-
2
-
-
85011682201
-
-
accessed on 9 January 2016)
-
Next-Gen-Field-Guid. Available online: http://www.molecularecologist.com/next-gen-fieldguide-2014 (accessed on 9 January 2016).
-
-
-
-
3
-
-
85051891134
-
-
accessed on 10 January 2017)
-
Illumina®. Available online: http://www.illumina.com (accessed on 10 January 2017).
-
-
-
-
4
-
-
85051885351
-
-
accessed on 7 November 2016)
-
Ion-Torrent®. Available online: http://www.thermofisher.com (accessed on 7 November 2016).
-
-
-
-
5
-
-
85051892503
-
-
accessed on 11 November 2016)
-
PacBio®. Available online: http://www.pacb.com/ (accessed on 11 November 2016).
-
-
-
-
6
-
-
85051890457
-
-
accessed on 11 November 2016)
-
Roche®. Available online: http://www.roche.com/ (accessed on 11 November 2016).
-
-
-
-
7
-
-
85051893740
-
-
accessed on 11 November 2016)
-
Nanopore®. Available online: https://www.nanoporetech.com/ (accessed on 11 November 2016).
-
-
-
-
8
-
-
85011681457
-
-
accessed on 10 January 2017)
-
GeneReader. Available online: https://www.qiagen.com/nl/resources/technologies/ngs/ (accessed on 10 January 2017).
-
-
-
-
9
-
-
85051895943
-
-
(accessed on 10 December 2016)
-
X-Genomics®. Available online: http://www.10xgenomics.com/technology/ (accessed on 10 December 2016).
-
-
-
-
10
-
-
79954604151
-
Hybrid Capture and Next-Generation Sequencing Identify Viral Integration Sites from Formalin-Fixed, Paraffin-Embedded Tissue
-
Duncavage, E.J., Magrini, V., Becker, N., Armstrong, J.R., Demeter, R.T., Wylie, T., Abel, H.J., Pfeifer, J.D. Hybrid Capture and Next-Generation Sequencing Identify Viral Integration Sites from Formalin-Fixed, Paraffin-Embedded Tissue. J. Mol. Diagn. 2011, 13, 325-333.
-
(2011)
J. Mol. Diagn
, vol.13
, pp. 325-333
-
-
Duncavage, E.J.1
Magrini, V.2
Becker, N.3
Armstrong, J.R.4
Demeter, R.T.5
Wylie, T.6
Abel, H.J.7
Pfeifer, J.D.8
-
11
-
-
84968903135
-
Coming of age: Ten years of next-generation sequencing technologies
-
Goodwin, S., McPherson, J.D., McCombie, W.R. Coming of age: Ten years of next-generation sequencing technologies. Nat. Rev. Genet. 2016, 17, 333-351.
-
(2016)
Nat. Rev. Genet
, vol.17
, pp. 333-351
-
-
Goodwin, S.1
McPherson, J.D.2
McCombie, W.R.3
-
13
-
-
85051890123
-
-
accessed on 11 November 2016)
-
RainDance®. Available online: http://www.raindancetech.com/ (accessed on 11 November 2016).
-
-
-
-
14
-
-
84963686130
-
Molecular Inversion Probes for targeted resequencing in non-model organisms
-
Niedzicka, M., Fijarczyk, A., Dudek, K., Stuglik, M., Babik, W. Molecular Inversion Probes for targeted resequencing in non-model organisms. Sci. Rep. 2016, 6, 24051, doi:10.1038/srep24051.
-
(2016)
Sci. Rep
, vol.6
, pp. 24051
-
-
Niedzicka, M.1
Fijarczyk, A.2
Dudek, K.3
Stuglik, M.4
Babik, W.5
-
15
-
-
84907500717
-
Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing
-
Bao, R., Huang, L., Andrade, J., Tan, W., Kibbe, W.A., Jiang, H., Feng, G. Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing. Cancer Inform. 2014, 13, 67-82.
-
(2014)
Cancer Inform
, vol.13
, pp. 67-82
-
-
Bao, R.1
Huang, L.2
Rade, J.3
Tan, W.4
Kibbe, W.A.5
Jiang, H.6
Feng, G.7
-
16
-
-
84892422804
-
Sequencing quality assessment tools to enable data-driven informatics for high throughput genomics
-
Leggett, R.M., Ramirez-Gonzalez, R.H., Clavijo, B.J., Waite, D., Davey, R.P. Sequencing quality assessment tools to enable data-driven informatics for high throughput genomics. Front. Genet. 2013, 4, 288, doi:10.3389/fgene.2013.00288.
-
(2013)
Front. Genet
, vol.4
, pp. 288
-
-
Leggett, R.M.1
Ramirez-Gonzalez, R.H.2
Clavijo, B.J.3
Waite, D.4
Davey, R.P.5
-
17
-
-
84911882712
-
A field guide to whole-genome sequencing, assembly and annotation
-
Ekblom, R., Wolf, J.B. A field guide to whole-genome sequencing, assembly and annotation. Evol. Appl. 2014, 7, 1026-1042.
-
(2014)
Evol. Appl
, vol.7
, pp. 1026-1042
-
-
Ekblom, R.1
Wolf, J.B.2
-
18
-
-
84899585223
-
Whole genome sequencing as a diagnostic test: Challenges and opportunities
-
Chrystoja, C.C., Diamandis, E.P. Whole genome sequencing as a diagnostic test: Challenges and opportunities. Clin. Chem. 2014, 60, 724-733.
-
(2014)
Clin. Chem.
, vol.60
, pp. 724-733
-
-
Chrystoja, C.C.1
Diamandis, E.P.2
-
19
-
-
0036079158
-
The human genome browser at UCSC
-
Kent, W.J., Sugnet, C.W., Furey, T.S., Roskin, K.M., Pringle, T.H., Zahler, A.M., Haussler, D. The human genome browser at UCSC. Genome Res. 2002, 12, 996-1006.
-
(2002)
Genome Res
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
20
-
-
85011676494
-
-
accessed on 10 November 2016)
-
OMIM. Available online: http://omim/org/ (accessed on 10 November 2016).
-
-
-
-
21
-
-
79954997174
-
LOVD v.2.0: The next generation in gene variant databases
-
Fokkema, I.F., Taschner, P.E., Schaafsma, G.C., Celli, J., Laros, J.F., den Dunnen, J.T. LOVD v.2.0: The next generation in gene variant databases. Hum. Mutat. 2011, 32, 557-563.
-
(2011)
Hum. Mutat
, vol.32
, pp. 557-563
-
-
Fokkema, I.F.1
Taschner, P.E.2
Schaafsma, G.C.3
Celli, J.4
Laros, J.F.5
Den Dunnen, J.T.6
-
22
-
-
84977078618
-
Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics
-
Publisher: Association for Clinical Genetic Science, city: Birmingham, country: United Kingdom
-
Wallis, Y., Payne, S., McAnulty, C., Bodmer, D., Sister-mans, E., Robertson, K., Moore, D., Abbs, S., Deans, Z., Devereau, A. Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics. In Association for Clinical Genetic Science & Dutch Society of Clinical Genetic Laboratory Specialists, Publisher: Association for Clinical Genetic Science, city: Birmingham, country: United Kingdom, 2013, pp. 1-16.
-
(2013)
Association for Clinical Genetic Science & Dutch Society of Clinical Genetic Laboratory Specialists
, pp. 1-16
-
-
Wallis, Y.1
Payne, S.2
McAnulty, C.3
Bodmer, D.4
Sister-Mans, E.5
Robertson, K.6
Moore, D.7
Abbs, S.8
Deans, Z.9
Devereau, A.10
-
23
-
-
77955246609
-
Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics
-
Hoppman-Chaney, N., Peterson, L.M., Klee, E.W., Middha, S., Courteau, L.K., Ferber, M.J. Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. Clin. Chem. 2010, 56, 1297-1306.
-
(2010)
Clin. Chem.
, vol.56
, pp. 1297-1306
-
-
Hoppman-Chaney, N.1
Peterson, L.M.2
Klee, E.W.3
Middha, S.4
Courteau, L.K.5
Ferber, M.J.6
-
24
-
-
77955439715
-
Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
-
Walsh, T., Lee, M.K., Casadei, S., Thornton, A.M., Stray, S.M., Pennil, C., Nord, A.S., Mandell, J.B., Swisher, E.M., King, M.C. 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
Thornton, A.M.4
Stray, S.M.5
Pennil, C.6
Nord, A.S.7
Mandell, J.B.8
Swisher, E.M.9
King, M.C.10
-
25
-
-
81055126264
-
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing
-
Walsh, T., Casadei, S., Lee, M.K., Pennil, C.C., Nord, A.S., Thornton, A.M., Roeb, W., Agnew, K.J., Stray, S.M., Wickramanayake, A., 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
Pennil, C.C.4
Nord, A.S.5
Thornton, A.M.6
Roeb, W.7
Agnew, K.J.8
Stray, S.M.9
Wickramanayake, A.10
-
26
-
-
85011714423
-
-
accessed on 7 November 2016)
-
BROCA. Available online: http://www.tests.labmed.washington.edu/BROCA (accessed on 7 November 2016).
-
-
-
-
27
-
-
84862651279
-
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing
-
Pritchard, C.C., Smith, C., Salipante, S.J., Lee, M.K., Thornton, A.M., Nord, A.S., Gulden, C., Kupfer, S.S., Swisher, E.M., Bennett, R.L., 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
Lee, M.K.4
Thornton, A.M.5
Nord, A.S.6
Gulden, C.7
Kupfer, S.S.8
Swisher, E.M.9
Bennett, R.L.10
-
28
-
-
85011651173
-
-
accessed on 4 November 2016)
-
ColoSeq. Available online: http://www.tests.labmed.washington.edu/COLOSEQ (accessed on 4 November 2016).
-
-
-
-
29
-
-
84908502657
-
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
-
Castera, L., Krieger, S., Rousselin, A., Legros, A., Baumann, J.J., Bruet, O., Brault, B., Fouillet, R., Goardon, N., Letac, O., 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, 22, 1305-1313.
-
(2014)
Eur. J. Hum. Genet
, vol.22
, pp. 1305-1313
-
-
Castera, L.1
Krieger, S.2
Rousselin, A.3
Legros, A.4
Baumann, J.J.5
Bruet, O.6
Brault, B.7
Fouillet, R.8
Goardon, N.9
Letac, O.10
-
30
-
-
84906226271
-
Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data
-
Cheng, D.T., Cheng, J., Mitchell, T.N., Syed, A., Zehir, A., Mensah, N.Y., Oultache, A., Nafa, K., Levine, R.L., Arcila, M.E., et al. Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data. J. Mol. Diagn. 2014, 16, 504-518.
-
(2014)
J. Mol. Diagn
, vol.16
, pp. 504-518
-
-
Cheng, D.T.1
Cheng, J.2
Mitchell, T.N.3
Syed, A.4
Zehir, A.5
Mensah, N.Y.6
Oultache, A.7
Nafa, K.8
Levine, R.L.9
Arcila, M.E.10
-
31
-
-
84908881428
-
Utilization of multigene panels in hereditary cancer predisposition testing: Analysis of more than 2,000 patients. Genet
-
LaDuca, H., Stuenkel, A.J., Dolinsky, J.S., Keiles, S., Tandy, S., Pesaran, T., Chen, E., Gau, C.L., Palmaer, E., Shoaepour, K., et al. Utilization of multigene panels in hereditary cancer predisposition testing: Analysis of more than 2,000 patients. Genet. Med. 2014, 16, 830-837.
-
(2014)
Med
, vol.16
, pp. 830-837
-
-
Laduca, H.1
Stuenkel, A.J.2
Dolinsky, J.S.3
Keiles, S.4
Tandy, S.5
Pesaran, T.6
Chen, E.7
Gau, C.L.8
Palmaer, E.9
Shoaepour, K.10
-
32
-
-
85011714357
-
-
Ambry-Genetics, accessed on 7 November 2016)
-
Ambry-Genetics. Available online: http://www.ambrygen.com (accessed on 7 November 2016).
-
-
-
-
33
-
-
84939251973
-
Panel-based testing for inherited colorectal cancer: A descriptive study of clinical testing performed by a US laboratory
-
Cragun, D., Radford, C., Dolinsky, J.S., Caldwell, M., Chao, E., Pal, T. Panel-based testing for inherited colorectal cancer: A descriptive study of clinical testing performed by a US laboratory. Clin. Genet. 2014, 86, 510-520.
-
(2014)
Clin. Genet
, vol.86
, pp. 510-520
-
-
Cragun, D.1
Radford, C.2
Dolinsky, J.S.3
Caldwell, M.4
Chao, E.5
Pal, T.6
-
34
-
-
84929942719
-
Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2
-
Minion, L.E., Dolinsky, J.S., Chase, D.M., Dunlop, C.L., Chao, E.C., Monk, B.J. Hereditary predisposition to ovarian cancer, looking beyond BRCA1/BRCA2. Gynecol. Oncol. 2015, 137, 86-92.
-
(2015)
Gynecol. Oncol
, vol.137
, pp. 86-92
-
-
Minion, L.E.1
Dolinsky, J.S.2
Chase, D.M.3
Dunlop, C.L.4
Chao, E.C.5
Monk, B.J.6
-
35
-
-
85011643154
-
-
Myriad-Genetics, accessed on 11 November 2016)
-
Myriad-Genetics. Available online: http://www.myriadpro.com (accessed on 11 November 2016).
-
-
-
-
36
-
-
84926610163
-
Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk
-
Judkins, T., Leclair, B., Bowles, K., Gutin, N., Trost, J., McCulloch, J., Bhatnagar, S., Murray, A., Craft, J., Wardell, B., et al. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk. BMC Cancer 2015, 15, 215, doi:10.1186/s12885-015-1224-y.
-
(2015)
BMC Cancer
, vol.15
, pp. 215
-
-
Judkins, T.1
Leclair, B.2
Bowles, K.3
Gutin, N.4
Trost, J.5
McCulloch, J.6
Bhatnagar, S.7
Murray, A.8
Craft, J.9
Wardell, B.10
-
37
-
-
84939839583
-
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome
-
Yurgelun, M.B., Allen, B., Kaldate, R.R., Bowles, K.R., Judkins, T., Kaushik, P., Roa, B.B., Wenstrup, R.J., Hartman, A.R., Syngal, S. Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome. Gastroenterology 2015, 149, 604-613.
-
(2015)
Gastroenterology
, vol.149
, pp. 604-613
-
-
Yurgelun, M.B.1
Allen, B.2
Kaldate, R.R.3
Bowles, K.R.4
Judkins, T.5
Kaushik, P.6
Roa, B.B.7
Wenstrup, R.J.8
Hartman, A.R.9
Syngal, S.10
-
38
-
-
84918798338
-
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel
-
Tung, N., Battelli, C., Allen, B., Kaldate, R., Bhatnagar, S., Bowles, K., Timms, K., Garber, J.E., Herold, C., Ellisen, L., et al. Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 2015, 121, 25-33.
-
(2015)
Cancer
, vol.121
, pp. 25-33
-
-
Tung, N.1
Battelli, C.2
Allen, B.3
Kaldate, R.4
Bhatnagar, S.5
Bowles, K.6
Timms, K.7
Garber, J.E.8
Herold, C.9
Ellisen, L.10
-
39
-
-
84931008192
-
HBOC multi-gene panel testing: Comparison of two sequencing centers
-
Schroeder, C., Faust, U., Sturm, M., Hackmann, K., Grundmann, K., Harmuth, F., Bosse, K., Kehrer, M., Benkert, T., Klink, B., et al. HBOC multi-gene panel testing: Comparison of two sequencing centers. Breast Cancer Res. Treat. 2015, 152, 129-136.
-
(2015)
Breast Cancer Res. Treat
, vol.152
, pp. 129-136
-
-
Schroeder, C.1
Faust, U.2
Sturm, M.3
Hackmann, K.4
Grundmann, K.5
Harmuth, F.6
Bosse, K.7
Kehrer, M.8
Benkert, T.9
Klink, B.10
-
40
-
-
84940705329
-
Detection of novel germline mutations for breast cancer in non-BRCA1/2 families
-
Aloraifi, F., McDevitt, T., Martiniano, R., McGreevy, J., McLaughlin, R., Egan, C.M., Cody, N., Meany, M., Kenny, E., Green, A.J., et al. Detection of novel germline mutations for breast cancer in non-BRCA1/2 families. FEBS J. 2015, 282, 3424-3437.
-
(2015)
FEBS J
, vol.282
, pp. 3424-3437
-
-
Aloraifi, F.1
McDevitt, T.2
Martiniano, R.3
McGreevy, J.4
McLaughlin, R.5
Egan, C.M.6
Cody, N.7
Meany, M.8
Kenny, E.9
Green, A.J.10
-
41
-
-
85011651911
-
-
Invitae, accessed on 11 November 2016)
-
Invitae. Available online: http://www.invitae.com (accessed on 11 November 2016).
-
-
-
-
42
-
-
84952642532
-
A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients
-
Lincoln, S.E., Kobayashi, Y., Anderson, M.J., Yang, S., Desmond, A.J., Mills, M.A., Nilsen, G.B., Jacobs, K.B., Monzon, F.A., Kurian, A.W., et al. A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients. J. Mol. Diagn. 2015, 17, 533-544.
-
(2015)
J. Mol. Diagn
, vol.17
, pp. 533-544
-
-
Lincoln, S.E.1
Kobayashi, Y.2
Erson, M.J.3
Yang, S.4
Desmond, A.J.5
Mills, M.A.6
Nilsen, G.B.7
Jacobs, K.B.8
Monzon, F.A.9
Kurian, A.W.10
-
43
-
-
85011635353
-
-
accessed on 11 November 2016)
-
Emory-Genetics-Laboratory. Available online: http://www.geneticslab.emory.edu/ (accessed on 11 November 2016).
-
-
-
-
44
-
-
85011691507
-
-
GENE-DX, accessed on 11 November 2016)
-
GENE-DX. Available online: http://www.http://www.genedx.com (accessed on 11 November 2016).
-
-
-
-
45
-
-
84981169037
-
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
-
Susswein, L.R., Marshall, M.L., Nusbaum, R., Vogel Postula, K.J., Weissman, S.M., Yackowski, L., Vaccari, E.M., Bissonnette, J., Booker, J.K., Cremona, M.L., et al. Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet. Med. 2016, 18, 823-832.
-
(2016)
Genet. Med
, vol.18
, pp. 823-832
-
-
Susswein, L.R.1
Marshall, M.L.2
Nusbaum, R.3
Vogel Postula, K.J.4
Weissman, S.M.5
Yackowski, L.6
Vaccari, E.M.7
Bissonnette, J.8
Booker, J.K.9
Cremona, M.L.10
-
46
-
-
85011656500
-
-
accessed on 11 November 2016)
-
Fulgent-Diagnostics. Available online: http://www.fulgentgenetics.com (accessed on 11 November 2016).
-
-
-
-
47
-
-
85011656503
-
-
accessed on 7 November 2016)
-
CentoGene. Available online: http://www.centogene.com (accessed on 7 November 2016).
-
-
-
-
48
-
-
17244373777
-
Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy
-
Farmer, H., McCabe, N., Lord, C.J., Tutt, A.N., Johnson, D.A., Richardson, T.B., Santarosa, M., Dillon, K.J., Hickson, I., Knights, C., et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature 2005, 434, 917-921.
-
(2005)
Nature
, vol.434
, pp. 917-921
-
-
Farmer, H.1
McCabe, N.2
Lord, C.J.3
Tutt, A.N.4
Johnson, D.A.5
Richardson, T.B.6
Santarosa, M.7
Dillon, K.J.8
Hickson, I.9
Knights, C.10
-
49
-
-
33746491583
-
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat
-
Renwick, A., Thompson, D., Seal, S., Kelly, P., Chagtai, T., Ahmed, M., North, B., Jayatilake, H., Barfoot, R., Spanova, K., et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat. Genet. 2006, 38, 873-875.
-
(2006)
Genet
, vol.38
, pp. 873-875
-
-
Renwick, A.1
Thompson, D.2
Seal, S.3
Kelly, P.4
Chagtai, T.5
Ahmed, M.6
North, B.7
Jayatilake, H.8
Barfoot, R.9
Spanova, K.10
-
50
-
-
33846625493
-
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
-
Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A., Reid, S., Spanova, K., Barfoot, R., Chagtai, T., et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat. Genet. 2007, 39, 165-167.
-
(2007)
Nat. Genet
, vol.39
, pp. 165-167
-
-
Rahman, N.1
Seal, S.2
Thompson, D.3
Kelly, P.4
Renwick, A.5
Elliott, A.6
Reid, S.7
Spanova, K.8
Barfoot, R.9
Chagtai, T.10
-
51
-
-
84875703379
-
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
-
Michailidou, K., Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R.L., Schmidt, M.K., Chang-Claude, J., Bojesen, S.E., Bolla, M.K., et al. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat. Genet. 2013, 45, 353-361.
-
(2013)
Nat. Genet
, vol.45
, pp. 353-361
-
-
Michailidou, K.1
Hall, P.2
Gonzalez-Neira, A.3
Ghoussaini, M.4
Dennis, J.5
Milne, R.L.6
Schmidt, M.K.7
Chang-Claude, J.8
Bojesen, S.E.9
Bolla, M.K.10
-
52
-
-
84875720353
-
Turning of COGS moves forward findings for hormonally mediated cancers
-
Sakoda, L.C., Jorgenson, E., Witte, J.S. Turning of COGS moves forward findings for hormonally mediated cancers. Nat. Genet. 2013, 45, 345-348.
-
(2013)
Nat. Genet
, vol.45
, pp. 345-348
-
-
Sakoda, L.C.1
Jorgenson, E.2
Witte, J.S.3
-
53
-
-
84862776961
-
Genome-wide association analysis identifies three new breast cancer susceptibility loci
-
Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M.K., Luccarini, C., et al. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat. Genet. 2012, 44, 312-318.
-
(2012)
Nat. Genet
, vol.44
, pp. 312-318
-
-
Ghoussaini, M.1
Fletcher, O.2
Michailidou, K.3
Turnbull, C.4
Schmidt, M.K.5
Dicks, E.6
Dennis, J.7
Wang, Q.8
Humphreys, M.K.9
Luccarini, C.10
-
54
-
-
56749176944
-
Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
-
Study, C., Houlston, R.S., Webb, E., Broderick, P., Pittman, A.M., di Bernardo, M.C., Lubbe, S., Chandler, I., Vijayakrishnan, J., Sullivan, K., et al. Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer. Nat. Genet. 2008, 40, 1426-1435.
-
(2008)
Nat. Genet
, vol.40
, pp. 1426-1435
-
-
Study, C.1
Houlston, R.S.2
Webb, E.3
Broderick, P.4
Pittman, A.M.5
Di Bernardo, M.C.6
Lubbe, S.7
Chandler, I.8
Vijayakrishnan, J.9
Sullivan, K.10
-
55
-
-
84951062842
-
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients
-
Jori, B., Kamps, R., Xanthoulea, S., Delvoux, B., Blok, M.J., van de Vijver, K.K., de Koning, B., Oei, F.T., Tops, C.M., Speel, E.J., et al. Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients. Oncotarget 2015, 6, 41108-41122.
-
(2015)
Oncotarget
, vol.6
, pp. 41108-41122
-
-
Jori, B.1
Kamps, R.2
Xanthoulea, S.3
Delvoux, B.4
Blok, M.J.5
Van De Vijver, K.K.6
De Koning, B.7
Oei, F.T.8
Tops, C.M.9
Speel, E.J.10
-
56
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio, T.A., Collins, F.S., Cox, N.J., Goldstein, D.B., Hindorff, L.A., Hunter, D.J., McCarthy, M.I., Ramos, E.M., Cardon, L.R., Chakravarti, A., et al. Finding the missing heritability of complex diseases. Nature 2009, 461, 747-753.
-
(2009)
Nature
, vol.461
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
McCarthy, M.I.7
Ramos, E.M.8
Cardon, L.R.9
Chakravarti, A.10
-
57
-
-
62449249871
-
Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations
-
Gonzalez, K.D., Noltner, K.A., Buzin, C.H., Gu, D., Wen-Fong, C.Y., Nguyen, V.Q., Han, J.H., Lowstuter, K., Longmate, J., Sommer, S.S., et al. Beyond Li Fraumeni Syndrome: Clinical characteristics of families with p53 germline mutations. J. Clin. Oncol. 2009, 27, 1250-1256.
