-
1
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis, G.R, Auton, A, Brooks, L.D, DePristo, M.A, Durbin, R.M, Handsaker, R.E, Kang, H.M, Marth, G.T, and McVean, G.A. 2012. An integrated map of genetic variation from 1,092 human genomes. Nature 491:56-65. doi: 10.1038/nature11632
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
Kang, H.M.7
Marth, G.T.8
McVean, G.A.9
-
2
-
-
84920528362
-
ACMG policy statement: Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
-
ACMG Board of Directors. 2015. ACMG policy statement: Updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet. Med. 17:68-69. doi: 10.1038/gim.2014.151
-
(2015)
Genet. Med.
, vol.17
, pp. 68-69
-
-
-
3
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I, Schmidt, S, Peshkin, L, Ramensky, V, Gerasimova, A, Bork, P, Kondrashov, A, and Sunyaev, S. 2010. A method and server for predicting damaging missense mutations. Nat. Methods 7:248-249. doi: 10.1038/nmeth0410-248
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.7
Sunyaev, S.8
-
4
-
-
78649694091
-
Incidental thyroid nodules on chest CT: Review of the literature and management suggestions
-
Ahmed, S, Horton, K.M, Jeffrey, R.B. Jr, Sheth, S, and Fishman, E.K. 2010. Incidental thyroid nodules on chest CT: Review of the literature and management suggestions. AJR Am. J. Roentgenol. 195:1066-1071. doi: 10.2214/AJR.10.4506
-
(2010)
AJR Am. J. Roentgenol.
, vol.195
, pp. 1066-1071
-
-
Ahmed, S.1
Horton, K.M.2
Jeffrey, R.B.3
Sheth, S.4
Fishman, E.K.5
-
5
-
-
79951571411
-
Imaging of incidental findings on thoracic computed tomography
-
Alpert, J.B. and Naidich, D.P. 2011. Imaging of incidental findings on thoracic computed tomography. Radiol. Clin. North Am. 49:267-289. doi: 10.1016/j.rcl.2010.10.005
-
(2011)
Radiol. Clin. North Am.
, vol.49
, pp. 267-289
-
-
Alpert, J.B.1
Naidich, D.P.2
-
6
-
-
84864656289
-
Communicating new knowledge on previously reported genetic variants
-
Aronson, S.J, Clark, E.H, Varugheese, M, Baxter, S, Babb, L.J, and Rehm, H.L. 2012. Communicating new knowledge on previously reported genetic variants. Genet. Med. 14:713-719. doi: 10.1038/gim.2012.19
-
(2012)
Genet. Med.
, vol.14
, pp. 713-719
-
-
Aronson, S.J.1
Clark, E.H.2
Varugheese, M.3
Baxter, S.4
Babb, L.J.5
Rehm, H.L.6
-
7
-
-
79955002343
-
The GeneInsight suite: A platform to support laboratory and provider use of DNA-based genetic testing
-
Aronson, S.J, Clark, E.H, Babb, L.J, Baxter, S, Farwell, L.M, Funke, B.H, Hernandez, A.L, Joshi, V.A, Lyon, E, Parthum, A.R, Russell, F.J, Varugheese, M, Venman, T.C, and Rehm, H.L. 2011. The GeneInsight suite: A platform to support laboratory and provider use of DNA-based genetic testing. Hum. Mutat. 32:532-536. doi: 10.1002/humu.21470
-
(2011)
Hum. Mutat.
, vol.32
, pp. 532-536
-
-
Aronson, S.J.1
Clark, E.H.2
Babb, L.J.3
Baxter, S.4
Farwell, L.M.5
Funke, B.H.6
Hernandez, A.L.7
Joshi, V.A.8
Lyon, E.9
Parthum, A.R.10
Russell, F.J.11
Varugheese, M.12
Venman, T.C.13
Rehm, H.L.14
-
8
-
-
77951589703
-
Clinical assessment incorporating a personal genome
-
Ashley, E.A, Butte, A.J, Wheeler, M.T, Chen, R, Klein, T.E, Dewey, F.E, Dudley, J.T, Ormond, K.E, Pavlovic, A, Morgan, A.A, Pushkarev, D, Neff, N.F, Hudgins, L, Gong, L, Hodges, L.M, Berlin, D.S, Thorn, C.F, Sangkuhl, K, Hebert, J.M, Woon, M, Sagreiya, H, Whaley, R, Knowles, J.W, Chou, M.F, Thakuria, J.V, Rosenbaum, A.M, Zaranek, A.W, Church, G.M, Greely, H.T, Quake, S.R, and Altman, R.B. 2010. Clinical assessment incorporating a personal genome. Lancet 375:1525-1535. doi: 10.1016/S0140-6736(10)60452-7
-
(2010)
Lancet
, vol.375
, pp. 1525-1535
-
-
Ashley, E.A.1
Butte, A.J.2
Wheeler, M.T.3
Chen, R.4
Klein, T.E.5
Dewey, F.E.6
Dudley, J.T.7
Ormond, K.E.8
Pavlovic, A.9
Morgan, A.A.10
Pushkarev, D.11
Neff, N.F.12
Hudgins, L.13
Gong, L.14
Hodges, L.M.15
Berlin, D.S.16
Thorn, C.F.17
Sangkuhl, K.18
Hebert, J.M.19
Woon, M.20
Sagreiya, H.21
Whaley, R.22
Knowles, J.W.23
Chou, M.F.24
Thakuria, J.V.25
Rosenbaum, A.M.26
Zaranek, A.W.27
Church, G.M.28
Greely, H.T.29
Quake, S.R.30
Altman, R.B.31
more..
-
9
-
-
79959316645
-
Whole-genome sequencing for optimized patient management
-
Bainbridge, M.N, Wiszniewski, W, Murdock, D.R, Friedman, J, Gonzaga-Jauregui, C, Newsham, I, Reid, J.G, Fink, J.K, Morgan, M.B, Gingras, M.C, Muzny, D.M, Hoang, L.D, Yousaf, S, Lupski, J.R, and Gibbs, R.A. 2011. Whole-genome sequencing for optimized patient management. Sci. Transl. Med. 3:87re83. doi: 10.1126/scitranslmed.3002243
-
(2011)
Sci. Transl. Med.
, vol.3
, pp. 87re83
-
-
Bainbridge, M.N.1
Wiszniewski, W.2
Murdock, D.R.3
Friedman, J.4
Gonzaga-Jauregui, C.5
Newsham, I.6
Reid, J.G.7
Fink, J.K.8
Morgan, M.B.9
Gingras, M.C.10
Muzny, D.M.11
Hoang, L.D.12
Yousaf, S.13
Lupski, J.R.14
Gibbs, R.A.15
-
10
-
-
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, and Evans, J.P. 2011. Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genet. Med. 13:499-504. doi: 10.1097/GIM.0b013e318220aaba
-
(2011)
Genet. Med.
