-
1
-
-
77951589703
-
Clinical assessment incorporating a personal genome
-
Ashley, E. A., A. J. Butte, M. T. Wheeler, R. Chen, T. E. Klein, F. E. Dewey, et al. 2010. Clinical assessment incorporating a personal genome. Lancet 375:1525–1535.
-
(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
-
2
-
-
84884416457
-
Rare-disease genetics in the era of next-generation sequencing: Discovery to translation
-
Boycott, K. M., M. R. Vanstone, D. E. Bulman, and A. E. MacKenzie. 2013. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. 14:681–691.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 681-691
-
-
Boycott, K.M.1
Vanstone, M.R.2
Bulman, D.E.3
Mackenzie, A.E.4
-
3
-
-
84865790047
-
An integrated encyclopedia of DNA elements in the human genome
-
Consortium, E. P., B. E. Bernstein, E. Birney, I. Dunham, E. D. Green, C. Gunter, et al. 2012. An integrated encyclopedia of DNA elements in the human genome. Nature 489:57–74.
-
(2012)
Nature
, vol.489
, pp. 57-74
-
-
Consortium, E.P.1
Bernstein, B.E.2
Birney, E.3
Dunham, I.4
Green, E.D.5
Gunter, C.6
-
4
-
-
84896769549
-
Clinical interpretation and implications of whole-genome sequencing
-
Dewey, F. E., M. E. Grove, C. Pan, B. A. Goldstein, J. A. Bernstein, H. Chaib, et al. 2014. Clinical interpretation and implications of whole-genome sequencing. JAMA 311:1035– 1045.
-
(2014)
JAMA
, vol.311
, pp. 1035-1045
-
-
Dewey, F.E.1
Grove, M.E.2
Pan, C.3
Goldstein, B.A.4
Bernstein, J.A.5
Chaib, H.6
-
5
-
-
84864397328
-
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis
-
Emond, M. J., T. Louie, J. Emerson, W. Zhao, R. A. Mathias, M. R. Knowles, et al. 2012. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat. Genet. 44:886–889.
-
(2012)
Nat. Genet.
, vol.44
, pp. 886-889
-
-
Emond, M.J.1
Louie, T.2
Emerson, J.3
Zhao, W.4
Mathias, R.A.5
Knowles, M.R.6
-
6
-
-
84896797913
-
Clinical application of whole-genome sequencing: Proceed with care
-
Feero, W. G. 2014. Clinical application of whole-genome sequencing: proceed with care. JAMA 311:1017–1019.
-
(2014)
JAMA
, vol.311
, pp. 1017-1019
-
-
Feero, W.G.1
-
7
-
-
84924557958
-
How will genomic information become integrated into the health care system?
-
Francke, U. 2013. How will genomic information become integrated into the health care system? Mol. Genet. Genomic Med. 1:67–70.
-
(2013)
Mol. Genet. Genomic Med.
, vol.1
, pp. 67-70
-
-
Francke, U.1
-
8
-
-
84888267800
-
Using exome data to identify malignant hyperthermia susceptibility mutations
-
Gonsalves, S. G., D. Ng, J. J. Johnston, J. K. Teer, P. D. Stenson, D. N. Cooper, et al. 2013. Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology 119:1043–1053.
-
(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
-
9
-
-
84897908258
-
Technology: The $1,000 genome
-
Hayden, E. C. 2014. Technology: the $1,000 genome. Nature 507:294–295.
-
(2014)
Nature
, vol.507
, pp. 294-295
-
-
Hayden, E.C.1
-
10
-
-
84864360759
-
Next-generation sequencing demands next-generation phenotyping
-
Hennekam, R. C., and L. G. Biesecker. 2012. Next-generation sequencing demands next-generation phenotyping. Hum. Mutat. 33:884–886.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 884-886
-
-
Hennekam, R.C.1
Biesecker, L.G.2
-
11
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston, J. J., W. S. Rubinstein, F. M. Facio, D. Ng, L. N. Singh, J. K. Teer, et al. 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.
-
(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
-
12
-
-
84927513080
-
Genomic medicine: Educational challenges
-
Korf, B. R. 2013. Genomic medicine: educational challenges. Mol. Genet. Genomic Med. 1:119–122.
-
(2013)
Mol. Genet. Genomic Med.
, vol.1
, pp. 119-122
-
-
Korf, B.R.1
-
13
-
-
2042437650
-
Initial sequencing and analysis of the human genome
-
Lander, E. S., L. M. Linton, B. Birren, C. Nusbaum, M. C. Zody, J. Baldwin, et al. 2001. Initial sequencing and analysis of the human genome. Nature 409:860–921.
-
(2001)
Nature
, vol.409
, pp. 860-921
-
-
Lander, E.S.1
Linton, L.M.2
Birren, B.3
Nusbaum, C.4
Zody, M.C.5
Baldwin, J.6
-
14
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
Lupski, J. R., J. G. Reid, C. Gonzaga-Jauregui, D. Rio Deiros, D. C. Chen, L. Nazareth, et al. 2010. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362:1181–1191.