-
(2009)
J. Clin. Oncol
, vol.27
, pp. 1250-1256
-
-
Gonzalez, K.D.1
Noltner, K.A.2
Buzin, C.H.3
Gu, D.4
Wen-Fong, C.Y.5
Nguyen, V.Q.6
Han, J.H.7
Lowstuter, K.8
Longmate, J.9
Sommer, S.S.10
-
58
-
-
33744782567
-
Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
-
Hearle, N., Schumacher, V., Menko, F.H., Olschwang, S., Boardman, L.A., Gille, J.J., Keller, J.J., Westerman, A.M., Scott, R.J., Lim, W., et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin. Cancer Res. 2006, 12, 3209-3215.
-
(2006)
Clin. Cancer Res
, vol.12
, pp. 3209-3215
-
-
Hearle, N.1
Schumacher, V.2
Menko, F.H.3
Olschwang, S.4
Boardman, L.A.5
Gille, J.J.6
Keller, J.J.7
Westerman, A.M.8
Scott, R.J.9
Lim, W.10
-
59
-
-
79955419172
-
Genetic variants associated with breast-cancer risk: Comprehensive research synopsis, meta-analysis, and epidemiological evidence
-
Zhang, B., Beeghly-Fadiel, A., Long, J., Zheng, W. Genetic variants associated with breast-cancer risk: Comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol. 2011, 12, 477-488.
-
(2011)
Lancet Oncol.
, vol.12
, pp. 477-488
-
-
Zhang, B.1
Beeghly-Fadiel, A.2
Long, J.3
Zheng, W.4
-
60
-
-
79958228206
-
Genetic polymorphisms and breast cancer risk: Evidence from meta-analyses, pooled analyses, and genome-wide association studies
-
Peng, S., Lu, B., Ruan, W., Zhu, Y., Sheng, H., Lai, M. Genetic polymorphisms and breast cancer risk: Evidence from meta-analyses, pooled analyses, and genome-wide association studies. Breast Cancer Res. Treat. 2011, 127, 309-324.
-
(2011)
Breast Cancer Res. Treat
, vol.127
, pp. 309-324
-
-
Peng, S.1
Lu, B.2
Ruan, W.3
Zhu, Y.4
Sheng, H.5
Lai, M.6
-
61
-
-
84948086560
-
Genetic risk assessment and prevention: The role of genetic testing panels in breast cancer
-
Lerner-Ellis, J., Khalouei, S., Sopik, V., Narod, S.A. Genetic risk assessment and prevention: The role of genetic testing panels in breast cancer. Expert Rev. Anticancer Ther. 2015, 15, 1315-1326.
-
(2015)
Expert Rev. Anticancer Ther
, vol.15
, pp. 1315-1326
-
-
Lerner-Ellis, J.1
Khalouei, S.2
Sopik, V.3
Narod, S.A.4
-
62
-
-
84936972267
-
The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches
-
D’Argenio, V., Esposito, M.V., Telese, A., Precone, V., Starnone, F., Nunziato, M., Cantiello, P., Iorio, M., Evangelista, E., D’Aiuto, M., et al. The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches. Clin. Chim. Acta 2015, 446, 221-225.
-
(2015)
Clin. Chim. Acta
, vol.446
, pp. 221-225
-
-
D’Argenio, V.1
Esposito, M.V.2
Telese, A.3
Precone, V.4
Starnone, F.5
Nunziato, M.6
Cantiello, P.7
Iorio, M.8
Evangelista, E.9
D’Aiuto, M.10
-
63
-
-
85011644685
-
-
accessed on 15 November 2016)
-
Breast-Health-UK. Available online: https://www.breasthealthuk.com (accessed on 15 November 2016).
-
-
-
-
64
-
-
84930531402
-
Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
-
Easton, D.F., Pharoah, P.D., Antoniou, A.C., Tischkowitz, M., Tavtigian, S.V., Nathanson, K.L., Devilee, P., Meindl, A., Couch, F.J., Southey, M., et al. Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk. N. Engl. J. Med. 2015, 372, 2243-2257.
-
(2015)
N. Engl. J. Med
, vol.372
, pp. 2243-2257
-
-
Easton, D.F.1
Pharoah, P.D.2
Antoniou, A.C.3
Tischkowitz, M.4
Tavtigian, S.V.5
Nathanson, K.L.6
Devilee, P.7
Meindl, A.8
Couch, F.J.9
Southey, M.10
-
65
-
-
84899436211
-
Next-generation sequencing for inherited breast cancer risk: Counseling through the complexity
-
Rainville, I.R., Rana, H.Q. Next-generation sequencing for inherited breast cancer risk: Counseling through the complexity. Curr. Oncol. Rep. 2014, 16, 371, doi:10.1007/s11912-013-0371-z.
-
(2014)
Curr. Oncol. Rep
, vol.16
, pp. 371
-
-
Rainville, I.R.1
Rana, H.Q.2
-
66
-
-
84976556872
-
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: Implications of embracing a multi-gene panel in molecular diagnosis in India
-
Mannan, A.U., Singh, J., Lakshmikeshava, R., Thota, N., Singh, S., Sowmya, T.S., Mishra, A., Sinha, A., Deshwal, S., Soni, M.R., et al. Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: Implications of embracing a multi-gene panel in molecular diagnosis in India. J. Hum. Genet. 2016, 61, 515-522.
-
(2016)
J. Hum. Genet
, vol.61
, pp. 515-522
-
-
Mannan, A.U.1
Singh, J.2
Lakshmikeshava, R.3
Thota, N.4
Singh, S.5
Sowmya, T.S.6
Mishra, A.7
Sinha, A.8
Deshwal, S.9
Soni, M.R.10
-
67
-
-
84961875813
-
Advances in Hereditary Colorectal and Pancreatic Cancers
-
Underhill, M.L., Germansky, K.A., Yurgelun, M.B. Advances in Hereditary Colorectal and Pancreatic Cancers. Clin. Ther. 2016, 38, 1600-1621.
-
(2016)
Clin. Ther
, vol.38
, pp. 1600-1621
-
-
Underhill, M.L.1
Germansky, K.A.2
Yurgelun, M.B.3
-
68
-
-
84991276148
-
Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis
-
Schenkel, L.C., Kerkhof, J., Stuart, A., Reilly, J., Eng, B., Woodside, C., Levstik, A., Howlett, C.J., Rupar, A.C., Knoll, J.H., et al. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. J. Mol. Diagn. 2016, 18, 657-667.
-
(2016)
J. Mol. Diagn
, vol.18
, pp. 657-667
-
-
Schenkel, L.C.1
Kerkhof, J.2
Stuart, A.3
Reilly, J.4
Eng, B.5
Woodside, C.6
Levstik, A.7
Howlett, C.J.8
Rupar, A.C.9
Knoll, J.H.10
-
69
-
-
84983380158
-
Teixeira, M.R. Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity
-
Pinto, P., Paulo, P., Santos, C., Rocha, P., Pinto, C., Veiga, I., Pinheiro, M., Peixoto, A., Teixeira, M.R. Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. Breast Cancer Res. Treat. 2016, 159, 245-256.
-
(2016)
Breast Cancer Res. Treat
, vol.159
, pp. 245-256
-
-
Pinto, P.1
Paulo, P.2
Santos, C.3
Rocha, P.4
Pinto, C.5
Veiga, I.6
Pinheiro, M.7
Peixoto, A.8
-
70
-
-
84994430575
-
Gene panel sequencing in familial Breast/Ovarian Cancer patients identifies multiple novel mutations also in genes others than BRCA1/2
-
Kraus, C., Hoyer, J., Vasileiou, G., Wunderle, M., Lux, M.P., Fasching, P.A., Krumbiegel, M., Uebe, S., Reuter, M., Beckmann, M.W., et al. Gene panel sequencing in familial Breast/Ovarian Cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. Int. J. Cancer 2017, 140, 95-102.
-
(2017)
Int. J. Cancer
, vol.140
, pp. 95-102
-
-
Kraus, C.1
Hoyer, J.2
Vasileiou, G.3
Wunderle, M.4
Lux, M.P.5
Fasching, P.A.6
Krumbiegel, M.7
Uebe, S.8
Reuter, M.9
Beckmann, M.W.10
-
71
-
-
84878823452
-
Embrace, Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE
-
Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D.G., Izatt, L., Eeles, R.A., Adlard, J., et al. Embrace, Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE. J. Natl. Cancer Inst. 2013, 105, 812-822.
-
(2013)
J. Natl. Cancer Inst
, vol.105
, pp. 812-822
-
-
Mavaddat, N.1
Peock, S.2
Frost, D.3
Ellis, S.4
Platte, R.5
Fineberg, E.6
Evans, D.G.7
Izatt, L.8
Eeles, R.A.9
Adlard, J.10
-
72
-
-
84873412474
-
International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
-
Canto, M.I., Harinck, F., Hruban, R.H., Offerhaus, G.J., Poley, J.W., Kamel, I., Nio, Y., Schulick, R.S., Bassi, C., Kluijt, I., et al. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 2013, 62, 339-347.
-
(2013)
Gut
, vol.62
, pp. 339-347
-
-
Canto, M.I.1
Harinck, F.2
Hruban, R.H.3
Offerhaus, G.J.4
Poley, J.W.5
Kamel, I.6
Nio, Y.7
Schulick, R.S.8
Bassi, C.9
Kluijt, I.10
-
73
-
-
38449107978
-
Breast cancer risk among male BRCA1 and BRCA2 mutation carriers
-
Tai, Y.C., Domchek, S., Parmigiani, G., Chen, S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. J. Natl. Cancer Inst. 2007, 99, 1811-1814.
-
(2007)
J. Natl. Cancer Inst
, vol.99
, pp. 1811-1814
-
-
Tai, Y.C.1
Domchek, S.2
Parmigiani, G.3
Chen, S.4
-
74
-
-
17144455028
-
Identification of Rad51 alteration in patients with bilateral breast cancer
-
Kato, M., Yano, K., Matsuo, F., Saito, H., Katagiri, T., Kurumizaka, H., Yoshimoto, M., Kasumi, F., Akiyama, F., Sakamoto, G., et al. Identification of Rad51 alteration in patients with bilateral breast cancer. J. Hum. Genet. 2000, 45, 133-137.
-
(2000)
J. Hum. Genet
, vol.45
, pp. 133-137
-
-
Kato, M.1
Yano, K.2
Matsuo, F.3
Saito, H.4
Katagiri, T.5
Kurumizaka, H.6
Yoshimoto, M.7
Kasumi, F.8
Akiyama, F.9
Sakamoto, G.10
-
75
-
-
84865620494
-
Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography
-
Thompson, L.H. Recognition, signaling, and repair of DNA double-strand breaks produced by ionizing radiation in mammalian cells: The molecular choreography. Mutat. Res. 2012, 751, 158-246.
-
(2012)
Mutat. Res.
, vol.751
, pp. 158-246
-
-
Thompson, L.H.1
-
76
-
-
84982980766
-
Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology
-
Provenzale, D., Gupta, S., Ahnen, D.J., Bray, T., Cannon, J.A., Cooper, G., David, D.S., Early, D.S., Erwin, D., Ford, J.M., et al. Genetic/Familial High-Risk Assessment: Colorectal Version 1.2016, NCCN Clinical Practice Guidelines in Oncology. J. Natl. Compr. Cancer Netw. 2016, 14, 1010-1030.
-
(2016)
J. Natl. Compr. Cancer Netw
, vol.14
, pp. 1010-1030
-
-
Provenzale, D.1
Gupta, S.2
Ahnen, D.J.3
Bray, T.4
Cannon, J.A.5
Cooper, G.6
David, D.S.7
Early, D.S.8
Erwin, D.9
Ford, J.M.10
-
77
-
-
84930650698
-
Hereditary diffuse gastric cancer: Updated clinical guidelines with an emphasis on germline CDH1 mutation carriers
-
Van der Post, R.S., Vogelaar, I.P., Carneiro, F., Guilford, P., Huntsman, D., Hoogerbrugge, N., Caldas, C., Schreiber, K.E., Hardwick, R.H., Ausems, M.G., et al. Hereditary diffuse gastric cancer: Updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J. Med. Genet. 2015, 52, 361-374.
-
(2015)
J. Med. Genet
, vol.52
, pp. 361-374
-
-
Van Der Post, R.S.1
Vogelaar, I.P.2
Carneiro, F.3
Guilford, P.4
Huntsman, D.5
Hoogerbrugge, N.6
Caldas, C.7
Schreiber, K.E.8
Hardwick, R.H.9
Ausems, M.G.10
-
78
-
-
0033836334
-
Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (P16-Leiden)
-
Vasen, H.F., Gruis, N.A., Frants, R.R., van der Velden, P.A., Hille, E.T., Bergman, W. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int. J. Cancer 2000, 87, 809-811.
-
(2000)
Int. J. Cancer
, vol.87
, pp. 809-811
-
-
Vasen, H.F.1
Gruis, N.A.2
Frants, R.R.3
Van Der Velden, P.A.4
Hille, E.T.5
Bergman, W.6
-
79
-
-
77953230425
-
High cancer risk in Peutz-Jeghers syndrome: A systematic review and surveillance recommendations
-
Van Lier, M.G., Wagner, A., Mathus-Vliegen, E.M., Kuipers, E.J., Steyerberg, E.W., van Leerdam, M.E. High cancer risk in Peutz-Jeghers syndrome: A systematic review and surveillance recommendations. Am. J. Gastroenterol. 2010, 105, 1258-1264.
-
(2010)
Am. J. Gastroenterol
, vol.105
, pp. 1258-1264
-
-
Van Lier, M.G.1
Wagner, A.2
Mathus-Vliegen, E.M.3
Kuipers, E.J.4
Steyerberg, E.W.5
Van Leerdam, M.E.6
-
80
-
-
84861584357
-
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
-
Jaeger, E., Leedham, S., Lewis, A., Segditsas, S., Becker, M., Cuadrado, P. R., Davis, H., Kaur, K., Heinimann, K., Howarth, K., East, J., Taylor, J., Thomas, H., Tomlinson, I., Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1. Nat. Genet. 2012, 44, 699-703.
-
(2012)
Nat. Genet
, vol.44
, pp. 699-703
-
-
Jaeger, E.1
Leedham, S.2
Lewis, A.3
Segditsas, S.4
Becker, M.5
Cuadrado, P.R.6
Davis, H.7
Kaur, K.8
Heinimann, K.9
Howarth, K.10
East, J.11
Taylor, J.12
Thomas, H.13
Tomlinson, I.14
-
81
-
-
80052264429
-
Germline mutations in RAD51D confer susceptibility to ovarian cancer
-
Loveday, C., Turnbull, C., Ramsay, E., Hughes, D., Ruark, E., Frankum, J. R., Bowden, G., Kalmyrzaev, B., Warren-Perry, M., Snape, K., Adlard, J. W., Barwell, J., Berg, J., Brady, A. F., Brewer, C., Brice, G., Chapman, C., Cook, J., Davidson, R., Donaldson, A., Douglas, F., Greenhalgh, L., Henderson, A., Izatt, L., Kumar, A., Lalloo, F., Miedzybrodzka, Z., Morrison, P. J., Paterson, J., Porteous, M., Rogers, M. T., Shanley, S., Walker, L., Breast Cancer Susceptibility, C., Eccles, D., Evans, D. G., Renwick, A., Seal, S., Lord, C. J., Ashworth, A., Reis-Filho, J. S., Antoniou, A. C., Rahman, N., Germline mutations in RAD51D confer susceptibility to ovarian cancer. Nat. Genet. 2011, 43, 879-882.
-
(2011)
Nat. Genet
, vol.43
, pp. 879-882
-
-
Loveday, C.1
Turnbull, C.2
Ramsay, E.3
Hughes, D.4
Ruark, E.5
Frankum, J.R.6
Bowden, G.7
Kalmyrzaev, B.8
Warren-Perry, M.9
Snape, K.10
Adlard, J.W.11
Barwell, J.12
Berg, J.13
Brady, A.F.14
Brewer, C.15
Brice, G.16
Chapman, C.17
Cook, J.18
Davidson, R.19
Donaldson, A.20
Douglas, F.21
Greenhalgh, L.22
Henderson, A.23
Izatt, L.24
Kumar, A.25
Lalloo, F.26
Miedzybrodzka, Z.27
Morrison, P.J.28
Paterson, J.29
Porteous, M.30
Rogers, M.T.31
Shanley, S.32
Walker, L.33
Breast Cancer Susceptibility, C.34
Eccles, D.35
Evans, D.G.36
Renwick, A.37
Seal, S.38
Lord, C.J.39
Ashworth, A.40
Reis-Filho, J.S.41
Antoniou, A.C.42
Rahman, N.43
more..
-
82
-
-
0033780630
-
Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling
-
Liu, W., Dong, X., Mai, M., Seelan, R. S., Taniguchi, K., Krishnadath, K. K., Halling, K. C., Cunningham, J. M., Boardman, L. A., Qian, C., Christensen, E., Schmidt, S. S., Roche, P. C., Smith, D. I., Thibodeau, S. N., Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat. Genet. 2000, 26, 146-147.
-
(2000)
Nat. Genet
, vol.26
, pp. 146-147
-
-
Liu, W.1
Dong, X.2
Mai, M.3
Seelan, R.S.4
Taniguchi, K.5
Krishnadath, K.K.6
Halling, K.C.7
Cunningham, J.M.8
Boardman, L.A.9
Qian, C.10
Christensen, E.11
Schmidt, S.S.12
Roche, P.C.13
Smith, D.I.14
Thibodeau, S.N.15
-
83
-
-
0036301097
-
Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: Search for correlation between phenotype and the functional domains of the MEN1 protein
-
Wautot, V., Vercherat, C., Lespinasse, J., Chambe, B., Lenoir, G. M., Zhang, C. X., Porchet, N., Cordier, M., Beroud, C., Calender, A., Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Hum. Mutat. 2002, 20, 35-47.
-
(2002)
Hum. Mutat
, vol.20
, pp. 35-47
-
-
Wautot, V.1
Vercherat, C.2
Lespinasse, J.3
Chambe, B.4
Lenoir, G.M.5
Zhang, C.X.6
Porchet, N.7
Cordier, M.8
Beroud, C.9
Calender, A.10
-
84
-
-
84952630873
-
Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening
-
Frey, M.K., Kim, S.H., Bassett, R.Y., Martineau, J., Dalton, E., Chern, J.Y., Blank, S.V. Rescreening for genetic mutations using multi-gene panel testing in patients who previously underwent non-informative genetic screening. Gynecol. Oncol. 2015, 139, 211-215.
-
(2015)
Gynecol. Oncol
, vol.139
, pp. 211-215
-
-
Frey, M.K.1
Kim, S.H.2
Bassett, R.Y.3
Martineau, J.4
Dalton, E.5
Chern, J.Y.6
Blank, S.V.7
-
85
-
-
64849092309
-
Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene
-
Jones, S., Hruban, R.H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D.W., Lin, J.C., Palmisano, E., Brune, K., Jaffee, E.M., et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science 2009, 324, 217, doi:10.1126/science.1171202.
-
(2009)
Science
, vol.324
, pp. 217
-
-
Jones, S.1
Hruban, R.H.2
Kamiyama, M.3
Borges, M.4
Zhang, X.5
Parsons, D.W.6
Lin, J.C.7
Palmisano, E.8
Brune, K.9
Jaffee, E.M.10
-
86
-
-
79959752614
-
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
-
Comino-Mendez, I., Gracia-Aznarez, F.J., Schiavi, F., Landa, I., Leandro-Garcia, L.J., Leton, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G., 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-Mendez, I.1
Gracia-Aznarez, F.J.2
Schiavi, F.3
Landa, I.4
Leandro-Garcia, L.J.5
Leton, R.6
Honrado, E.7
Ramos-Medina, R.8
Caronia, D.9
Pita, G.10
-
87
-
-
84873096362
-
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
-
Palles, C., Cazier, J.B., Howarth, K.M., Domingo, E., Jones, A.M., Broderick, P., Kemp, Z., Spain, S.L., Guarino, E., Salguero, I., et al. 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
Domingo, E.4
Jones, A.M.5
Broderick, P.6
Kemp, Z.7
Spain, S.L.8
Guarino, E.9
Salguero, I.10
-
88
-
-
84873696289
-
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
-
Gracia-Aznarez, F.J., Fernandez, V., Pita, G., Peterlongo, P., Dominguez, O., de la Hoya, M., Duran, M., Osorio, A., Moreno, L., Gonzalez-Neira, A., et al. Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS ONE 2013, 8, e55681.
-
(2013)
Plos ONE
, vol.8
-
-
Gracia-Aznarez, F.J.1
Fernandez, V.2
Pita, G.3
Peterlongo, P.4
Dominguez, O.5
De La Hoya, M.6
Duran, M.7
Osorio, A.8
Moreno, L.9
Gonzalez-Neira, A.10
-
89
-
-
84873160825
-
Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling
-
Hilbers, F.S., Meijers, C.M., Laros, J.F., van Galen, M., Hoogerbrugge, N., Vasen, H.F., Nederlof, P.M., Wijnen, J.T., van Asperen, C.J., Devilee, P. Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling. PLoS ONE 2013, 8, e55734.
-
(2013)
Plos ONE
, vol.8
-
-
Hilbers, F.S.1
Meijers, C.M.2
Laros, J.F.3
Van Galen, M.4
Hoogerbrugge, N.5
Vasen, H.F.6
Nederlof, P.M.7
Wijnen, J.T.8
Van Asperen, C.J.9
Devilee, P.10
-
90
-
-
82255191753
-
FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer
-
Park, D.J., Odefrey, F.A., Hammet, F., Giles, G.G., Baglietto, L., ABCFS, MCCS, Hopper, J.L., Schmidt, D.F., Makalic, E., et al. FAN1 variants identified in multiple-case early-onset breast cancer families via exome sequencing: No evidence for association with risk for breast cancer. Breast Cancer Res. Treat. 2011, 130, 1043-1049.
-
(2011)
Breast Cancer Res. Treat
, vol.130
, pp. 1043-1049
-
-
Park, D.J.1
Odefrey, F.A.2
Hammet, F.3
Giles, G.G.4
Baglietto, L.5
Abcfs, M.6
Hopper, J.L.7
Schmidt, D.F.8
Makalic, E.9
-
91
-
-
84863990269
-
Predisposition gene identification in common cancers by exome sequencing: Insights from familial breast cancer
-
Snape, K., Ruark, E., Tarpey, P., Renwick, A., Turnbull, C., Seal, S., Murray, A., Hanks, S., Douglas, J., Stratton, M.R., et al. Predisposition gene identification in common cancers by exome sequencing: Insights from familial breast cancer. Breast Cancer Res. Treat. 2012, 134, 429-433.
-
(2012)
Breast Cancer Res. Treat
, vol.134
, pp. 429-433
-
-
Snape, K.1
Ruark, E.2
Tarpey, P.3
Renwick, A.4
Turnbull, C.5
Seal, S.6
Murray, A.7
Hanks, S.8
Douglas, J.9
Stratton, M.R.10
-
92
-
-
84866932831
-
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
-
Thompson, E.R., Doyle, M.A., Ryland, G.L., Rowley, S.M., Choong, D.Y., Tothill, R.W., Thorne, H., Con Fab, Barnes, D.R., Li, J., et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet. 2012, 8, e1002894.
-
(2012)
Plos Genet
, vol.8
-
-
Thompson, E.R.1
Doyle, M.A.2
Ryland, G.L.3
Rowley, S.M.4
Choong, D.Y.5
Tothill, R.W.6
Thorne, H.7
Fab, C.8
Barnes, D.R.9
Li, J.10
-
93
-
-
84880507665
-
Mutational heterogeneity in cancer and the search for new cancer-associated genes
-
Lawrence, M.S., Stojanov, P., Polak, P., Kryukov, G.V., Cibulskis, K., Sivachenko, A., Carter, S.L., Stewart, C., Mermel, C.H., Roberts, S.A., et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes. Nature 2013, 499, 214-218.
-
(2013)
Nature
, vol.499
, pp. 214-218
-
-
Lawrence, M.S.1
Stojanov, P.2
Polak, P.3
Kryukov, G.V.4
Cibulskis, K.5
Sivachenko, A.6
Carter, S.L.7
Stewart, C.8
Mermel, C.H.9
Roberts, S.A.10
-
94
-
-
84864649027
-
Points to consider in the clinical application of genomic sequencing
-
Directors, A.B.O. Points to consider in the clinical application of genomic sequencing. Genet. Med. 2012, 14, 759-761.
-
(2012)
Genet. Med
, vol.14
, pp. 759-761
-
-
Directors, A.B.O.1
-
95
-
-
84904252631
-
The evolution of cancer risk assessment in the era of next generation sequencing
-
Fecteau, H., Vogel, K.J., Hanson, K., Morrill-Cornelius, S. The evolution of cancer risk assessment in the era of next generation sequencing. J. Genet. Couns. 2014, 23, 633-639.
