-
2
-
-
55949095205
-
Keeping up with the next generation: Massively parallel sequencing in clinical diagnostics
-
ten Bosch JR, Grody WW. Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn 2008;10:484-492.
-
(2008)
J Mol Diagn
, vol.10
, pp. 484-492
-
-
Ten Bosch, J.R.1
Grody, W.W.2
-
3
-
-
84880557325
-
Genomic medicine: A decade of successes, challenges, and opportunities
-
McCarthy JJ, McLeod HL, Ginsburg GS. Genomic medicine: a decade of successes, challenges, and opportunities. Sci Transl Med. 2013;5: 189sr184.
-
(2013)
Sci Transl Med
, vol.5
, pp. 189sr184
-
-
McCarthy, J.J.1
McLeod, H.L.2
Ginsburg, G.S.3
-
4
-
-
84867946004
-
Next-generation sequencing: Impact of exome sequencing in characterizing Mendelian disorders
-
Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet 2012;57:621-632.
-
(2012)
J Hum Genet
, vol.57
, pp. 621-632
-
-
Rabbani, B.1
Mahdieh, N.2
Hosomichi, K.3
Nakaoka, H.4
Inoue, I.5
-
5
-
-
84865020270
-
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
-
Lemke JR, Riesch E, Scheurenbrand T, et al. Targeted next generation sequencing as a diagnostic tool in epileptic disorders. Epilepsia 2012;53:1387-1398.
-
(2012)
Epilepsia
, vol.53
, pp. 1387-1398
-
-
Lemke, J.R.1
Riesch, E.2
Scheurenbrand, T.3
-
6
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey PS, Smith R, Pleasance E, et al. A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet 2009;41:535-543.
-
(2009)
Nat Genet
, vol.41
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
-
7
-
-
77956792326
-
Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: A paper from the
-
William Beaumont Hospital Symposium on Molecular Pathology
-
Voelkerding KV, Dames S, Durtschi JD. Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2010;12: 539-551.
-
(2010)
J Mol Diagn 2009
, vol.12
, pp. 539-551
-
-
Voelkerding, K.V.1
Dames, S.2
Durtschi, J.D.3
-
8
-
-
84862651279
-
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing
-
Pritchard CC, Smith C, Salipante SJ, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012;14:357-366.
-
(2012)
J Mol Diagn
, vol.14
, pp. 357-366
-
-
Pritchard, C.C.1
Smith, C.2
Salipante, S.J.3
-
9
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh T, Lee MK, Casadei S, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci USA 2010;107:12629-12633.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 12629-12633
-
-
Walsh, T.1
Lee, M.K.2
Casadei, S.3
-
10
-
-
81055126264
-
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
-
Walsh T, Casadei S, Lee MK, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 2011;108:18032-18037.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, pp. 18032-18037
-
-
Walsh, T.1
Casadei, S.2
Lee, M.K.3
-
11
-
-
84908502657
-
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
-
e-pub ahead of print 19 February 2014
-
Castera L, Krieger S, Rousselin A, et al. Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. Eur J Hum Genet 2014; e-pub ahead of print 19 February 2014.
-
(2014)
Eur J Hum Genet
-
-
Castera, L.1
Krieger, S.2
Rousselin, A.3
-
12
-
-
77955059918
-
Genetic diagnosis of familial breast cancer using clonal sequencing
-
Morgan JE, Carr IM, Sheridan E, et al. Genetic diagnosis of familial breast cancer using clonal sequencing. Hum Mutat 2010;31:484-491.
-
(2010)
Hum Mutat
, vol.31
, pp. 484-491
-
-
Morgan, J.E.1
Carr, I.M.2
Sheridan, E.3
-
13
-
-
59749085710
-
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome
-
Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Hum Mutat 2009;30:197-203.
-
(2009)
Hum Mutat
, vol.30
, pp. 197-203
-
-
Kovacs, M.E.1
Papp, J.2
Szentirmay, Z.3
Otto, S.4
Olah, E.5
-
14
-
-
58149144567
-
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 exons of TACSTD1
-
Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3 exons of TACSTD1. Nat Genet 2009;41:112-117.
-
(2009)
Nat Genet
, vol.41
, pp. 112-117
-
-
Ligtenberg, M.J.1
Kuiper, R.P.2
Chan, T.L.3
-
16
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012;491:56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
-
17
-
-
79959503826
-
The international HapMap project
-
International HapMap Consortium
-
International HapMap Consortium. The International HapMap Project. Nature 2003;426:789-796.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
-
19
-
-
77953446523
-
The human gene mutation database 2008 update
-
Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database: 2008 update. Genome Med 2009;1:13.
-
Genome Med
, vol.2009
, Issue.1
, pp. 13
-
-
Stenson, P.D.1
Mort, M.2
Ball, E.V.3
-
20
-
-
55549101314
-
IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: Recommendations for improving the interpretation of cancer susceptibility genetic test results
-
Plon SE, Eccles DM, Easton D, et al.; IARC Unclassified Genetic Variants Working Group. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008;29:1282-1291.
-
(2008)
Hum Mutat
, vol.29
, pp. 1282-1291
-
-
Plon, S.E.1
Eccles, D.M.2
Easton, D.3
-
21
-
-
42149139456
-
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
-
Richards CS, Bale S, Bellissimo DB, et al. 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
-
-
Richards, C.S.1
Bale, S.2
Bellissimo, D.B.3
-
22
-
-
0036478899
-
Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors
-
Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C->T:A mutations in colorectal tumors. Nat Genet 2002;30:227-232.
