-
1
-
-
84873096362
-
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas
-
Palles C, Cazier JB, Howarth KM, et al: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet 45: 136-144, 2013.
-
(2013)
Nat Genet
, vol.45
, pp. 136-144
-
-
Palles, C.1
Cazier, J.B.2
Howarth, K.M.3
-
2
-
-
33645836699
-
Novel findings in Swedish patients with MYH-associated polyposis: Mutation detection and clinical characterization
-
Kanter-Smoler G, Bjork J, Fritzell K, et al: Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization. Clin Gastroenterol Hepatol 4: 499-506, 2006.
-
(2006)
Clin Gastroenterol Hepatol
, vol.4
, pp. 499-506
-
-
Kanter-Smoler, G.1
Bjork, J.2
Fritzell, K.3
-
3
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H and Durbin R: Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760, 2009.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
4
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, et al: The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079, 2009.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
5
-
-
77956295988
-
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, et al: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303, 2010.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
-
6
-
-
77956534324
-
ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data
-
Wang K, Li M and Hakonarson H: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38: e164, 2010.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
8
-
-
79960763462
-
dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
-
Liu X, Jian X and Boerwinkle E: dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions. Hum Mutat 32: 894-899, 2011.
-
(2011)
Hum Mutat
, vol.32
, pp. 894-899
-
-
Liu, X.1
Jian, X.2
Boerwinkle, E.3
-
9
-
-
84858983547
-
KEGG for integration and interpretation of large-scale molecular data sets
-
Kanehisa M, Goto S, Sato Y, Furumichi M and Tanabe M: KEGG for integration and interpretation of large-scale molecular data sets. Nucleic Acids Res 40: 10, 2012.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 10
-
-
Kanehisa, M.1
Goto, S.2
Sato, Y.3
Furumichi, M.4
Tanabe, M.5
-
10
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
The Gene Ontology Consortium
-
Ashburner M, Ball CA, Blake JA, et al: Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet 25: 25-29, 2000.
-
(2000)
Nat Genet
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
-
11
-
-
33846094306
-
An enhanced MITOMAP with a global mtDNA mutational phylogeny
-
Ruiz-Pesini E, Lott MT, Procaccio V, et al: An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 35: 18, 2007.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 18
-
-
Ruiz-Pesini, E.1
Lott, M.T.2
Procaccio, V.3
-
13
-
-
0026019625
-
Structural basis for the 3′-5′ exonuclease activity of Escherichia coli DNA polymerase I: A two metal ion mechanism
-
Beese LS and Steitz TA: Structural basis for the 3′-5′ exonuclease activity of Escherichia coli DNA polymerase I: a two metal ion mechanism. EMBO J 10: 25-33, 1991.
-
(1991)
EMBO J
, vol.10
, pp. 25-33
-
-
Beese, L.S.1
Steitz, T.A.2
-
14
-
-
0035979380
-
3′-5′ Exonucleolytic activity of DNA polymerases: Structural features that allow kinetic discrimination between ribo- and deoxyribonucleotide residues
-
Lin TC, Wang CX, Joyce CM and Konigsberg WH: 3′-5′ Exonucleolytic activity of DNA polymerases: structural features that allow kinetic discrimination between ribo- and deoxyribonucleotide residues. Biochemistry 40: 8749-8755, 2001.
-
(2001)
Biochemistry
, vol.40
, pp. 8749-8755
-
-
Lin, T.C.1
Wang, C.X.2
Joyce, C.M.3
Konigsberg, W.H.4
-
15
-
-
0035876715
-
Long and accurate PCR with a mixture of KOD DNA polymerase and its exonuclease deficient mutant enzyme
-
Nishioka M, Mizuguchi H, Fujiwara S, et al: Long and accurate PCR with a mixture of KOD DNA polymerase and its exonuclease deficient mutant enzyme. J Biotechnol 88: 141-149, 2001.