-
(2014)
J. Genet. Couns
, vol.23
, pp. 633-639
-
-
Fecteau, H.1
Vogel, K.J.2
Hanson, K.3
Morrill-Cornelius, S.4
-
96
-
-
78650961149
-
Epigenetics in Alternative Pre-mRNA Splicing
-
Luco, R.F., Allo, M., Schor, I.E., Kornblihtt, A.R., Misteli, T. Epigenetics in Alternative Pre-mRNA Splicing. Cell 2011, 144, 16-26.
-
(2011)
Cell
, vol.144
, pp. 16-26
-
-
Luco, R.F.1
Allo, M.2
Schor, I.E.3
Kornblihtt, A.R.4
Misteli, T.5
-
97
-
-
80052598724
-
Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing
-
Brandão, R.D., van Roozendaal, K., Tserpelis, D., Gomez Garcia, E., Blok, M.J. Characterisation of unclassified variants in the BRCA1/2 genes with a putative effect on splicing. Breast Cancer Res. Treat. 2011, 129, 971-982.
-
(2011)
Breast Cancer Res. Treat
, vol.129
, pp. 971-982
-
-
Brandão, R.D.1
Van Roozendaal, K.2
Tserpelis, D.3
Gomez Garcia, E.4
Blok, M.J.5
-
98
-
-
41349117601
-
Unclassified variants identified in BRCA1 exon 11: Consequences on splicing
-
Anczuków, O., Buisson, M., Salles, M.-J., Triboulet, S., Longy, M., Lidereau, R., Sinilnikova, O.M., Mazoyer, S. Unclassified variants identified in BRCA1 exon 11: Consequences on splicing. Genes Chromosomes Cancer 2008, 47, 418-426.
-
(2008)
Genes Chromosomes Cancer
, vol.47
, pp. 418-426
-
-
Anczuków, O.1
Buisson, M.2
Salles, M.-J.3
Triboulet, S.4
Longy, M.5
Lidereau, R.6
Sinilnikova, O.M.7
Mazoyer, S.8
-
99
-
-
47149083097
-
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
-
Bonnet, C., Krieger, S., Vezain, M., Rousselin, A., Tournier, I., Martins, A., Berthet, P., Chevrier, A., Dugast, C., Layet, V., et al. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. J. Med. Genet. 2008, 45, 438-446.
-
(2008)
J. Med. Genet
, vol.45
, pp. 438-446
-
-
Bonnet, C.1
Krieger, S.2
Vezain, M.3
Rousselin, A.4
Tournier, I.5
Martins, A.6
Berthet, P.7
Chevrier, A.8
Dugast, C.9
Layet, V.10
-
100
-
-
2142744874
-
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain
-
Campos, B., Díez, O., Domènech, M., Baena, M., Balmaña, J., Sanz, J., Ramírez, A., Alonso, C., Baiget, M. RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum. Mutat. 2003, 22, 337.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 337
-
-
Campos, B.1
Díez, O.2
Domènech, M.3
Baena, M.4
Balmaña, J.5
Sanz, J.6
Ramírez, A.7
Alonso, C.8
Baiget, M.9
-
101
-
-
70350350606
-
Impact of BRCA1 and BRCA2 variants on splicing: Clues from an allelic imbalance study
-
Caux-Moncoutier, V., Pages-Berhouet, S., Michaux, D., Asselain, B., Castera, L., de Pauw, A., Buecher, B., Gauthier-Villars, M., Stoppa-Lyonnet, D., Houdayer, C. Impact of BRCA1 and BRCA2 variants on splicing: Clues from an allelic imbalance study. Eur. J. Hum. Genet. 2009, 17, 1471-1480.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1471-1480
-
-
Caux-Moncoutier, V.1
Pages-Berhouet, S.2
Michaux, D.3
Asselain, B.4
Castera, L.5
De Pauw, A.6
Buecher, B.7
Gauthier-Villars, M.8
Stoppa-Lyonnet, D.9
Houdayer, C.10
-
102
-
-
0036724459
-
BRCA2 T2722R is a deleterious allele that causes exon skipping
-
Fackenthal, J.D., Cartegni, L., Krainer, A.R., Olopade, O.I. BRCA2 T2722R is a deleterious allele that causes exon skipping. Am. J. Hum. Genet. 2002, 71, 625-631.
-
(2002)
Am. J. Hum. Genet
, vol.71
, pp. 625-631
-
-
Fackenthal, J.D.1
Cartegni, L.2
Krainer, A.R.3
Olopade, O.I.4
-
103
-
-
4544274825
-
Familial melanoma, pancreatic cancer and germline CDKN2A mutations
-
Goldstein, A.M. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum. Mutat. 2004, 23, 630, doi:10.1002/humu.9247.
-
(2004)
Hum. Mutat
, vol.23
, pp. 630
-
-
Goldstein, A.M.1
-
104
-
-
0035510173
-
Deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees
-
Harland, M., Mistry, S., Bishop, D.T., Newton Bishop, J.A. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum. Mol. Genet. 2001, 10, 2679-2686.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 2679-2686
-
-
Harland, M.1
Mistry, S.2
Bishop, D.T.3
Newton Bishop, J.4
-
105
-
-
84939417620
-
Germline RAD51B truncating mutation in a family with cutaneous melanoma
-
Wadt, K.A.W., Aoude, L.G., Golmard, L., Hansen, T.V.O., Sastre-Garau, X., Hayward, N.K., Gerdes, A.-M. Germline RAD51B truncating mutation in a family with cutaneous melanoma. Fam. Cancer 2015, 14, 337-340.
-
(2015)
Fam. Cancer
, vol.14
, pp. 337-340
-
-
Wadt, K.A.W.1
Aoude, L.G.2
Golmard, L.3
Hansen, T.V.O.4
Sastre-Garau, X.5
Hayward, N.K.6
Gerdes, A.-M.7
-
106
-
-
0041302145
-
CDKN2A point mutations D153spl(C.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF
-
Rutter, J.L., Goldstein, A.M., Davila, M.R., Tucker, M.A., Struewing, J.P. CDKN2A point mutations D153spl(c.457G>T) and IVS2+1G>T result in aberrant splice products affecting both p16INK4a and p14ARF. Oncogene 2003, 22, 4444-4448.
-
(2003)
Oncogene
, vol.22
, pp. 4444-4448
-
-
Rutter, J.L.1
Goldstein, A.M.2
Davila, M.R.3
Tucker, M.A.4
Struewing, J.P.5
-
107
-
-
0242438530
-
NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient
-
Colapietro, P., Gervasini, C., Natacci, F., Rossi, L., Riva, P., Larizza, L. NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. Hum. Genet. 2003, 113, 551-554.
-
(2003)
Hum. Genet
, vol.113
, pp. 551-554
-
-
Colapietro, P.1
Gervasini, C.2
Natacci, F.3
Rossi, L.4
Riva, P.5
Larizza, L.6
-
108
-
-
46249103973
-
Stem cell transcriptome profiling via massive-scale mRNA sequencing
-
Cloonan, N., Forrest, A.R.R., Kolle, G., Gardiner, B.B.A., Faulkner, G.J., Brown, M.K., Taylor, D.F., Steptoe, A.L., Wani, S., Bethel, G., et al. Stem cell transcriptome profiling via massive-scale mRNA sequencing. Nat. Methods 2008, 5, 613-619.
-
(2008)
Nat. Methods
, vol.5
, pp. 613-619
-
-
Cloonan, N.1
Forrest, A.R.R.2
Kolle, G.3
Gardiner, B.B.A.4
Faulkner, G.J.5
Brown, M.K.6
Taylor, D.F.7
Steptoe, A.L.8
Wani, S.9
Bethel, G.10
-
109
-
-
46249106990
-
Mapping and quantifying mammalian transcriptomes by RNA-Seq
-
Mortazavi, A., Williams, B.A., McCue, K., Schaeffer, L., Wold, B. Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nat. Methods 2008, 5, 621-628.
-
(2008)
Nat. Methods
, vol.5
, pp. 621-628
-
-
Mortazavi, A.1
Williams, B.A.2
McCue, K.3
Schaeffer, L.4
Wold, B.5
-
110
-
-
47649124124
-
A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome
-
Sultan, M., Schulz, M.H., Richard, H., Magen, A., Klingenhoff, A., Scherf, M., Seifert, M., Borodina, T., Soldatov, A., Parkhomchuk, D., et al. A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome. Science 2008, 321, 956-960.
-
(2008)
Science
, vol.321
, pp. 956-960
-
-
Sultan, M.1
Schulz, M.H.2
Richard, H.3
Magen, A.4
Klingenhoff, A.5
Scherf, M.6
Seifert, M.7
Borodina, T.8
Soldatov, A.9
Parkhomchuk, D.10
-
111
-
-
47949084846
-
Profiling the HeLa S3 transcriptome using randomly primed cDNA and massively parallel short-read sequencing
-
Morin, R.D., Bainbridge, M., Fejes, A., Hirst, M., Krzywinski, M., Pugh, T.J., McDonald, H., Varhol, R., Jones, S.J.M., Marra, M.A. Profiling the HeLa S3 transcriptome using randomly primed cDNA and massively parallel short-read sequencing. BioTechniques 2008, 45, 81-94.
-
(2008)
Biotechniques
, vol.45
, pp. 81-94
-
-
Morin, R.D.1
Bainbridge, M.2
Fejes, A.3
Hirst, M.4
Krzywinski, M.5
Pugh, T.J.6
McDonald, H.7
Varhol, R.8
Jones, S.J.M.9
Marra, M.A.10
-
112
-
-
84861970552
-
Accurate identification of human Alu and non-Alu RNA editing sites
-
Ramaswami, G., Lin, W., Piskol, R., Tan, M.H., Davis, C., Li, J.B. Accurate identification of human Alu and non-Alu RNA editing sites. Nat. Methods 2012, 9, 579-581.
-
(2012)
Nat. Methods
, vol.9
, pp. 579-581
-
-
Ramaswami, G.1
Lin, W.2
Piskol, R.3
Tan, M.H.4
Davis, C.5
Li, J.B.6
-
113
-
-
85011641199
-
-
DARNED, accessed on 7 November 2016)
-
DARNED. Available online: http://www.darned.ucc.ie (accessed on 7 November 2016).
-
-
-
-
114
-
-
84926518916
-
Genome Sequence-Independent Identification of RNA Editing Sites
-
Zhang, Q., Xiao, X. Genome Sequence-Independent Identification of RNA Editing Sites. Nat. Methods 2015, 12, 347-350.
-
(2015)
Nat. Methods
, vol.12
, pp. 347-350
-
-
Zhang, Q.1
Xiao, X.2
-
115
-
-
85018223774
-
-
bioRxiv
-
Cummings, B.B., Marshall, J.L., Tukiainen, T., Lek, M., Donkervoort, S., Foley, A.R., Bolduc, V., Waddell, L., Sandaradura, S., O’Grady, G.L., et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. bioRxiv 2016, doi:10.1101/074153.
-
(2016)
Improving Genetic Diagnosis in Mendelian Disease with Transcriptome Sequencing
-
-
Cummings, B.B.1
Marshall, J.L.2
Tukiainen, T.3
Lek, M.4
Donkervoort, S.5
Foley, A.R.6
Bolduc, V.7
Waddell, L.8
Sandaradura, S.9
O’Grady, G.L.10
-
116
-
-
85014343987
-
Transcriptome sequencing reveals aberrant alternative splicing in Huntington’s disease
-
Lin, L., Park, J.W., Ramachandran, S., Zhang, Y., Tseng, Y.-T., Shen, S., Waldvogel, H.J., Curtis, M.A., Faull, R.L.M., Troncoso, J.C., et al. Transcriptome sequencing reveals aberrant alternative splicing in Huntington’s disease. Hum. Mol. Genet. 2016, 25, 3454-3466.
-
(2016)
Hum. Mol. Genet
, vol.25
, pp. 3454-3466
-
-
Lin, L.1
Park, J.W.2
Ramachandran, S.3
Zhang, Y.4
Tseng, Y.-T.5
Shen, S.6
Waldvogel, H.J.7
Curtis, M.A.8
Faull, R.L.M.9
Troncoso, J.C.10
-
117
-
-
80053902729
-
Restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model
-
Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C.F., Krainer, A.R. Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature 2011, 478, 123-126.
-
(2011)
Nature
, vol.478
, pp. 123-126
-
-
Hua, Y.1
Sahashi, K.2
Rigo, F.3
Hung, G.4
Horev, G.5
Bennett, C.F.6
Krainer, A.R.7
Peripheral, S.8
-
118
-
-
84875212043
-
Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness
-
Lentz, J.J., Jodelka, F.M., Hinrich, A.J., McCaffrey, K.E., Farris, H.E., Spalitta, M.J., Bazan, N.G., Duelli, D.M., Rigo, F., Hastings, M.L. Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat. Med. 2013, 19, 345-350.
-
(2013)
Nat. Med
, vol.19
, pp. 345-350
-
-
Lentz, J.J.1
Jodelka, F.M.2
Hinrich, A.J.3
McCaffrey, K.E.4
Farris, H.E.5
Spalitta, M.J.6
Bazan, N.G.7
Duelli, D.M.8
Rigo, F.9
Hastings, M.L.10
-
119
-
-
84863983970
-
Spliceosome-Mediated Trans-Splicing: The Therapeutic Cut and Paste
-
Wally, V., Murauer, E.M., Bauer, J.W. Spliceosome-Mediated Trans-Splicing: The Therapeutic Cut and Paste. J. Investig. Dermatol. 2012, 132, 1959-1966.
-
(2012)
J. Investig. Dermatol
, vol.132
, pp. 1959-1966
-
-
Wally, V.1
Murauer, E.M.2
Bauer, J.W.3
-
120
-
-
84981531502
-
Construction and validation of a RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations
-
Tockner, B., Kocher, T., Hainzl, S., Reichelt, J., Bauer, J.W., Koller, U., Murauer, E.M. Construction and validation of a RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations. Gene Ther. 2016, 23, 775-784.
-
(2016)
Gene Ther
, vol.23
, pp. 775-784
-
-
Tockner, B.1
Kocher, T.2
Hainzl, S.3
Reichelt, J.4
Bauer, J.W.5
Koller, U.6
Murauer, E.M.7
-
121
-
-
84863609627
-
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline
-
Weissman, S.M., Burt, R., Church, J., Erdman, S., Hampel, H., Holter, S., Jasperson, K., Kalady, M.F., Haidle, J.L., Lynch, H.T., et al. Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. J. Genet. Couns. 2012, 21, 484-493.
-
(2012)
J. Genet. Couns
, vol.21
, pp. 484-493
-
-
Weissman, S.M.1
Burt, R.2
Church, J.3
Erdman, S.4
Hampel, H.5
Holter, S.6
Jasperson, K.7
Kalady, M.F.8
Haidle, J.L.9
Lynch, H.T.10
-
122
-
-
77953611506
-
Common genetic variants and cancer risk in Mendelian cancer syndromes
-
Antoniou, A.C., Chenevix-Trench, G. Common genetic variants and cancer risk in Mendelian cancer syndromes. Curr. Opin. Genet. Dev. 2010, 20, 299-307.
-
(2010)
Curr. Opin. Genet. Dev
, vol.20
, pp. 299-307
-
-
Antoniou, A.C.1
Chenevix-Trench, G.2
-
123
-
-
79551621885
-
Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers
-
Milne, R.L., Antoniou, A.C. Genetic modifiers of cancer risk for BRCA1 and BRCA2 mutation carriers. Ann. Oncol. 2011, 22, i11-i17.
-
(2011)
Ann. Oncol
, vol.22
, pp. i11-i17
-
-
Milne, R.L.1
Antoniou, A.C.2
-
124
-
-
6844239539
-
Preimplantation genetic diagnosis of inherited cancer: Familial adenomatous polyposis coli
-
Ao, A., Wells, D., Handyside, A.H., Winston, R.M., Delhanty, J.D. Preimplantation genetic diagnosis of inherited cancer: Familial adenomatous polyposis coli. J. Assist. Reprod. Genet. 1998, 15, 140-144.
-
(1998)
J. Assist. Reprod. Genet
, vol.15
, pp. 140-144
-
-
Ao, A.1
Wells, D.2
Handyside, A.H.3
Winston, R.M.4
Delhanty, J.D.5
-
125
-
-
0036296668
-
First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2)
-
Abou-Sleiman, P.M., Apessos, A., Harper, J.C., Serhal, P., Winston, R.M., Delhanty, J.D. First application of preimplantation genetic diagnosis to neurofibromatosis type 2 (NF2). Prenat. Diagn. 2002, 22, 519-524.
-
(2002)
Prenat. Diagn
, vol.22
, pp. 519-524
-
-
Abou-Sleiman, P.M.1
Apessos, A.2
Harper, J.C.3
Serhal, P.4
Winston, R.M.5
Delhanty, J.D.6
-
126
-
-
0005310198
-
Preimplantation diagnosis for neurofibromatosis
-
Verlinsky, Y., Rechitsky, S., Verlinsky, O., Chistokhina, A., Sharapova, T., Masciangelo, C., Levy, M., Kaplan, B., Lederer, K., Kuliev, A. Preimplantation diagnosis for neurofibromatosis. Reprod. Biomed. Online 2002, 4, 218-222.
-
(2002)
Reprod. Biomed
, vol.4
, pp. 218-222
-
-
Verlinsky, Y.1
Rechitsky, S.2
Verlinsky, O.3
Chistokhina, A.4
Sharapova, T.5
Masciangelo, C.6
Levy, M.7
Kaplan, B.8
Lederer, K.9
Kuliev, A.10
-
127
-
-
33845472926
-
Preimplantation genetic diagnosis for cancer syndromes: A new challenge for preventive medicine
-
Offit, K., Sagi, M., Hurley, K. Preimplantation genetic diagnosis for cancer syndromes: A new challenge for preventive medicine. JAMA 2006, 296, 2727-2730.
-
(2006)
JAMA
, vol.296
, pp. 2727-2730
-
-
Offit, K.1
Sagi, M.2
Hurley, K.3
-
128
-
-
0025307919
-
Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
-
Handyside, A.H., Kontogianni, E.H., Hardy, K., Winston, R.M. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990, 344, 768-770.
-
(1990)
Nature
, vol.344
, pp. 768-770
-
-
Handyside, A.H.1
Kontogianni, E.H.2
Hardy, K.3
Winston, R.M.4
-
129
-
-
0034101415
-
Multiplex PCR of polymorphic markers flanking the CFTR gene, a general approach for preimplantation genetic diagnosis of cystic fibrosis
-
Dreesen, J.C., Jacobs, L.J., Bras, M., Herbergs, J., Dumoulin, J.C., Geraedts, J.P., Evers, J.L., Smeets, H.J. Multiplex PCR of polymorphic markers flanking the CFTR gene, a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol. Hum. Reprod. 2000, 6, 391-396.
-
(2000)
Mol. Hum. Reprod
, vol.6
, pp. 391-396
-
-
Dreesen, J.C.1
Jacobs, L.J.2
Bras, M.3
Herbergs, J.4
Dumoulin, J.C.5
Geraedts, J.P.6
Evers, J.L.7
Smeets, H.J.8
-
130
-
-
77951652338
-
Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells
-
Renwick, P., Trussler, J., Lashwood, A., Braude, P., Ogilvie, C.M. Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod. Biomed. Online 2010, 20, 470-476.
-
(2010)
Reprod. Biomed
, vol.20
, pp. 470-476
-
-
Renwick, P.1
Trussler, J.2
Lashwood, A.3
Braude, P.4
Ogilvie, C.M.5
-
131
-
-
84887626602
-
PGD for hereditary breast and ovarian cancer: The route to universal tests for BRCA1 and BRCA2 mutation carriers
-
Drusedau, M., Dreesen, J.C., Derks-Smeets, I., Coonen, E., van Golde, R., van Echten-Arends, J., Kastrop, P.M., Blok, M.J., Gomez-Garcia, E., Geraedts, J.P., et al. PGD for hereditary breast and ovarian cancer: The route to universal tests for BRCA1 and BRCA2 mutation carriers. Eur. J. Hum. Genet. 2013, 21, 1361-1368.
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. 1361-1368
-
-
Drusedau, M.1
Dreesen, J.C.2
Derks-Smeets, I.3
Coonen, E.4
Van Golde, R.5
Van Echten-Arends, J.6
Kastrop, P.M.7
Blok, M.J.8
Gomez-Garcia, E.9
Geraedts, J.P.10
-
132
-
-
84890562882
-
Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: A proof of principle study
-
Altarescu, G., Zeevi, D.A., Zeligson, S., Perlberg, S., Eldar-Geva, T., Margalioth, E.J., Levy-Lahad, E., Renbaum, P. Familial haplotyping and embryo analysis for Preimplantation genetic diagnosis (PGD) using DNA microarrays: A proof of principle study. J. Assist. Reprod. Genet. 2013, 30, 1595-1603.
-
(2013)
J. Assist. Reprod. Genet
, vol.30
, pp. 1595-1603
-
-
Altarescu, G.1
Zeevi, D.A.2
Zeligson, S.3
Perlberg, S.4
Eldar-Geva, T.5
Margalioth, E.J.6
Levy-Lahad, E.7
Renbaum, P.8
-
133
-
-
84908422368
-
Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro
-
Natesan, S.A., Bladon, A.J., Coskun, S., Qubbaj, W., Prates, R., Munne, S., Coonen, E., Dreesen, J.C., Stevens, S.J., Paulussen, A.D., et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet. Med. 2014, 16, 838-845.
-
(2014)
Genet. Med
, vol.16
, pp. 838-845
-
-
Natesan, S.A.1
Bladon, A.J.2
Coskun, S.3
Qubbaj, W.4
Prates, R.5
Munne, S.6
Coonen, E.7
Dreesen, J.C.8
Stevens, S.J.9
Paulussen, A.D.10
-
134
-
-
84929179294
-
Concurrent whole-genome haplotyping and copy-number profiling of single cells
-
Zamani Esteki, M., Dimitriadou, E., Mateiu, L., Melotte, C., van der Aa, N., Kumar, P., Das, R., Theunis, K., Cheng, J., Legius, E., et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am. J. Hum. Genet. 2015, 96, 894-912.
-
(2015)
Am. J. Hum. Genet
, vol.96
, pp. 894-912
-
-
Zamani Esteki, M.1
Dimitriadou, E.2
Mateiu, L.3
Melotte, C.4
Van Der Aa, N.5
Kumar, P.6
Das, R.7
Theunis, K.8
Cheng, J.9
Legius, E.10
-
135
-
-
84876967760
-
Next-generation sequencing for preimplantation genetic diagnosis
-
Treff, N.R., Forman, E.J., Scott, R.T., Jr. Next-generation sequencing for preimplantation genetic diagnosis. Fertil. Steril. 2013, 99, e17-e18.
-
(2013)
Fertil. Steril
, vol.99
, pp. e17-e18
-
-
Treff, N.R.1
Forman, E.J.2
Scott, R.T.3
-
136
-
-
84928826683
-
The Performance of Whole Genome Amplification Methods and Next-Generation Sequencing for Pre-Implantation Genetic Diagnosis of Chromosomal Abnormalities
-
Li, N., Wang, L., Wang, H., Ma, M., Wang, X., Li, Y., Zhang, W., Zhang, J., Cram, D.S., Yao, Y. The Performance of Whole Genome Amplification Methods and Next-Generation Sequencing for Pre-Implantation Genetic Diagnosis of Chromosomal Abnormalities. J. Genet. Genom. 2015, 42, 151-159.
-
(2015)
J. Genet. Genom
, vol.42
, pp. 151-159
-
-
Li, N.1
Wang, L.2
Wang, H.3
Ma, M.4
Wang, X.5
Li, Y.6
Zhang, W.7
Zhang, J.8
Cram, D.S.9
Yao, Y.10
-
137
-
-
84952690370
-
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses
-
Yan, L., Huang, L., Xu, L., Huang, J., Ma, F., Zhu, X., Tang, Y., Liu, M., Lian, Y., Liu, P., et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. Proc. Natl. Acad. Sci. USA 2015, 112, 15964-15969.
-
(2015)
Proc. Natl. Acad. Sci. USA
, vol.112
, pp. 15964-15969
-
-
Yan, L.1
Huang, L.2
Xu, L.3
Huang, J.4
Ma, F.5
Zhu, X.6
Tang, Y.7
Liu, M.8
Lian, Y.9
Liu, P.10
-
138
-
-
84940644487
-
Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications
-
Huang, L., Ma, F., Chapman, A., Lu, S., Xie, X.S. Single-Cell Whole-Genome Amplification and Sequencing: Methodology and Applications. Annu. Rev. Genom. Hum. Genet. 2015, 16, 79-102.
