-
1
-
-
84907298200
-
Genetic/familial high-risk assessment: Breast and ovarian, version 1.2014
-
M.B. Daly, R. Pilarski, J.E. Axilbund, S.S. Buys, B. Crawford, S. Friedman, J.E. Garber, C. Horton, V. Kaklamani, C. Klein, et al. National comprehensive cancer network Genetic/familial high-risk assessment: breast and ovarian, version 1.2014 J. Natl. Compr. Canc. Netw. 12 2014 1326 1338
-
(2014)
J. Natl. Compr. Canc. Netw.
, vol.12
, pp. 1326-1338
-
-
Daly, M.B.1
Pilarski, R.2
Axilbund, J.E.3
Buys, S.S.4
Crawford, B.5
Friedman, S.6
Garber, J.E.7
Horton, C.8
Kaklamani, V.9
Klein, C.10
-
2
-
-
84865688579
-
Cancer treatment according to BRCA1 and BRCA2 mutations
-
K.N. Maxwell, and S.M. Domchek Cancer treatment according to BRCA1 and BRCA2 mutations Nat. Rev. Clin. Oncol. 9 2012 520 528
-
(2012)
Nat. Rev. Clin. Oncol.
, vol.9
, pp. 520-528
-
-
Maxwell, K.N.1
Domchek, S.M.2
-
4
-
-
84875703379
-
Large-scale genotyping identifies 41 new loci associated with breast cancer risk
-
Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) kConFab Investigators Australian Ovarian Cancer Study Group GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network e1-e2
-
K. Michailidou, P. Hall, A. Gonzalez-Neira, M. Ghoussaini, J. Dennis, R.L. Milne, M.K. Schmidt, J. Chang-Claude, S.E. Bojesen, M.K. Bolla, et al. Breast and Ovarian Cancer Susceptibility Collaboration Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) kConFab Investigators Australian Ovarian Cancer Study Group GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network Large-scale genotyping identifies 41 new loci associated with breast cancer risk Nat. Genet. 45 2013 353 361, e1-e2
-
(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
-
5
-
-
84873696289
-
Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles
-
F.J. Gracia-Aznarez, V. Fernandez, G. Pita, P. Peterlongo, O. Dominguez, M. de la Hoya, M. Duran, A. Osorio, L. Moreno, A. Gonzalez-Neira, and 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 8 2013 e55681
-
(2013)
PLoS ONE
, vol.8
, pp. e55681
-
-
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
-
6
-
-
84859479737
-
Rare mutations in XRCC2 increase the risk of breast cancer
-
Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer
-
D.J. Park, F. Lesueur, T. Nguyen-Dumont, M. Pertesi, F. Odefrey, F. Hammet, S.L. Neuhausen, E.M. John, I.L. Andrulis, M.B. Terry, et al. Breast Cancer Family Registry Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer Rare mutations in XRCC2 increase the risk of breast cancer Am. J. Hum. Genet. 90 2012 734 739
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 734-739
-
-
Park, D.J.1
Lesueur, F.2
Nguyen-Dumont, T.3
Pertesi, M.4
Odefrey, F.5
Hammet, F.6
Neuhausen, S.L.7
John, E.M.8
Andrulis, I.L.9
Terry, M.B.10
-
7
-
-
84872621246
-
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
-
Wellcome Trust Case Control Consortium
-
E. Ruark, K. Snape, P. Humburg, C. Loveday, I. Bajrami, R. Brough, D.N. Rodrigues, A. Renwick, S. Seal, E. Ramsay, et al. Breast and Ovarian Cancer Susceptibility Collaboration Wellcome Trust Case Control Consortium Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer Nature 493 2013 406 410
-
(2013)
Nature
, vol.493
, pp. 406-410
-
-
Ruark, E.1
Snape, K.2
Humburg, P.3
Loveday, C.4
Bajrami, I.5
Brough, R.6
Rodrigues, D.N.7
Renwick, A.8
Seal, S.9
Ramsay, E.10
-
8
-
-
84904049854
-
Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers
-
D.J. Park, K. Tao, F. Le Calvez-Kelm, T. Nguyen-Dumont, N. Robinot, F. Hammet, F. Odefrey, H. Tsimiklis, Z.L. Teo, L.B. Thingholm, and et al. Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers Cancer Discov. 4 2014 804 815
-
(2014)
Cancer Discov.