-
(2001)
J Biotechnol
, vol.88
, pp. 141-149
-
-
Nishioka, M.1
Mizuguchi, H.2
Fujiwara, S.3
-
16
-
-
33745812019
-
A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae
-
Murphy K, Darmawan H, Schultz A, Fidalgo da Silva E and Reha-Krantz LJ: A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae. Genome 49: 403-410, 2006.
-
(2006)
Genome
, vol.49
, pp. 403-410
-
-
Murphy, K.1
Darmawan, H.2
Schultz, A.3
Fidalgo Da Silva, E.4
Reha-Krantz, L.J.5
-
17
-
-
0001653511
-
Functional consequences and exonuclease kinetic parameters of point mutations in bacteriophage T4 DNA polymerase
-
Abdus Sattar AK, Lin TC, Jones C and Konigsberg WH: Functional consequences and exonuclease kinetic parameters of point mutations in bacteriophage T4 DNA polymerase. Biochemistry 35: 16621-16629, 1996.
-
(1996)
Biochemistry
, vol.35
, pp. 16621-16629
-
-
Abdus Sattar, A.K.1
Lin, T.C.2
Jones, C.3
Konigsberg, W.H.4
-
18
-
-
0033559182
-
Detection of mutations in the DNA polymerase delta gene of human sporadic colorectal cancers and colon cancer cell lines
-
Flohr T, Dai JC, Buttner J, Popanda O, Hagmuller E and Thielmann HW: Detection of mutations in the DNA polymerase delta gene of human sporadic colorectal cancers and colon cancer cell lines. Int J Cancer 80: 919-929, 1999.
-
(1999)
Int J Cancer
, vol.80
, pp. 919-929
-
-
Flohr, T.1
Dai, J.C.2
Buttner, J.3
Popanda, O.4
Hagmuller, E.5
Thielmann, H.W.6
-
19
-
-
0028859670
-
Polymerase delta variants in RER colorectal tumours
-
Da Costa LT, Liu B, el-Deiry W, et al: Polymerase delta variants in RER colorectal tumours. Nat Genet 9: 10-11, 1995.
-
(1995)
Nat Genet
, vol.9
, pp. 10-11
-
-
Da Costa, L.T.1
Liu, B.2
El-Deiry, W.3
-
20
-
-
79951811449
-
Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer
-
Yoshida R, Miyashita K, Inoue M, et al: Concurrent genetic alterations in DNA polymerase proofreading and mismatch repair in human colorectal cancer. Eur J Hum Genet 19: 320-325, 2011.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 320-325
-
-
Yoshida, R.1
Miyashita, K.2
Inoue, M.3
-
21
-
-
84863922124
-
Comprehensive molecular characterization of human colon and rectal cancer
-
Cancer Genome Atlas Network
-
Cancer Genome Atlas Network: Comprehensive molecular characterization of human colon and rectal cancer. Nature 487: 330-337, 2012.
-
(2012)
Nature
, vol.487
, pp. 330-337
-
-
-
22
-
-
0021761622
-
'Cancer family syndrome' - Description of a family with a hereditary incidence of malignant tumors of the colon and other organs
-
In Swedish
-
Hasselgren PO, Hulten L and Karlstrom L: 'Cancer family syndrome' - description of a family with a hereditary incidence of malignant tumors of the colon and other organs. Lakartidningen 81: 2451-2453, 1984 (In Swedish).
-
(1984)
Lakartidningen
, vol.81
, pp. 2451-2453
-
-
Hasselgren, P.O.1
Hulten, L.2
Karlstrom, L.3
-
23
-
-
0024582591
-
Familial occurrence of cancer and heteromorphism of the heterochromatic segment of chromosome 1
-
Kopf I, Islam MQ, Friberg LG and Levan G: Familial occurrence of cancer and heteromorphism of the heterochromatic segment of chromosome 1. Hereditas 110: 79-83, 1989.
-
(1989)
Hereditas
, vol.110
, pp. 79-83
-
-
Kopf, I.1
Islam, M.Q.2
Friberg, L.G.3
Levan, G.4
|