-
(2015)
Annu. Rev. Genom. Hum. Genet
, vol.16
, pp. 79-102
-
-
Huang, L.1
Ma, F.2
Chapman, A.3
Lu, S.4
Xie, X.S.5
-
139
-
-
84904346293
-
EuroGentest, Current issues in medically assisted reproduction and genetics in Europe: Research, clinical practice, ethics, legal issues and policy
-
Harper, J., Geraedts, J., Borry, P., Cornel, M.C., Dondorp, W.J., Gianaroli, L., Harton, G., Milachich, T., Kaariainen, H., Liebaers, I., et al. EuroGentest, Current issues in medically assisted reproduction and genetics in Europe: Research, clinical practice, ethics, legal issues and policy. Hum. Reprod. 2014, 29, 1603-1609.
-
(2014)
Hum. Reprod
, vol.29
, pp. 1603-1609
-
-
Harper, J.1
Geraedts, J.2
Borry, P.3
Cornel, M.C.4
Dondorp, W.J.5
Gianaroli, L.6
Harton, G.7
Milachich, T.8
Kaariainen, H.9
Liebaers, I.10
-
140
-
-
84875490185
-
Cancer genome landscapes
-
Vogelstein, B., Papadopoulos, N., Velculescu, V.E., Zhou, S., Diaz, L.A., Jr., Kinzler, K.W. Cancer genome landscapes. Science 2013, 339, 1546-1558.
-
(2013)
Science
, vol.339
, pp. 1546-1558
-
-
Vogelstein, B.1
Papadopoulos, N.2
Velculescu, V.E.3
Zhou, S.4
Diaz, L.A.5
Kinzler, K.W.6
-
141
-
-
44349191457
-
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
-
Campbell, P.J., Stephens, P.J., Pleasance, E.D., O’Meara, S., Li, H., Santarius, T., Stebbings, L.A., Leroy, C., Edkins, S., Hardy, C., et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat. Genet. 2008, 40, 722-729.
-
(2008)
Nat. Genet
, vol.40
, pp. 722-729
-
-
Campbell, P.J.1
Stephens, P.J.2
Pleasance, E.D.3
O’Meara, S.4
Li, H.5
Santarius, T.6
Stebbings, L.A.7
Leroy, C.8
Edkins, S.9
Hardy, C.10
-
142
-
-
55549101623
-
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
-
Ley, T.J., Mardis, E.R., Ding, L., Fulton, B., McLellan, M.D., Chen, K., Dooling, D., Dunford-Shore, B.H., McGrath, S., Hickenbotham, M., et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008, 456, 66-72.
-
(2008)
Nature
, vol.456
, pp. 66-72
-
-
Ley, T.J.1
Mardis, E.R.2
Ding, L.3
Fulton, B.4
McLellan, M.D.5
Chen, K.6
Dooling, D.7
Dunford-Shore, B.H.8
McGrath, S.9
Hickenbotham, M.10
-
143
-
-
70149093912
-
Recurring mutations found by sequencing an acute myeloid leukemia genome
-
Mardis, E.R., Ding, L., Dooling, D.J., Larson, D.E., McLellan, M.D., Chen, K., Koboldt, D.C., Fulton, R.S., Delehaunty, K.D., McGrath, S.D., et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 2009, 361, 1058-1066.
-
(2009)
N. Engl. J. Med
, vol.361
, pp. 1058-1066
-
-
Mardis, E.R.1
Ding, L.2
Dooling, D.J.3
Larson, D.E.4
McLellan, M.D.5
Chen, K.6
Koboldt, D.C.7
Fulton, R.S.8
Delehaunty, K.D.9
McGrath, S.D.10
-
144
-
-
70349969478
-
Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
-
Shah, S.P., Morin, R.D., Khattra, J., Prentice, L., Pugh, T., Burleigh, A., Delaney, A., Gelmon, K., Guliany, R., Senz, J., et al. Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Nature 2009, 461, 809-813.
-
(2009)
Nature
, vol.461
, pp. 809-813
-
-
Shah, S.P.1
Morin, R.D.2
Khattra, J.3
Prentice, L.4
Pugh, T.5
Burleigh, A.6
Delaney, A.7
Gelmon, K.8
Guliany, R.9
Senz, J.10
-
145
-
-
64749094310
-
The cancer genome
-
Stratton, M.R., Campbell, P.J., Futreal, P.A. The cancer genome. Nature 2009, 458, 719-724.
-
(2009)
Nature
, vol.458
, pp. 719-724
-
-
Stratton, M.R.1
Campbell, P.J.2
Futreal, P.A.3
-
146
-
-
72949119310
-
Complex landscapes of somatic rearrangement in human breast cancer genomes
-
Stephens, P.J., McBride, D.J., Lin, M.L., Varela, I., Pleasance, E.D., Simpson, J.T., Stebbings, L.A., Leroy, C., Edkins, S., Mudie, L.J., et al. Complex landscapes of somatic rearrangement in human breast cancer genomes. Nature 2009, 462, 1005-1010.
-
(2009)
Nature
, vol.462
, pp. 1005-1010
-
-
Stephens, P.J.1
McBride, D.J.2
Lin, M.L.3
Varela, I.4
Pleasance, E.D.5
Simpson, J.T.6
Stebbings, L.A.7
Leroy, C.8
Edkins, S.9
Mudie, L.J.10
-
147
-
-
84877028141
-
Comprehensive molecular portraits of human breast tumours
-
Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 2012, 490, 61-70.
-
(2012)
Nature
, vol.490
, pp. 61-70
-
-
-
148
-
-
84861541343
-
Mutational processes molding the genomes of 21 breast cancers
-
Nik-Zainal, S., Alexandrov, L.B., Wedge, D.C., van Loo, P., Greenman, C.D., Raine, K., Jones, D., Hinton, J., Marshall, J., Stebbings, L.A., et al. Mutational processes molding the genomes of 21 breast cancers. Cell 2012, 149, 979-993.
-
(2012)
Cell
, vol.149
, pp. 979-993
-
-
Nik-Zainal, S.1
Alexandrov, L.B.2
Wedge, D.C.3
Van Loo, P.4
Greenman, C.D.5
Raine, K.6
Jones, D.7
Hinton, J.8
Marshall, J.9
Stebbings, L.A.10
-
149
-
-
84861576201
-
The landscape of cancer genes and mutational processes in breast cancer
-
Stephens, P.J., Tarpey, P.S., Davies, H., van Loo, P., Greenman, C., Wedge, D.C., Nik-Zainal, S., Martin, S., Varela, I., Bignell, G.R., et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 2012, 486, 400-404.
-
(2012)
Nature
, vol.486
, pp. 400-404
-
-
Stephens, P.J.1
Tarpey, P.S.2
Davies, H.3
Van Loo, P.4
Greenman, C.5
Wedge, D.C.6
Nik-Zainal, S.7
Martin, S.8
Varela, I.9
Bignell, G.R.10
-
150
-
-
84943613527
-
Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer
-
Ciriello, G., Gatza, M.L., Beck, A.H., Wilkerson, M.D., Rhie, S.K., Pastore, A., Zhang, H., McLellan, M., Yau, C., Kandoth, C., et al. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell 2015, 163, 506-519.
-
(2015)
Cell
, vol.163
, pp. 506-519
-
-
Ciriello, G.1
Gatza, M.L.2
Beck, A.H.3
Wilkerson, M.D.4
Rhie, S.K.5
Pastore, A.6
Zhang, H.7
McLellan, M.8
Yau, C.9
Kandoth, C.10
-
151
-
-
84930455123
-
Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences
-
Kriegsmann, M., Endris, V., Wolf, T., Pfarr, N., Stenzinger, A., Loibl, S., Denkert, C., Schneeweiss, A., Budczies, J., Sinn, P., et al. Mutational profiles in triple-negative breast cancer defined by ultradeep multigene sequencing show high rates of PI3K pathway alterations and clinically relevant entity subgroup specific differences. Oncotarget 2014, 5, 9952-9965.
-
(2014)
Oncotarget
, vol.5
, pp. 9952-9965
-
-
Kriegsmann, M.1
Endris, V.2
Wolf, T.3
Pfarr, N.4
Stenzinger, A.5
Loibl, S.6
Denkert, C.7
Schneeweiss, A.8
Budczies, J.9
Sinn, P.10
-
152
-
-
84868320535
-
Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer
-
Liang, H., Cheung, L.W., Li, J., Ju, Z., Yu, S., Stemke-Hale, K., Dogruluk, T., Lu, Y., Liu, X., Gu, C., et al. Whole-exome sequencing combined with functional genomics reveals novel candidate driver cancer genes in endometrial cancer. Genome Res. 2012, 22, 2120-2129.
-
(2012)
Genome Res
, vol.22
, pp. 2120-2129
-
-
Liang, H.1
Cheung, L.W.2
Li, J.3
Ju, Z.4
Yu, S.5
Stemke-Hale, K.6
Dogruluk, T.7
Lu, Y.8
Liu, X.9
Gu, C.10
-
153
-
-
84877254190
-
Integrated genomic characterization of endometrial carcinoma
-
Cancer Genome Atlas Research Network
-
Cancer Genome Atlas Research Network, Kandoth, C., Schultz, N., Cherniack, A.D., Akbani, R., Liu, Y., Shen, H., Robertson, A.G., Pashtan, I., Shen, R., et al. Integrated genomic characterization of endometrial carcinoma. Nature 2013, 497, 67-73.
-
(2013)
Nature
, vol.497
, pp. 67-73
-
-
Kandoth, C.1
Schultz, N.2
Cherniack, A.D.3
Akbani, R.4
Liu, Y.5
Shen, H.6
Robertson, A.G.7
Pashtan, I.8
Shen, R.9
-
154
-
-
84988938855
-
Molecular characterization of serous ovarian carcinoma using a multigene next generation sequencing cancer panel approach
-
Ab Mutalib, N.S., Syafruddin, S.E., Md Zain, R.R., Mohd Dali, A.Z., Mohd Yunos, R.I., Saidin, S., Jamal, R., Mokhtar, N.M. Molecular characterization of serous ovarian carcinoma using a multigene next generation sequencing cancer panel approach. BMC Res. Notes 2014, 7, 805, doi:10.1186/1756-0500-7-805.
-
(2014)
BMC Res. Notes
, vol.7
, pp. 805
-
-
Ab Mutalib, N.S.1
Syafruddin, S.E.2
Md Zain, R.R.3
Mohd Dali, A.Z.4
Mohd Yunos, R.I.5
Saidin, S.6
Jamal, R.7
Mokhtar, N.M.8
-
155
-
-
79959838081
-
Integrated genomic analyses of ovarian carcinoma
-
Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature 2011, 474, 609-615.
-
(2011)
Nature
, vol.474
, pp. 609-615
-
-
-
156
-
-
84929610482
-
Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms
-
Mackenzie, R., Kommoss, S., Winterhoff, B.J., Kipp, B.R., Garcia, J.J., Voss, J., Halling, K., Karnezis, A., Senz, J., Yang, W., et al. Targeted deep sequencing of mucinous ovarian tumors reveals multiple overlapping RAS-pathway activating mutations in borderline and cancerous neoplasms. BMC Cancer 2015, 15, 415, doi:10.1186/s12885-015-1421-8.
-
(2015)
BMC Cancer
, vol.15
, pp. 415
-
-
Mackenzie, R.1
Kommoss, S.2
Winterhoff, B.J.3
Kipp, B.R.4
Garcia, J.J.5
Voss, J.6
Halling, K.7
Karnezis, A.8
Senz, J.9
Yang, W.10
-
157
-
-
85006213892
-
Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care
-
Muller, E., Brault, B., Holmes, A., Legros, A., Jeannot, E., Campitelli, M., Rousselin, A., Goardon, N., Frebourg, T., Krieger, S., et al. Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care. Cancer Med. 2015, 4, 1484-1493.
-
(2015)
Cancer Med
, vol.4
, pp. 1484-1493
-
-
Muller, E.1
Brault, B.2
Holmes, A.3
Legros, A.4
Jeannot, E.5
Campitelli, M.6
Rousselin, A.7
Goardon, N.8
Frebourg, T.9
Krieger, S.10
-
158
-
-
84937965669
-
Endoscopic ultrasound fine-needle aspiration cytology mutation profiling using targeted next-generation sequencing: Personalized care for rectal cancer
-
Gleeson, F.C., Kipp, B.R., Voss, J.S., Campion, M.B., Minot, D.M., Tu, Z.J., Klee, E.W., Sciallis, A.P., Graham, R.P., Lazaridis, K.N., et al. Endoscopic ultrasound fine-needle aspiration cytology mutation profiling using targeted next-generation sequencing: Personalized care for rectal cancer. Am. J. Clin. Pathol. 2015, 143, 879-888.
-
(2015)
Am. J. Clin. Pathol
, vol.143
, pp. 879-888
-
-
Gleeson, F.C.1
Kipp, B.R.2
Voss, J.S.3
Campion, M.B.4
Minot, D.M.5
Tu, Z.J.6
Klee, E.W.7
Sciallis, A.P.8
Graham, R.P.9
Lazaridis, K.N.10
-
159
-
-
84863922124
-
Comprehensive molecular characterization of human colon and rectal cancer
-
Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012, 487, 330-337.
-
(2012)
Nature
, vol.487
, pp. 330-337
-
-
-
160
-
-
84898464134
-
Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing
-
Zhang, L., Chen, L., Sah, S., Latham, G.J., Patel, R., Song, Q., Koeppen, H., Tam, R., Schleifman, E., Mashhedi, H., et al. Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing. Oncologist 2014, 19, 336-343.
-
(2014)
Oncologist
, vol.19
, pp. 336-343
-
-
Zhang, L.1
Chen, L.2
Sah, S.3
Latham, G.J.4
Patel, R.5
Song, Q.6
Koeppen, H.7
Tam, R.8
Schleifman, E.9
Mashhedi, H.10
-
161
-
-
84919363528
-
Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients
-
Malapelle, U., Vigliar, E., Sgariglia, R., Bellevicine, C., Colarossi, L., Vitale, D., Pallante, P., Troncone, G. Ion Torrent next-generation sequencing for routine identification of clinically relevant mutations in colorectal cancer patients. J. Clin. Pathol. 2015, 68, 64-68.
-
(2015)
J. Clin. Pathol
, vol.68
, pp. 64-68
-
-
Malapelle, U.1
Vigliar, E.2
Sgariglia, R.3
Bellevicine, C.4
Colarossi, L.5
Vitale, D.6
Pallante, P.7
Troncone, G.8
-
162
-
-
84958811509
-
Targeted next-generation sequencing of locally advanced squamous cell carcinomas of the head and neck reveals druggable targets for improving adjuvant chemoradiation
-
Tinhofer, I., Budach, V., Saki, M., Konschak, R., Niehr, F., Johrens, K., Weichert, W., Linge, A., Lohaus, F., Krause, M., et al. Targeted next-generation sequencing of locally advanced squamous cell carcinomas of the head and neck reveals druggable targets for improving adjuvant chemoradiation. Eur. J. Cancer 2016, 57, 78-86.
-
(2016)
Eur. J. Cancer
, vol.57
, pp. 78-86
-
-
Tinhofer, I.1
Budach, V.2
Saki, M.3
Konschak, R.4
Niehr, F.5
Johrens, K.6
Weichert, W.7
Linge, A.8
Lohaus, F.9
Krause, M.10
-
163
-
-
84923197605
-
Comprehensive genomic characterization of head and neck squamous cell carcinomas
-
Cancer Genome Atlas Network. Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature 2015, 517, 576-582.
-
(2015)
Nature
, vol.517
, pp. 576-582
-
-
-
164
-
-
84939972637
-
Mutation and Transcriptional Profiling of Formalin-Fixed Paraffin Embedded Specimens as Companion Methods to Immunohistochemistry for Determining Therapeutic Targets in Oropharyngeal Squamous Cell Carcinoma (OPSCC): A Pilot of Proof of Principle
-
Saba, N.F., Wilson, M., Doho, G., DaSilva, J., Benjamin Isett, R., Newman, S., Chen, Z.G., Magliocca, K., Rossi, M.R. Mutation and Transcriptional Profiling of Formalin-Fixed Paraffin Embedded Specimens as Companion Methods to Immunohistochemistry for Determining Therapeutic Targets in Oropharyngeal Squamous Cell Carcinoma (OPSCC): A Pilot of Proof of Principle. Head Neck Pathol. 2015, 9, 223-235.
-
(2015)
Head Neck Pathol
, vol.9
, pp. 223-235
-
-
Saba, N.F.1
Wilson, M.2
Doho, G.3
Dasilva, J.4
Benjamin Isett, R.5
Newman, S.6
Chen, Z.G.7
Magliocca, K.8
Rossi, M.R.9
-
165
-
-
84962605896
-
An Ultra-Deep Targeted Sequencing Gene Panel Improves the Prognostic Stratification of Patients with Advanced Oral Cavity Squamous Cell Carcinoma
-
Liao, C.T., Chen, S.J., Lee, L.Y., Hsueh, C., Yang, L.Y., Lin, C.Y., Fan, K.H., Wang, H.M., Ng, S.H., Lin, C.H., et al. An Ultra-Deep Targeted Sequencing Gene Panel Improves the Prognostic Stratification of Patients with Advanced Oral Cavity Squamous Cell Carcinoma. Medicine 2016, 95, e2751 doi:10.1097/MD.0000000000002751.
-
(2016)
Medicine
, vol.95
-
-
Liao, C.T.1
Chen, S.J.2
Lee, L.Y.3
Hsueh, C.4
Yang, L.Y.5
Lin, C.Y.6
Fan, K.H.7
Wang, H.M.8
Ng, S.H.9
Lin, C.H.10
-
166
-
-
84903713331
-
High-throughput mutation profiling identifies novel molecular dysregulation in high-grade intraepithelial neoplasia and early gastric cancers
-
Fassan, M., Simbolo, M., Bria, E., Mafficini, A., Pilotto, S., Capelli, P., Bencivenga, M., Pecori, S., Luchini, C., Neves, D., et al. High-throughput mutation profiling identifies novel molecular dysregulation in high-grade intraepithelial neoplasia and early gastric cancers. Gastric Cancer 2014, 17, 442-449.
-
(2014)
Gastric Cancer
, vol.17
, pp. 442-449
-
-
Fassan, M.1
Simbolo, M.2
Bria, E.3
Mafficini, A.4
Pilotto, S.5
Capelli, P.6
Bencivenga, M.7
Pecori, S.8
Luchini, C.9
Neves, D.10
-
167
-
-
84904252814
-
Genetic mutation analysis of human gastric adenocarcinomas using ion torrent sequencing platform
-
Xu, Z., Huo, X., Ye, H., Tang, C., Nandakumar, V., Lou, F., Zhang, D., Dong, H., Sun, H., Jiang, S., et al. Genetic mutation analysis of human gastric adenocarcinomas using ion torrent sequencing platform. PLoS ONE 2014, 9, e100442.
-
(2014)
Plos ONE
, vol.9
-
-
Xu, Z.1
Huo, X.2
Ye, H.3
Tang, C.4
Nandakumar, V.5
Lou, F.6
Zhang, D.7
Dong, H.8
Sun, H.9
Jiang, S.10
-
168
-
-
84946553595
-
Variant Profiling of Candidate Genes in Pancreatic Ductal Adenocarcinoma
-
Huang, J., Lohr, J.M., Nilsson, M., Segersvard, R., Matsson, H., Verbeke, C., Heuchel, R., Kere, J., Iafrate, A.J., Zheng, Z., et al. Variant Profiling of Candidate Genes in Pancreatic Ductal Adenocarcinoma. Clin. Chem. 2015, 61, 1408-1416.
-
(2015)
Clin. Chem
, vol.61
, pp. 1408-1416
-
-
Huang, J.1
Lohr, J.M.2
Nilsson, M.3
Segersvard, R.4
Matsson, H.5
Verbeke, C.6
Heuchel, R.7
Kere, J.8
Iafrate, A.J.9
Zheng, Z.10
-
169
-
-
78049380554
-
The patterns and dynamics of genomic instability in metastatic pancreatic cancer
-
Campbell, P.J., Yachida, S., Mudie, L.J., Stephens, P.J., Pleasance, E.D., Stebbings, L.A., Morsberger, L.A., Latimer, C., McLaren, S., Lin, M.L., et al. The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature 2010, 467, 1109-1113.
-
(2010)
Nature
, vol.467
, pp. 1109-1113
-
-
Campbell, P.J.1
Yachida, S.2
Mudie, L.J.3
Stephens, P.J.4
Pleasance, E.D.5
Stebbings, L.A.6
Morsberger, L.A.7
Latimer, C.8
McLaren, S.9
Lin, M.L.10
-
170
-
-
84928431129
-
GNAS and KRAS Mutations Define Separate Progression Pathways in Intraductal Papillary Mucinous Neoplasm-Associated Carcinoma
-
Tan, M.C., Basturk, O., Brannon, A.R., Bhanot, U., Scott, S.N., Bouvier, N., LaFemina, J., Jarnagin, W.R., Berger, M.F., Klimstra, D., et al. GNAS and KRAS Mutations Define Separate Progression Pathways in Intraductal Papillary Mucinous Neoplasm-Associated Carcinoma. J. Am. Coll. Surg. 2015, 220, 845 e1-854e1.
-
(2015)
J. Am. Coll. Surg
, vol.220
-
-
Tan, M.C.1
Basturk, O.2
Brannon, A.R.3
Bhanot, U.4
Scott, S.N.5
Bouvier, N.6
Lafemina, J.7
Jarnagin, W.R.8
Berger, M.F.9
Klimstra, D.10
-
171
-
-
84988597056
-
High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma
-
Ku, B.M., Jung, H.A., Sun, J.M., Ko, Y.H., Jeong, H.S., Son, Y.I., Baek, C.H., Park, K., Ahn, M.J. High-throughput profiling identifies clinically actionable mutations in salivary duct carcinoma. J. Transl. Med. 2014, 12, 299, doi:10.1186/s12967-014-0299-6.
-
(2014)
J. Transl. Med
, vol.12
, pp. 299
-
-
Ku, B.M.1
Jung, H.A.2
Sun, J.M.3
Ko, Y.H.4
Jeong, H.S.5
Son, Y.I.6
Baek, C.H.7
Park, K.8
Ahn, M.J.9
-
172
-
-
84910630641
-
High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer
-
Kim, S., Lee, J., Hong, M.E., Do, I.G., Kang, S.Y., Ha, S.Y., Kim, S.T., Park, S.H., Kang, W.K., Choi, M.G., et al. High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer. PLoS ONE 2014, 9, e111693.
-
(2014)
Plos ONE
, vol.9
-
-
Kim, S.1
Lee, J.2
Hong, M.E.3
Do, I.G.4
Kang, S.Y.5
Ha, S.Y.6
Kim, S.T.7
Park, S.H.8
Kang, W.K.9
Choi, M.G.10
-
173
-
-
84907270779
-
Comprehensive molecular characterization of gastric adenocarcinoma
-
Cancer Genome Atlas Research Network. Comprehensive molecular characterization of gastric adenocarcinoma. Nature 2014, 513, 202-209.
-
(2014)
Nature
, vol.513
, pp. 202-209
-
-
-
174
-
-
84923124570
-
Global transcriptome and sequenome analysis of formalin-fixed salivary epithelial-myoepithelial carcinoma specimens
-
Fonseca, I., Bell, A., Wani, K., Bell, D. Global transcriptome and sequenome analysis of formalin-fixed salivary epithelial-myoepithelial carcinoma specimens. Genes Chromosomes Cancer 2015, 54, 249-259.
-
(2015)
Genes Chromosomes Cancer
, vol.54
, pp. 249-259
-
-
Fonseca, I.1
Bell, A.2
Wani, K.3
Bell, D.4
-
175
-
-
84924051433
-
Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas
-
Li-Chang, H.H., Kasaian, K., Ng, Y., Lum, A., Kong, E., Lim, H., Jones, S.J., Huntsman, D.G., Schaeffer, D.F., Yip, S. Retrospective review using targeted deep sequencing reveals mutational differences between gastroesophageal junction and gastric carcinomas. BMC Cancer 2015, 15, 32, doi:10.1186/s12885-015-1021-7.
-
(2015)
BMC Cancer
, vol.15
, pp. 32
-
-
Li-Chang, H.H.1
Kasaian, K.2
Ng, Y.3
Lum, A.4
Kong, E.5
Lim, H.6
Jones, S.J.7
Huntsman, D.G.8
Schaeffer, D.F.9
Yip, S.10
-
176
-
-
84942882429
-
Mutational analysis by next generation sequencing of gastric type dysplasia occurring in hyperplastic polyps of the stomach: Mutations in gastric hyperplastic polyps
-
Salomao, M., Luna, A.M., Sepulveda, J.L., Sepulveda, A.R. Mutational analysis by next generation sequencing of gastric type dysplasia occurring in hyperplastic polyps of the stomach: Mutations in gastric hyperplastic polyps. Exp. Mol. Pathol. 2015, 99, 468-473.
