing
-
B.J. Evans Minimizing liability risks under the ACMG recommendations for reporting incidental findings in clinical exome and genome sequencing Genet. Med. 15 2013 915 920
-
(2013)
Genet. Med.
, vol.15
, pp. 915-920
-
-
Evans, B.J.1
-
89
-
-
84878119323
-
Managing incidental genomic findings: Legal obligations of clinicians
-
E.W. Clayton, S. Haga, P. Kuszler, E. Bane, K. Shutske, and W. Burke Managing incidental genomic findings: legal obligations of clinicians Genet. Med. 15 2013 624 629
-
(2013)
Genet. Med.
, vol.15
, pp. 624-629
-
-
Clayton, E.W.1
Haga, S.2
Kuszler, P.3
Bane, E.4
Shutske, K.5
Burke, W.6
-
90
-
-
84899794846
-
Can i be sued for that? Liability risk and the disclosure of clinically significant genetic research findings
-
A.L. McGuire, B.M. Knoppers, M.H. Zawati, and E.W. Clayton Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings Genome Res. 24 2014 719 723
-
(2014)
Genome Res.
, vol.24
, pp. 719-723
-
-
McGuire, A.L.1
Knoppers, B.M.2
Zawati, M.H.3
Clayton, E.W.4
-
91
-
-
84944686329
-
INTRODUCTION: Return of Research Results: What about the Family?
-
S.M. Wolf INTRODUCTION: Return of Research Results: What About the Family? J. Law Med. Ethics 43 2015 437 439
-
(2015)
J. Law Med. Ethics
, vol.43
, pp. 437-439
-
-
Wolf, S.M.1
-
92
-
-
84885127320
-
Ethical, legal, and social implications of incorporating genomic information into electronic health records
-
R. Hazin, K.B. Brothers, B.A. Malin, B.A. Koenig, S.C. Sanderson, M.A. Rothstein, M.S. Williams, E.W. Clayton, and I.J. Kullo Ethical, legal, and social implications of incorporating genomic information into electronic health records Genet. Med. 15 2013 810 816
-
(2013)
Genet. Med.
, vol.15
, pp. 810-816
-
-
Hazin, R.1
Brothers, K.B.2
Malin, B.A.3
Koenig, B.A.4
Sanderson, S.C.5
Rothstein, M.A.6
Williams, M.S.7
Clayton, E.W.8
Kullo, I.J.9
-
93
-
-
84921853397
-
GINA, genetic discrimination, and genomic medicine
-
R.C. Green, D. Lautenbach, and A.L. McGuire GINA, genetic discrimination, and genomic medicine N. Engl. J. Med. 372 2015 397 399
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 397-399
-
-
Green, R.C.1
Lautenbach, D.2
McGuire, A.L.3
-
94
-
-
84907868356
-
Economic regulation of next-generation sequencing
-
B.J. Evans Economic regulation of next-generation sequencing J. Law Med. Ethics 42 Suppl 1 2014 51 66
-
(2014)
J. Law Med. Ethics
, vol.42
, pp. 51-66
-
-
Evans, B.J.1
-
95
-
-
84908879578
-
Regulatory changes raise troubling questions for genomic testing
-
B.J. Evans, M.O. Dorschner, W. Burke, and G.P. Jarvik Regulatory changes raise troubling questions for genomic testing Genet. Med. 16 2014 799 803
-
(2014)
Genet. Med.
, vol.16
, pp. 799-803
-
-
Evans, B.J.1
Dorschner, M.O.2
Burke, W.3
Jarvik, G.P.4
-
96
-
-
84944678228
-
International policies on sharing genomic research results with relatives: Approaches to balancing privacy with access
-
R. Branum, and S.M. Wolf International policies on sharing genomic research results with relatives: approaches to balancing privacy with access J. Law Med. Ethics 43 2015 576 593
-
(2015)
J. Law Med. Ethics
, vol.43
, pp. 576-593
-
-
Branum, R.1
Wolf, S.M.2
-
97
-
-
84941652552
-
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing
-
C.S. Bennette, C.J. Gallego, W. Burke, G.P. Jarvik, and D.L. Veenstra The cost-effectiveness of returning incidental findings from next-generation genomic sequencing Genet. Med. 17 2015 587 595
-
(2015)
Genet. Med.
, vol.17
, pp. 587-595
-
-
Bennette, C.S.1
Gallego, C.J.2
Burke, W.3
Jarvik, G.P.4
Veenstra, D.L.5
-
99
-
-
84924923139
-
Why information alone is not enough: Behavioral economics and the future of genomic medicine
-
J.S. Blumenthal-Barby, A.L. McGuire, and P.A. Ubel Why information alone is not enough: behavioral economics and the future of genomic medicine Ann. Intern. Med. 161 2014 605 606
-
(2014)
Ann. Intern. Med.
, vol.161
, pp. 605-606
-
-
Blumenthal-Barby, J.S.1
McGuire, A.L.2
Ubel, P.A.3
-
100
-
-
84939171494
-
How behavioral economics can help to avoid 'The last mile problem' in whole genome sequencing
-
J.S. Blumenthal-Barby, A.L. McGuire, R.C. Green, and P.A. Ubel How behavioral economics can help to avoid 'The last mile problem' in whole genome sequencing Genome Med. 7 2015 3
-
(2015)
Genome Med.