-
(2010)
N. Engl. J. Med.
, vol.362
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
-
15
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is here
-
Manolio, T. A., R. L. Chisholm, B. Ozenberger, D. M. Roden, M. S. Williams, R. Wilson, et al. 2013. Implementing genomic medicine in the clinic: the future is here. Genet. Med. 15:258–267.
-
(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
-
16
-
-
78650775954
-
The $1,000 genome, the $100,000 analysis
-
Mardis, E. R. 2010. The $1,000 genome, the $100,000 analysis? Genome Med. 2:84.
-
(2010)
Genome Med
, vol.2
, pp. 84
-
-
Mardis, E.R.1
-
17
-
-
84872861423
-
Can ENCODE tell us how much junk DNA we carry in our genome?
-
Niu, D. K., and L. Jiang. 2013. Can ENCODE tell us how much junk DNA we carry in our genome? Biochem. Biophys. Res. Commun. 430:1340–1343.
-
(2013)
Biochem. Biophys. Res. Commun.
, vol.430
, pp. 1340-1343
-
-
Niu, D.K.1
Jiang, L.2
-
18
-
-
84881618216
-
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
-
Piton, A., C. Redin, and J. L. Mandel. 2013. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am. J. Hum. Genet. 93:368–383.
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 368-383
-
-
Piton, A.1
Redin, C.2
Mandel, J.L.3
-
19
-
-
0024453308
-
Identification of the cystic fibrosis gene: Chromosome walking and jumping
-
Rommens, J. M., M. C. Iannuzzi, B. Kerem, M. L. Drumm, G. Melmer, M. Dean, et al. 1989. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 245:1059–1065.
-
(1989)
Science
, vol.245
, pp. 1059-1065
-
-
Rommens, J.M.1
Iannuzzi, M.C.2
Kerem, B.3
Drumm, M.L.4
Melmer, G.5
Dean, M.6
-
20
-
-
84896743548
-
Incidentalomas in genomics and radiology
-
Solomon, B. D. 2014a. Incidentalomas in genomics and radiology. N. Engl. J. Med. 370:988–990.
-
(2014)
N. Engl. J. Med
, vol.370
, pp. 988-990
-
-
Solomon, B.D.1
-
21
-
-
84896287962
-
Enhancing the incidental pipeline in genomic sequencing
-
Solomon, B. D. 2014b. Enhancing the incidental pipeline in genomic sequencing. Mol. Syndromol. 5:4.
-
(2014)
Mol. Syndromol.
, vol.5
, pp. 4
-
-
Solomon, B.D.1
-
22
-
-
84861926494
-
Incidental medical information in whole-exome sequencing
-
Solomon, B. D., D. W. Hadley, D. E. Pineda-Alvarez, N. C. S. Program, A. Kamat, J. K. Teer, et al. 2012. Incidental medical information in whole-exome sequencing. Pediatrics 129:e1605–e1611.
-
(2012)
Pediatrics
, vol.129
, pp. e1605-e1611
-
-
Solomon, B.D.1
Hadley, D.W.2
Pineda-Alvarez, D.E.3
Program, N.C.S.4
Kamat, A.5
Teer, J.K.6
-
23
-
-
84878990796
-
Clinical genomic database
-
Solomon, B. D., A. D. Nguyen, K. A. Bear, and T. G. Wolfsberg. 2013. Clinical genomic database. Proc. Natl. Acad. Sci. USA 110:9851–9855.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. 9851-9855
-
-
Solomon, B.D.1
Nguyen, A.D.2
Bear, K.A.3
Wolfsberg, T.G.4
-
24
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
Sosnay, P. R., K. R. Siklosi, F. Van Goor, K. Kaniecki, H. Yu, N. Sharma, et al. 2013. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat. Genet. 45:1160–1167.
-
(2013)
Nat. Genet.
, vol.45
, pp. 1160-1167
-
-
Sosnay, P.R.1
Siklosi, K.R.2
van Goor, F.3
Kaniecki, K.4
Yu, H.5
Sharma, N.6
-
25
-
-
84885143916
-
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record
-
Tarczy-Hornoch, P., L. Amendola, S. J. Aronson, L. Garraway, S. Gray, R. W. Grundmeier, et al. 2013. A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet. Med. 15:824–832.
-
(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
-
26
-
-
84870900036
-
Deleterious-and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
-
Xue, Y., Y. Chen, Q. Ayub, N. Huang, E. V. Ball, M. Mort, et al. 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.
-
(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
-
27
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
-
Yang, Y., D. M. Muzny, J. G. Reid, M. N. Bainbridge, A. Willis, P. A. Ward, et al. 2013. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N. Engl. J. Med. 369:1502–1511.
-
(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
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