-
(2015)
Exp. Mol. Pathol.
, vol.99
, pp. 468-473
-
-
Salomao, M.1
Luna, A.M.2
Sepulveda, J.L.3
Sepulveda, A.R.4
-
177
-
-
84916898189
-
Kinase genotype analysis of gastric gastrointestinal stromal tumor cytology samples using targeted next-generation sequencing
-
Gleeson, F.C., Kipp, B.R., Kerr, S.E., Voss, J.S., Graham, R.P., Campion, M.B., Minot, D.M., Tu, Z.J., Klee, E.W., Lazaridis, K.N., et al. Kinase genotype analysis of gastric gastrointestinal stromal tumor cytology samples using targeted next-generation sequencing. Clin. Gastroenterol. Hepatol. 2015, 13, 202-206.
-
(2015)
Clin. Gastroenterol. Hepatol
, vol.13
, pp. 202-206
-
-
Gleeson, F.C.1
Kipp, B.R.2
Kerr, S.E.3
Voss, J.S.4
Graham, R.P.5
Campion, M.B.6
Minot, D.M.7
Tu, Z.J.8
Klee, E.W.9
Lazaridis, K.N.10
-
178
-
-
84866894408
-
Comprehensive genomic characterization of squamous cell lung cancers
-
Cancer Genome Atlas Research Network. Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012, 489, 519-525.
-
(2012)
Nature
, vol.489
, pp. 519-525
-
-
-
179
-
-
84893411121
-
Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel
-
Scarpa, A., Sikora, K., Fassan, M., Rachiglio, A.M., Cappellesso, R., Antonello, D., Amato, E., Mafficini, A., Lambiase, M., Esposito, C., et al. Molecular typing of lung adenocarcinoma on cytological samples using a multigene next generation sequencing panel. PLoS ONE 2013, 8, e80478.
-
(2013)
Plos ONE
, vol.8
-
-
Scarpa, A.1
Sikora, K.2
Fassan, M.3
Rachiglio, A.M.4
Cappellesso, R.5
Antonello, D.6
Amato, E.7
Mafficini, A.8
Lambiase, M.9
Esposito, C.10
-
180
-
-
84905029258
-
Comprehensive molecular profiling of lung adenocarcinoma
-
Cancer Genome Atlas Research Network. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014, 511, 543-550.
-
(2014)
Nature
, vol.511
, pp. 543-550
-
-
-
181
-
-
84938746748
-
Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma
-
Preusser, M., Berghoff, A.S., Koller, R., Zielinski, C.C., Hainfellner, J.A., Liebmann-Reindl, S., Popitsch, N., Geier, C.B., Streubel, B., Birner, P. Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma. Eur. J. Cancer 2015, 51, 1803-1811.
-
(2015)
Eur. J. Cancer
, vol.51
, pp. 1803-1811
-
-
Preusser, M.1
Berghoff, A.S.2
Koller, R.3
Zielinski, C.C.4
Hainfellner, J.A.5
Liebmann-Reindl, S.6
Popitsch, N.7
Geier, C.B.8
Streubel, B.9
Birner, P.10
-
182
-
-
84866410479
-
Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing
-
Imielinski, M., Berger, A.H., Hammerman, P.S., Hernandez, B., Pugh, T.J., Hodis, E., Cho, J., Suh, J., Capelletti, M., Sivachenko, A., et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012, 150, 1107-1120.
-
(2012)
Cell
, vol.150
, pp. 1107-1120
-
-
Imielinski, M.1
Berger, A.H.2
Hammerman, P.S.3
Hernandez, B.4
Pugh, T.J.5
Hodis, E.6
Cho, J.7
Suh, J.8
Capelletti, M.9
Sivachenko, A.10
-
183
-
-
84922572706
-
Clinical next-generation sequencing in patients with non-small cell lung cancer
-
Hagemann, I.S., Devarakonda, S., Lockwood, C.M., Spencer, D.H., Guebert, K., Bredemeyer, A.J., Al-Kateb, H., Nguyen, T.T., Duncavage, E.J., Cottrell, C.E., et al. Clinical next-generation sequencing in patients with non-small cell lung cancer. Cancer 2015, 121, 631-639.
-
(2015)
Cancer
, vol.121
, pp. 631-639
-
-
Hagemann, I.S.1
Devarakonda, S.2
Lockwood, C.M.3
Spencer, D.H.4
Guebert, K.5
Bredemeyer, A.J.6
Al-Kateb, H.7
Nguyen, T.T.8
Duncavage, E.J.9
Cottrell, C.E.10
-
184
-
-
84949991007
-
Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets
-
Sahm, F., Schrimpf, D., Jones, D.T., Meyer, J., Kratz, A., Reuss, D., Capper, D., Koelsche, C., Korshunov, A., Wiestler, B., et al. Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets. Acta Neuropathol. 2016, 131, 903-910.
-
(2016)
Acta Neuropathol
, vol.131
, pp. 903-910
-
-
Sahm, F.1
Schrimpf, D.2
Jones, D.T.3
Meyer, J.4
Kratz, A.5
Reuss, D.6
Capper, D.7
Koelsche, C.8
Korshunov, A.9
Wiestler, B.10
-
185
-
-
84955561447
-
Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma
-
Ceccarelli, M., Barthel, F.P., Malta, T.M., Sabedot, T.S., Salama, S.R., Murray, B.A., Morozova, O., Newton, Y., Radenbaugh, A., Pagnotta, S.M., et al. Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma. Cell 2016, 164, 550-563.
-
(2016)
Cell
, vol.164
, pp. 550-563
-
-
Ceccarelli, M.1
Barthel, F.P.2
Malta, T.M.3
Sabedot, T.S.4
Salama, S.R.5
Murray, B.A.6
Morozova, O.7
Newton, Y.8
Radenbaugh, A.9
Pagnotta, S.M.10
-
186
-
-
84964354713
-
Molecular diagnostics of gliomas using next generation sequencing of a glioma-tailored gene panel
-
Zacher, A., Kaulich, K., Stepanow, S., Wolter, M., Kohrer, K., Felsberg, J., Malzkorn, B., Reifenberger, G. Molecular diagnostics of gliomas using next generation sequencing of a glioma-tailored gene panel. Brain Pathol. 2016, doi:10.1111/bpa.12367.
-
(2016)
Brain Pathol
-
-
Zacher, A.1
Kaulich, K.2
Stepanow, S.3
Wolter, M.4
Kohrer, K.5
Felsberg, J.6
Malzkorn, B.7
Reifenberger, G.8
-
187
-
-
84932628860
-
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas
-
Cancer Genome Atlas Research Network
-
Cancer Genome Atlas Research Network, Brat, D.J., Verhaak, R.G., Aldape, K.D., Yung, W.K., Salama, S.R., Cooper, L.A., Rheinbay, E., Miller, C.R., Vitucci, M., et al. Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. N. Engl. J. Med. 2015, 372, 2481-2498.
-
(2015)
N. Engl. J. Med
, vol.372
, pp. 2481-2498
-
-
Brat, D.J.1
Verhaak, R.G.2
Aldape, K.D.3
Yung, W.K.4
Salama, S.R.5
Cooper, L.A.6
Rheinbay, E.7
Miller, C.R.8
Vitucci, M.9
-
188
-
-
84885074034
-
The somatic genomic landscape of glioblastoma
-
Brennan, C.W., Verhaak, R.G., McKenna, A., Campos, B., Noushmehr, H., Salama, S.R., Zheng, S., Chakravarty, D., Sanborn, J.Z., Berman, S.H., et al. The somatic genomic landscape of glioblastoma. Cell 2013, 155, 462-477.
-
(2013)
Cell
, vol.155
, pp. 462-477
-
-
Brennan, C.W.1
Verhaak, R.G.2
McKenna, A.3
Campos, B.4
Noushmehr, H.5
Salama, S.R.6
Zheng, S.7
Chakravarty, D.8
Sanborn, J.Z.9
Berman, S.H.10
-
189
-
-
84904282544
-
Multigene profiling to identify alternative treatment options for glioblastoma: A pilot study
-
Tabone, T., Abuhusain, H.J., Nowak, A.K., Australian, G., Erber, W.N., McDonald, K.L. Multigene profiling to identify alternative treatment options for glioblastoma: A pilot study. J. Clin. Pathol. 2014, 67, 550-555.
-
(2014)
J. Clin. Pathol
, vol.67
, pp. 550-555
-
-
Tabone, T.1
Abuhusain, H.J.2
Nowak, A.K.3
Australian, G.4
Erber, W.N.5
McDonald, K.L.6
-
190
-
-
84929079763
-
Identification of variants in primary and recurrent glioblastoma using a cancer-specific gene panel and whole exome sequencing
-
Virk, S.M., Gibson, R.M., Quinones-Mateu, M.E., Barnholtz-Sloan, J.S. Identification of variants in primary and recurrent glioblastoma using a cancer-specific gene panel and whole exome sequencing. PLoS ONE 2015, 10, e0124178.
-
(2015)
Plos ONE
, vol.10
-
-
Virk, S.M.1
Gibson, R.M.2
Quinones-Mateu, M.E.3
Barnholtz-Sloan, J.S.4
-
191
-
-
84879890360
-
Comprehensive molecular characterization of clear cell renal cell carcinoma
-
Cancer Genome Atlas Research Network. Comprehensive molecular characterization of clear cell renal cell carcinoma. Nature 2013, 499, 43-49.
-
(2013)
Nature
, vol.499
, pp. 43-49
-
-
-
192
-
-
84954286974
-
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma
-
Cancer Genome Atlas Research Network
-
Cancer Genome Atlas Research Network, Linehan, W.M., Spellman, P.T., Ricketts, C.J., Creighton, C.J., Fei, S.S., Davis, C., Wheeler, D.A., Murray, B.A., Schmidt, L., et al. Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma. N. Engl. J. Med. 2016, 374, 135-145.
-
(2016)
N. Engl. J. Med
, vol.374
, pp. 135-145
-
-
Linehan, W.M.1
Spellman, P.T.2
Ricketts, C.J.3
Creighton, C.J.4
Fei, S.S.5
Davis, C.6
Wheeler, D.A.7
Murray, B.A.8
Schmidt, L.9
-
193
-
-
84897022815
-
Comprehensive molecular characterization of urothelial bladder carcinoma
-
Cancer Genome Atlas Research Network. Comprehensive molecular characterization of urothelial bladder carcinoma. Nature 2014, 507, 315-322.
-
(2014)
Nature
, vol.507
, pp. 315-322
-
-
-
194
-
-
84908695210
-
The somatic genomic landscape of chromophobe renal cell carcinoma
-
Davis, C.F., Ricketts, C.J., Wang, M., Yang, L., Cherniack, A.D., Shen, H., Buhay, C., Kang, H., Kim, S.C., Fahey, C.C., et al. The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell 2014, 26, 319-330.
-
(2014)
Cancer Cell
, vol.26
, pp. 319-330
-
-
Davis, C.F.1
Ricketts, C.J.2
Wang, M.3
Yang, L.4
Cherniack, A.D.5
Shen, H.6
Buhay, C.7
Kang, H.8
Kim, S.C.9
Fahey, C.C.10
-
195
-
-
84920639883
-
Succinate dehydrogenase-deficient renal cell carcinoma: Detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma
-
Williamson, S.R., Eble, J.N., Amin, M.B., Gupta, N.S., Smith, S.C., Sholl, L.M., Montironi, R., Hirsch, M.S., Hornick, J.L. Succinate dehydrogenase-deficient renal cell carcinoma: Detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. Mod. Pathol. 2015, 28, 80-94.
-
(2015)
Mod. Pathol
, vol.28
, pp. 80-94
-
-
Williamson, S.R.1
Eble, J.N.2
Amin, M.B.3
Gupta, N.S.4
Smith, S.C.5
Sholl, L.M.6
Montironi, R.7
Hirsch, M.S.8
Hornick, J.L.9
-
196
-
-
85018913616
-
Wide spetcrum mutational analysis of metastatic renal cell cancer: A retrospective next generation sequencing approach
-
Fiorentino, M., Gruppioni, E., Massari, F., Giunchi, F., Altimari, A., Ciccarese, C., Bimbatti, D., Scarpa, A., Iacovelli, R., Porta, C., et al. Wide spetcrum mutational analysis of metastatic renal cell cancer: A retrospective next generation sequencing approach. Oncotarget 2016, doi:10.18632/oncotarget.12551.
-
(2016)
Oncotarget
-
-
Fiorentino, M.1
Gruppioni, E.2
Massari, F.3
Giunchi, F.4
Altimari, A.5
Ciccarese, C.6
Bimbatti, D.7
Scarpa, A.8
Iacovelli, R.9
Porta, C.10
-
197
-
-
84908335908
-
Integrated genomic characterization of papillary thyroid carcinoma
-
Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell 2014, 159, 676-690.
-
(2014)
Cell
, vol.159
, pp. 676-690
-
-
-
198
-
-
84913605660
-
Highly accurate diagnosis of cancer in thyroid nodules with follicular neoplasm/suspicious for a follicular neoplasm cytology by ThyroSeq v2 next-generation sequencing assay
-
Nikiforov, Y.E., Carty, S.E., Chiosea, S.I., Coyne, C., Duvvuri, U., Ferris, R.L., Gooding, W.E., Hodak, S.P., LeBeau, S.O., Ohori, N.P., et al. Highly accurate diagnosis of cancer in thyroid nodules with follicular neoplasm/suspicious for a follicular neoplasm cytology by ThyroSeq v2 next-generation sequencing assay. Cancer 2014, 120, 3627-3634.
-
(2014)
Cancer
, vol.120
, pp. 3627-3634
-
-
Nikiforov, Y.E.1
Carty, S.E.2
Chiosea, S.I.3
Coyne, C.4
Duvvuri, U.5
Ferris, R.L.6
Gooding, W.E.7
Hodak, S.P.8
Lebeau, S.O.9
Ohori, N.P.10
-
199
-
-
84964027396
-
Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay
-
Picarsic, J.L., Buryk, M.A., Ozolek, J., Ranganathan, S., Monaco, S.E., Simons, J.P., Witchel, S.F., Gurtunca, N., Joyce, J., Zhong, S., et al. Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay. Pediatr. Dev. Pathol. 2016, 19, 115-122.
-
(2016)
Pediatr. Dev. Pathol
, vol.19
, pp. 115-122
-
-
Picarsic, J.L.1
Buryk, M.A.2
Ozolek, J.3
Ranganathan, S.4
Monaco, S.E.5
Simons, J.P.6
Witchel, S.F.7
Gurtunca, N.8
Joyce, J.9
Zhong, S.10
-
200
-
-
84864255882
-
The origin and evolution of mutations in acute myeloid leukemia
-
Welch, J.S., Ley, T.J., Link, D.C., Miller, C.A., Larson, D.E., Koboldt, D.C., Wartman, L.D., Lamprecht, T.L., Liu, F., Xia, J., et al. The origin and evolution of mutations in acute myeloid leukemia. Cell 2012, 150, 264-278.
-
(2012)
Cell
, vol.150
, pp. 264-278
-
-
Welch, J.S.1
Ley, T.J.2
Link, D.C.3
Miller, C.A.4
Larson, D.E.5
Koboldt, D.C.6
Wartman, L.D.7
Lamprecht, T.L.8
Liu, F.9
Xia, J.10
-
201
-
-
84878372012
-
Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
-
Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N. Engl. J. Med. 2013, 368, 2059-2074.
-
(2013)
N. Engl. J. Med
, vol.368
, pp. 2059-2074
-
-
-
202
-
-
84940099833
-
Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib
-
Patel, K.P., Newberry, K.J., Luthra, R., Jabbour, E., Pierce, S., Cortes, J., Singh, R., Mehrotra, M., Routbort, M.J., Luthra, M., et al. Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib. Blood 2015, 126, 790-797.
-
(2015)
Blood
, vol.126
, pp. 790-797
-
-
Patel, K.P.1
Newberry, K.J.2
Luthra, R.3
Jabbour, E.4
Pierce, S.5
Cortes, J.6
Singh, R.7
Mehrotra, M.8
Routbort, M.J.9
Luthra, M.10
-
203
-
-
80054010617
-
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts
-
Papaemmanuil, E., Cazzola, M., Boultwood, J., Malcovati, L., Vyas, P., Bowen, D., Pellagatti, A., Wainscoat, J.S., Hellstrom-Lindberg, E., Gambacorti-Passerini, C., et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N. Engl. J. Med. 2011, 365, 1384-1395.
-
(2011)
N. Engl. J. Med
, vol.365
, pp. 1384-1395
-
-
Papaemmanuil, E.1
Cazzola, M.2
Boultwood, J.3
Malcovati, L.4
Vyas, P.5
Bowen, D.6
Pellagatti, A.7
Wainscoat, J.S.8
Hellstrom-Lindberg, E.9
Gambacorti-Passerini, C.10
-
204
-
-
84901411165
-
Prognostic value of deep sequencing method for minimal residual disease detection in multiple myeloma
-
Martinez-Lopez, J., Lahuerta, J.J., Pepin, F., Gonzalez, M., Barrio, S., Ayala, R., Puig, N., Montalban, M.A., Paiva, B., Weng, L., et al. Prognostic value of deep sequencing method for minimal residual disease detection in multiple myeloma. Blood 2014, 123, 3073-3079.
-
(2014)
Blood
, vol.123
, pp. 3073-3079
-
-
Martinez-Lopez, J.1
Lahuerta, J.J.2
Pepin, F.3
Gonzalez, M.4
Barrio, S.5
Ayala, R.6
Puig, N.7
Montalban, M.A.8
Paiva, B.9
Weng, L.10
-
205
-
-
84871525322
-
Deep-sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia
-
Faham, M., Zheng, J., Moorhead, M., Carlton, V.E., Stow, P., Coustan-Smith, E., Pui, C.H., Campana, D. Deep-sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia. Blood 2012, 120, 5173-5180.
-
(2012)
Blood
, vol.120
, pp. 5173-5180
-
-
Faham, M.1
Zheng, J.2
Moorhead, M.3
Carlton, V.E.4
Stow, P.5
Coustan-Smith, E.6
Pui, C.H.7
Campana, D.8
-
206
-
-
84935009372
-
Genomic Classification of Cutaneous Melanoma
-
Cancer Genome Atlas Network. Genomic Classification of Cutaneous Melanoma. Cell 2015, 161, 1681-1696.
-
(2015)
Cell
, vol.161
, pp. 1681-1696
-
-
-
207
-
-
84946195510
-
The Molecular Taxonomy of Primary Prostate Cancer
-
Cancer Genome Atlas Research Network. The Molecular Taxonomy of Primary Prostate Cancer. Cell 2015, 163, 1011-1025.
-
(2015)
Cell
, vol.163
, pp. 1011-1025
-
-
-
208
-
-
84919800397
-
Mutation profiling in cholangiocarcinoma: Prognostic and therapeutic implications
-
Churi, C.R., Shroff, R., Wang, Y., Rashid, A., Kang, H.C., Weatherly, J., Zuo, M., Zinner, R., Hong, D., Meric-Bernstam, F., et al. Mutation profiling in cholangiocarcinoma: Prognostic and therapeutic implications. PLoS ONE 2014, 9, e115383.
-
(2014)
Plos ONE
, vol.9
-
-
Churi, C.R.1
Shroff, R.2
Wang, Y.3
Rashid, A.4
Kang, H.C.5
Weatherly, J.6
Zuo, M.7
Zinner, R.8
Hong, D.9
Meric-Bernstam, F.10
-
209
-
-
84908460816
-
Genetic profiling of thymic carcinoma using targeted next-generation sequencing
-
Shitara, M., Okuda, K., Suzuki, A., Tatematsu, T., Hikosaka, Y., Moriyama, S., Sasaki, H., Fujii, Y., Yano, M. Genetic profiling of thymic carcinoma using targeted next-generation sequencing. Lung Cancer 2014, 86, 174-179.
-
(2014)
Lung Cancer
, vol.86
, pp. 174-179
-
-
Shitara, M.1
Okuda, K.2
Suzuki, A.3
Tatematsu, T.4
Hikosaka, Y.5
Moriyama, S.6
Sasaki, H.7
Fujii, Y.8
Yano, M.9
-
210
-
-
84938287128
-
Targeted next-generation sequencing of cancer genes in advanced stage malignant pleural mesothelioma: A retrospective study
-
Lo Iacono, M., Monica, V., Righi, L., Grosso, F., Libener, R., Vatrano, S., Bironzo, P., Novello, S., Musmeci, L., Volante, M., et al. Targeted next-generation sequencing of cancer genes in advanced stage malignant pleural mesothelioma: A retrospective study. J. Thorac. Oncol. 2015, 10, 492-499.
-
(2015)
J. Thorac. Oncol
, vol.10
, pp. 492-499
-
-
Lo Iacono, M.1
Monica, V.2
Righi, L.3
Grosso, F.4
Libener, R.5
Vatrano, S.6
Bironzo, P.7
Novello, S.8
Musmeci, L.9
Volante, M.10
-
211
-
-
84975223445
-
Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma
-
Zheng, S., Cherniack, A.D., Dewal, N., Moffitt, R.A., Danilova, L., Murray, B.A., Lerario, A.M., Else, T., Knijnenburg, T.A., Ciriello, G., et al. Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma. Cancer Cell 2016, 29, 723-736.
-
(2016)
Cancer Cell
, vol.29
, pp. 723-736
-
-
Zheng, S.1
Cherniack, A.D.2
Dewal, N.3
Moffitt, R.A.4
Danilova, L.5
Murray, B.A.6
Lerario, A.M.7
Else, T.8
Knijnenburg, T.A.9
Ciriello, G.10
-
212
-
-
84959507437
-
Next generation sequencing of Cytokeratin 20-negative Merkel cell carcinoma reveals ultraviolet-signature mutations and recurrent TP53 and RB1 inactivation
-
Harms, P.W., Collie, A.M., Hovelson, D.H., Cani, A.K., Verhaegen, M.E., Patel, R.M., Fullen, D.R., Omata, K., Dlugosz, A.A., Tomlins, S.A., et al. Next generation sequencing of Cytokeratin 20-negative Merkel cell carcinoma reveals ultraviolet-signature mutations and recurrent TP53 and RB1 inactivation. Mod. Pathol. 2016, 29, 240-248.
-
(2016)
Mod. Pathol
, vol.29
, pp. 240-248
-
-
Harms, P.W.1
Collie, A.M.2
Hovelson, D.H.3
Cani, A.K.4
Verhaegen, M.E.5
Patel, R.M.6
Fullen, D.R.7
Omata, K.8
Dlugosz, A.A.9
Tomlins, S.A.10
-
213
-
-
84964054544
-
Integrating Molecular Testing in the Diagnosis and Management of Children with Thyroid Lesions. Pediatr. Dev
-
Ballester, L.Y., Sarabia, S.F., Sayeed, H., Patel, N., Baalwa, J., Athanassaki, I., Hernandez, J.A., Fang, E., Quintanilla, N.M., Roy, A., et al. Integrating Molecular Testing in the Diagnosis and Management of Children with Thyroid Lesions. Pediatr. Dev. Pathol. 2016, 19, 94-100.
-
(2016)
Pathol
, vol.19
, pp. 94-100
-
-
Ballester, L.Y.1
Sarabia, S.F.2
Sayeed, H.3
Patel, N.4
Baalwa, J.5
Athanassaki, I.6
Hernandez, J.A.7
Fang, E.8
Quintanilla, N.M.9
Roy, A.10
-
214
-
-
85010430878
-
Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study
-
Harris, M.H., DuBois, S.G., Glade Bender, J.L., Kim, A., Crompton, B.D., Parker, E., Dumont, I.P., Hong, A.L., Guo, D., Church, A., et al. Multicenter Feasibility Study of Tumor Molecular Profiling to Inform Therapeutic Decisions in Advanced Pediatric Solid Tumors: The Individualized Cancer Therapy (iCat) Study. JAMA Oncol. 2016, doi: 10.1001/jamaoncol.2015.5689.
-
(2016)
JAMA Oncol
-
-
Harris, M.H.1
Dubois, S.G.2
Glade Bender, J.L.3
Kim, A.4
Crompton, B.D.5
Parker, E.6
Dumont, I.P.7
Hong, A.L.8
Guo, D.9
Church, A.10
-
215
-
-
84887491073
-
Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat
-
Frampton, G.M., Fichtenholtz, A., Otto, G.A., Wang, K., Downing, S.R., He, J., Schnall-Levin, M., White, J., Sanford, E.M., An, P., et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat. Biotechnol. 2013, 31, 1023-1031.
