-
1
-
-
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
-
-
-
2
-
-
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
-
3
-
-
84939635642
-
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions
-
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 2015;17(7):578-86.
-
(2015)
Genet Med
, vol.17
, Issue.7
, pp. 578-586
-
-
Farwell, K.D.1
Shahmirzadi, L.2
El-Khechen, D.3
-
4
-
-
84870549609
-
Chromosomal microarray versus karyotyping for prenatal diagnosis
-
Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012;367(23):2175-84.
-
(2012)
N Engl J Med
, vol.367
, Issue.23
, pp. 2175-2184
-
-
Wapner, R.J.1
Martin, C.L.2
Levy, B.3
-
5
-
-
84898771552
-
Offering prenatal diagnostic tests: European guidelines for clinical practice
-
Skirton H, Goldsmith L, Jackson L, et al. Offering prenatal diagnostic tests: European guidelines for clinical practice. Eur J Hum Genet 2014;22(5):580-6.
-
(2014)
Eur J Hum Genet
, vol.22
, Issue.5
, pp. 580-586
-
-
Skirton, H.1
Goldsmith, L.2
Jackson, L.3
-
6
-
-
84866895022
-
Detection rates of clinically significant genomic alterations by microarrayanalysis for specific anomalies detected by ultrasound
-
Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarrayanalysis for specific anomalies detected by ultrasound. Prenat Diagn 2012;32(10):986-95.
-
(2012)
Prenat Diagn
, vol.32
, Issue.10
, pp. 986-995
-
-
Shaffer, L.G.1
Rosenfeld, J.A.2
Dabell, M.P.3
-
7
-
-
84889598725
-
The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature
-
Callaway JL, Shaffer LG, Chitty LS, et al. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenat Diagn 2013;33(12):1119-23.
-
(2013)
Prenat Diagn
, vol.33
, Issue.12
, pp. 1119-1123
-
-
Callaway, J.L.1
Shaffer, L.G.2
Chitty, L.S.3
-
8
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312(18):1870-9.
-
(2014)
JAMA
, vol.312
, Issue.18
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
-
9
-
-
85028106080
-
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
-
Gahl WA, Markello TC, Toro C, et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet Med 2012;14(1):51-9.
-
(2012)
Genet Med
, vol.14
, Issue.1
, pp. 51-59
-
-
Gahl, W.A.1
Markello, T.C.2
Toro, C.3
-
10
-
-
84924666082
-
Large-scale discovery of novel genetic causes of developmental disorders
-
Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015;519(7542):223-8.
-
(2015)
Nature
, vol.519
, Issue.7542
, pp. 223-228
-
-
-
11
-
-
84943233998
-
Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes
-
[Epub ahead of print].
-
Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes. Prenat Diagn 2014. DOI:10.1002/pd.4464 [Epub ahead of print].
-
(2014)
Prenat Diagn
-
-
Filges, I.1
Friedman, J.M.2
-
12
-
-
84901360405
-
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound
-
Carss KJ, Hillman SC, Parthiban V, et al.. Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. Hum Mol Genet 2014;23(12):3269-77.
-
(2014)
Hum Mol Genet
, vol.23
, Issue.12
, pp. 3269-3277
-
-
Carss, K.J.1
Hillman, S.C.2
Parthiban, V.3
-
13
-
-
84943362406
-
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
-
Drury S, Williams H, Trump N, et al. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenat Diagn 2015; 35(10):1010-7.
-
(2015)
Prenat Diagn
, vol.35
, Issue.10
, pp. 1010-1017
-
-
Drury, S.1
Williams, H.2
Trump, N.3
-
14
-
-
84867214350
-
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units
-
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):154ra135.
-
(2012)
Sci Transl Med
, vol.4
, Issue.154
, pp. 154ra135
-
-
Saunders, C.J.1
Miller, N.A.2
Soden, S.E.3
-
15
-
-
84880535720
-
American College of Medical Genetics and Genomics. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
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(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
-
16
-
-
84859577332
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing
-
Green RC, Berg JS, Berry GT, et al. Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 2012;14(4):405-10.
-
(2012)
Genet Med
, vol.14
, Issue.4
, pp. 405-410
-
-
Green, R.C.1
Berg, J.S.2
Berry, G.T.3
-
17
-
-
84943359380
-
Prenatal whole-exome sequencing: parental attitudes
-
[Epub ahead of print].