, vol.4
, pp. 804-815
-
-
Park, D.J.1
Tao, K.2
Le Calvez-Kelm, F.3
Nguyen-Dumont, T.4
Robinot, N.5
Hammet, F.6
Odefrey, F.7
Tsimiklis, H.8
Teo, Z.L.9
Thingholm, L.B.10
-
9
-
-
84866932831
-
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles
-
E.R. Thompson, M.A. Doyle, G.L. Ryland, S.M. Rowley, D.Y. Choong, R.W. Tothill, H. Thorne, D.R. Barnes, J. Li, J. Ellul, et al. kConFab Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles PLoS Genet. 8 2012 e1002894
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002894
-
-
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
Barnes, D.R.8
Li, J.9
Ellul, J.10
-
10
-
-
84908031249
-
Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
-
J.I. Kiiski, L.M. Pelttari, S. Khan, E.S. Freysteinsdottir, I. Reynisdottir, S.N. Hart, H. Shimelis, S. Vilske, A. Kallioniemi, J. Schleutker, and et al. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer Proc. Natl. Acad. Sci. USA 111 2014 15172 15177
-
(2014)
Proc. Natl. Acad. Sci. USA
, vol.111
, pp. 15172-15177
-
-
Kiiski, J.I.1
Pelttari, L.M.2
Khan, S.3
Freysteinsdottir, E.S.4
Reynisdottir, I.5
Hart, S.N.6
Shimelis, H.7
Vilske, S.8
Kallioniemi, A.9
Schleutker, J.10
-
11
-
-
84873160825
-
Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling
-
F.S. Hilbers, C.M. Meijers, J.F. Laros, M. van Galen, N. Hoogerbrugge, H.F. Vasen, P.M. Nederlof, J.T. Wijnen, C.J. van Asperen, and P. Devilee Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling PLoS ONE 8 2013 e55734
-
(2013)
PLoS ONE
, vol.8
, pp. e55734
-
-
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
-
12
-
-
84896959827
-
Cancer genomics and inherited risk
-
Z.K. Stadler, K.A. Schrader, J. Vijai, M.E. Robson, and K. Offit Cancer genomics and inherited risk J. Clin. Oncol. 32 2014 687 698
-
(2014)
J. Clin. Oncol.
, vol.32
, pp. 687-698
-
-
Stadler, Z.K.1
Schrader, K.A.2
Vijai, J.3
Robson, M.E.4
Offit, K.5
-
13
-
-
84908502657
-
Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes
-
L. Castéra, S. Krieger, A. Rousselin, A. Legros, J.J. Baumann, O. Bruet, B. Brault, R. Fouillet, N. Goardon, O. Letac, and 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. 22 2014 1305 1313
-
(2014)
Eur. J. Hum. Genet.
, vol.22
, pp. 1305-1313
-
-
Castéra, 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
-
14
-
-
84921898753
-
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer
-
F.J. Couch, S.N. Hart, P. Sharma, A.E. Toland, X. Wang, P. Miron, J.E. Olson, A.K. Godwin, V.S. Pankratz, C. Olswold, and et al. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer J. Clin. Oncol. 33 2015 304 311
-
(2015)
J. Clin. Oncol.
, vol.33
, pp. 304-311
-
-
Couch, F.J.1
Hart, S.N.2
Sharma, P.3
Toland, A.E.4
Wang, X.5
Miron, P.6
Olson, J.E.7
Godwin, A.K.8
Pankratz, V.S.9
Olswold, C.10
-
15
-
-
84904750123
-
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment
-
A.W. Kurian, E.E. Hare, M.A. Mills, K.E. Kingham, L. McPherson, A.S. Whittemore, V. McGuire, U. Ladabaum, Y. Kobayashi, S.E. Lincoln, and et al. Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment J. Clin. Oncol. 32 2014 2001 2009
-
(2014)