, vol.7
, pp. 3
-
-
Blumenthal-Barby, J.S.1
McGuire, A.L.2
Green, R.C.3
Ubel, P.A.4
-
101
-
-
79955035027
-
Electronic medical records for genetic research: Results of the eMERGE consortium
-
A.N. Kho, J.A. Pacheco, P.L. Peissig, L. Rasmussen, K.M. Newton, N. Weston, P.K. Crane, J. Pathak, C.G. Chute, S.J. Bielinski, and et al. Electronic medical records for genetic research: results of the eMERGE consortium Sci. Transl. Med. 3 2011 79re1
-
(2011)
Sci. Transl. Med.
, vol.3
, pp. 79re1
-
-
Kho, A.N.1
Pacheco, J.A.2
Peissig, P.L.3
Rasmussen, L.4
Newton, K.M.5
Weston, N.6
Crane, P.K.7
Pathak, J.8
Chute, C.G.9
Bielinski, S.J.10
-
102
-
-
79251581866
-
The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies
-
C.A. McCarty, R.L. Chisholm, C.G. Chute, I.J. Kullo, G.P. Jarvik, E.B. Larson, R. Li, D.R. Masys, M.D. Ritchie, D.M. Roden, et al. eMERGE Team The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies BMC Med. Genomics 4 2011 13
-
(2011)
BMC Med. Genomics
, vol.4
, pp. 13
-
-
McCarty, C.A.1
Chisholm, R.L.2
Chute, C.G.3
Kullo, I.J.4
Jarvik, G.P.5
Larson, E.B.6
Li, R.7
Masys, D.R.8
Ritchie, M.D.9
Roden, D.M.10
-
103
-
-
84880059657
-
The Electronic Medical Records and Genomics (eMERGE) Network: Past, present, and future
-
O. Gottesman, H. Kuivaniemi, G. Tromp, W.A. Faucett, R. Li, T.A. Manolio, S.C. Sanderson, J. Kannry, R. Zinberg, M.A. Basford, et al. eMERGE Network The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future Genet. Med. 15 2013 761 771
-
(2013)
Genet. Med.
, vol.15
, pp. 761-771
-
-
Gottesman, O.1
Kuivaniemi, H.2
Tromp, G.3
Faucett, W.A.4
Li, R.5
Manolio, T.A.6
Sanderson, S.C.7
Kannry, J.8
Zinberg, R.9
Basford, M.A.10
-
104
-
-
84971569092
-
-
National Cancer Institute (2015). Pediatric MATCH
-
National Cancer Institute (2015). Pediatric MATCH, http://www.cancer.gov/about-cancer/treatment/clinical-trials/nci-supported/pediatric-match.
-
-
-
-
105
-
-
84959048335
-
Toward clinical genomics in everyday medicine: Perspectives and recommendations
-
S.K. Delaney, M.L. Hultner, H.J. Jacob, D.H. Ledbetter, J.J. McCarthy, M. Ball, K.B. Beckman, J.W. Belmont, C.S. Bloss, M.F. Christman, and et al. Toward clinical genomics in everyday medicine: perspectives and recommendations Expert Rev. Mol. Diagn. 16 2016 521 532
-
(2016)
Expert Rev. Mol. Diagn.
, vol.16
, pp. 521-532
-
-
Delaney, S.K.1
Hultner, M.L.2
Jacob, H.J.3
Ledbetter, D.H.4
McCarthy, J.J.5
Ball, M.6
Beckman, K.B.7
Belmont, J.W.8
Bloss, C.S.9
Christman, M.F.10
-
106
-
-
84883897500
-
ACMG clinical laboratory standards for next-generation sequencing
-
H.L. Rehm, S.J. Bale, P. Bayrak-Toydemir, J.S. Berg, K.K. Brown, J.L. Deignan, M.J. Friez, B.H. Funke, M.R. Hegde, E. Lyon Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee ACMG clinical laboratory standards for next-generation sequencing Genet. Med. 15 2013 733 747
-
(2013)
Genet. Med.
, vol.15
, pp. 733-747
-
-
Rehm, H.L.1
Bale, S.J.2
Bayrak-Toydemir, P.3
Berg, J.S.4
Brown, K.K.5
Deignan, J.L.6
Friez, M.J.7
Funke, B.H.8
Hegde, M.R.9
Lyon, E.10
-
107
-
-
84881347061
-
Incidental findings in clinical genomics: A clarification
-
American College of Medical Genetics and Genomics Incidental findings in clinical genomics: a clarification Genet. Med. 15 2013 664 666
-
(2013)
Genet. Med.
, vol.15
, pp. 664-666
-
-
-
108
-
-
84857187982
-
VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
-
J.K. Teer, E.D. Green, J.C. Mullikin, and L.G. Biesecker VarSifter: visualizing and analyzing exome-scale sequence variation data on a desktop computer Bioinformatics 28 2012 599 600
-
(2012)
Bioinformatics
, vol.28
, pp. 599-600
-
-
Teer, J.K.1
Green, E.D.2
Mullikin, J.C.3
Biesecker, L.G.4
-
109
-
-
84923165887
-
Genetic testing and FDA regulation: Overregulation threatens the emergence of genomic medicine
-
J.P. Evans, and M.S. Watson Genetic testing and FDA regulation: overregulation threatens the emergence of genomic medicine JAMA 313 2015 669 670
-
(2015)
JAMA
, vol.313
, pp. 669-670
-
-
Evans, J.P.1
Watson, M.S.2
-
110
-
-
84930532210
-
The FDA and genomic tests - Getting regulation right
-
B.J. Evans, W. Burke, and G.P. Jarvik The FDA and genomic tests - getting regulation right N. Engl. J. Med. 372 2015 2258 2264
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 2258-2264
-
-
Evans, B.J.1
Burke, W.2
Jarvik, G.P.3
|