, vol.13
, pp. 499-504
-
-
Berg, J.S.1
Khoury, M.J.2
Evans, J.P.3
-
11
-
-
84867724867
-
An informatics approach to analyzing the incidentalome
-
Berg, J.S, Adams, M, Nassar, N, Bizon, C, Lee, K, Schmitt, C.P, Wilhelmsen, K.C, and Evans, J.P. 2013. An informatics approach to analyzing the incidentalome. Genet. Med. 1:36-44. doi: 10.1038/gim.2012.112
-
(2013)
Genet. Med.
, vol.1
, 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
-
12
-
-
0028872836
-
Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents
-
Boards of Directors, American Society of Human Genetics and American College of Medical Genetics. 1995. Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Am. J. Hum. Genet. 57:1233-1241.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1233-1241
-
-
-
13
-
-
66349117311
-
Using observational data for decision analysis and economic analysis
-
Brauer, C.A. and Bozic, K.J. 2009. Using observational data for decision analysis and economic analysis. J. Bone Joint Surg. Am. 91:73-79. doi: 10.2106/JBJS.H.01537
-
(2009)
J. Bone Joint Surg. Am.
, vol.91
, pp. 73-79
-
-
Brauer, C.A.1
Bozic, K.J.2
-
14
-
-
84887439425
-
Recommendations for returning genomic incidental findings? We need to talk
-
Burke, W, Antommaria, A.H, Bennett, R, Botkin, J, Clayton, E.W, Henderson, G.E, Holm, I.A, Jarvik, G.P, Khoury, M.J, Knoppers, B.M, Press, N.A, Ross, L.F, Rothstein, M.A, Saal, H, Uhlmann, W.R, Wilfond, B, Wolf, S.M, and Zimmern, R. 2013. Recommendations for returning genomic incidental findings? We need to talk! Genet. Med. 15:854-859. doi: 10.1038/gim.2013.113
-
(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
Press, N.A.11
Ross, L.F.12
Rothstein, M.A.13
Saal, H.14
Uhlmann, W.R.15
Wilfond, B.16
Wolf, S.M.17
Zimmern, R.18
-
15
-
-
84857855694
-
Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility
-
Cassa, C.A, Savage, S.K, Taylor, P.L, Green, R.C, McGuire, A.L, and Mandl, K.D. 2012. Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility. Genome Res. 22:421-428. doi: 10.1101/gr.127845.111
-
(2012)
Genome Res.
, vol.22
, pp. 421-428
-
-
Cassa, C.A.1
Savage, S.K.2
Taylor, P.L.3
Green, R.C.4
McGuire, A.L.5
Mandl, K.D.6
-
16
-
-
84923762812
-
A new initiative on precision medicine
-
Collins, F.S. and Varmus, H. 2015. A new initiative on precision medicine. N. Engl. J. Med. 372:793-795. doi: 10.1056/NEJMp1500523
-
(2015)
N. Engl. J. Med.
, vol.372
, pp. 793-795
-
-
Collins, F.S.1
Varmus, H.2
-
17
-
-
0038624107
-
Ethical issues with genetic testing in pediatrics
-
Committee on Bioethics, American Academy of Pediatrics. 2001. Ethical issues with genetic testing in pediatrics. Pediatrics 107:1451-1455. doi: 10.1542/peds.107.6.1451
-
(2001)
Pediatrics
, vol.107
, pp. 1451-1455
-
-
-
18
-
-
84861341396
-
Whole-genome sequencing in personalized therapeutics
-
Cordero, P. and Ashley, E.A. 2012. Whole-genome sequencing in personalized therapeutics. Clin. Pharmacol. Therapeut. 91:1001-1009. doi: 10.1038/clpt.2012.51
-
(2012)
Clin. Pharmacol. Therapeut.
, vol.91
, pp. 1001-1009
-
-
Cordero, P.1
Ashley, E.A.2
-
19
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1,000 participants' exomes
-
Dorschner, M.O, Amendola, L.M, Turner, E.H, Robertson, P.D, Shirts, B.H, Gallego, C.J, Bennett, R.L, Jones, K.L, Tokita, M.J, Bennett, J.T, Kim, J.H, Rosenthal, E.A, Kim, D.S, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor, H.K, Bamshad, M.J, Motulsky, A.G, Scott, C.R, Pritchard, C.C, Walsh, T, Burke, W, Raskind, W.H, Byers, P, Hisama, F.M, Nickerson, D.A, and Jarvik, G.P. 2013. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am. J. Hum. Genet. 93:631-640. doi: 10.1016/j.ajhg.2013.08.006
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
Robertson, P.D.4
Shirts, B.H.5
Gallego, C.J.6
Bennett, R.L.7
Jones, K.L.8
Tokita, M.J.9
Bennett, J.T.10
Kim, J.H.11
Rosenthal, E.A.12
Kim, D.S.13
Tabor, H.K.14
Bamshad, M.J.15
Motulsky, A.G.16
Scott, C.R.17
Pritchard, C.C.18
Walsh, T.19
Burke, W.20
Raskind, W.H.21
Byers, P.22
Hisama, F.M.23
Nickerson, D.A.24
Jarvik, G.P.25
more..
-
20
-
-
70449487355
-
Key aspects of health system change on the path to personalized medicine
-
Downing, G.J. 2009. Key aspects of health system change on the path to personalized medicine. Transl. Res. 154:272-276. doi: 10.1016/j.trsl.2009.09.003
-
(2009)
Transl. Res.
, vol.154
, pp. 272-276
-
-
Downing, G.J.1
-
21
-
-
84885793006
-
A systematic approach to assessing the clinical significance of genetic variants
-
Duzkale, H, Shen, J, McLaughlin, H, Alfares, A, Kelly, M.A, Pugh, T.J, Funke, B.H, Rehm, H.L, and Lebo, M.S. 2013. A systematic approach to assessing the clinical significance of genetic variants. Clin. Genet. 84:453-463. doi: 10.1111/cge.12257
-
(2013)
Clin. Genet.