J. Clin. Oncol.
, vol.32
, pp. 2001-2009
-
-
Kurian, A.W.1
Hare, E.E.2
Mills, M.A.3
Kingham, K.E.4
McPherson, L.5
Whittemore, A.S.6
McGuire, V.7
Ladabaum, U.8
Kobayashi, Y.9
Lincoln, S.E.10
-
16
-
-
84908881428
-
Utilization of multigene panels in hereditary cancer predisposition testing: Analysis of more than 2,000 patients
-
H. LaDuca, A.J. Stuenkel, J.S. Dolinsky, S. Keiles, S. Tandy, T. Pesaran, E. Chen, C.L. Gau, E. Palmaer, K. Shoaepour, and et al. Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients Genet. Med. 16 2014 830 837
-
(2014)
Genet. 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
-
17
-
-
84938695932
-
Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer
-
K.N. Maxwell, B. Wubbenhorst, K. D'Andrea, B. Garman, J.M. Long, J. Powers, K. Rathbun, J.E. Stopfer, J. Zhu, A.R. Bradbury, and et al. Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer Genet. Med. 17 2015 630 638
-
(2015)
Genet. Med.
, vol.17
, pp. 630-638
-
-
Maxwell, K.N.1
Wubbenhorst, B.2
D'Andrea, K.3
Garman, B.4
Long, J.M.5
Powers, J.6
Rathbun, K.7
Stopfer, J.E.8
Zhu, J.9
Bradbury, A.R.10
-
18
-
-
84918798338
-
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel
-
N. Tung, C. Battelli, B. Allen, R. Kaldate, S. Bhatnagar, K. Bowles, K. Timms, J.E. Garber, C. Herold, L. Ellisen, and 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 121 2015 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
-
19
-
-
84907395628
-
Diagnostic clinical genome and exome sequencing
-
L.G. Biesecker, and R.C. Green Diagnostic clinical genome and exome sequencing N. Engl. J. Med. 371 2014 1170
-
(2014)
N. Engl. J. Med.
, vol.371
, pp. 1170
-
-
Biesecker, L.G.1
Green, R.C.2
-
20
-
-
84922382013
-
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing
-
D. Chubb, P. Broderick, M. Frampton, B. Kinnersley, A. Sherborne, S. Penegar, A. Lloyd, Y.P. Ma, S.E. Dobbins, and R.S. Houlston Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing J. Clin. Oncol. 33 2015 426 432
-
(2015)
J. Clin. Oncol.
, vol.33
, pp. 426-432
-
-
Chubb, D.1
Broderick, P.2
Frampton, M.3
Kinnersley, B.4
Sherborne, A.5
Penegar, S.6
Lloyd, A.7
Ma, Y.P.8
Dobbins, S.E.9
Houlston, R.S.10
-
21
-
-
84880535720
-
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
-
R.C. Green, J.S. Berg, W.W. Grody, S.S. Kalia, B.R. Korf, C.L. Martin, A.L. McGuire, R.L. Nussbaum, J.M. O'Daniel, K.E. Ormond, et al. American College of Medical Genetics and Genomics ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing Genet. Med. 15 2013 565 574
-
(2013)
Genet. Med.
, vol.15
, pp. 565-574
-
-
Green, R.C.1
Berg, J.S.2
Grody, W.W.3
Kalia, S.S.4
Korf, B.R.5
Martin, C.L.6
McGuire, A.L.7
Nussbaum, R.L.8
O'Daniel, J.M.9
Ormond, K.E.10
-
22
-
-
84920545337
-
Reporting genomic secondary findings: ACMG members weigh in
-
M.T. Scheuner, J. Peredo, J. Benkendorf, B. Bowdish, G. Feldman, L. Fleisher, J.J. Mulvihill, M. Watson, G.E. Herman, and J. Evans Reporting genomic secondary findings: ACMG members weigh in Genet. Med. 17 2015 27 35
-
(2015)
Genet. Med.
, vol.17
, pp. 27-35
-
-
Scheuner, M.T.1
Peredo, J.2
Benkendorf, J.3
Bowdish, B.4
Feldman, G.5
Fleisher, L.6
Mulvihill, J.J.7
Watson, M.8
Herman, G.E.9
Evans, J.10
-
23
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Y. Yang, D.M. Muzny, F. Xia, Z. Niu, R. Person, Y. Ding, P. Ward, A. Braxton, M. Wang, C. Buhay, and et al. Molecular findings among patients referred for clinical whole-exome sequencing JAMA 312 2014 1870 1879
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
Niu, Z.4
Person, R.5
Ding, Y.6
Ward, P.7
Braxton, A.8
Wang, M.9
Buhay, C.10
-
24
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
S. Richards, N. Aziz, S. Bale, D. Bick, S. Das, J. Gastier-Foster, W.W. Grody, M. Hegde, E. Lyon, E. Spector, et al. ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet. Med. 17 2015 405 424
-
(2015)
Genet. Med.