-
Kalynchuk EJ, Althouse A, Parker LS, et al. Prenatal whole-exome sequencing: parental attitudes. Prenat Diagn 2015. DOI:10.1002/pd.4635[Epub ahead of print].
-
(2015)
Prenat Diagn
-
-
Kalynchuk, E.J.1
Althouse, A.2
Parker, L.S.3
-
18
-
-
84943262415
-
Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice
-
[Epub ahead of print].
-
Westerfield LE, Stover SR, Mathur VS, et al. Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn 2015. DOI:10.1002/pd.4674[Epub ahead of print].
-
(2015)
Prenat Diagn
-
-
Westerfield, L.E.1
Stover, S.R.2
Mathur, V.S.3
-
19
-
-
84945477018
-
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies
-
[Epub ahead of print].
-
Alamillo CL, Powis Z, Farwell K, et al. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. Prenat Diagn 2015. DOI:10.1002/pd.4648[Epub ahead of print].
-
(2015)
Prenat Diagn
-
-
Alamillo, C.L.1
Powis, Z.2
Farwell, 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
-
21
-
-
84904431661
-
The challenge for the next generation of medical geneticists
-
Frebourg T. The challenge for the next generation of medical geneticists. Hum Mutat 2014;35(8):909-11.
-
(2014)
Hum Mutat
, vol.35
, Issue.8
, pp. 909-911
-
-
Frebourg, T.1
-
22
-
-
84919865470
-
Next generation sequencing and the future of genetic diagnosis
-
Lohmann K, Klein C. Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 2014;11(4):699-707.
-
(2014)
Neurotherapeutics
, vol.11
, Issue.4
, pp. 699-707
-
-
Lohmann, K.1
Klein, C.2
-
23
-
-
84930351608
-
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
-
Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing. Genet Med 2015;17(6):444-51.
-
(2015)
Genet Med
, vol.17
, Issue.6
, pp. 444-451
-
-
Xue, Y.1
Ankala, A.2
Wilcox, W.R.3
Hegde, M.R.4
-
24
-
-
84908010472
-
Managing the ethical challenges of next-generation sequencing in genomic medicine
-
Clarke AJ. Managing the ethical challenges of next-generation sequencing in genomic medicine. Br Med Bull 2014;111(1):17-30.
-
(2014)
Br Med Bull
, vol.111
, Issue.1
, pp. 17-30
-
-
Clarke, A.J.1
-
25
-
-
84904252658
-
Incidental findings from clinical genome-wide sequencing: a review
-
Lohn Z, Adam S, Birch PH, Friedman JM. Incidental findings from clinical genome-wide sequencing: a review. J Genet Couns 2014;23(4):463-73.
-
(2014)
J Genet Couns
, vol.23
, Issue.4
, pp. 463-473
-
-
Lohn, Z.1
Adam, S.2
Birch, P.H.3
Friedman, J.M.4
-
26
-
-
84936405508
-
Counseling challenges with variants of uncertain significance and incidental findings in prenatal genetic screening and diagnosis
-
Westerfield L, Darilek S, van den Veyver IB. Counseling challenges with variants of uncertain significance and incidental findings in prenatal genetic screening and diagnosis. J Clin Med 2014;3(3):1018-32.
-
(2014)
J Clin Med
, vol.3
, Issue.3
, pp. 1018-1032
-
-
Westerfield, L.1
Darilek, S.2
van den Veyver, I.B.3
-
27
-
-
84902578876
-
Diagnostic clinical genome and exome sequencing
-
Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med 2014;370(25):2418-25.
-
(2014)
N Engl J Med
, vol.370
, Issue.25
, pp. 2418-2425
-
-
Biesecker, L.G.1
Green, R.C.2
-
28
-
-
84943559303
-
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval
-
[Epub ahead of print].
-
Ghouse J, Have CT, Weeke P, et al. Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J 2015. DOI:10.1093/eurheartj/ehv297[Epub ahead of print].
-
(2015)
Eur Heart J
-
-
Ghouse, J.1
Have, C.T.2
Weeke, P.3
-
29
-
-
84924767310
-
Practical considerations in the clinical application of whole-exome sequencing
-
[Epub ahead of print]
-
Shashi V, McConkie-Rosell A, Schoch K, et al. Practical considerations in the clinical application of whole-exome sequencing. Clin Genet 2015. DOI:10.1111/cge.12569[Epub ahead of print].
-
(2015)
Clin Genet
-
-
Shashi, V.1
McConkie-Rosell, A.2
Schoch, K.3
|