, vol.84
, pp. 453-463
-
-
Duzkale, H.1
Shen, J.2
McLaughlin, H.3
Alfares, A.4
Kelly, M.A.5
Pugh, T.J.6
Funke, B.H.7
Rehm, H.L.8
Lebo, M.S.9
-
22
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
ENCODE Project Consortium. 2012. An integrated encyclopedia of DNA elements in the human genome. Nature 489:57-74. doi: 10.1038/nature11247
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
-
23
-
-
69549122599
-
Direct to consumer genetic testing: Avoiding a culture war
-
Evans, J.P. and Green, R.C. 2009. Direct to consumer genetic testing: Avoiding a culture war. Genet. Med. 11:568-569. doi: 10.1097/GIM.0b013e3181afbaed
-
(2009)
Genet. Med.
, vol.11
, pp. 568-569
-
-
Evans, J.P.1
Green, R.C.2
-
24
-
-
85075711231
-
-
Accessed May 5
-
Exome Aggregation Consortium (ExAC). http://exac.broadinstitute.org. Accessed May 5, 2015.
-
(2015)
-
-
-
25
-
-
77952786822
-
Genomic medicine—an updated primer
-
Feero, W.G, Guttmacher, A.E, and Collins, F.S. 2010. Genomic medicine—an updated primer. N. Engl. J. Med. 362:2001-2011. doi: 10.1056/NEJMra0907175
-
(2010)
N. Engl. J. Med.
, vol.362
, pp. 2001-2011
-
-
Feero, W.G.1
Guttmacher, A.E.2
Collins, F.S.3
-
26
-
-
79954997174
-
LOVD v.2.0: The next generation in gene variant databases
-
Fokkema, I.F, Taschner, P.E, Schaafsma, G.C, Celli, J, Laros, J.F, and den Dunnen, J.T. 2011. LOVD v.2.0: The next generation in gene variant databases. Hum. Mutat. 32:557-563. doi: 10.1002/humu.21438
-
(2011)
Hum. Mutat.
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
Celli, J.4
Laros, J.F.5
den Dunnen, J.T.6
-
27
-
-
79959375895
-
The future of direct-to-consumer clinical genetic tests
-
Frueh, F.W, Greely, H.T, Green, R.C, Hogarth, S, and Siegel, S. 2011. The future of direct-to-consumer clinical genetic tests. Nat. Rev. Genet. 12:511-515. doi: 10.1038/nrg3026
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 511-515
-
-
Frueh, F.W.1
Greely, H.T.2
Green, R.C.3
Hogarth, S.4
Siegel, S.5
-
28
-
-
27144525855
-
Whole-body CT screening: Spectrum of findings and recommendations in 1192 patients
-
Furtado, C.D, Aguirre, D.A, Sirlin, C.B, Dang, D, Stamato, S.K, Lee, P, Sani, F, Brown, M.A, Levin, D.L, and Casola, G. 2005. Whole-body CT screening: Spectrum of findings and recommendations in 1192 patients. Radiology 237:385-394. doi: 10.1148/radiol.2372041741
-
(2005)
Radiology
, vol.237
, pp. 385-394
-
-
Furtado, C.D.1
Aguirre, D.A.2
Sirlin, C.B.3
Dang, D.4
Stamato, S.K.5
Lee, P.6
Sani, F.7
Brown, M.A.8
Levin, D.L.9
Casola, G.10
-
29
-
-
80052838640
-
Unlocking Mendelian disease using exome sequencing
-
Gilissen, C, Hoischen, A, Brunner, H.G, and Veltman, J.A. 2011. Unlocking Mendelian disease using exome sequencing. Genome Biol. 12:228. doi: 10.1186/gb-2011-12-9-228
-
(2011)
Genome Biol.
, vol.12
, pp. 228
-
-
Gilissen, C.1
Hoischen, A.2
Brunner, H.G.3
Veltman, J.A.4
-
30
-
-
80855148238
-
Motivations and perceptions of early adopters of personalized genomics: Perspectives from research participants
-
Gollust, S.E, Gordon, E.S, Zayac, C, Griffin, G, Christman, M.F, Pyeritz, R.E, Wawak, L, and Bernhardt, B.A. 2012. Motivations and perceptions of early adopters of personalized genomics: Perspectives from research participants. Public Health Genomics 15:22-30. doi: 10.1159/000327296
-
(2012)
Public Health Genomics
, vol.15
, pp. 22-30
-
-
Gollust, S.E.1
Gordon, E.S.2
Zayac, C.3
Griffin, G.4
Christman, M.F.5
Pyeritz, R.E.6
Wawak, L.7
Bernhardt, B.A.8
-
31
-
-
80053557894
-
Human genome sequencing in health and disease
-
Gonzaga-Jauregui, C, Lupski, J.R, and Gibbs, R.A. 2012. Human genome sequencing in health and disease. Annu. Rev. Med. 63:35-61. doi: 10.1146/annurev-med-051010-162644
-
(2012)
Annu. Rev. Med.
, vol.63
, pp. 35-61
-
-
Gonzaga-Jauregui, C.1
Lupski, J.R.2
Gibbs, R.A.3
-
32
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green, R.C, Berg, J.S, Berry, G.T, Biesecker, L.G, Dimmock, D.P, Evans, J.P, Grody, W.W, Hegde, M.R, Kalia, S, Korf, B.R, Krantz, I, McGuire, A.L, Miller, D.T, Murray, M.F, Nussbaum, R.L, Plon, S.E, Rehm, H.L, and Jacob, H.J. 2012a. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet. Med. 14:405-410. doi: 10.1038/gim.2012.21
-
(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
Krantz, I.11
McGuire, A.L.12
Miller, D.T.13
Murray, M.F.14
Nussbaum, R.L.15
Plon, S.E.16
Rehm, H.L.17
Jacob, H.J.18
-
33
-
-
85075759861
-
-
November 7
-
Green, R.C, Mountain, J, Kiefer, A, Moreno, T, MacBean, E, Kalia, S.S, Roberts, J.S. and the PGen Study Group. 2012b. Consumer Genomics: Motivations and Intentions. American Society of Human Genetics, Annual Meeting. San Francisco, California. November 7, 2012.