-
(2002)
Nat Genet
, vol.30
, pp. 227-232
-
-
Al-Tassan, N.1
Chmiel, N.H.2
Maynard, J.3
-
25
-
-
84876071726
-
Multiplex genetic testing for cancer susceptibility: Out on the high wire without a net?
-
Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME. Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 2013;31:1267-1270.
-
(2013)
J Clin Oncol
, vol.31
, pp. 1267-1270
-
-
Domchek, S.M.1
Bradbury, A.2
Garber, J.E.3
Offit, K.4
Robson, M.E.5
-
26
-
-
84908894406
-
The integration of next-generation sequencing panels in the clinical cancer genetics practice: An institutional experience
-
E-pub ahead of print 10 October 2013
-
Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM. The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genet Med 2013; e-pub ahead of print 10 October 2013.
-
(2013)
Genet Med
-
-
Mauer, C.B.1
Pirzadeh-Miller, S.M.2
Robinson, L.D.3
Euhus, D.M.4
-
27
-
-
84857121123
-
-
NHLBI GO Exome Sequencing Project (ESP) . Accessed June 2013
-
Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP). 2013. http://evs.gs.washington.edu/EVS/. Accessed June 2013.
-
(2013)
Exome Variant Server
-
-
-
28
-
-
84879692727
-
NSGC practice guideline: Risk assessment and genetic counseling for hereditary breast and ovarian cancer
-
Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 2013;22:155-163.
-
(2013)
J Genet Couns
, vol.22
, pp. 155-163
-
-
Berliner, J.L.1
Fay, A.M.2
Cummings, S.A.3
Burnett, B.4
Tillmanns, T.5
-
29
-
-
84857691697
-
ENIGMA. ENIGMA-evidence-based network for the interpretation of germline mutant alleles: An international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes
-
Spurdle AB, Healey S, Devereau A, et al.; ENIGMA. ENIGMA-evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat 2012;33:2-7.
-
(2012)
Hum Mutat
, vol.33
, pp. 2-7
-
-
Spurdle, A.B.1
Healey, S.2
Devereau, A.3
-
30
-
-
64849092309
-
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
-
Jones S, Hruban RH, Kamiyama M, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009;324:217.
-
(2009)
Science
, vol.324
, pp. 217
-
-
Jones, S.1
Hruban, R.H.2
Kamiyama, M.3
-
31
-
-
84863830403
-
ATM mutations in patients with hereditary pancreatic cancer
-
Roberts NJ, Jiao Y, Yu J, et al. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2012;2:41-46.
-
(2012)
Cancer Discov
, vol.2
, pp. 41-46
-
-
Roberts, N.J.1
Jiao, Y.2
Yu, J.3
-
32
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
-
Comino-Mndez I, Gracia-Aznrez FJ, Schiavi F, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011;43:663-667.
-
(2011)
Nat Genet
, vol.43
, pp. 663-667
-
-
Comino-Mndez, I.1
Gracia-Aznrez, F.J.2
Schiavi, F.3
-
33
-
-
84873096362
-
CORGI Consortium; WGS500 Consortium. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
-
Palles C, Cazier JB, Howarth KM, et al.; CORGI Consortium; WGS500 Consortium. Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 2013;45:136-144.
-
(2013)
Nat Genet
, vol.45
, pp. 136-144
-
-
Palles, C.1
Cazier, J.B.2
Howarth, K.M.3
-
34
-
-
85205857308
-
-
Association for Molecular Pathology et al v. Myriad Genetics, et al. 569 U. S.-(2013)
-
Association for Molecular Pathology et al. v. Myriad Genetics, et al. 569 U. S.-(2013); 2013.
-
(2013)
-
-
-
35
-
-
84939251973
-
Panel-based testing for inherited colorectal cancer: A descriptive study of clinical testing performed by a US laboratory
-
E-pub ahead of print 9 February 2014
-
Cragun D, Radford C, Dolinsky JS, Caldwell M, Chao E, Pal T. Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a U.S. laboratory. Clin Genet 2014; e-pub ahead of print 9 February 2014.
-
(2014)
Clin Genet
-
-
Cragun, D.1
Radford, C.2
Dolinsky, J.S.3
Caldwell, M.4
Chao, E.5
Pal, T.6
-
36
-
-
27744511296
-
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis
-
Sweet K, Willis J, Zhou XP, et al. Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005;294:2465-2473.
-
(2005)
JAMA
, vol.294
, pp. 2465-2473
-
-
Sweet, K.1
Willis, J.2
Zhou, X.P.3
-
37
-
-
73949154143
-
Colorectal cancer due to deficiency in DNA mismatch repair function: A review
-
Bellizzi AM, Frankel WL. Colorectal cancer due to deficiency in DNA mismatch repair function: a review. Adv Anat Pathol 2009;16: 405-417.
-
(2009)
Adv Anat Pathol
, vol.16
, pp. 405-417
-
-
Bellizzi, A.M.1
Frankel, W.L.2
-
38
-
-
47649123223
-
Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome Part i the utility of immunohistochemistry
-
Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn 2008;10:293-300.
-
(2008)
J Mol Diagn
, vol.10
, pp. 293-300
-
-
Shia, J.1
|