, vol.17
, pp. 405-424
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
-
25
-
-
85019425355
-
Collaborative science in the next-generation sequencing era: A viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes
-
S.N. Hart, K.N. Maxwell, T. Thomas, V. Ravichandran, B. Wubberhorst, R.J. Klein, K. Schrader, C. Szabo, J.N. Weitzel, S.L. Neuhausen, and et al. Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes Brief. Bioinform. 2015 bbv075
-
(2015)
Brief. Bioinform.
, pp. bbv075
-
-
Hart, S.N.1
Maxwell, K.N.2
Thomas, T.3
Ravichandran, V.4
Wubberhorst, B.5
Klein, R.J.6
Schrader, K.7
Szabo, C.8
Weitzel, J.N.9
Neuhausen, S.L.10
-
26
-
-
84903742530
-
The Biological Reference Repository (BioR): A rapid and flexible system for genomics annotation
-
J.P. Kocher, D.J. Quest, P. Duffy, M.A. Meiners, R.M. Moore, D. Rider, A. Hossain, S.N. Hart, and V. Dinu The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation Bioinformatics 30 2014 1920 1922
-
(2014)
Bioinformatics
, vol.30
, pp. 1920-1922
-
-
Kocher, J.P.1
Quest, D.J.2
Duffy, P.3
Meiners, M.A.4
Moore, R.M.5
Rider, D.6
Hossain, A.7
Hart, S.N.8
Dinu, V.9
-
27
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res. 38 2010 e164
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
28
-
-
84940200842
-
CSN and CAVA: Variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting
-
M. Münz, E. Ruark, A. Renwick, E. Ramsay, M. Clarke, S. Mahamdallie, V. Cloke, S. Seal, A. Strydom, G. Lunter, and N. Rahman CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting Genome Med. 7 2015 76
-
(2015)
Genome Med.
, vol.7
, pp. 76
-
-
Münz, M.1
Ruark, E.2
Renwick, A.3
Ramsay, E.4
Clarke, M.5
Mahamdallie, S.6
Cloke, V.7
Seal, S.8
Strydom, A.9
Lunter, G.10
Rahman, N.11
-
29
-
-
0037903275
-
Human gene mutation database (HGMD): 2003 update
-
P.D. Stenson, E.V. Ball, M. Mort, A.D. Phillips, J.A. Shiel, N.S. Thomas, S. Abeysinghe, M. Krawczak, and D.N. Cooper Human gene mutation database (HGMD): 2003 update Hum. Mutat. 21 2003 577 581
-
(2003)
Hum. Mutat.
, vol.21
, pp. 577-581
-
-
Stenson, P.D.1
Ball, E.V.2
Mort, M.3
Phillips, A.D.4
Shiel, J.A.5
Thomas, N.S.6
Abeysinghe, S.7
Krawczak, M.8
Cooper, D.N.9
-
30
-
-
84891809093
-
ClinVar: Public archive of relationships among sequence variation and human phenotype
-
M.J. Landrum, J.M. Lee, G.R. Riley, W. Jang, W.S. Rubinstein, D.M. Church, and D.R. Maglott ClinVar: public archive of relationships among sequence variation and human phenotype Nucleic Acids Res. 42 2014 D980 D985
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. D980-D985
-
-
Landrum, M.J.1
Lee, J.M.2
Riley, G.R.3
Jang, W.4
Rubinstein, W.S.5
Church, D.M.6
Maglott, D.R.7
-
31
-
-
84881613239
-
DbNSFP v2.0: A database of human non-synonymous SNVs and their functional predictions and annotations
-
X. Liu, X. Jian, and E. Boerwinkle dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations Hum. Mutat. 34 2013 E2393 E2402
-
(2013)
Hum. Mutat.