-
(2012)
Consumer Genomics: Motivations and Intentions. American Society of Human Genetics, Annual Meeting. San Francisco, California
-
-
Green, R.C.1
Mountain, J.2
Kiefer, A.3
Moreno, T.4
MacBean, E.5
Kalia, S.S.6
Roberts, J.S.7
-
34
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green, R.C, Berg, J.S, Grody, W.W, Kalia, S.S, Korf, B.R, Martin, C.L, McGuire, A, Nussbaum, R.L, O’Daniel, J.M, Ormond, K.E, Rehm, H.L, Watson, M.S, Williams, M.S, and Biesecker, L.G. 2013a. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet. Med. 15:565-574. doi:10.1038/gim.2013.73
-
(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.7
Nussbaum, R.L.8
O’Daniel, J.M.9
Ormond, K.E.10
Rehm, H.L.11
Watson, M.S.12
Williams, M.S.13
Biesecker, L.G.14
-
35
-
-
84880423883
-
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
-
Green, R.C, Lupski, J.R, and Biesecker, L.G. 2013b. Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional. J. Am. Med. Assoc. 310:365-366. doi: 10.1001/jama.2013.41703
-
(2013)
J. Am. Med. Assoc.
, vol.310
, pp. 365-366
-
-
Green, R.C.1
Lupski, J.R.2
Biesecker, L.G.3
-
36
-
-
84883248971
-
Challenges in the clinical use of genome sequencing
-
2nd edition, H.F.G.Willard, G.S.Ginsburg, eds.)., Academic Press, New York
-
Green, R.C, Rehm, H.L, and Kohane, I. 2013c. Challenges in the clinical use of genome sequencing. In Genomic and Personalized Medicine, 2nd edition (H.F.G. Willard and G.S. Ginsburg, eds.). Academic Press, New York.
-
(2013)
Genomic and Personalized Medicine
-
-
Green, R.C.1
Rehm, H.L.2
Kohane, I.3
-
37
-
-
75549084134
-
Personalized genomic information: Preparing for the future of genetic medicine
-
Guttmacher, A.E, McGuire, A.L, Ponder, B, and Stefansson, K. 2010. Personalized genomic information: Preparing for the future of genetic medicine. Nat. Rev. Genet. 11:161-165. doi: 10.1038/nrg2735
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 161-165
-
-
Guttmacher, A.E.1
McGuire, A.L.2
Ponder, B.3
Stefansson, K.4
-
38
-
-
84880547053
-
Genomics in clinical practice: Lessons from the front lines
-
Jacob, H.J, Abrams, K, Bick, D.P, Brodie, K, Dimmock, D.P, Farrell, M, Geurts, J, Harris, J, Helbling, D, Joers, B.J, Kliegman, R, Kowalski, G, Lazar, J, Margolis, D.A, North, P, Northup, J, Roquemore-Goins, A, Scharer, G, Shimoyama, M, Strong, K, Taylor, B, Tsaih, S.W, Tschannen, M.R, Veith, R.L, Wendt-Andrae, J, Wilk, B, and Worthey, E.A. 2013. Genomics in clinical practice: Lessons from the front lines. Sci. Transl. Med. 5:194cm195. doi: 10.1126/scitranslmed.3006468
-
(2013)
Sci. Transl. Med.
, vol.5
, pp. 194cm195
-
-
Jacob, H.J.1
Abrams, K.2
Bick, D.P.3
Brodie, K.4
Dimmock, D.P.5
Farrell, M.6
Geurts, J.7
Harris, J.8
Helbling, D.9
Joers, B.J.10
Kliegman, R.11
Kowalski, G.12
Lazar, J.13
Margolis, D.A.14
North, P.15
Northup, J.16
Roquemore-Goins, A.17
Scharer, G.18
Shimoyama, M.19
Strong, K.20
Taylor, B.21
Tsaih, S.W.22
Tschannen, M.R.23
Veith, R.L.24
Wendt-Andrae, J.25
Wilk, B.26
Worthey, E.A.27
more..
-
39
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston, J.J, Rubinstein, W.S, Facio, F.M, Ng, D, Singh, L.N, Teer, J.K, Mullikin, J.C, and Biesecker, L.G. 2012. Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am. J. Hum. Genet. 91:97-108. doi: 10.1016/j.ajhg.2012.05.021
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
Ng, D.4
Singh, L.N.5
Teer, J.K.6
Mullikin, J.C.7
Biesecker, L.G.8
-
40
-
-
79851484043
-
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy
-
Jordan, D.M, Kiezum, A, Baxter, S.M, Agarwala, V, Green, R.C, Murray, M.F, Pugh, T, Lebo, M.S, Rehm, H.L, Funke, B.H, and Sunyaev, S. 2011. Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Am. J. Hum. Genet. 88:183-192. doi: 10.1016/j.ajhg.2011.01.011
-
(2011)
Am. J. Hum. Genet.
, vol.88
, pp. 183-192
-
-
Jordan, D.M.1
Kiezum, A.2
Baxter, S.M.3
Agarwala, V.4
Green, R.C.5
Murray, M.F.6
Pugh, T.7
Lebo, M.S.8
Rehm, H.L.9
Funke, B.H.10
Sunyaev, S.11
-
41
-
-
84939157303
-
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
-
(advance online publication, January 8, 2015)
-
Jurgens, J, Ling, H, Hetrick, K, Pugh, E, Schiettecatte, F, Doheny, K, Hamosh, A, Avramopoulos, D, Valle, D, and Sobreira, N. 2015. Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics. Genet. Med. (advance online publication, January 8, 2015). doi:10.1038/gim.2014.196
-
(2015)
Genet. Med.
-
-
Jurgens, J.1
Ling, H.2
Hetrick, K.3
Pugh, E.4
Schiettecatte, F.5
Doheny, K.6
Hamosh, A.7
Avramopoulos, D.8
Valle, D.9
Sobreira, N.10
-
42
-
-
84899633396
-
Defining functional DNA elements in the human genome
-
Kellis, M, Wold, B, Snyder, M.P, Bernstein, B.E, Kundaje, A, Marinov, G.K, Ward, L.D, Birney, E, Crawford, G.E, Dekker, J, Dunham, I, Elnitski, L.L, Farnham, P.J, Feingold, E.A, Gerstein, M, Giddings, M.C, Gilbert, D.M, Gingeras, T.R, Green, E.D, Guigo, R, Hubbard, T, Kent, J, Lieb, J.D, Myers, R.M, Pazin, M.J, Ren, B, Stamatoyannopoulos, J.A, Weng, Z, White, K.P, and Hardison, R.C. 2014. Defining functional DNA elements in the human genome. Proc. Natl. Acad. Sci. U.S.A. 111:6131-6138. doi: 10.1073/pnas.1318948111
-
(2014)
Proc. Natl. Acad. Sci. U.S.A.
, vol.111
, pp. 6131-6138
-
-
Kellis, M.1
Wold, B.2
Snyder, M.P.3
Bernstein, B.E.4
Kundaje, A.5
Marinov, G.K.6
Ward, L.D.7
Birney, E.8
Crawford, G.E.9
Dekker, J.10
Dunham, I.11
Elnitski, L.L.12
Farnham, P.J.13
Feingold, E.A.14
Gerstein, M.15
Giddings, M.C.16
Gilbert, D.M.17
Gingeras, T.R.18
Green, E.D.19
Guigo, R.20
Hubbard, T.21
Kent, J.22
Lieb, J.D.23
Myers, R.M.24
Pazin, M.J.25
Ren, B.26
Stamatoyannopoulos, J.A.27
Weng, Z.28
White, K.P.29
Hardison, R.C.30
more..