-
(2013)
Biotechnol
, vol.31
, pp. 1023-1031
-
-
Frampton, G.M.1
Fichtenholtz, A.2
Otto, G.A.3
Wang, K.4
Downing, S.R.5
He, J.6
Schnall-Levin, M.7
White, J.8
Sanford, E.M.9
An, P.10
-
216
-
-
84904383595
-
Next-generation sequencing analysis of lung and colon carcinomas reveals a variety of genetic alterations
-
Chevrier, S., Arnould, L., Ghiringhelli, F., Coudert, B., Fumoleau, P., Boidot, R. Next-generation sequencing analysis of lung and colon carcinomas reveals a variety of genetic alterations. Int. J. Oncol. 2014, 45, 1167-1174.
-
(2014)
Int. J. Oncol.
, vol.45
, pp. 1167-1174
-
-
Chevrier, S.1
Arnould, L.2
Ghiringhelli, F.3
Coudert, B.4
Fumoleau, P.5
Boidot, R.6
-
217
-
-
84925582188
-
Anchored multiplex PCR for targeted next-generation sequencing
-
Zheng, Z., Liebers, M., Zhelyazkova, B., Cao, Y., Panditi, D., Lynch, K.D., Chen, J., Robinson, H.E., Shim, H.S., Chmielecki, J., et al. Anchored multiplex PCR for targeted next-generation sequencing. Nat. Med. 2014, 20, 1479-1484.
-
(2014)
Nat. Med
, vol.20
, pp. 1479-1484
-
-
Zheng, Z.1
Liebers, M.2
Zhelyazkova, B.3
Cao, Y.4
Panditi, D.5
Lynch, K.D.6
Chen, J.7
Robinson, H.E.8
Shim, H.S.9
Chmielecki, J.10
-
218
-
-
84913584766
-
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations
-
Haraldsdottir, S., Hampel, H., Tomsic, J., Frankel, W.L., Pearlman, R., de la Chapelle, A., Pritchard, C.C. Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations. Gastroenterology 2014, 147, 1308e1-1316e1.
-
(2014)
Gastroenterology
, vol.147
-
-
Haraldsdottir, S.1
Hampel, H.2
Tomsic, J.3
Frankel, W.L.4
Pearlman, R.5
De La Chapelle, A.6
Pritchard, C.C.7
-
219
-
-
84946070926
-
The NEXT-1 (Next generation pErsonalized tX with mulTi-omics and preclinical model) trial: Prospective molecular screening trial of metastatic solid cancer patients, a feasibility analysis
-
Kim, S.T., Lee, J., Hong, M., Park, K., Park, J.O., Ahn, T., Park, S.H., Park, Y.S., Lim, H.Y., Sun, J.M., et al. The NEXT-1 (Next generation pErsonalized tX with mulTi-omics and preclinical model) trial: Prospective molecular screening trial of metastatic solid cancer patients, a feasibility analysis. Oncotarget 2015, 6, 33358-33368.
-
(2015)
Oncotarget
, vol.6
, pp. 33358-33368
-
-
Kim, S.T.1
Lee, J.2
Hong, M.3
Park, K.4
Park, J.O.5
Ahn, T.6
Park, S.H.7
Park, Y.S.8
Lim, H.Y.9
Sun, J.M.10
-
220
-
-
78650959663
-
Massive genomic rearrangement acquired in a single catastrophic event during cancer development
-
Stephens, P.J., Greenman, C.D., Fu, B., Yang, F., Bignell, G.R., Mudie, L.J., Pleasance, E.D., Lau, K.W., Beare, D., Stebbings, L.A., et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 2011, 144, 27-40.
-
(2011)
Cell
, vol.144
, pp. 27-40
-
-
Stephens, P.J.1
Greenman, C.D.2
Fu, B.3
Yang, F.4
Bignell, G.R.5
Mudie, L.J.6
Pleasance, E.D.7
Lau, K.W.8
Beare, D.9
Stebbings, L.A.10
-
221
-
-
84901936604
-
Enabling a genetically informed approach to cancer medicine: A retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel
-
Johnson, D.B., Dahlman, K.H., Knol, J., Gilbert, J., Puzanov, I., Means-Powell, J., Balko, J.M., Lovly, C.M., Murphy, B.A., Goff, L.W., et al. Enabling a genetically informed approach to cancer medicine: A retrospective evaluation of the impact of comprehensive tumor profiling using a targeted next-generation sequencing panel. Oncologist 2014, 19, 616-622.
-
(2014)
Oncologist
, vol.19
, pp. 616-622
-
-
Johnson, D.B.1
Dahlman, K.H.2
Knol, J.3
Gilbert, J.4
Puzanov, I.5
Means-Powell, J.6
Balko, J.M.7
Lovly, C.M.8
Murphy, B.A.9
Goff, L.W.10
-
222
-
-
84922481680
-
Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours
-
Singh, R.R., Patel, K.P., Routbort, M.J., Aldape, K., Lu, X., Manekia, J., Abraham, R., Reddy, N.G., Barkoh, B.A., Veliyathu, J., et al. Clinical massively parallel next-generation sequencing analysis of 409 cancer-related genes for mutations and copy number variations in solid tumours. Br. J. Cancer 2014, 111, 2014-2023.
-
(2014)
Br. J. Cancer
, vol.111
, pp. 2014-2023
-
-
Singh, R.R.1
Patel, K.P.2
Routbort, M.J.3
Aldape, K.4
Lu, X.5
Manekia, J.6
Abraham, R.7
Reddy, N.G.8
Barkoh, B.A.9
Veliyathu, J.10
-
223
-
-
84882289495
-
Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes
-
Singh, R.R., Patel, K.P., Routbort, M.J., Reddy, N.G., Barkoh, B.A., Handal, B., Kanagal-Shamanna, R., Greaves, W.O., Medeiros, L.J., Aldape, K.D., et al. Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes. J. Mol. Diagn. 2013, 15, 607-622.
-
(2013)
J. Mol. Diagn
, vol.15
, pp. 607-622
-
-
Singh, R.R.1
Patel, K.P.2
Routbort, M.J.3
Reddy, N.G.4
Barkoh, B.A.5
Handal, B.6
Kanagal-Shamanna, R.7
Greaves, W.O.8
Medeiros, L.J.9
Aldape, K.D.10
-
224
-
-
84887375179
-
Fusion genes in solid tumors: An emerging target for cancer diagnosis and treatment. Chin
-
Parker, B.C., Zhang, W. Fusion genes in solid tumors: An emerging target for cancer diagnosis and treatment. Chin. J. Cancer 2013, 32, 594-603.
-
(2013)
J. Cancer
, vol.32
, pp. 594-603
-
-
Parker, B.C.1
Zhang, W.2
-
225
-
-
85011649252
-
-
accessed on November 2016)
-
Cancer-Genome-Project. Available eonline: http://www.sanger.ac.uk/science/groups/cancer-genome-project (accessed on November 2016).
-
-
-
-
226
-
-
74449085934
-
A small-cell lung cancer genome with complex signatures of tobacco exposure
-
Pleasance, E.D., Stephens, P.J., O’Meara, S., McBride, D.J., Meynert, A., Jones, D., Lin, M.L., Beare, D., Lau, K.W., Greenman, C., et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 2010, 463, 184-190.
-
(2010)
Nature
, vol.463
, pp. 184-190
-
-
Pleasance, E.D.1
Stephens, P.J.2
O’Meara, S.3
McBride, D.J.4
Meynert, A.5
Jones, D.6
Lin, M.L.7
Beare, D.8
Lau, K.W.9
Greenman, C.10
-
227
-
-
77249123407
-
Signatures of mutation and selection in the cancer genome
-
Bignell, G.R., Greenman, C.D., Davies, H., Butler, A.P., Edkins, S., Andrews, J.M., Buck, G., Chen, L., Beare, D., Latimer, C., et al. Signatures of mutation and selection in the cancer genome. Nature 2010, 463, 893-898.
-
(2010)
Nature
, vol.463
, pp. 893-898
-
-
Bignell, G.R.1
Greenman, C.D.2
Davies, H.3
Butler, A.P.4
Edkins, S.5
Rews, J.M.6
Buck, G.7
Chen, L.8
Beare, D.9
Latimer, C.10
-
228
-
-
84882837534
-
Signatures of mutational processes in human cancer
-
Alexandrov, L.B., Nik-Zainal, S., Wedge, D.C., Aparicio, S.A., Behjati, S., Biankin, A.V., Bignell, G.R., Bolli, N., Borg, A., Borresen-Dale, A.L., et al. Signatures of mutational processes in human cancer. Nature 2013, 500, 415-421.
-
(2013)
Nature
, vol.500
, pp. 415-421
-
-
Alexandrov, L.B.1
Nik-Zainal, S.2
Wedge, D.C.3
Aparicio, S.A.4
Behjati, S.5
Biankin, A.V.6
Bignell, G.R.7
Bolli, N.8
Borg, A.9
Borresen-Dale, A.L.10
-
229
-
-
75549087826
-
COSMIC (The Catalogue of Somatic Mutations in Cancer): A resource to investigate acquired mutations in human cancer
-
Forbes, S.A., Tang, G., Bindal, N., Bamford, S., Dawson, E., Cole, C., Kok, C.Y., Jia, M., Ewing, R., Menzies, A., et al. COSMIC (the Catalogue of Somatic Mutations in Cancer): A resource to investigate acquired mutations in human cancer. Nucleic Acids Res. 2010, 38, D652-D657.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. D652-D657
-
-
Forbes, S.A.1
Tang, G.2
Bindal, N.3
Bamford, S.4
Dawson, E.5
Cole, C.6
Kok, C.Y.7
Jia, M.8
Ewing, R.9
Menzies, A.10
-
230
-
-
84859187259
-
Systematic identification of genomic markers of drug sensitivity in cancer cells
-
Garnett, M.J., Edelman, E.J., Heidorn, S.J., Greenman, C.D., Dastur, A., Lau, K.W., Greninger, P., Thompson, I.R., Luo, X., Soares, J., et al. Systematic identification of genomic markers of drug sensitivity in cancer cells. Nature 2012, 483, 570-575.
-
(2012)
Nature
, vol.483
, pp. 570-575
-
-
Garnett, M.J.1
Edelman, E.J.2
Heidorn, S.J.3
Greenman, C.D.4
Dastur, A.5
Lau, K.W.6
Greninger, P.7
Thompson, I.R.8
Luo, X.9
Soares, J.10
-
231
-
-
85011692185
-
-
accessed on November 2016)
-
The-Cancer-Genome-Atlas. Available online: https://cancergenome.nih.gov/ (accessed on November 2016).
-
-
-
-
232
-
-
84911808136
-
The cancer genome atlas research network: A sight to behold
-
Giordano, T.J. The cancer genome atlas research network: A sight to behold. Endocr. Pathol. 2014, 25, 362-365.
-
(2014)
Endocr. Pathol
, vol.25
, pp. 362-365
-
-
Giordano, T.J.1
-
233
-
-
84927177712
-
The AURORA initiative for metastatic breast cancer
-
Zardavas, D., Maetens, M., Irrthum, A., Goulioti, T., Engelen, K., Fumagalli, D., Salgado, R., Aftimos, P., Saini, K.S., Sotiriou, C., et al. The AURORA initiative for metastatic breast cancer. Br. J. Cancer 2014, 111, 1881-1887.
-
(2014)
Br. J. Cancer
, vol.111
, pp. 1881-1887
-
-
Zardavas, D.1
Maetens, M.2
Irrthum, A.3
Goulioti, T.4
Engelen, K.5
Fumagalli, D.6
Salgado, R.7
Aftimos, P.8
Saini, K.S.9
Sotiriou, C.10
-
234
-
-
77951115122
-
International network of cancer genome projects
-
International Cancer Genome Consortium
-
International Cancer Genome Consortium, Hudson, T.J., Anderson, W., Artez, A., Barker, A.D., Bell, C., Bernabe, R.R., Bhan, M.K., Calvo, F., Eerola, I., et al. International network of cancer genome projects. Nature 2010, 464, 993-998.
-
(2010)
Nature
, vol.464
, pp. 993-998
-
-
Hudson, T.J.1
Erson, W.2
Artez, A.3
Barker, A.D.4
Bell, C.5
Bernabe, R.R.6
Bhan, M.K.7
Calvo, F.8
Eerola, I.9
-
235
-
-
51349126920
-
Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing
-
Campbell, P.J., Pleasance, E.D., Stephens, P.J., Dicks, E., Rance, R., Goodhead, I., Follows, G.A., Green, A.R., Futreal, P.A., Stratton, M.R. Subclonal phylogenetic structures in cancer revealed by ultra-deep sequencing. Proc. Natl. Acad. Sci. USA 2008, 105, 13081-13086.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 13081-13086
-
-
Campbell, P.J.1
Pleasance, E.D.2
Stephens, P.J.3
Dicks, E.4
Rance, R.5
Goodhead, I.6
Follows, G.A.7
Green, A.R.8
Futreal, P.A.9
Stratton, M.R.10
-
236
-
-
84960171648
-
A targeted next-generation sequencing method for identifying clinically relevant mutation profiles in lung adenocarcinoma
-
Shao, D., Lin, Y., Liu, J., Wan, L., Liu, Z., Cheng, S., Fei, L., Deng, R., Wang, J., Chen, X., et al. A targeted next-generation sequencing method for identifying clinically relevant mutation profiles in lung adenocarcinoma. Sci. Rep. 2016, 6, 22338, doi:10.1038/srep22338.
-
Sci. Rep
, vol.6
, Issue.2
, pp. 2016
-
-
Shao, D.1
Lin, Y.2
Liu, J.3
Wan, L.4
Liu, Z.5
Cheng, S.6
Fei, L.7
Deng, R.8
Wang, J.9
Chen, X.10
-
237
-
-
84899028356
-
Routine use of the Ion Torrent AmpliSeq Cancer Hotspot Panel for identification of clinically actionable somatic mutations
-
Tsongalis, G.J., Peterson, J.D., de Abreu, F.B., Tunkey, C.D., Gallagher, T.L., Strausbaugh, L.D., Wells, W.A., Amos, C.I. Routine use of the Ion Torrent AmpliSeq Cancer Hotspot Panel for identification of clinically actionable somatic mutations. Clin. Chem. Lab. Med. 2014, 52, 707-714.
-
(2014)
Clin. Chem. Lab. Med
, vol.52
, pp. 707-714
-
-
Tsongalis, G.J.1
Peterson, J.D.2
De Abreu, F.B.3
Tunkey, C.D.4
Gallagher, T.L.5
Strausbaugh, L.D.6
Wells, W.A.7
Amos, C.I.8
-
238
-
-
84898938357
-
High-throughput detection of clinically relevant mutations in archived tumor samples by multiplexed PCR and next-generation sequencing
-
Bourgon, R., Lu, S., Yan, Y., Lackner, M.R., Wang, W., Weigman, V., Wang, D., Guan, Y., Ryner, L., Koeppen, H., et al. High-throughput detection of clinically relevant mutations in archived tumor samples by multiplexed PCR and next-generation sequencing. Clin. Cancer Res. 2014, 20, 2080-2091.
-
(2014)
Clin. Cancer Res
, vol.20
, pp. 2080-2091
-
-
Bourgon, R.1
Lu, S.2
Yan, Y.3
Lackner, M.R.4
Wang, W.5
Weigman, V.6
Wang, D.7
Guan, Y.8
Ryner, L.9
Koeppen, H.10
-
239
-
-
84899492822
-
Quantitative assessment of mutant allele burden in solid tumors by semiconductor-based next-generation sequencing
-
Portier, B.P., Kanagal-Shamanna, R., Luthra, R., Singh, R., Routbort, M.J., Handal, B., Reddy, N., Barkoh, B.A., Zuo, Z., Medeiros, L.J., et al. Quantitative assessment of mutant allele burden in solid tumors by semiconductor-based next-generation sequencing. Am. J. Clin. Pathol. 2014, 141, 559-572.
-
(2014)
Am. J. Clin. Pathol
, vol.141
, pp. 559-572
-
-
Portier, B.P.1
Kanagal-Shamanna, R.2
Luthra, R.3
Singh, R.4
Routbort, M.J.5
Handal, B.6
Reddy, N.7
Barkoh, B.A.8
Zuo, Z.9
Medeiros, L.J.10
-
240
-
-
84934342521
-
EQA Initiative. RAS testing in metastatic colorectal cancer: Excellent reproducibility amongst 17 Dutch pathology centers
-
Boleij, A., Tops, B.B., Rombout, P.D., Dequeker, E.M., Ligtenberg, M.J., van Krieken, J.H., Dutch RAS EQA Initiative. RAS testing in metastatic colorectal cancer: Excellent reproducibility amongst 17 Dutch pathology centers. Oncotarget 2015, 6, 15681-15689.
-
(2015)
Oncotarget
, vol.6
, pp. 15681-15689
-
-
Boleij, A.1
Tops, B.B.2
Rombout, P.D.3
Dequeker, E.M.4
Ligtenberg, M.J.5
Van Krieken, J.H.6
Dutch, R.7
-
241
-
-
84976336463
-
Inter-Laboratory Evaluation of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia
-
Haslam, K., Catherwood, M.A., Dobbin, E., Sproul, A., Langabeer, S.E., Mills, K.I. Inter-Laboratory Evaluation of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia. Mol. Diagn. Ther. 2016, 20, 457-461.
-
(2016)
Mol. Diagn. Ther
, vol.20
, pp. 457-461
-
-
Haslam, K.1
Catherwood, M.A.2
Dobbin, E.3
Sproul, A.4
Langabeer, S.E.5
Mills, K.I.6
-
242
-
-
84928215463
-
Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients
-
Wong, S.Q., Fellowes, A., Doig, K., Ellul, J., Bosma, T.J., Irwin, D., Vedururu, R., Tan, A.Y., Weiss, J., Chan, K.S., et al. Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients. Br. J. Cancer 2015, 112, 1411-1420.
-
(2015)
Br. J. Cancer
, vol.112
, pp. 1411-1420
-
-
Wong, S.Q.1
Fellowes, A.2
Doig, K.3
Ellul, J.4
Bosma, T.J.5
Irwin, D.6
Vedururu, R.7
Tan, A.Y.8
Weiss, J.9
Chan, K.S.10
-
243
-
-
84934945778
-
Evaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNA
-
Kotoula, V., Lyberopoulou, A., Papadopoulou, K., Charalambous, E., Alexopoulou, Z., Gakou, C., Lakis, S., Tsolaki, E., Lilakos, K., Fountzilas, G. Evaluation of two highly-multiplexed custom panels for massively parallel semiconductor sequencing on paraffin DNA. PLoS ONE 2015, 10, e0128818.
-
(2015)
Plos ONE
, vol.10
-
-
Kotoula, V.1
Lyberopoulou, A.2
Papadopoulou, K.3
Charalambous, E.4
Alexopoulou, Z.5
Gakou, C.6
Lakis, S.7
Tsolaki, E.8
Lilakos, K.9
Fountzilas, G.10
-
244
-
-
84904502195
-
Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing
-
Lin, M.T., Mosier, S.L., Thiess, M., Beierl, K.F., Debeljak, M., Tseng, L.H., Chen, G., Yegnasubramanian, S., Ho, H., Cope, L., et al. Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. Am. J. Clin. Pathol. 2014, 141, 856-866.
-
(2014)
Am. J. Clin. Pathol
, vol.141
, pp. 856-866
-
-
Lin, M.T.1
Mosier, S.L.2
Thiess, M.3
Beierl, K.F.4
Debeljak, M.5
Tseng, L.H.6
Chen, G.7
Yegnasubramanian, S.8
Ho, H.9
Cope, L.10
-
245
-
-
84960447255
-
Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material
-
De Leng, W.W., Gadellaa-van Hooijdonk, C.G., Barendregt-Smouter, F.A., Koudijs, M.J., Nijman, I., Hinrichs, J.W., Cuppen, E., van Lieshout, S., Loberg, R.D., de Jonge, M., et al. Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material. PLoS ONE 2016, 11, e0149405.
-
(2016)
Plos ONE
, vol.11
-
-
De Leng, W.W.1
Gadellaa-Van Hooijdonk, C.G.2
Barendregt-Smouter, F.A.3
Koudijs, M.J.4
Nijman, I.5
Hinrichs, J.W.6
Cuppen, E.7
Van Lieshout, S.8
Loberg, R.D.9
De Jonge, M.10
-
246
-
-
84940882447
-
Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms
-
Burghel, G.J., Hurst, C.D., Watson, C.M., Chambers, P.A., Dickinson, H., Roberts, P., Knowles, M.A. Towards a Next-Generation Sequencing Diagnostic Service for Tumour Genotyping: A Comparison of Panels and Platforms. Biomed. Res. Int. 2015, 2015, 478017, doi:10.1155/2015/478017.
-
(2015)
Biomed. Res. Int
, vol.2015
-
-
Burghel, G.J.1
Hurst, C.D.2
Watson, C.M.3
Chambers, P.A.4
Dickinson, H.5
Roberts, P.6
Knowles, M.A.7
-
247
-
-
74949138753
-
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
-
Drmanac, R., Sparks, A.B., Callow, M.J., Halpern, A.L., Burns, N.L., Kermani, B.G., Carnevali, P., Nazarenko, I., Nilsen, G.B., Yeung, G., et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 2010, 327, 78-81.
-
(2010)
Science
, vol.327
, pp. 78-81
-
-
Drmanac, R.1
Sparks, A.B.2
Callow, M.J.3
Halpern, A.L.4
Burns, N.L.5
Kermani, B.G.6
Carnevali, P.7
Nazarenko, I.8
Nilsen, G.B.9
Yeung, G.10
-
248
-
-
84945466512
-
Identification of major factors associated with failed clinical molecular oncology testing performed by next generation sequencing (NGS)
-
Al-Kateb, H., Nguyen, T.T., Steger-May, K., Pfeifer, J.D. Identification of major factors associated with failed clinical molecular oncology testing performed by next generation sequencing (NGS). Mol. Oncol. 2015, 9, 1737-1743.
-
(2015)
Mol. Oncol
, vol.9
, pp. 1737-1743
-
-
Al-Kateb, H.1
Nguyen, T.T.2
Steger-May, K.3
Pfeifer, J.D.4
-
249
-
-
84916920201
-
Characterization of endoscopic ultrasound fine-needle aspiration cytology by targeted next-generation sequencing and theranostic potential
-
Gleeson, F.C., Kipp, B.R., Kerr, S.E., Voss, J.S., Lazaridis, K.N., Katzka, D.A., Levy, M.J. Characterization of endoscopic ultrasound fine-needle aspiration cytology by targeted next-generation sequencing and theranostic potential. Clin. Gastroenterol. Hepatol. 2015, 13, 37-41.
-
(2015)
Clin. Gastroenterol. Hepatol.
, vol.13
, pp. 37-41
-
-
Gleeson, F.C.1
Kipp, B.R.2
Kerr, S.E.3
Voss, J.S.4
Lazaridis, K.N.5
Katzka, D.A.6
Levy, M.J.7
-
250
-
-
84937990975
-
On the Road to Precision Cancer Medicine: Analysis of Genomic Biomarker Actionability in 439 Patients
-
Schwaederle, M., Daniels, G.A., Piccioni, D.E., Fanta, P.T., Schwab, R.B., Shimabukuro, K.A., Parker, B.A., Kurzrock, R. On the Road to Precision Cancer Medicine: Analysis of Genomic Biomarker Actionability in 439 Patients. Mol. Cancer Ther. 2015, 14, 1488-1494.
-
(2015)
Mol. Cancer Ther
, vol.14
, pp. 1488-1494
-
-
Schwaederle, M.1
Daniels, G.A.2
Piccioni, D.E.3
Fanta, P.T.4
Schwab, R.B.5
Shimabukuro, K.A.6
Parker, B.A.7
Kurzrock, R.8
-
251
-
-
84873093569
-
Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial
-
Tran, B., Brown, A.M., Bedard, P.L., Winquist, E., Goss, G.D., Hotte, S.J., Welch, S.A., Hirte, H.W., Zhang, T., Stein, L.D., et al. Feasibility of real time next generation sequencing of cancer genes linked to drug response: Results from a clinical trial. Int. J. Cancer 2013, 132, 1547-1555.
-
(2013)
Int. J. Cancer
, vol.132
, pp. 1547-1555
-
-
Tran, B.1
Brown, A.M.2
Bedard, P.L.3
Winquist, E.4
Goss, G.D.5
Hotte, S.J.6
Welch, S.A.7
Hirte, H.W.8
Zhang, T.9
Stein, L.D.10
-
252
-
-
84940172694
-
Clinical next generation sequencing to identify actionable aberrations in a phase I program
-
Boland, G.M., Piha-Paul, S.A., Subbiah, V., Routbort, M., Herbrich, S.M., Baggerly, K., Patel, K.P., Brusco, L., Horombe, C., Naing, A., et al. Clinical next generation sequencing to identify actionable aberrations in a phase I program. Oncotarget 2015, 6, 20099-20110.