, vol.34
, pp. E2393-E2402
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
-
32
-
-
84892607343
-
Realizing the promise of cancer predisposition genes
-
N. Rahman Realizing the promise of cancer predisposition genes Nature 505 2014 302 308
-
(2014)
Nature
, vol.505
, pp. 302-308
-
-
Rahman, N.1
-
33
-
-
75149174167
-
Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome
-
Z. Erlic, M.M. Hoffmann, M. Sullivan, G. Franke, M. Peczkowska, I. Harsch, M. Schott, H.E. Gabbert, M. Valimäki, S.F. Preuss, and et al. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome J. Clin. Endocrinol. Metab. 95 2010 308 313
-
(2010)
J. Clin. Endocrinol. Metab.
, vol.95
, pp. 308-313
-
-
Erlic, Z.1
Hoffmann, M.M.2
Sullivan, M.3
Franke, G.4
Peczkowska, M.5
Harsch, I.6
Schott, M.7
Gabbert, H.E.8
Valimäki, M.9
Preuss, S.F.10
-
34
-
-
84923621759
-
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility
-
R.A. Toledo, R. Hatakana, D.M. Lourenço Jr., S.C. Lindsey, C.P. Camacho, M. Almeida, J.V. Lima Jr., T. Sekiya, E. Garralda, M.S. Naslavsky, and et al. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility Endocr. Relat. Cancer 22 2015 65 76
-
(2015)
Endocr. Relat. Cancer
, vol.22
, pp. 65-76
-
-
Toledo, R.A.1
Hatakana, R.2
Lourenço, D.M.3
Lindsey, S.C.4
Camacho, C.P.5
Almeida, M.6
Lima, J.V.7
Sekiya, T.8
Garralda, E.9
Naslavsky, M.S.10
-
35
-
-
16944365288
-
Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
-
S.J. Laken, G.M. Petersen, S.B. Gruber, C. Oddoux, H. Ostrer, F.M. Giardiello, S.R. Hamilton, H. Hampel, A. Markowitz, D. Klimstra, and et al. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC Nat. Genet. 17 1997 79 83
-
(1997)
Nat. Genet.
, vol.17
, pp. 79-83
-
-
Laken, S.J.1
Petersen, G.M.2
Gruber, S.B.3
Oddoux, C.4
Ostrer, H.5
Giardiello, F.M.6
Hamilton, S.R.7
Hampel, H.8
Markowitz, A.9
Klimstra, D.10
-
36
-
-
84864511887
-
Association of a HOXB13 variant with breast cancer
-
S. Alanee, F. Couch, and K. Offit Association of a HOXB13 variant with breast cancer N. Engl. J. Med. 367 2012 480 481
-
(2012)
N. Engl. J. Med.
, vol.367
, pp. 480-481
-
-
Alanee, S.1
Couch, F.2
Offit, K.3
-
37
-
-
82555187007
-
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
-
S. Yokoyama, S.L. Woods, G.M. Boyle, L.G. Aoude, S. MacGregor, V. Zismann, M. Gartside, A.E. Cust, R. Haq, M. Harland, and et al. A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma Nature 480 2011 99 103
-
(2011)
Nature
, vol.480
, pp. 99-103
-
-
Yokoyama, S.1
Woods, S.L.2
Boyle, G.M.3
Aoude, L.G.4
MacGregor, S.5
Zismann, V.6
Gartside, M.7
Cust, A.E.8
Haq, R.9
Harland, M.10
-
38
-
-
84947279527
-
American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility
-
M.E. Robson, A.R. Bradbury, B. Arun, S.M. Domchek, J.M. Ford, H.L. Hampel, S.M. Lipkin, S. Syngal, D.S. Wollins, and N.M. Lindor American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility J. Clin. Oncol. 33 2015 3660 3667
-
(2015)
J. Clin. Oncol.
, vol.33
, pp. 3660-3667
-
-
Robson, M.E.1
Bradbury, A.R.2
Arun, B.3
Domchek, S.M.4
Ford, J.M.5
Hampel, H.L.6
Lipkin, S.M.7
Syngal, S.8
Wollins, D.S.9
Lindor, N.M.10
-
40
-
-
84899476119
-
Guidelines for investigating causality of sequence variants in human disease
-
D.G. MacArthur, T.A. Manolio, D.P. Dimmock, H.L. Rehm, J. Shendure, G.R. Abecasis, D.R. Adams, R.B. Altman, S.E. Antonarakis, E.A. Ashley, and et al. Guidelines for investigating causality of sequence variants in human disease Nature 508 2014 469 476
-
(2014)
Nature
, vol.508
, pp. 469-476
-
-
MacArthur, D.G.1
Manolio, T.A.2
Dimmock, D.P.3
Rehm, H.L.4
Shendure, J.5
Abecasis, G.R.6
Adams, D.R.7
Altman, R.B.8
Antonarakis, S.E.9
Ashley, E.A.10
-
41
-
-
84907853172
-
Clinical whole-exome sequencing: Are we there yet?