-
43
-
-
84880421555
-
Return of secondary genomic findings vs patient autonomy: Implications for medical care
-
Klitzman, R, Appelbaum, P.S, and Chung, W. 2013. Return of secondary genomic findings vs patient autonomy: Implications for medical care. J. Am. Med. Assoc. 310:369-370. doi: 10.1001/jama.2013.41709
-
(2013)
J. Am. Med. Assoc.
, vol.310
, pp. 369-370
-
-
Klitzman, R.1
Appelbaum, P.S.2
Chung, W.3
-
44
-
-
33745905942
-
The incidentalome: A threat to genomic medicine
-
Kohane, I.S, Masys, D.R, and Altman, R.B. 2006. The incidentalome: A threat to genomic medicine. JAMA 296:212-215. doi: 10.1001/jama.296.2.212
-
(2006)
JAMA
, vol.296
, pp. 212-215
-
-
Kohane, I.S.1
Masys, D.R.2
Altman, R.B.3
-
45
-
-
84859561085
-
Taxonomizing, sizing, and overcoming the incidentalome
-
Kohane, I.S, Hsing, M, and Kong, S.W. 2012. Taxonomizing, sizing, and overcoming the incidentalome. Genet. Med. 14:399-404. doi: 10.1038/gim.2011.68
-
(2012)
Genet. Med.
, vol.14
, pp. 399-404
-
-
Kohane, I.S.1
Hsing, M.2
Kong, S.W.3
-
46
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar, P, Henikoff, S, and Ng, P.C. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4:1073-1081. doi: 10.1038/nprot.2009.86
-
(2009)
Nat. Protoc.
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
47
-
-
84884302025
-
Communicating genetic risk information for common disorders in the era of genomic medicine
-
Lautenbach, D, Christensen, K, Sparks, J, and Green, R.C. 2013. Communicating genetic risk information for common disorders in the era of genomic medicine. Annu. Rev. Genomics Hum. Genet. 14:491-513. doi: 10.1146/annurev-genom-092010-110722
-
(2013)
Annu. Rev. Genomics Hum. Genet.
, vol.14
, pp. 491-513
-
-
Lautenbach, D.1
Christensen, K.2
Sparks, J.3
Green, R.C.4
-
48
-
-
84918840439
-
Clinical exome sequencing for genetic identification of rare Mendelian disorders
-
Lee, H, Deignan, J.L, Dorrani, N, Strom, S.P, Kantarci, S, Quintero-Rivera, F, Das, K, Toy, T, Harry, B, Yourshaw, M, Fox, M, Fogel, B.L, Martinez-Agosto, J.A, Wong, D.A, Chang, V.Y, Shieh, P.B, Palmer, C.G, Dipple, K.M, Grody, W.W, Vilain, E, and Nelson, S.F. 2014. Clinical exome sequencing for genetic identification of rare Mendelian disorders. J. Am. Med. Assoc. 312:1880-1887. doi: 10.1001/jama.2014.14604
-
(2014)
J. Am. Med. Assoc.
, vol.312
, pp. 1880-1887
-
-
Lee, H.1
Deignan, J.L.2
Dorrani, N.3
Strom, S.P.4
Kantarci, S.5
Quintero-Rivera, F.6
Das, K.7
Toy, T.8
Harry, B.9
Yourshaw, M.10
Fox, M.11
Fogel, B.L.12
Martinez-Agosto, J.A.13
Wong, D.A.14
Chang, V.Y.15
Shieh, P.B.16
Palmer, C.G.17
Dipple, K.M.18
Grody, W.W.19
Vilain, E.20
Nelson, S.F.21
more..
-
49
-
-
77950565347
-
Incidental findings in imaging diagnostic tests: A systematic review
-
Lumbreras, B, Donat, L, and Hernandez-Aguado, I. 2010. Incidental findings in imaging diagnostic tests: A systematic review. Br. J. Radiol. 83:276-289. doi: 10.1259/bjr/98067945
-
(2010)
Br. J. Radiol.
, vol.83
, pp. 276-289
-
-
Lumbreras, B.1
Donat, L.2
Hernandez-Aguado, I.3
-
50
-
-
79951865370
-
Clinical implications of the cancer genome
-
MacConaill, L.E. and Garraway, L.A. 2010. Clinical implications of the cancer genome. J. Clin. Oncol. 28:5219-5228. doi: 10.1200/JCO.2009.27.4944
-
(2010)
J. Clin. Oncol.
, vol.28
, pp. 5219-5228
-
-
MacConaill, L.E.1
Garraway, L.A.2
-
51
-
-
79551559907
-
Genomics and the continuum of cancer care
-
McDermott, U, Downing, J.R, and Stratton, M.R. 2011. Genomics and the continuum of cancer care. N. Engl. J. Med. 364:340-350. doi: 10.1056/NEJMp1014256
-
(2011)
N. Engl. J. Med.
, vol.364
, pp. 340-350
-
-
McDermott, U.1
Downing, J.R.2
Stratton, M.R.3
-
52
-
-
70449719034
-
Social networkers’ attitudes toward direct-to-consumer personal genome testing
-
McGuire, A.L, Diaz, C.M, Wang, T, and Hilsenbeck, S.G. 2009. Social networkers’ attitudes toward direct-to-consumer personal genome testing. Am. J. Bioethics 9:3-10. doi: 10.1080/15265160902928209
-
(2009)
Am. J. Bioethics
, vol.9
, pp. 3-10
-
-
McGuire, A.L.1
Diaz, C.M.2
Wang, T.3
Hilsenbeck, S.G.4
-
53
-
-
84878354128
-
Point-counterpoint. Ethics and genomic incidental findings
-
McGuire, A.L, Joffe, S, Koenig, B.A, Biesecker, B.B, McCullough, L.B, Blumenthal-Barby, J.S, Caulfield, T, Terry, S.F, and Green, R.C. 2013. Point-counterpoint. Ethics and genomic incidental findings. Science 340:1047-1048. doi: 10.1126/science.1240156
-
(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
-
54
-
-
84923928478
-
A systematic approach to the reporting of medically relevant findings from whole genome sequencing
-
McLaughlin, H.M, Ceyhan-Birsoy, O, Christensen, K.D, Kohane, I.S, Krier, J, Lane, W.J, Lautenbach, D, Lebo, M.S, Machini, K, MacRae, C.A, Azzariti, D.R, Murray, M.F, Seidman, C.E, Vassy, J.L, Green, R.C, Rehm, H.L, and for The MedSeq Project. 2014. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med. Genet. 15:134. doi: 10.1186/s12881-014-0134-1
-
(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
Azzariti, D.R.11
Murray, M.F.12
Seidman, C.E.13
Vassy, J.L.14
Green, R.C.15
Rehm, H.L.16
-
55
-
-
85075752537
-
Explaining, not just predicting, drives interest in personal genomics
-
for, In press
-
Meisel, S.F, Carere, D.A, Wardle, J, Kalia, S.S, Moreno, T.A, Mountain, J.L, Roberts, J.S, and Green, R.C, for the PGEN Study Group. Explaining, not just predicting, drives interest in personal genomics. Genome Med. In press.