-
(2015)
Oncotarget
, vol.6
, pp. 20099-20110
-
-
Boland, G.M.1
Piha-Paul, S.A.2
Subbiah, V.3
Routbort, M.4
Herbrich, S.M.5
Baggerly, K.6
Patel, K.P.7
Brusco, L.8
Horombe, C.9
Naing, A.10
-
253
-
-
84943656703
-
Development of a Center for Personalized Cancer Care at a Regional Cancer Center: Feasibility Trial of an Institutional Tumor Sequencing Advisory Board
-
Lane, B.R., Bissonnette, J., Waldherr, T., Ritz-Holland, D., Chesla, D., Cottingham, S.L., Alberta, S., Liu, C., Thompson, A.B., Graveel, C., et al. Development of a Center for Personalized Cancer Care at a Regional Cancer Center: Feasibility Trial of an Institutional Tumor Sequencing Advisory Board. J. Mol. Diagn. 2015, 17, 695-704.
-
(2015)
J. Mol. Diagn
, vol.17
, pp. 695-704
-
-
Lane, B.R.1
Bissonnette, J.2
Waldherr, T.3
Ritz-Holland, D.4
Chesla, D.5
Cottingham, S.L.6
Alberta, S.7
Liu, C.8
Thompson, A.B.9
Graveel, C.10
-
254
-
-
85007605354
-
Development and clinical application of an integrative genomic approach to personalized cancer therapy
-
Uzilov, A.V., Ding, W., Fink, M.Y., Antipin, Y., Brohl, A.S., Davis, C., Lau, C.Y., Pandya, C., Shah, H., Kasai, Y., et al. Development and clinical application of an integrative genomic approach to personalized cancer therapy. Genome Med. 2016, 8, 62, doi:10.1186/s13073-016-0313-0.
-
(2016)
Genome Med
, vol.8
, pp. 62
-
-
Uzilov, A.V.1
Ding, W.2
Fink, M.Y.3
Antipin, Y.4
Brohl, A.S.5
Davis, C.6
Lau, C.Y.7
Pandya, C.8
Shah, H.9
Kasai, Y.10
-
255
-
-
84954055993
-
Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial
-
Lih, C.J., Sims, D.J., Harrington, R.D., Polley, E.C., Zhao, Y., Mehaffey, M.G., Forbes, T.D., Das, B., Walsh, W.D., Datta, V., et al. Analytical Validation and Application of a Targeted Next-Generation Sequencing Mutation-Detection Assay for Use in Treatment Assignment in the NCI-MPACT Trial. J. Mol. Diagn. 2016, 18, 51-67.
-
(2016)
J. Mol. Diagn
, vol.18
, pp. 51-67
-
-
Lih, C.J.1
Sims, D.J.2
Harrington, R.D.3
Polley, E.C.4
Zhao, Y.5
Mehaffey, M.G.6
Forbes, T.D.7
Das, B.8
Walsh, W.D.9
Datta, V.10
-
256
-
-
84920724251
-
Development and validation of the JAX Cancer Treatment Profile for detection of clinically actionable mutations in solid tumors
-
Ananda, G., Mockus, S., Lundquist, M., Spotlow, V., Simons, A., Mitchell, T., Stafford, G., Philip, V., Stearns, T., Srivastava, A., et al. Development and validation of the JAX Cancer Treatment Profile for detection of clinically actionable mutations in solid tumors. Exp. Mol. Pathol. 2015, 98, 106-112.
-
(2015)
Exp. Mol. Pathol
, vol.98
, pp. 106-112
-
-
Ananda, G.1
Mockus, S.2
Lundquist, M.3
Spotlow, V.4
Simons, A.5
Mitchell, T.6
Stafford, G.7
Philip, V.8
Stearns, T.9
Srivastava, A.10
-
257
-
-
84890409823
-
Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens
-
Pritchard, C.C., Salipante, S.J., Koehler, K., Smith, C., Scroggins, S., Wood, B., Wu, D., Lee, M.K., Dintzis, S., Adey, A., et al. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J. Mol. Diagn. 2014, 16, 56-67.
-
(2014)
J. Mol. Diagn
, vol.16
, pp. 56-67
-
-
Pritchard, C.C.1
Salipante, S.J.2
Koehler, K.3
Smith, C.4
Scroggins, S.5
Wood, B.6
Wu, D.7
Lee, M.K.8
Dintzis, S.9
Adey, A.10
-
258
-
-
84890421610
-
Validation of a next-generation sequencing assay for clinical molecular oncology
-
Cottrell, C.E., Al-Kateb, H., Bredemeyer, A.J., Duncavage, E.J., Spencer, D.H., Abel, H.J., Lockwood, C.M., Hagemann, I.S., O’Guin, S.M., Burcea, L.C., et al. Validation of a next-generation sequencing assay for clinical molecular oncology. J. Mol. Diagn. 2014, 16, 89-105.
-
(2014)
J. Mol. Diagn
, vol.16
, pp. 89-105
-
-
Cottrell, C.E.1
Al-Kateb, H.2
Bredemeyer, A.J.3
Duncavage, E.J.4
Spencer, D.H.5
Abel, H.J.6
Lockwood, C.M.7
Hagemann, I.S.8
O’Guin, S.M.9
Burcea, L.C.10
-
259
-
-
84992096877
-
Somatic DNA mutation analysis in targeted therapy of solid tumours
-
Yu, B., O’Toole, S.A., Trent, R.J. Somatic DNA mutation analysis in targeted therapy of solid tumours. Transl. Pediatr. 2015, 4, 125-138.
-
(2015)
Transl. Pediatr
, vol.4
, pp. 125-138
-
-
Yu, B.1
O’Toole, S.A.2
Trent, R.J.3
-
260
-
-
84965187238
-
Clinical tumor sequencing: Opportunities and challenges for precision cancer medicine
-
Book 2015
-
Damodaran, S., Berger, M.F., Roychowdhury, S. Clinical tumor sequencing: Opportunities and challenges for precision cancer medicine. Am. Soc. Clin. Oncol. Educ. Book 2015, e175-e182, doi:10.14694/EdBook_AM.2015.35.
-
Am. Soc. Clin. Oncol. Educ
-
-
Damodaran, S.1
Berger, M.F.2
Roychowdhury, S.3
-
261
-
-
84940654294
-
Implementation of a Molecular Tumor Board: The Impact on Treatment Decisions for 35 Patients Evaluated at Dartmouth-Hitchcock Medical Center
-
Tafe, L.J., Gorlov, I.P., de Abreu, F.B., Lefferts, J.A., Liu, X., Pettus, J.R., Marotti, J.D., Bloch, K.J., Memoli, V.A., Suriawinata, A.A., et al. Implementation of a Molecular Tumor Board: The Impact on Treatment Decisions for 35 Patients Evaluated at Dartmouth-Hitchcock Medical Center. Oncologist 2015, 20, 1011-1018.
-
(2015)
Oncologist
, vol.20
, pp. 1011-1018
-
-
Tafe, L.J.1
Gorlov, I.P.2
De Abreu, F.B.3
Lefferts, J.A.4
Liu, X.5
Pettus, J.R.6
Marotti, J.D.7
Bloch, K.J.8
Memoli, V.A.9
Suriawinata, A.A.10
-
262
-
-
84881071581
-
Circulating tumor cells versus tumor-derived cell-free DNA: Rivals or partners in cancer care in the era of single-cell analysis?
-
Kidess, E., Jeffrey, S.S. Circulating tumor cells versus tumor-derived cell-free DNA: Rivals or partners in cancer care in the era of single-cell analysis? Genome Med. 2013, 5, 70.
-
(2013)
Genome Med
, vol.5
, pp. 70
-
-
Kidess, E.1
Jeffrey, S.S.2
-
263
-
-
84943383544
-
Accessing Genetic Information with Liquid Biopsies
-
Cai, X., Janku, F., Zhan, Q., Fan, J.B. Accessing Genetic Information with Liquid Biopsies. Trends Genet. 2015, 31, 564-575.
-
(2015)
Trends Genet
, vol.31
, pp. 564-575
-
-
Cai, X.1
Janku, F.2
Zhan, Q.3
Fan, J.B.4
-
264
-
-
84959176157
-
Clinical and biological significance of circulating tumor cells in cancer
-
Masuda, T., Hayashi, N., Iguchi, T., Ito, S., Eguchi, H., Mimori, K. Clinical and biological significance of circulating tumor cells in cancer. Mol. Oncol. 2016, 10, 408-417.
-
(2016)
Mol. Oncol
, vol.10
, pp. 408-417
-
-
Masuda, T.1
Hayashi, N.2
Iguchi, T.3
Ito, S.4
Eguchi, H.5
Mimori, K.6
-
265
-
-
84934942475
-
Molecular profiling of circulating tumor cells links plasticity to the metastatic process in endometrial cancer
-
Alonso-Alconada, L., Muinelo-Romay, L., Madissoo, K., Diaz-Lopez, A., Krakstad, C., Trovik, J., Wik, E., Hapangama, D., Coenegrachts, L., Cano, A., et al. Molecular profiling of circulating tumor cells links plasticity to the metastatic process in endometrial cancer. Mol. Cancer 2014, 13, 223, doi:10.1186/1476-4598-13-223.
-
(2014)
Mol. Cancer
, vol.13
, pp. 223
-
-
Alonso-Alconada, L.1
Muinelo-Romay, L.2
Madissoo, K.3
Diaz-Lopez, A.4
Krakstad, C.5
Trovik, J.6
Wik, E.7
Hapangama, D.8
Coenegrachts, L.9
Cano, A.10
-
266
-
-
84877865227
-
Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing
-
Heitzer, E., Auer, M., Gasch, C., Pichler, M., Ulz, P., Hoffmann, E.M., Lax, S., Waldispuehl-Geigl, J., Mauermann, O., Lackner, C., et al. Complex tumor genomes inferred from single circulating tumor cells by array-CGH and next-generation sequencing. Cancer Res. 2013, 73, 2965-2975.
-
(2013)
Cancer Res
, vol.73
, pp. 2965-2975
-
-
Heitzer, E.1
Auer, M.2
Gasch, C.3
Pichler, M.4
Ulz, P.5
Hoffmann, E.M.6
Lax, S.7
Waldispuehl-Geigl, J.8
Mauermann, O.9
Lackner, C.10
-
267
-
-
84861746437
-
Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA
-
Forshew, T., Murtaza, M., Parkinson, C., Gale, D., Tsui, D.W., Kaper, F., Dawson, S.J., Piskorz, A.M., Jimenez-Linan, M., Bentley, D., et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA. Sci. Transl. Med. 2012, 4, 136ra68, doi:10.1126/scitranslmed.3003726.
-
(2012)
Sci. Transl. Med
, vol.4
-
-
Forshew, T.1
Murtaza, M.2
Parkinson, C.3
Gale, D.4
Tsui, D.W.5
Kaper, F.6
Dawson, S.J.7
Piskorz, A.M.8
Jimenez-Linan, M.9
Bentley, D.10
-
268
-
-
84936132730
-
Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: A proof-of-concept study from BioCAST/IFCT-1002
-
Couraud, S., Vaca-Paniagua, F., Villar, S., Oliver, J., Schuster, T., Blanche, H., Girard, N., Tredaniel, J., Guilleminault, L., Gervais, R., et al. Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: A proof-of-concept study from BioCAST/IFCT-1002. Clin. Cancer Res. 2014, 20, 4613-4624.
-
(2014)
Clin. Cancer Res
, vol.20
, pp. 4613-4624
-
-
Couraud, S.1
Vaca-Paniagua, F.2
Villar, S.3
Oliver, J.4
Schuster, T.5
Blanche, H.6
Girard, N.7
Tredaniel, J.8
Guilleminault, L.9
Gervais, R.10
-
269
-
-
84921758615
-
Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer
-
Rothe, F., Laes, J.F., Lambrechts, D., Smeets, D., Vincent, D., Maetens, M., Fumagalli, D., Michiels, S., Drisis, S., Moerman, C., et al. Plasma circulating tumor DNA as an alternative to metastatic biopsies for mutational analysis in breast cancer. Ann. Oncol. 2014, 25, 1959-1965.
-
(2014)
Ann. Oncol
, vol.25
, pp. 1959-1965
-
-
Rothe, F.1
Laes, J.F.2
Lambrechts, D.3
Smeets, D.4
Vincent, D.5
Maetens, M.6
Fumagalli, D.7
Michiels, S.8
Drisis, S.9
Moerman, C.10
-
270
-
-
84926416450
-
Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types
-
Lebofsky, R., Decraene, C., Bernard, V., Kamal, M., Blin, A., Leroy, Q., Rio Frio, T., Pierron, G., Callens, C., Bieche, I., et al. Circulating tumor DNA as a non-invasive substitute to metastasis biopsy for tumor genotyping and personalized medicine in a prospective trial across all tumor types. Mol. Oncol. 2015, 9, 783-790.
-
(2015)
Mol. Oncol
, vol.9
, pp. 783-790
-
-
Lebofsky, R.1
Decraene, C.2
Bernard, V.3
Kamal, M.4
Blin, A.5
Leroy, Q.6
Rio Frio, T.7
Pierron, G.8
Callens, C.9
Bieche, I.10
-
271
-
-
84960540391
-
Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer
-
Ward, D.G., Baxter, L., Gordon, N.S., Ott, S., Savage, R.S., Beggs, A.D., James, J.D., Lickiss, J., Green, S., Wallis, Y., et al. Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer. PLoS ONE 2016, 11, e0149756.
-
(2016)
Plos ONE
, pp. 11
-
-
Ward, D.G.1
Baxter, L.2
Gordon, N.S.3
Ott, S.4
Savage, R.S.5
Beggs, A.D.6
James, J.D.7
Lickiss, J.8
Green, S.9
Wallis, Y.10
-
272
-
-
84961636991
-
Detection rate of actionable mutations in diverse cancers using a biopsy-free (Blood) circulating tumor cell DNA assay
-
Schwaederle, M., Husain, H., Fanta, P.T., Piccioni, D.E., Kesari, S., Schwab, R.B., Banks, K.C., Lanman, R.B., Talasaz, A., Parker, B.A., et al. Detection rate of actionable mutations in diverse cancers using a biopsy-free (blood) circulating tumor cell DNA assay. Oncotarget 2016, 7, 9707-9717.
-
(2016)
Oncotarget
, vol.7
, pp. 9707-9717
-
-
Schwaederle, M.1
Husain, H.2
Fanta, P.T.3
Piccioni, D.E.4
Kesari, S.5
Schwab, R.B.6
Banks, K.C.7
Lanman, R.B.8
Talasaz, A.9
Parker, B.A.10
-
273
-
-
84995670109
-
Use of Liquid Biopsies in Clinical Oncology: Pilot Experience in 168 Patients
-
Schwaederle, M., Husain, H., Fanta, P.T., Piccioni, D.E., Kesari, S., Schwab, R.B., Patel, S.P., Harismendy, O., Ikeda, M., Parker, B.A., et al. Use of Liquid Biopsies in Clinical Oncology: Pilot Experience in 168 Patients. Clin. Cancer Res. 2016, doi:10.1158/1078-0432.CCR-16-0318.
-
(2016)
Clin. Cancer Res
-
-
Schwaederle, M.1
Husain, H.2
Fanta, P.T.3
Piccioni, D.E.4
Kesari, S.5
Schwab, R.B.6
Patel, S.P.7
Harismendy, O.8
Ikeda, M.9
Parker, B.A.10
-
274
-
-
84923014763
-
Assessment of EGFR mutations in circulating tumor cell preparations from NSCLC patients by next generation sequencing: Toward a real-time liquid biopsy for treatment
-
Marchetti, A., Del Grammastro, M., Felicioni, L., Malatesta, S., Filice, G., Centi, I., de Pas, T., Santoro, A., Chella, A., Brandes, A.A., et al. Assessment of EGFR mutations in circulating tumor cell preparations from NSCLC patients by next generation sequencing: Toward a real-time liquid biopsy for treatment. PLoS ONE 2014, 9, e103883.
-
(2014)
Plos ONE
, vol.9
-
-
Marchetti, A.1
Del Grammastro, M.2
Felicioni, L.3
Malatesta, S.4
Filice, G.5
Centi, I.6
De Pas, T.7
Santoro, A.8
Chella, A.9
Brandes, A.A.10
-
275
-
-
84970021896
-
Circulating cell-free nucleic acids and platelets as a liquid biopsy in the provision of personalized therapy for lung cancer patients
-
Sorber, L., Zwaenepoel, K., Deschoolmeester, V., Van Schil, P.E., Van Meerbeeck, J., Lardon, F., Rolfo, C., Pauwels, P. Circulating cell-free nucleic acids and platelets as a liquid biopsy in the provision of personalized therapy for lung cancer patients. Lung Cancer 2016, doi:10.1016/j.lungcan.2016.04.026.
-
(2016)
Lung Cancer
-
-
Sorber, L.1
Zwaenepoel, K.2
Deschoolmeester, V.3
Van Schil, P.E.4
Van Meerbeeck, J.5
Lardon, F.6
Rolfo, C.7
Pauwels, P.8
-
276
-
-
84978719124
-
Liquid biopsy monitoring uncovers acquired RAS-mediated resistance to cetuximab in a substantial proportion of patients with head and neck squamous cell carcinoma
-
42988-42955
-
Braig, F., Voigtlaender, M., Schieferdecker, A., Busch, C.J., Laban, S., Grob, T., Kriegs, M., Knecht, R., Bokemeyer, C., Binder, M. Liquid biopsy monitoring uncovers acquired RAS-mediated resistance to cetuximab in a substantial proportion of patients with head and neck squamous cell carcinoma. Oncotarget 2016, 7, 42988-42955.
-
(2016)
Oncotarget
, vol.7
-
-
Braig, F.1
Voigtlaender, M.2
Schieferdecker, A.3
Busch, C.J.4
Laban, S.5
Grob, T.6
Kriegs, M.7
Knecht, R.8
Bokemeyer, C.9
Binder, M.10
-
277
-
-
84931855006
-
Noninvasive detection of activating estrogen receptor 1 (ESR1) mutations in estrogen receptor-positive metastatic breast cancer
-
Guttery, D.S., Page, K., Hills, A., Woodley, L., Marchese, S.D., Rghebi, B., Hastings, R.K., Luo, J., Pringle, J.H., Stebbing, J., et al. Noninvasive detection of activating estrogen receptor 1 (ESR1) mutations in estrogen receptor-positive metastatic breast cancer. Clin. Chem. 2015, 61, 974-982.
-
(2015)
Clin. Chem
, vol.61
, pp. 974-982
-
-
Guttery, D.S.1
Page, K.2
Hills, A.3
Woodley, L.4
Marchese, S.D.5
Rghebi, B.6
Hastings, R.K.7
Luo, J.8
Pringle, J.H.9
Stebbing, J.10
-
278
-
-
84960458286
-
Liquid Biopsy and its Potential for Management of Hepatocellular Carcinoma
-
Zhou, J., Huang, A., Yang, X.R. Liquid Biopsy and its Potential for Management of Hepatocellular Carcinoma. J. Gastrointest. Cancer 2016, 47, 157-167.
-
(2016)
J. Gastrointest. Cancer
, vol.47
, pp. 157-167
-
-
Zhou, J.1
Huang, A.2
Yang, X.R.3
-
279
-
-
84949523228
-
Circulating tumor DNA identified by targeted sequencing in advanced-stage non-small cell lung cancer patients
-
Xu, S., Lou, F., Wu, Y., Sun, D.Q., Zhang, J.B., Chen, W., Ye, H., Liu, J.H., Wei, S., Zhao, M.Y., et al. Circulating tumor DNA identified by targeted sequencing in advanced-stage non-small cell lung cancer patients. Cancer Lett. 2016, 370, 324-331.
-
(2016)
Cancer Lett
, vol.370
, pp. 324-331
-
-
Xu, S.1
Lou, F.2
Wu, Y.3
Sun, D.Q.4
Zhang, J.B.5
Chen, W.6
Ye, H.7
Liu, J.H.8
Wei, S.9
Zhao, M.Y.10
-
280
-
-
84941762500
-
As non-invasive diagnostic biomarker for childhood solid tumors
-
Kurihara, S., Ueda, Y., Onitake, Y., Sueda, T., Ohta, E., Morihara, N., Hirano, S., Irisuna, F., Hiyama, E. Circulating free DNA as non-invasive diagnostic biomarker for childhood solid tumors. J. Pediatr. Surg. 2015, 50, 2094-2097.
-
(2015)
J. Pediatr. Surg
, vol.50
, pp. 2094-2097
-
-
Kurihara, S.1
Ueda, Y.2
Onitake, Y.3
Sueda, T.4
Ohta, E.5
Morihara, N.6
Hirano, S.7
Irisuna, F.8
Hiyama, E.9
Circulating Free, D.10
-
281
-
-
84991786942
-
Somatic mutations in plasma cell-free DNA are diagnostic markers for esophageal squamous cell carcinoma recurrence
-
Ueda, M., Iguchi, T., Masuda, T., Nakahara, Y., Hirata, H., Uchi, R., Niida, A., Momose, K., Sakimura, S., Chiba, K., et al. Somatic mutations in plasma cell-free DNA are diagnostic markers for esophageal squamous cell carcinoma recurrence. Oncotarget 2016, 7, 62280-62291.
-
(2016)
Oncotarget
, vol.7
, pp. 62280-62291
-
-
Ueda, M.1
Iguchi, T.2
Masuda, T.3
Nakahara, Y.4
Hirata, H.5
Uchi, R.6
Niida, A.7
Momose, K.8
Sakimura, S.9
Chiba, K.10
-
282
-
-
84941889109
-
Whole Genome Amplification in Genomic Analysis of Single Circulating Tumor Cells
-
Gasch, C., Pantel, K., Riethdorf, S. Whole Genome Amplification in Genomic Analysis of Single Circulating Tumor Cells. Methods Mol. Biol. 2015, 1347, 221-232.
-
(2015)
Methods Mol. Biol
, vol.1347
, pp. 221-232
-
-
Gasch, C.1
Pantel, K.2
Riethdorf, S.3
-
283
-
-
0031826288
-
Hypothesis: Comparisons of inter-and intra-individual variations can substitute for twin studies in drug research
-
Kalow, W., Tang, B.K., Endrenyi, L. Hypothesis: Comparisons of inter-and intra-individual variations can substitute for twin studies in drug research. Pharmacogenetics 1998, 8, 283-289.
-
(1998)
Pharmacogenetics
, vol.8
, pp. 283-289
-
-
Kalow, W.1
Tang, B.K.2
Endrenyi, L.3
-
284
-
-
84922432224
-
Direct health care costs of hospital admissions due to adverse events in The Netherlands
-
Magdelijns, F.J., Stassen, P.M., Stehouwer, C.D., Pijpers, E. Direct health care costs of hospital admissions due to adverse events in The Netherlands. Eur. J. Public Health 2014, 24, 1028-1033.
-
(2014)
Eur. J. Public Health
, vol.24
, pp. 1028-1033
-
-
Magdelijns, F.J.1
Stassen, P.M.2
Stehouwer, C.D.3
Pijpers, E.4
-
285
-
-
84949266770
-
Genomics of Cancer and a New Era for Cancer Prevention
-
Brennan, P., Wild, C.P. Genomics of Cancer and a New Era for Cancer Prevention. PLoS Genet. 2015, 11, e1005522.
-
(2015)
Plos Genet
, vol.11
-
-
Brennan, P.1
Wild, C.P.2
-
286
-
-
84991740150
-
Cancer pharmacogenomics, challenges in implementation, and patient-focused perspectives
-
Patel, J.N. Cancer pharmacogenomics, challenges in implementation, and patient-focused perspectives. Pharmgenomics Pers. Med. 2016, 9, 65-77.
-
(2016)
Pharmgenomics Pers. Med
, vol.9
, pp. 65-77
-
-
Patel, J.N.1
-
287
-
-
80052944892
-
Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity
-
Amstutz, U., Froehlich, T.K., Largiader, C.R. Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Pharmacogenomics 2011, 12, 1321-1336.
-
(2011)
Pharmacogenomics
, vol.12
, pp. 1321-1336
-
-
Amstutz, U.1
Froehlich, T.K.2
Largiader, C.R.3
-
288
-
-
77953808041
-
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
-
Van Kuilenburg, A.B., Dobritzsch, D., Meijer, J., Meinsma, R., Benoist, J.F., Assmann, B., Schubert, S., Hoffmann, G.F., Duran, M., de Vries, M.C., et al. Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Biochim. Biophys. Acta 2010, 1802, 639-648.