-
P.S. Atwal, M.L. Brennan, R. Cox, M. Niaki, J. Platt, M. Homeyer, A. Kwan, S. Parkin, S. Schelley, L. Slattery, and et al. Clinical whole-exome sequencing: are we there yet? Genet. Med. 16 2014 717 719
-
(2014)
Genet. Med.
, vol.16
, pp. 717-719
-
-
Atwal, P.S.1
Brennan, M.L.2
Cox, R.3
Niaki, M.4
Platt, J.5
Homeyer, M.6
Kwan, A.7
Parkin, S.8
Schelley, S.9
Slattery, L.10
-
42
-
-
84939635642
-
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: Results from 500 unselected families with undiagnosed genetic conditions
-
K.D. Farwell, L. Shahmirzadi, D. El-Khechen, Z. Powis, E.C. Chao, B. Tippin Davis, R.M. Baxter, W. Zeng, C. Mroske, M.C. Parra, and et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions Genet. Med. 17 2015 578 586
-
(2015)
Genet. Med.
, vol.17
, pp. 578-586
-
-
Farwell, K.D.1
Shahmirzadi, L.2
El-Khechen, D.3
Powis, Z.4
Chao, E.C.5
Tippin Davis, B.6
Baxter, R.M.7
Zeng, W.8
Mroske, C.9
Parra, M.C.10
-
43
-
-
84918840439
-
Clinical exome sequencing for genetic identification of rare Mendelian disorders
-
H. Lee, J.L. Deignan, N. Dorrani, S.P. Strom, S. Kantarci, F. Quintero-Rivera, K. Das, T. Toy, B. Harry, M. Yourshaw, and et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders JAMA 312 2014 1880 1887
-
(2014)
JAMA
, vol.312
, pp. 1880-1887
-
-
Lee, H.1
Deignan, J.L.2
Dorrani, N.3
Strom, S.P.4
Kantarci, S.5
Quintero-Rivera, F.6
Das, K.7
Toy, T.8
Harry, B.9
Yourshaw, M.10
-
44
-
-
84924767310
-
Practical considerations in the clinical application of whole-exome sequencing
-
V. Shashi, A. McConkie-Rosell, K. Schoch, V. Kasturi, C. Rehder, Y.H. Jiang, D.B. Goldstein, and M.T. McDonald Practical considerations in the clinical application of whole-exome sequencing Clin. Genet. 89 2016 173 181
-
(2016)
Clin. Genet.
, vol.89
, pp. 173-181
-
-
Shashi, V.1
McConkie-Rosell, A.2
Schoch, K.3
Kasturi, V.4
Rehder, C.5
Jiang, Y.H.6
Goldstein, D.B.7
McDonald, M.T.8
-
45
-
-
84958105945
-
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
-
Care4Rare Canada Consortium
-
S.L. Sawyer, T. Hartley, D.A. Dyment, C.L. Beaulieu, J. Schwartzentruber, A. Smith, H.M. Bedford, G. Bernard, F.P. Bernier, B. Brais, et al. FORGE Canada Consortium Care4Rare Canada Consortium Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care Clin. Genet. 89 2016 275 284
-
(2016)
Clin. Genet.
, vol.89
, pp. 275-284
-
-
Sawyer, S.L.1
Hartley, T.2
Dyment, D.A.3
Beaulieu, C.L.4
Schwartzentruber, J.5
Smith, A.6
Bedford, H.M.7
Bernard, G.8
Bernier, F.P.9
Brais, B.10
-
46
-
-
84918793267
-
The usefulness of whole-exome sequencing in routine clinical practice
-
A. Iglesias, K. Anyane-Yeboa, J. Wynn, A. Wilson, M. Truitt Cho, E. Guzman, R. Sisson, C. Egan, and W.K. Chung The usefulness of whole-exome sequencing in routine clinical practice Genet. Med. 16 2014 922 931
-
(2014)
Genet. Med.