-
Genome Med.
-
-
Meisel, S.F.1
Carere, D.A.2
Wardle, J.3
Kalia, S.S.4
Moreno, T.A.5
Mountain, J.L.6
Roberts, J.S.7
Green, R.C.8
-
56
-
-
77956838065
-
Advances in understanding cancer genomes through second-generation sequencing
-
Meyerson, M, Gabriel, S, and Getz, G. 2010. Advances in understanding cancer genomes through second-generation sequencing. Nat. Rev. Genet. 11:685-696. doi: 10.1038/nrg2841
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 685-696
-
-
Meyerson, M.1
Gabriel, S.2
Getz, G.3
-
57
-
-
79952207938
-
Coronary artery bifurcation interventions: The disconnect between randomized clinical trials and patient centered decision-making
-
Moussa, I.D. 2011. Coronary artery bifurcation interventions: The disconnect between randomized clinical trials and patient centered decision-making. Catheter Cardiovasc. Interv. 77:537-545. doi: 10.1002/ccd.22865
-
(2011)
Catheter Cardiovasc. Interv.
, vol.77
, pp. 537-545
-
-
Moussa, I.D.1
-
58
-
-
0043122919
-
SIFT: Predicting amino acid changes that affect protein function
-
Ng, P.C. and Henikoff, S. 2003. SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res. 31:3812-3814. doi: 10.1093/nar/gkg509
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
59
-
-
59949098714
-
Update on the methods of the U.S. Preventive Services Task Force: Insufficient evidence
-
on
-
Petitti, D.B, Teutsch, S.M, Barton, M.B, Sawaya, G.F, Ockene, J.K, DeWitt, T, on behalf of the U.S. Preventive Services Task Force. 2009. Update on the methods of the U.S. Preventive Services Task Force: Insufficient evidence. Ann. Intern. Med. 150:199-205.
-
(2009)
Ann. Intern. Med.
, vol.150
, pp. 199-205
-
-
Petitti, D.B.1
Teutsch, S.M.2
Barton, M.B.3
Sawaya, G.F.4
Ockene, J.K.5
DeWitt, T.6
-
60
-
-
79951809825
-
CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network
-
Relling, M.V. and Klein, T.E. 2011. CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network. Clin. Pharmacol. Ther. 89:464-467. doi: 10.1038/clpt.2010.279
-
(2011)
Clin. Pharmacol. Ther.
, vol.89
, pp. 464-467
-
-
Relling, M.V.1
Klein, T.E.2
-
61
-
-
77953543620
-
Clinical implementation of pharmacogenomics: Overcoming genetic exceptionalism
-
Relling, M.V, Altman, R.B, Goetz, M.P, and Evans, W.E. 2010. Clinical implementation of pharmacogenomics: Overcoming genetic exceptionalism. Lancet Oncol. 11:507-509. doi: 10.1016/S1470-2045(10)70097-8
-
(2010)
Lancet Oncol.
, vol.11
, pp. 507-509
-
-
Relling, M.V.1
Altman, R.B.2
Goetz, M.P.3
Evans, W.E.4
-
62
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Richards, C.S, Bale, S, Bellissimo, D.B, Das, S, Grody, W.W, Hegde, M.R, Lyon, E, and Ward, B.E. 2008. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet. Med. 10:294-300. doi: 10.1097/GIM.0b013e31816b5cae
-
(2008)
Genet. Med.
, vol.10
, pp. 294-300
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
Das, S.4
Grody, W.W.5
Hegde, M.R.6
Lyon, E.7
Ward, B.E.8
-
63
-
-
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
-
Richards, S, Aziz, N, Bale, S, Bick, D, Das, S, Gastier-Foster, J, Grody, W.W, Hegde, M, Lyon, E, Spector, E, Voelkerding, K, and Rehm, H.L. 2015. 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. 17:405-423. doi: 10.1038/gim.2015.30
-
(2015)
Genet. Med.
, vol.17
, pp. 405-423
-
-
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
Voelkerding, K.11
Rehm, H.L.12
-
64
-
-
80053563231
-
Using Alzheimer's disease as a model for genetic risk disclosure: Implications for personal genomics
-
Roberts, J.S, Christensen, K.D, and Green, R.C. 2011. Using Alzheimer's disease as a model for genetic risk disclosure: Implications for personal genomics. Clin Genet. 80:407-414. doi: 10.1111/j.1399-0004.2011.01739.x
-
(2011)
Clin Genet.
, vol.80
, pp. 407-414
-
-
Roberts, J.S.1
Christensen, K.D.2
Green, R.C.3
-
65
-
-
84882256522
-
Incidental findings in children with blunt head trauma evaluated with cranial CT scans
-
Rogers, A.J, Maher, C.O, Schunk, J.E, Quayle, K, Jacobs, E, Lichenstein, R, Powell, E, Miskin, M, Dayan, P, Holmes, J.F, Kuppermann, N, for the Pediatric Emergency Care Applied Research Network. 2013. Incidental findings in children with blunt head trauma evaluated with cranial CT scans. Pediatrics 132:e356-e363. doi: 10.1542/peds.2013-0299
-
(2013)
Pediatrics
, vol.132
, pp. e356-e363
-
-
Rogers, A.J.1
Maher, C.O.2
Schunk, J.E.3
Quayle, K.4
Jacobs, E.5
Lichenstein, R.6
Powell, E.7
Miskin, M.8
Dayan, P.9
Holmes, J.F.10
Kuppermann, N.11
-
66
-
-
84880411296
-
Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making
-
Ross, L.F, Rothstein, M.A, and Clayton, E.W. 2013. Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making. J. Am. Med. Assoc. 310:367-368. doi: 10.1001/jama.2013.41700
-
(2013)
