-
1
-
-
84875939245
-
Implementing genomic medicine in the clinic: The future is herer
-
Manolio TA, Chisholm RL, Ozenberger B, et al. Implementing genomic medicine in the clinic: the future is here. Genet Med 2013;15:258-267.
-
(2013)
Genet Med
, vol.15
, pp. 258-267
-
-
Manolio, T.A.1
Chisholm, R.L.2
Ozenberger, B.3
-
2
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med 2014;370:2418-2425.
-
(2014)
N Engl J Med
, vol.370
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
3
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencingr
-
American College of Medical Genetics and Genomics Board of Directors
-
American College of Medical Genetics and Genomics Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012;14:759-761.
-
(2012)
Genet Med
, vol.14
, pp. 759-761
-
-
-
4
-
-
84920525015
-
Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness
-
e-pub ahead of print 13 August
-
Shameer K, Klee EW, Dalenberg AK, Kullo IJ. Whole exome sequencing implicates an INO80D mutation in a syndrome of aortic hypoplasia, premature atherosclerosis, and arterial stiffness. Circ Cardiovasc Genet e-pub ahead of print 13 August 2014.
-
(2014)
Circ Cardiovasc Genet
-
-
Shameer, K.1
Klee, E.W.2
Dalenberg, A.K.3
Kullo, I.J.4
-
5
-
-
84905639695
-
Next-generation sequencing identifies rare variants associated with Noonan syndrome
-
Chen PC, Yin J, Yu HW, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci USA 2014;111: 11473-11478.
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, pp. 11473-11478
-
-
Chen, P.C.1
Yin, J.2
Yu, H.W.3
-
6
-
-
84902284568
-
Mutations in EMP2 cause childhood-onset nephrotic syndrome
-
Gee HY, Ashraf S, Wan X, et al. Mutations in EMP2 cause childhood-onset nephrotic syndrome. Am J Hum Genet 2014;94:884-890.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 884-890
-
-
Gee, H.Y.1
Ashraf, S.2
Wan, X.3
-
7
-
-
79551549004
-
Novel genomic techniques open new avenues in the analysis of monogenic disorders
-
Kuhlenbaümer G, Hullmann J, Appenzeller S. Novel genomic techniques open new avenues in the analysis of monogenic disorders. Hum Mutat 2011;32: 144-151.
-
(2011)
Hum Mutat
, vol.32
, pp. 144-151
-
-
Kuhlenbaümer, G.1
Hullmann, J.2
Appenzeller, S.3
-
8
-
-
84904269535
-
Views of genetics health professionals on the return of genomic results
-
Grove ME, Wolpert MN, Cho MK, Lee SS, Ormond KE. Views of genetics health professionals on the return of genomic results. J Genet Couns 2014;23 :531-538.
-
(2014)
J Genet Couns
, vol.23
, pp. 531-538
-
-
Grove, M.E.1
Wolpert, M.N.2
Cho, M.K.3
Lee, S.S.4
Ormond, K.E.5
-
9
-
-
84911973348
-
Views of primary care providers regarding the return of genome sequencing incidental findings
-
Strong KA, Zusevics KL, Bick D, Veith R. Views of primary care providers regarding the return of genome sequencing incidental findings. Clin Genet 2014;86:461-468.
-
(2014)
Clin Genet
, vol.86
, pp. 461-468
-
-
Strong, K.A.1
Zusevics, K.L.2
Bick, D.3
Veith, R.4
-
10
-
-
84904034852
-
Attitudes of genetics professionals toward the return of incidental results from exome and wholegenome sequencing
-
Yu JH, Harrell TM, Jamal SM, Tabor HK, Bamshad MJ. Attitudes of genetics professionals toward the return of incidental results from exome and wholegenome sequencing. Am J Hum Genet 2014;95:77-84.
-
(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
-
12
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencingr
-
American College of Medical Genetics and Genomics
-
Green RC, Berg JS, Grody WW, et al.; American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565-574.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
14
-
-
84905864475
-
-
National Human Genome Research Institute Accessed 15 August 2014
-
National Human Genome Research Institute. Clinical Sequencing Exploratory Research (CSER). http://www.genome.gov/CSER. Accessed 15 August 2014.
-
Clinical Sequencing Exploratory Research (CSER)
-
-
-
15
-
-
80855138697
-
Genetics in health care: An overview of current and emerging models
-
Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N. Genetics in health care: an overview of current and emerging models. Public Health Genomics 2012;15:34-45.
-
(2012)
Public Health Genomics
, vol.15
, pp. 34-45
-
-
Battista, R.N.1
Blancquaert, I.2
Laberge, A.M.3
Van Schendel, N.4
Leduc, N.5
-
17
-
-
84874197574
-
Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
-
Lohn Z, Adam S, Birch P, Townsend A, Friedman J. Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing. Am J Med Genet A 2013;161A:542-549.
-
(2013)
Am J Med Genet A
, vol.161 A
, pp. 542-549
-
-
Lohn, Z.1
Adam, S.2
Birch, P.3
Townsend, A.4
Friedman, J.5
-
18
-
-
84881610283
-
Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: A survey study
-
Lemke AA, Bick D, Dimmock D, Simpson P, Veith R. Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study. Clin Genet 2013;84:230-236.
-
(2013)
Clin Genet
, vol.84
, pp. 230-236
-
-
Lemke, A.A.1
Bick, D.2
Dimmock, D.3
Simpson, P.4
Veith, R.5
-
19
-
-
84902267488
-
-
American College of Medical Genetics and Genomics. ACMG News Accessed 15 August 2014
-
American College of Medical Genetics and Genomics. ACMG News. ACMG Updates Recommendation on "Opt Out" for Genome Sequencing Return of Results. https://www.acmg.net/docs/Release-ACMGUpdatesRecommendations-final.pdf. Accessed 15 August 2014.
-
ACMG Updates Recommendation on "opt Out" for Genome Sequencing Return of Results
-
-
|