-
1
-
-
84885785987
-
Clinical whole-exome sequencing for the diagnosis of Mendelian disorders
-
Yang Y, Muzny DM, Reid JG, et al. Clinical whole-exome sequencing for the diagnosis of Mendelian disorders. N Engl J Med 2013;369(16):1502-11.
-
(2013)
N Engl J Med
, vol.369
, Issue.16
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
2
-
-
84926338859
-
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
-
PMID: 25356970
-
Farwell KD, Shahmirzadi L, El-Khechen D, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med 2014, PMID: 25356970.
-
(2014)
Genet Med
-
-
Farwell, K.D.1
Shahmirzadi, L.2
El-Khechen, D.3
-
4
-
-
84875178404
-
Technical report: ethical and policy issues in genetic testing and screening of children
-
Ross LF, Saal HM, David KL, Anderson RR. Technical report: ethical and policy issues in genetic testing and screening of children. Genet Med 2013;15(3):234-45.
-
(2013)
Genet Med
, vol.15
, Issue.3
, pp. 234-245
-
-
Ross, L.F.1
Saal, H.M.2
David, K.L.3
Anderson, R.R.4
-
5
-
-
84882254633
-
On the ethics of clinical whole genome sequencing of children
-
May T, Zusevics KL, Strong KA. On the ethics of clinical whole genome sequencing of children. Pediatrics 2013;132(2):207-9.
-
(2013)
Pediatrics
, vol.132
, Issue.2
, pp. 207-209
-
-
May, T.1
Zusevics, K.L.2
Strong, K.A.3
-
6
-
-
84880515119
-
Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
-
Allyse M, Michie M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol 2013;31(8):439-41.
-
(2013)
Trends Biotechnol
, vol.31
, Issue.8
, pp. 439-441
-
-
Allyse, M.1
Michie, M.2
-
7
-
-
84878364688
-
Patient autonomy and incidental findings in clinical genomics
-
Wolf SM, Annas GJ, Elias S. Patient autonomy and incidental findings in clinical genomics. Science 2013;340(6136):1049-50.
-
(2013)
Science
, vol.340
, Issue.6136
, pp. 1049-1050
-
-
Wolf, S.M.1
Annas, G.J.2
Elias, S.3
-
8
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15(7):565-74.
-
(2013)
Genet Med
, vol.15
, Issue.7
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
-
9
-
-
84920528362
-
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
-
ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med 2015;17(1):68-9.
-
(2015)
Genet Med
, vol.17
, Issue.1
, pp. 68-69
-
-
-
10
-
-
84904034852
-
Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing
-
Yu J-H, Harrell TM, Jamal SM, et al. Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing. Am J Hum Genet 2014;95(1):77-84.
-
(2014)
Am J Hum Genet
, vol.95
, Issue.1
, pp. 77-84
-
-
Yu, J.-H.1
Harrell, T.M.2
Jamal, S.M.3
-
11
-
-
84905915073
-
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing
-
Yu J-H, Crouch J, Jamal SM, et al. Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. Am J Med Genet A 2014;164(9):2153-60.
-
(2014)
Am J Med Genet A
, vol.164
, Issue.9
, pp. 2153-2160
-
-
Yu, J.-H.1
Crouch, J.2
Jamal, S.M.3
-
12
-
-
85028105769
-
Attitudes of African Americans toward return of results from exome and whole genome sequencing
-
Yu J-H, Crouch J, Jamal SM, et al. Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A 2013;161(5):1064-72.
-
(2013)
Am J Med Genet A
, vol.161
, Issue.5
, pp. 1064-1072
-
-
Yu, J.-H.1
Crouch, J.2
Jamal, S.M.3
-
13
-
-
84908550914
-
Public views on participating in newborn screening using genome sequencing
-
Bombard Y, Miller FA, Hayeems RZ, et al. Public views on participating in newborn screening using genome sequencing. Eur J Hum Genet 2014;22(11):1248-54.
-
(2014)
Eur J Hum Genet
, vol.22
, Issue.11
, pp. 1248-1254
-
-
Bombard, Y.1
Miller, F.A.2
Hayeems, R.Z.3
-
14
-
-
84893627397
-
Parents' interest in whole-genome sequencing of newborns
-
Goldenberg AJ, Dodson DS, Davis MM, Tarini BA. Parents' interest in whole-genome sequencing of newborns. Genet Med 2014;16(1):78-84.
-
(2014)
Genet Med
, vol.16
, Issue.1
, pp. 78-84
-
-
Goldenberg, A.J.1
Dodson, D.S.2
Davis, M.M.3
Tarini, B.A.4
-
15
-
-
84865297917
-
Prenatal whole genome sequencing: just because we can, should we?
-
Donley G, Hull SC, Berkman BE. Prenatal whole genome sequencing: just because we can, should we? Hastings Cent Rep 2012;42(4):28-40.