J. Am. Med. Assoc.
, vol.310
, pp. 367-368
-
-
Ross, L.F.1
Rothstein, M.A.2
Clayton, E.W.3
-
67
-
-
79956292760
-
The case for locus-specific databases
-
Samuels, M.E. and Rouleau, G.A. 2011. The case for locus-specific databases. Nat. Rev. Genet. 12:378-379. doi: 10.1038/nrg3011
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 378-379
-
-
Samuels, M.E.1
Rouleau, G.A.2
-
68
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
Saunders, C.J, Miller, N.A, Soden, S.E, Dinwiddie, D.L, Noll, A, Alnadi, N.A, Andraws, N, Patterson, M.L, Krivohlavek, L.A, Fellis, J, Humphray, S, Saffrey, P, Kingsbury, Z, Weir, J.C, Betley, J, Grocock, R.J, Margulies, E.H, Farrow, E.G, Artman, M, Safina, N.P, Petrikin, J.E, Hall, K.P, and Kingsmore, S.F. 2012. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 4:154ra135. doi: 10.1126/scitranslmed.3004041
-
(2012)
Sci. Transl. Med.
, vol.4
, pp. 154ra135
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
Dinwiddie, D.L.4
Noll, A.5
Alnadi, N.A.6
Andraws, N.7
Patterson, M.L.8
Krivohlavek, L.A.9
Fellis, J.10
Humphray, S.11
Saffrey, P.12
Kingsbury, Z.13
Weir, J.C.14
Betley, J.15
Grocock, R.J.16
Margulies, E.H.17
Farrow, E.G.18
Artman, M.19
Safina, N.P.20
Petrikin, J.E.21
Hall, K.P.22
Kingsmore, S.F.23
more..
-
69
-
-
84884515523
-
Genomics and epigenomics: New promises of personalized medicine for cancer patients
-
Schweiger, M.R, Barmeyer, C, and Timmermann, B. 2013. Genomics and epigenomics: New promises of personalized medicine for cancer patients. Brief Funct. Genomics 12:411-421. doi: 10.1093/bfgp/elt024
-
(2013)
Brief Funct. Genomics
, vol.12
, pp. 411-421
-
-
Schweiger, M.R.1
Barmeyer, C.2
Timmermann, B.3
-
70
-
-
77953446523
-
The human gene mutation database: 2008 update
-
Stenson, P, Mort, M, Ball, E, Howells, K, Phillips, A, Thomas, N, and Cooper, D. 2009. The human gene mutation database: 2008 update. Genome Med. 1:13. doi: 10.1186/gm13
-
(2009)
Genome Med.
, vol.1
, pp. 13
-
-
Stenson, P.1
Mort, M.2
Ball, E.3
Howells, K.4
Phillips, A.5
Thomas, N.6
Cooper, D.7
-
71
-
-
79952592151
-
Automated validation of genetic variants from large databases: Ensuring that variant references refer to the same genomic locations
-
Tong, M.Y, Cassa, C.A, and Kohane, I.S. 2011. Automated validation of genetic variants from large databases: Ensuring that variant references refer to the same genomic locations. Bioinformatics 27:891-893. doi: 10.1093/bioinformatics/btr029
-
(2011)
Bioinformatics
, vol.27
, pp. 891-893
-
-
Tong, M.Y.1
Cassa, C.A.2
Kohane, I.S.3
-
72
-
-
33645464046
-
New thinking: Theory vs practice. A case study illustrating evidence-based therapeutic decision making
-
Travis, S.P. 2006. New thinking: Theory vs practice. A case study illustrating evidence-based therapeutic decision making. Colorectal Dis. 8:25-29. doi: 10.1111/j.1463-1318.2006.00989.x
-
(2006)
Colorectal Dis.
, vol.8
, pp. 25-29
-
-
Travis, S.P.1
-
73
-
-
84869237926
-
Incidental chest radiographic findings in adult patients with acute cough
-
Van Vugt, S, Broekhuizen, L, Zuithoff, N, de Jong, P, Butler, C, Hood, K, Coenen, S, Goossens, H, Little, P, Almirall, J, Blasi, F, Chlabicz, S, Davies, M, Godycki-Cwirko, M, Hupkova, H, Kersnik, J, Mierzecki, A, Molstad, S, Moore, M, Schaberg, T, De Sutter, A, Torres, A, Touboul, P, and Verheij, T, and On behalf of the GRACE Project Group. 2012. Incidental chest radiographic findings in adult patients with acute cough. Ann. Fam. Med. 10:510-515. doi: 10.1370/afm.1384
-
(2012)
Ann. Fam. Med.
, vol.10
, pp. 510-515
-
-
Van Vugt, S.1
Broekhuizen, L.2
Zuithoff, N.3
de Jong, P.4
Butler, C.5
Hood, K.6
Coenen, S.7
Goossens, H.8
Little, P.9
Almirall, J.10
Blasi, F.11
Chlabicz, S.12
Davies, M.13
Godycki-Cwirko, M.14
Hupkova, H.15
Kersnik, J.16
Mierzecki, A.17
Molstad, S.18
Moore, M.19
Schaberg, T.20
De Sutter, A.21
Torres, A.22
Touboul, P.23
Verheij, T.24
more..
-
74
-
-
77952768072
-
Ten years on—the human genome and medicine
-
Varmus, H. 2010. Ten years on—the human genome and medicine. N. Engl. J. Med. 362:2028-2029. doi: 10.1056/NEJMe0911933
-
(2010)
N. Engl. J. Med.
, vol.362
, pp. 2028-2029
-
-
Varmus, H.1
-
75
-
-
84929649852
-
How to know when physicians are ready to use genomic medicine
-
Vassy, J.L, Korf, B.R, and Green, R.C. 2015. How to know when physicians are ready to use genomic medicine. Sci. Transl. Med. 7:287fs19.
-
(2015)
Sci. Transl. Med.
, vol.7
, pp. 287fs19
-
-
Vassy, J.L.1
Korf, B.R.2
Green, R.C.3
-
76
-
-
84920774885
-
‘Someday it will be the norm': Physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project
-
Vassy, J.L, Christensen, K.D, Slashinski, M.J, Lautenbach, D.M, Raghavan, S, Robinson, J.O, Blumenthal-Barby, J, Feuerman, L.Z, Lehmann, L.S, Murray, M.F, Green, R.C, and McGuire, A.L. 2015. ‘Someday it will be the norm': Physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project. Per. Med. 12:23-32. doi: 10.2217/pme.14.68
-
(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
Green, R.C.11
McGuire, A.L.12
-
77
-
-
83755196521
-
Clinical application of high throughput molecular screening techniques for pharmacogenomics
-
Wiita, A.P. and Schrijver, I. 2011. Clinical application of high throughput molecular screening techniques for pharmacogenomics. Pharmgenomics. Pers. Med. 4:109-121.