-
(2010)
Biochim. Biophys. Acta
, vol.1802
, pp. 639-648
-
-
Van Kuilenburg, A.B.1
Dobritzsch, D.2
Meijer, J.3
Meinsma, R.4
Benoist, J.F.5
Assmann, B.6
Schubert, S.7
Hoffmann, G.F.8
Duran, M.9
De Vries, M.C.10
-
289
-
-
84925485120
-
Germline oncopharmacogenetics, a promising field in cancer therapy
-
Pesenti, C., Gusella, M., Sirchia, S.M., Miozzo, M. Germline oncopharmacogenetics, a promising field in cancer therapy. Cell. Oncol. (Dordr) 2015, 38, 65-89.
-
(2015)
Cell. Oncol. (Dordr)
, vol.38
, pp. 65-89
-
-
Pesenti, C.1
Gusella, M.2
Sirchia, S.M.3
Miozzo, M.4
-
290
-
-
84866611528
-
Pharmacogenomics knowledge for personalized medicine
-
Whirl-Carrillo, M., McDonagh, E.M., Hebert, J.M., Gong, L., Sangkuhl, K., Thorn, C.F., Altman, R.B., Klein, T.E. Pharmacogenomics knowledge for personalized medicine. Clin. Pharmacol. Ther. 2012, 92, 414-417.
-
(2012)
Clin. Pharmacol. Ther
, vol.92
, pp. 414-417
-
-
Whirl-Carrillo, M.1
McDonagh, E.M.2
Hebert, J.M.3
Gong, L.4
Sangkuhl, K.5
Thorn, C.F.6
Altman, R.B.7
Klein, T.E.8
-
291
-
-
84911006276
-
Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity
-
Froehlich, T.K., Amstutz, U., Aebi, S., Joerger, M., Largiader, C.R. Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. Int. J. Cancer 2015, 136, 730-739.
-
(2015)
Int. J. Cancer
, vol.136
, pp. 730-739
-
-
Froehlich, T.K.1
Amstutz, U.2
Aebi, S.3
Joerger, M.4
Largiader, C.R.5
-
292
-
-
84861494090
-
Influence of genetic polymorphisms on the effect of high-and standard-dose clopidogrel after percutaneous coronary intervention: The GIFT (Genotype Information and Functional Testing) study
-
Price, M.J., Murray, S.S., Angiolillo, D.J., Lillie, E., Smith, E.N., Tisch, R.L., Schork, N.J., Teirstein, P.S., Topol, E.J., Investigators, G. Influence of genetic polymorphisms on the effect of high-and standard-dose clopidogrel after percutaneous coronary intervention: The GIFT (Genotype Information and Functional Testing) study. J. Am. Coll. Cardiol. 2012, 59, 1928-1937.
-
(2012)
J. Am. Coll. Cardiol
, vol.59
, pp. 1928-1937
-
-
Price, M.J.1
Murray, S.S.2
Angiolillo, D.J.3
Lillie, E.4
Smith, E.N.5
Tisch, R.L.6
Schork, N.J.7
Teirstein, P.S.8
Topol, E.J.9
Investigators, G.10
-
293
-
-
84883876168
-
Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression
-
Tammiste, A., Jiang, T., Fischer, K., Magi, R., Krjutskov, K., Pettai, K., Esko, T., Li, Y., Tansey, K.E., Carroll, L.S., et al. Whole-exome sequencing identifies a polymorphism in the BMP5 gene associated with SSRI treatment response in major depression. J. Psychopharmacol. 2013, 27, 915-920.
-
(2013)
J. Psychopharmacol
, vol.27
, pp. 915-920
-
-
Tammiste, A.1
Jiang, T.2
Fischer, K.3
Magi, R.4
Krjutskov, K.5
Pettai, K.6
Esko, T.7
Li, Y.8
Tansey, K.E.9
Carroll, L.S.10
-
294
-
-
84897116868
-
Exome sequence analysis of Finnish patients with clozapine-induced agranulocytosis. Mol
-
Tiwari, A.K., Need, A.C., Lohoff, F.W., Zai, C.C., Chowdhury, N.I., Muller, D.J., Putkonen, A., Repo-Tiihonen, E., Hallikainen, T., Yagcioglu, A.E., et al. Exome sequence analysis of Finnish patients with clozapine-induced agranulocytosis. Mol. Psychiatry 2014, 19, 403-405.
-
(2014)
Psychiatry
, vol.19
, pp. 403-405
-
-
Tiwari, A.K.1
Need, A.C.2
Lohoff, F.W.3
Zai, C.C.4
Chowdhury, N.I.5
Muller, D.J.6
Putkonen, A.7
Repo-Tiihonen, E.8
Hallikainen, T.9
Yagcioglu, A.E.10
-
295
-
-
84921033105
-
Whole-exome sequencing reveals defective CYP3A4 variants predictive of paclitaxel dose-limiting neuropathy
-
Apellaniz-Ruiz, M., Lee, M.Y., Sanchez-Barroso, L., Gutierrez-Gutierrez, G., Calvo, I., Garcia-Estevez, L., Sereno, M., Garcia-Donas, J., Castelo, B., Guerra, E., et al. Whole-exome sequencing reveals defective CYP3A4 variants predictive of paclitaxel dose-limiting neuropathy. Clin. Cancer Res. 2015, 21, 322-328.
-
(2015)
Clin. Cancer Res
, vol.21
, pp. 322-328
-
-
Apellaniz-Ruiz, M.1
Lee, M.Y.2
Sanchez-Barroso, L.3
Gutierrez-Gutierrez, G.4
Calvo, I.5
Garcia-Estevez, L.6
Sereno, M.7
Garcia-Donas, J.8
Castelo, B.9
Guerra, E.10
-
296
-
-
77951589703
-
Clinical assessment incorporating a personal genome
-
Ashley, E.A., Butte, A.J., Wheeler, M.T., Chen, R., Klein, T.E., Dewey, F.E., Dudley, J.T., Ormond, K.E., Pavlovic, A., Morgan, A.A., et al. Clinical assessment incorporating a personal genome. Lancet 2010, 375, 1525-1535.
-
(2010)
Lancet
, vol.375
, pp. 1525-1535
-
-
Ashley, E.A.1
Butte, A.J.2
Wheeler, M.T.3
Chen, R.4
Klein, T.E.5
Dewey, F.E.6
Dudley, J.T.7
Ormond, K.E.8
Pavlovic, A.9
Morgan, A.A.10
-
297
-
-
84979866944
-
Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach
-
Karageorgos, I., Mizzi, C., Giannopoulou, E., Pavlidis, C., Peters, B.A., Zagoriti, Z., Stenson, P.D., Mitropoulos, K., Borg, J., Kalofonos, H.P., et al. Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach. Hum. Genom. 2015, 9, 12, doi:10.1186/s40246-015-0034-2.
-
(2015)
Hum. Genom
, vol.9
, pp. 12
-
-
Karageorgos, I.1
Mizzi, C.2
Giannopoulou, E.3
Pavlidis, C.4
Peters, B.A.5
Zagoriti, Z.6
Stenson, P.D.7
Mitropoulos, K.8
Borg, J.9
Kalofonos, H.P.10
-
298
-
-
84986625386
-
Comparison of genome sequencing and clinical genotyping for pharmacogenes
-
Yang, W., Wu, G., Broeckel, U., Smith, C.A., Turner, V., Haidar, C.E., Wang, S., Carter, R., Karol, S.E., Neale, G., et al. Comparison of genome sequencing and clinical genotyping for pharmacogenes. Clin. Pharmacol. Ther. 2016, 100, 380-388.
-
(2016)
Clin. Pharmacol. Ther
, vol.100
, pp. 380-388
-
-
Yang, W.1
Wu, G.2
Broeckel, U.3
Smith, C.A.4
Turner, V.5
Haidar, C.E.6
Wang, S.7
Carter, R.8
Karol, S.E.9
Neale, G.10
-
299
-
-
84900854522
-
Incorporation of pharmacogenomics into routine clinical practice: The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process
-
Caudle, K.E., Klein, T.E., Hoffman, J.M., Muller, D.J., Whirl-Carrillo, M., Gong, L., McDonagh, E.M., Sangkuhl, K., Thorn, C.F., Schwab, M., et al. Incorporation of pharmacogenomics into routine clinical practice: The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline development process. Curr. Drug Metab. 2014, 15, 209-217.
-
(2014)
Curr. Drug Metab
, vol.15
, pp. 209-217
-
-
Caudle, K.E.1
Klein, T.E.2
Hoffman, J.M.3
Muller, D.J.4
Whirl-Carrillo, M.5
Gong, L.6
McDonagh, E.M.7
Sangkuhl, K.8
Thorn, C.F.9
Schwab, M.10
-
300
-
-
79955463893
-
Pharmacogenetics: From bench to byte—An update of guidelines
-
Swen, J.J., Nijenhuis, M., de Boer, A., Grandia, L., Maitland-vanderZee, A.H., Mulder, H., Rongen, G.A., van Schaik, R.H., Schalekamp, T., Touw, D.J., et al. Pharmacogenetics: From bench to byte—An update of guidelines. Clin. Pharmacol. Ther. 2011, 89, 662-673.
-
(2011)
Clin. Pharmacol. Ther
, vol.89
, pp. 662-673
-
-
Swen, J.J.1
Nijenhuis, M.2
De Boer, A.3
Grandia, L.4
Maitland-Vanderzee, A.H.5
Mulder, H.6
Rongen, G.A.7
Van Schaik, R.H.8
Schalekamp, T.9
Touw, D.J.10
-
301
-
-
84906539283
-
Personalized pharmacogenomics profiling using whole-genome sequencing
-
Mizzi, C., Peters, B., Mitropoulou, C., Mitropoulos, K., Katsila, T., Agarwal, M.R., van Schaik, R.H., Drmanac, R., Borg, J., Patrinos, G.P. Personalized pharmacogenomics profiling using whole-genome sequencing. Pharmacogenomics 2014, 15, 1223-1234.
-
(2014)
Pharmacogenomics
, vol.15
, pp. 1223-1234
-
-
Mizzi, C.1
Peters, B.2
Mitropoulou, C.3
Mitropoulos, K.4
Katsila, T.5
Agarwal, M.R.6
Van Schaik, R.H.7
Drmanac, R.8
Borg, J.9
Patrinos, G.P.10
-
302
-
-
84856008906
-
Differential oestrogen receptor binding is associated with clinical outcome in breast cancer
-
Ross-Innes, C.S., Stark, R., Teschendorff, A.E., Holmes, K.A., Ali, H.R., Dunning, M.J., Brown, G.D., Gojis, O., Ellis, I.O., Green, A.R., et al. Differential oestrogen receptor binding is associated with clinical outcome in breast cancer. Nature 2012, 481, 389-393.
-
(2012)
Nature
, vol.481
, pp. 389-393
-
-
Ross-Innes, C.S.1
Stark, R.2
Teschendorff, A.E.3
Holmes, K.A.4
Ali, H.R.5
Dunning, M.J.6
Brown, G.D.7
Gojis, O.8
Ellis, I.O.9
Green, A.R.10
-
303
-
-
84977544817
-
Comparative Cistromics Reveals Genomic Cross-talk between FOXA1 and ERα in Tamoxifen-Associated Endometrial Carcinomas
-
Droog, M., Nevedomskaya, E., Kim, Y., Severson, T., Flach, K.D., Opdam, M., Schuurman, K., Gradowska, P., Hauptmann, M., Dackus, G., et al. Comparative Cistromics Reveals Genomic Cross-talk between FOXA1 and ERα in Tamoxifen-Associated Endometrial Carcinomas. Cancer Res. 2016, 76, 3773-3784.
-
(2016)
Cancer Res
, vol.76
, pp. 3773-3784
-
-
Droog, M.1
Nevedomskaya, E.2
Kim, Y.3
Severson, T.4
Flach, K.D.5
Opdam, M.6
Schuurman, K.7
Gradowska, P.8
Hauptmann, M.9
Dackus, G.10
-
304
-
-
84898679051
-
Epigenetics meets genetics in acute myeloid leukemia: Clinical impact of a novel seven-gene score
-
Marcucci, G., Yan, P., Maharry, K., Frankhouser, D., Nicolet, D., Metzeler, K.H., Kohlschmidt, J., Mrozek, K., Wu, Y.Z., Bucci, D., et al. Epigenetics meets genetics in acute myeloid leukemia: Clinical impact of a novel seven-gene score. J. Clin. Oncol. 2014, 32, 548-556.
-
(2014)
J. Clin. Oncol
, vol.32
, pp. 548-556
-
-
Marcucci, G.1
Yan, P.2
Maharry, K.3
Frankhouser, D.4
Nicolet, D.5
Metzeler, K.H.6
Kohlschmidt, J.7
Mrozek, K.8
Wu, Y.Z.9
Bucci, D.10
-
305
-
-
84925533283
-
Methylation profiling of 48 candidate genes in tumor and matched normal tissues from breast cancer patients
-
Li, Z., Guo, X., Wu, Y., Li, S., Yan, J., Peng, L., Xiao, Z., Wang, S., Deng, Z., Dai, L., et al. Methylation profiling of 48 candidate genes in tumor and matched normal tissues from breast cancer patients. Breast Cancer Res. Treat. 2015, 149, 767-779.
-
(2015)
Breast Cancer Res. Treat
, vol.149
, pp. 767-779
-
-
Li, Z.1
Guo, X.2
Wu, Y.3
Li, S.4
Yan, J.5
Peng, L.6
Xiao, Z.7
Wang, S.8
Deng, Z.9
Dai, L.10
-
306
-
-
84908501196
-
Characterization of microRNA transcriptome in lung cancer by next-generation deep sequencing
-
Ma, J., Mannoor, K., Gao, L., Tan, A., Guarnera, M.A., Zhan, M., Shetty, A., Stass, S.A., Xing, L., Jiang, F. Characterization of microRNA transcriptome in lung cancer by next-generation deep sequencing. Mol. Oncol. 2014, 8, 1208-1219.
-
(2014)
Mol. Oncol
, vol.8
, pp. 1208-1219
-
-
Ma, J.1
Mannoor, K.2
Gao, L.3
Tan, A.4
Guarnera, M.A.5
Zhan, M.6
Shetty, A.7
Stass, S.A.8
Xing, L.9
Jiang, F.10
-
307
-
-
85019182484
-
Ribosome profiling reveals translation control as a key mechanism generating differential gene expression in Trypanosoma cruzi
-
Smircich, P., Eastman, G., Bispo, S., Duhagon, M.A., Guerra-Slompo, E.P., Garat, B., Goldenberg, S., Munroe, D.J., Dallagiovanna, B., Holetz, F., et al. Ribosome profiling reveals translation control as a key mechanism generating differential gene expression in Trypanosoma cruzi. BMC Genom. 2015, 16, 443.
-
(2015)
BMC Genom
, vol.16
, pp. 443
-
-
Smircich, P.1
Eastman, G.2
Bispo, S.3
Duhagon, M.A.4
Guerra-Slompo, E.P.5
Garat, B.6
Goldenberg, S.7
Munroe, D.J.8
Dallagiovanna, B.9
Holetz, F.10
-
308
-
-
84959541974
-
Translatome profiling: Methods for genome-scale analysis of mRNA translation
-
King, H.A., Gerber, A.P. Translatome profiling: Methods for genome-scale analysis of mRNA translation. Brief Funct. Genom. 2016, 15, 22-31.
-
(2016)
Brief Funct. Genom
, vol.15
, pp. 22-31
-
-
King, H.A.1
Gerber, A.P.2
-
309
-
-
84906841915
-
Microsatellite instability detection by next generation sequencing
-
Salipante, S.J., Scroggins, S.M., Hampel, H.L., Turner, E.H., Pritchard, C.C. Microsatellite instability detection by next generation sequencing. Clin. Chem. 2014, 60, 1192-1199.
-
(2014)
Clin. Chem
, vol.60
, pp. 1192-1199
-
-
Salipante, S.J.1
Scroggins, S.M.2
Hampel, H.L.3
Turner, E.H.4
Pritchard, C.C.5
-
310
-
-
84904264208
-
Points to consider in the clinical use of NGS panels for mitochondrial disease: An analysis of gene inclusion and consent forms
-
Platt, J., Cox, R., Enns, G.M. Points to consider in the clinical use of NGS panels for mitochondrial disease: An analysis of gene inclusion and consent forms. J. Genet. Couns. 2014, 23, 594-603.
-
(2014)
J. Genet. Couns
, vol.23
, pp. 594-603
-
-
Platt, J.1
Cox, R.2
Enns, G.M.3
-
311
-
-
84898647497
-
Detection of viral pathogens in high grade gliomas from unmapped next-generation sequencing data
-
Cimino, P.J., Zhao, G., Wang, D., Sehn, J.K., Lewis, J.S., Jr., Duncavage, E.J. Detection of viral pathogens in high grade gliomas from unmapped next-generation sequencing data. Exp. Mol. Pathol. 2014, 96, 310-315.
-
(2014)
Exp. Mol. Pathol
, vol.96
, pp. 310-315
-
-
Cimino, P.J.1
Zhao, G.2
Wang, D.3
Sehn, J.K.4
Lewis, J.S.5
Duncavage, E.J.6
-
312
-
-
85011715479
-
-
accessed on 7 November 2016)
-
AWMF. Available online: http://www.awmf.org/awmf-online-das-portal-der-wissenschaftlichen-medizin/awmf-aktuell.html (accessed on 7 November 2016).
-
-
-
-
313
-
-
85011640525
-
-
accessed on 11 November 2016)
-
National-Comprehensive-Cancer-Network. Available online: https://www.nccn.org (accessed on 11 November 2016).
-
-
-
-
314
-
-
84925267232
-
Patient experiences with gene panels based on exome sequencing in clinical diagnostics
-
Sie, A.S., Prins, J.B., van Zelst-Stams, W.A., Veltman, J.A., Feenstra, I., Hoogerbrugge, N. Patient experiences with gene panels based on exome sequencing in clinical diagnostics: High acceptance and low distress. Clin. Genet. 2015, 87, 319-326.
-
(2015)
High Acceptance and Low Distress. Clin. Genet.
, vol.87
, pp. 319-326
-
-
Sie, A.S.1
Prins, J.B.2
Van Zelst-Stams, W.A.3
Veltman, J.A.4
Feenstra, I.5
Hoogerbrugge, N.6
-
315
-
-
84938831841
-
Use of panel tests in place of single gene tests in the cancer genetics clinic
-
Yorczyk, A., Robinson, L.S., Ross, T.S. Use of panel tests in place of single gene tests in the cancer genetics clinic. Clin. Genet. 2015, 88, 278-282.
-
(2015)
Clin. Genet
, vol.88
, pp. 278-282
-
-
Yorczyk, A.1
Robinson, L.S.2
Ross, T.S.3
-
316
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
Johnston, J.J., Rubinstein, W.S., Facio, F.M., Ng, D., Singh, L.N., Teer, J.K., Mullikin, J.C., Biesecker, L.G. Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. Am. J. Hum. Genet. 2012, 91, 97-108.
-
(2012)
Am. J. Hum. Genet
, vol.91
, pp. 97-108
-
-
Johnston, J.J.1
Rubinstein, W.S.2
Facio, F.M.3
Ng, D.4
Singh, L.N.5
Teer, J.K.6
Mullikin, J.C.7
Biesecker, L.G.8
-
317
-
-
84881420673
-
Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics
-
Van El, C.G., Cornel, M.C., Borry, P., Hastings, R.J., Fellmann, F., Hodgson, S.V., Howard, H.C., Cambon-Thomsen, A., Knoppers, B.M., Meijers-Heijboer, H., et al. Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. Eur. J. Hum. Genet. 2013, 21, S1-S5.
-
(2013)
Eur. J. Hum. Genet
, vol.21
, pp. S1-S5
-
-
Van El, C.G.1
Cornel, M.C.2
Borry, P.3
Hastings, R.J.4
Fellmann, F.5
Hodgson, S.V.6
Howard, H.C.7
Cambon-Thomsen, A.8
Knoppers, B.M.9
Meijers-Heijboer, H.10
-
318
-
-
85011652125
-
-
accessed on 11 November 2016)
-
Eurogentest. Available online: http://www.eurogentest.org (accessed on 11 November 2016).
-
-
-
-
319
-
-
84879442717
-
Dynamics and ethics of comprehensive preimplantation genetic testing: A review of the challenges
-
Hens, K., Dondorp, W., Handyside, A.H., Harper, J., Newson, A.J., Pennings, G., Rehmann-Sutter, C., de Wert, G. Dynamics and ethics of comprehensive preimplantation genetic testing: A review of the challenges. Hum. Reprod. Update 2013, 19, 366-375.
-
(2013)
Hum. Reprod. Update
, vol.19
, pp. 366-375
-
-
Hens, K.1
Dondorp, W.2
Handyside, A.H.3
Harper, J.4
Newson, A.J.5
Pennings, G.6
Rehmann-Sutter, C.7
De Wert, G.8
-
320
-
-
84904288887
-
Pennings, G. ESHRE task force on ethics and Law22: Preimplantation genetic diagnosis
-
De Wert, G., Dondorp, W., Shenfield, F., Devroey, P., Tarlatzis, B., Barri, P., Diedrich, K., Provoost, V., Pennings, G. ESHRE task force on ethics and Law22: Preimplantation genetic diagnosis. Hum. Reprod. 2014, 29, 1610-1617.
-
(2014)
Hum. Reprod
, vol.29
, pp. 1610-1617
-
-
De Wert, G.1
Dondorp, W.2
Shenfield, F.3
Devroey, P.4
Tarlatzis, B.5
Barri, P.6
Diedrich, K.7
Provoost, V.8
-
321
-
-
85011656359
-
-
accessed on 11 November 2016)
-
KNMP. Available online: https://www.knmp.nl/patientenzorg/medicatiebewaking/farmacogenetica (accessed on 11 November 2016).
-
-
-
-
322
-
-
84937143656
-
Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis
-
Gallego, C.J., Shirts, B.H., Bennette, C.S., Guzauskas, G., Amendola, L.M., Horike-Pyne, M., Hisama, F.M., Pritchard, C.C., Grady, W.M., Burke, W., et al. Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis. J. Clin. Oncol. 2015, 33, 2084-2091.
-
(2015)
J. Clin. Oncol
, vol.33
, pp. 2084-2091
-
-
Gallego, C.J.1
Shirts, B.H.2
Bennette, C.S.3
Guzauskas, G.4
Amendola, L.M.5
Horike-Pyne, M.6
Hisama, F.M.7
Pritchard, C.C.8
Grady, W.M.9
Burke, W.10
-
323
-
-
84949511984
-
Next Generation Sequencing in the Clinic: A Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome
-
Gallego, C.J., Perez, M.L., Burt, A., Amendola, L.M., Shirts, B.H., Pritchard, C.C., Hisama, F.M., Bennett, R.L., Veenstra, D.L., Jarvik, G.P. Next Generation Sequencing in the Clinic: A Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome. J. Genet. Couns. 2016, 25, 515-519.
-
(2016)
J. Genet. Couns
, vol.25
, pp. 515-519
-
-
Gallego, C.J.1
Perez, M.L.2
Burt, A.3
Amendola, L.M.4
Shirts, B.H.5
Pritchard, C.C.6
Hisama, F.M.7
Bennett, R.L.8
Veenstra, D.L.9
Jarvik, G.P.10
-
324
-
-
84989836663
-
Improving performance of multigene panels for genomic analysis of cancer predisposition
-
Shirts, B.H., Casadei, S., Jacobson, A.L., Lee, M.K., Gulsuner, S., Bennett, R.L., Miller, M., Hall, S.A., Hampel, H., Hisama, F.M., et al. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet. Med. 2016, 18, 974-981.
-
(2016)
Genet. Med
, vol.18
, pp. 974-981
-
-
Shirts, B.H.1
Casadei, S.2
Jacobson, A.L.3
Lee, M.K.4
Gulsuner, S.5
Bennett, R.L.6
Miller, M.7
Hall, S.A.8
Hampel, H.9
Hisama, F.M.10
-
325
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
-
Amendola, L.M., Dorschner, M.O., Robertson, P.D., Salama, J.S., Hart, R., Shirts, B.H., Murray, M.L., Tokita, M.J., Gallego, C.J., Kim, D.S., et al. Actionable exomic incidental findings in 6503 participants: Challenges of variant classification. Genome Res. 2015, 25, 305-315.
-
(2015)
Genome Res
, vol.25
, pp. 305-315
-
-
Amendola, L.M.1
Dorschner, M.O.2
Robertson, P.D.3
Salama, J.S.4
Hart, R.5
Shirts, B.H.6
Murray, M.L.7
Tokita, M.J.8
Gallego, C.J.9
Kim, D.S.10
|