-
(2012)
Hastings Cent Rep
, vol.42
, Issue.4
, pp. 28-40
-
-
Donley, G.1
Hull, S.C.2
Berkman, B.E.3
-
16
-
-
84892585067
-
Prenatal whole-genome sequencing - is the quest to know a fetus's future ethical?
-
Yurkiewicz IR, Korf BR, Lehmann LS. Prenatal whole-genome sequencing - is the quest to know a fetus's future ethical? N Engl J Med 2014;370(3):195-7.
-
(2014)
N Engl J Med
, vol.370
, Issue.3
, pp. 195-197
-
-
Yurkiewicz, I.R.1
Korf, B.R.2
Lehmann, L.S.3
-
17
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencing
-
ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012;14(8):759-61.
-
(2012)
Genet Med
, vol.14
, Issue.8
, pp. 759-761
-
-
-
18
-
-
84859112155
-
Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing
-
McGillivray G, Rosenfeld JA, McKinlay Gardner RJ, Gillam LH. Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing. Prenat Diagn 2012;32(4):389-95.
-
(2012)
Prenat Diagn
, vol.32
, Issue.4
, pp. 389-395
-
-
McGillivray, G.1
Rosenfeld, J.A.2
McKinlay Gardner, R.J.3
Gillam, L.H.4
-
19
-
-
84873547792
-
Women's experiences receiving abnormal prenatal chromosomal microarray testing results
-
Bernhardt BA, Soucier D, Hanson K, et al. Women's experiences receiving abnormal prenatal chromosomal microarray testing results. Genet Med 2013;15(2):139-45.
-
(2013)
Genet Med
, vol.15
, Issue.2
, pp. 139-145
-
-
Bernhardt, B.A.1
Soucier, D.2
Hanson, K.3
-
20
-
-
84920878583
-
Prenatal exome sequencing for fetuses with structural abnormalities: the next step
-
Hillman SC, Willams D, Carss KJ, et al. Prenatal exome sequencing for fetuses with structural abnormalities: the next step. Ultrasound Obstet Gynecol 2015;45(1):4-9.
-
(2015)
Ultrasound Obstet Gynecol
, vol.45
, Issue.1
, pp. 4-9
-
-
Hillman, S.C.1
Willams, D.2
Carss, K.J.3
-
22
-
-
84943354795
-
-
[cited November 22]
-
Ambry genetics ExomeNext. Available from: http://www.ambrygen.com/exomenext [cited 2014 November 22].
-
(2014)
-
-
-
23
-
-
84943358146
-
-
[cited 22 November]
-
Baylor College of Medicine whole exome sequencing. Available from: https://www.bcm.edu/research/medical-genetics-labs/test_detail.cfm?testcode=1500 [cited 22 November 2014].
-
(2014)
-
-
-
24
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
154ra35
-
Saunders CJ, Miller NA, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4(154):154ra35.
-
(2012)
Sci Transl Med
, vol.4
, Issue.154
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
25
-
-
84943348338
-
-
Allegheny County, Pennsylvania. [updated 8 July ; cited 19 November 2014]
-
U.S. Census Bureau. Allegheny County, Pennsylvania. Available from: http://quickfacts.census.gov/qfd/states/42/42003.html [updated 8 July 2014; cited 19 November 2014].
-
(2014)
-
-
-
26
-
-
84905915073
-
Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing
-
Yu J-H, Crouch J, Jamal SM, et al. Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing. Am J Med Genet A 2014;164(9):2153-60.
-
(2014)
Am J Med Genet A
, vol.164
, Issue.9
, pp. 2153-2160
-
-
Yu, J.-H.1
Crouch, J.2
Jamal, S.M.3
-
27
-
-
84930336638
-
Parents are interested in newborn genomic testing during the early postpartum period
-
Waisbren SE, Back DK, Liu C, et al. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med 2015;17(6):501-4.
-
(2015)
Genet Med
, vol.17
, Issue.6
, pp. 501-504
-
-
Waisbren, S.E.1
Back, D.K.2
Liu, C.3
-
28
-
-
84892483688
-
Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children
-
Sapp JC, Dong D, Stark C, et al. Parental attitudes, values, and beliefs toward the return of results from exome sequencing in children. Clin Genet 2014;85(2):120-6.
-
(2014)
Clin Genet
, vol.85
, Issue.2
, pp. 120-126
-
-
Sapp, J.C.1
Dong, D.2
Stark, C.3
-
29
-
-
84879759320
-
Application of chromosomal microarray in the evaluation of abnormal prenatal findings
-
Yatsenko SA, Davis S, Hendrix NW, et al. Application of chromosomal microarray in the evaluation of abnormal prenatal findings. Clin Genet 2013;84(1):47-54.
-
(2013)
Clin Genet
, vol.84
, Issue.1
, pp. 47-54
-
-
Yatsenko, S.A.1
Davis, S.2
Hendrix, N.W.3
|