-
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;369:1502-11.
-
(2013)
N Engl J Med
, vol.369
, pp. 1502-1511
-
-
Yang, Y.1
Muzny, D.M.2
Reid, J.G.3
-
2
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencing
-
ACMG Board of Directors
-
ACMG Board of Directors. Points to consider in the clinical application of genomic sequencing. Genet Med 2012;14:759-61.
-
(2012)
Genet Med
, vol.14
, pp. 759-761
-
-
-
3
-
-
73149123343
-
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
-
Choi M, Scholl UI, Ji W, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009;106:19096-101.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 19096-19101
-
-
Choi, M.1
Scholl, U.I.2
Ji, W.3
-
4
-
-
79251645624
-
Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey EA, Mayer AN, Syverson GD, et al. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet Med 2011;13:255-62.
-
(2011)
Genet Med
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
-
6
-
-
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;14:51-9.
-
(2012)
Genet Med
, vol.14
, pp. 51-59
-
-
Gahl, W.A.1
Markello, T.C.2
Toro, C.3
-
7
-
-
84880547053
-
Genomics in clinical practice: Lessons from the front lines
-
Jacob HJ, Abrams K, Bick DP, et al. Genomics in clinical practice: lessons from the front lines. Sci Transl Med 2013;5(194):194cm5.
-
(2013)
Sci Transl Med
, vol.5
, Issue.194
-
-
Jacob, H.J.1
Abrams, K.2
Bick, D.P.3
-
8
-
-
84879411643
-
Sequencing studies in human genetics: Design and interpretation
-
Goldstein DB, Allen A, Keebler J, et al. Sequencing studies in human genetics: design and interpretation. Nat Rev Genet 2013;14:460-70.
-
(2013)
Nat Rev Genet
, vol.14
, pp. 460-470
-
-
Goldstein, D.B.1
Allen, A.2
Keebler, J.3
-
9
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008;10:294-300.
-
(2008)
Genet Med
, vol.10
, pp. 294-300
-
-
-
10
-
-
84885022205
-
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene
-
August 25 (Epub ahead of print)
-
Sosnay PR, Siklosi KR, Van Goor F, et al. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet 2013 August 25 (Epub ahead of print).
-
(2013)
Nat Genet
-
-
Sosnay, P.R.1
Siklosi, K.R.2
Van Goor, F.3
-
11
-
-
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;15:565-74.
-
(2013)
Genet Med
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
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