-
(2011)
Pharmgenomics. Pers. Med.
, vol.4
, pp. 109-121
-
-
Wiita, A.P.1
Schrijver, I.2
-
78
-
-
84944684271
-
Disclosing secondary findings from genomic sequencing to families: considering the “Benefit to Families”
-
In press
-
Wilfond, B.S, Fernandez, C.V, and Green, R.C. 2015. Disclosing secondary findings from genomic sequencing to families: considering the “Benefit to Families”. J. Law Med. Ethics. In press.
-
(2015)
J. Law Med. Ethics.
-
-
Wilfond, B.S.1
Fernandez, C.V.2
Green, R.C.3
-
79
-
-
84878364688
-
Point-counterpoint. Patient autonomy and incidental findings in clinical genomics
-
Wolf, S.M, Annas, G.J, and Elias, S. 2013. Point-counterpoint. Patient autonomy and incidental findings in clinical genomics. Science 340:1049-1050. doi: 10.1126/science.1239119
-
(2013)
Science
, vol.340
, pp. 1049-1050
-
-
Wolf, S.M.1
Annas, G.J.2
Elias, S.3
-
80
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey, E.A, Mayer, A.N, Syverson, G.D, Helbling, D, Bonacci, B.B, Decker, B, Serpe, J.M, Dasu, T, Tschannen, M.R, Veith, R.L, Basehore, M.J, Broeckel, U, Tomita-Mitchell, A, Arca, M.J, Casper, J.T, Margolis, D.A, Bick, D.P, Hessner, M.J, Routes, J.M, Verbsky, J.W, Jacob, H.J, and Dimmock, D.P. 2011. Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 13:255-262. doi: 10.1097/GIM.0b013e3182088158
-
(2011)
Genet. Med.
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
Basehore, M.J.11
Broeckel, U.12
Tomita-Mitchell, A.13
Arca, M.J.14
Casper, J.T.15
Margolis, D.A.16
Bick, D.P.17
Hessner, M.J.18
Routes, J.M.19
Verbsky, J.W.20
Jacob, H.J.21
Dimmock, D.P.22
more..
-
81
-
-
84861715051
-
-
Wright, C, Burton, H, Hall, A, Moorthie, S, Pokorska-Bocci, A, Sagoo, G, Sanderson, S, and Skinner, R. 2011. Next steps in the sequence. The implications of whole genome sequencing for health in the UK. PHG Foundation. http://www.phgfoundation.org
-
(2011)
Next steps in the sequence. The implications of whole genome sequencing for health in the UK. PHG Foundation
-
-
Wright, C.1
Burton, H.2
Hall, A.3
Moorthie, S.4
Pokorska-Bocci, A.5
Sagoo, G.6
Sanderson, S.7
Skinner, R.8
-
82
-
-
84870900036
-
Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
-
Xue, Y, Chen, Y, Ayub, Q, Huang, N, Ball, E.V, Mort, M, Phillips, A.D, Shaw, K, Stenson, P.D, Cooper, D.N, and Tyler-Smith, C. 2012. Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing. Am. J. Hum. Genet. 91:1022-1032. doi: 10.1016/j.ajhg.2012.10.015
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 1022-1032
-
-
Xue, Y.1
Chen, Y.2
Ayub, Q.3
Huang, N.4
Ball, E.V.5
Mort, M.6
Phillips, A.D.7
Shaw, K.8
Stenson, P.D.9
Cooper, D.N.10
Tyler-Smith, C.11
-
83
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang, Y, Muzny, D.M, Reid, J.G, Bainbridge, M.N, Willis, A, Ward, P.A, Braxton, A, Beuten, J, Xia, F, Niu, Z, Hardison, M, Person, R, Bekheirnia, M.R, Leduc, M.S, Kirby, A, Pham, P, Scull, J, Wang, M, Ding, Y, Plon, S.E, Lupski, J.R, Beaudet, A.L, Gibbs, R.A, and Eng, C.M. 2013. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N. Engl. J. Med. 369:1502-1511. doi: 10.1056/NEJMoa1306555
-
(2013)
N. Engl. J. Med.
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
Bainbridge, M.N.4
Willis, A.5
Ward, P.A.6
Braxton, A.7
Beuten, J.8
Xia, F.9
Niu, Z.10
Hardison, M.11
Person, R.12
Bekheirnia, M.R.13
Leduc, M.S.14
Kirby, A.15
Pham, P.16
Scull, J.17
Wang, M.18
Ding, Y.19
Plon, S.E.20
Lupski, J.R.21
Beaudet, A.L.22
Gibbs, R.A.23
Eng, C.M.24
more..
-
84
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang, Y, Muzny, D.M, Xia, F, Niu, Z, Person, R, Ding, Y, Ward, P, Braxton, A, Wang, M, Buhay, C, Veeraraghavan, N, Hawes, A, Chiang, T, Leduc, M, Beuten, J, Zhang, J, He, W, Scull, J, Willis, A, Landsverk, M, Craigen, W.J, Bekheirnia, M.R, Stray-Pedersen, A, Liu, P, Wen, S, Alcaraz, W, Cui, H, Walkiewicz, M, Reid, J, Bainbridge, M, Patel, A, Boerwinkle, E, Beaudet, A.L, Lupski, J.R, Plon, S.E, Gibbs, R.A, and Eng, C.M. 2014. Molecular findings among patients referred for clinical whole-exome sequencing. J. Am. Med. Assoc. 312:1870-1879. doi: 10.1001/jama.2014.14601
-
(2014)
J. Am. Med. Assoc.
, 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
Veeraraghavan, N.11
Hawes, A.12
Chiang, T.13
Leduc, M.14
Beuten, J.15
Zhang, J.16
He, W.17
Scull, J.18
Willis, A.19
Landsverk, M.20
Craigen, W.J.21
Bekheirnia, M.R.22
Stray-Pedersen, A.23
Liu, P.24
Wen, S.25
Alcaraz, W.26
Cui, H.27
Walkiewicz, M.28
Reid, J.29
Bainbridge, M.30
Patel, A.31
Boerwinkle, E.32
Beaudet, A.L.33
Lupski, J.R.34
Plon, S.E.35
Gibbs, R.A.36
Eng, C.M.37
more..
|