, vol.16
, pp. 922-931
-
-
Iglesias, A.1
Anyane-Yeboa, K.2
Wynn, J.3
Wilson, A.4
Truitt Cho, M.5
Guzman, E.6
Sisson, R.7
Egan, C.8
Chung, W.K.9
-
47
-
-
84885295208
-
Actionable, pathogenic incidental findings in 1,000 participants' exomes
-
M.O. Dorschner, L.M. Amendola, E.H. Turner, P.D. Robertson, B.H. Shirts, C.J. Gallego, R.L. Bennett, K.L. Jones, M.J. Tokita, J.T. Bennett, et al. National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project Actionable, pathogenic incidental findings in 1,000 participants' exomes Am. J. Hum. Genet. 93 2013 631 640
-
(2013)
Am. J. Hum. Genet.
, vol.93
, pp. 631-640
-
-
Dorschner, M.O.1
Amendola, L.M.2
Turner, E.H.3
Robertson, P.D.4
Shirts, B.H.5
Gallego, C.J.6
Bennett, R.L.7
Jones, K.L.8
Tokita, M.J.9
Bennett, J.T.10
-
48
-
-
84937547912
-
Secondary findings and carrier test frequencies in a large multiethnic sample
-
T. Gambin, S.N. Jhangiani, J.E. Below, I.M. Campbell, W. Wiszniewski, D.M. Muzny, J. Staples, A.C. Morrison, M.N. Bainbridge, S. Penney, and et al. Secondary findings and carrier test frequencies in a large multiethnic sample Genome Med. 7 2015 54
-
(2015)
Genome Med.
, vol.7
, pp. 54
-
-
Gambin, T.1
Jhangiani, S.N.2
Below, J.E.3
Campbell, I.M.4
Wiszniewski, W.5
Muzny, D.M.6
Staples, J.7
Morrison, A.C.8
Bainbridge, M.N.9
Penney, S.10
-
49
-
-
84939157303
-
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
-
J. Jurgens, H. Ling, K. Hetrick, E. Pugh, F. Schiettecatte, K. Doheny, A. Hamosh, D. Avramopoulos, D. Valle, and N. Sobreira Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics Genet. Med. 17 2015 782 788
-
(2015)
Genet. Med.
, vol.17
, pp. 782-788
-
-
Jurgens, J.1
Ling, H.2
Hetrick, K.3
Pugh, E.4
Schiettecatte, F.5
Doheny, K.6
Hamosh, A.7
Avramopoulos, D.8
Valle, D.9
Sobreira, N.10
-
50
-
-
84923872701
-
Actionable exomic incidental findings in 6503 participants: Challenges of variant classification
-
L.M. Amendola, M.O. Dorschner, P.D. Robertson, J.S. Salama, R. Hart, B.H. Shirts, M.L. Murray, M.J. Tokita, C.J. Gallego, D.S. Kim, and et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification Genome Res. 25 2015 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
-
51
-
-
84863986933
-
Secondary variants in individuals undergoing exome sequencing: Screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes
-
J.J. Johnston, W.S. Rubinstein, F.M. Facio, D. Ng, L.N. Singh, J.K. Teer, J.C. Mullikin, and L.G. Biesecker Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes Am. J. Hum. Genet. 91 2012 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
-
52
-
-
84884506830
-
Interpreting secondary cardiac disease variants in an exome cohort
-
D. Ng, J.J. Johnston, J.K. Teer, L.N. Singh, L.C. Peller, J.S. Wynter, K.L. Lewis, D.N. Cooper, P.D. Stenson, J.C. Mullikin, L.G. Biesecker NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program Interpreting secondary cardiac disease variants in an exome cohort Circ Cardiovasc Genet 6 2013 337 346
-
(2013)
Circ Cardiovasc Genet
, vol.6
, pp. 337-346
-
-
Ng, D.1
Johnston, J.J.2
Teer, J.K.3
Singh, L.N.4
Peller, L.C.5
Wynter, J.S.6
Lewis, K.L.7
Cooper, D.N.8
Stenson, P.D.9
Mullikin, J.C.10
Biesecker, L.G.11
-
53
-
-
84905822972
-
Multigene panel testing: Planning the next generation of research studies in clinical cancer genetics
-
M. Robson Multigene panel testing: planning the next generation of research studies in clinical cancer genetics J. Clin. Oncol. 32 2014 1987 1989
-
(2014)
J. Clin. Oncol.
, vol.32
, pp. 1987-1989
-
-
Robson, M.1
|