-
1
-
-
55549147191
-
Personal genomes: The case of the missing heritability
-
189877
-
Maher B, Personal genomes: The case of the missing heritability. Nature. 2008;456: 18–21. doi: 10.1038/456018a 18987709
-
(2008)
Nature
, vol.456
, pp. 18-21
-
-
Maher, B.1
-
2
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
198126
-
Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461: 747–53. doi: 10.1038/nature08494 19812666
-
(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
-
3
-
-
77952557918
-
Missing heritability and strategies for finding the underlying causes of complex disease
-
204797
-
Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet. 2010;11: 446–50. doi: 10.1038/nrg2809 20479774
-
(2010)
Nat Rev Genet
, vol.11
, pp. 446-450
-
-
Eichler, E.E.1
Flint, J.2
Gibson, G.3
Kong, A.4
Leal, S.M.5
Moore, J.H.6
-
4
-
-
0028113345
-
A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1
-
7545954,..;: –. Availabl
-
Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266: 66–71. Available: http://www.ncbi.nlm.nih.gov/pubmed/7545954 7545954
-
(1994)
Science
, vol.266
, pp. 66-71
-
-
Miki, Y.1
Swensen, J.2
Shattuck-Eidens, D.3
Futreal, P.A.4
Harshman, K.5
Tavtigian, S.6
-
5
-
-
0028006563
-
Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13
-
8091231,..;: –. Availabl
-
Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994;265: 2088–90. Available: http://www.ncbi.nlm.nih.gov/pubmed/8091231 8091231
-
(1994)
Science
, vol.265
, pp. 2088-2090
-
-
Wooster, R.1
Neuhausen, S.L.2
Mangion, J.3
Quirk, Y.4
Ford, D.5
Collins, N.6
-
6
-
-
0024502528
-
Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I
-
2491777,..;: –. Availabl
-
Vance JM, Pericak-Vance MA, Yamaoka LH, Speer MC, Rosenwasser GO, Small K, et al. Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. Am J Hum Genet. 1989;44: 25–9. Available: http://www.ncbi.nlm.nih.gov/pubmed/2491777 2491777
-
(1989)
Am J Hum Genet
, vol.44
, pp. 25-29
-
-
Vance, J.M.1
Pericak-Vance, M.A.2
Yamaoka, L.H.3
Speer, M.C.4
Rosenwasser, G.O.5
Small, K.6
-
7
-
-
0026471719
-
Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22
-
1439824,..;: –. Availabl
-
Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, et al. Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science. 1992;258: 1148–52. Available: http://www.ncbi.nlm.nih.gov/pubmed/1439824 1439824
-
(1992)
Science
, vol.258
, pp. 1148-1152
-
-
Cannon-Albright, L.A.1
Goldgar, D.E.2
Meyer, L.J.3
Lewis, C.M.4
Anderson, D.E.5
Fountain, J.W.6
-
8
-
-
0023572211
-
The gene for familial polyposis coli maps to the long arm of chromosome 5
-
3479843,..;: –. Availabl
-
Leppert M, Dobbs M, Scambler P, O’Connell P, Nakamura Y, Stauffer D, et al. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science. 1987;238: 1411–3. Available: http://www.ncbi.nlm.nih.gov/pubmed/3479843 3479843
-
(1987)
Science
, vol.238
, pp. 1411-1413
-
-
Leppert, M.1
Dobbs, M.2
Scambler, P.3
O’Connell, P.4
Nakamura, Y.5
Stauffer, D.6
-
9
-
-
0025899162
-
Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients
-
1651563,..;: –. Availabl
-
Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991;253: 665–9. Available: http://www.ncbi.nlm.nih.gov/pubmed/1651563 1651563
-
(1991)
Science
, vol.253
, pp. 665-669
-
-
Nishisho, I.1
Nakamura, Y.2
Miyoshi, Y.3
Miki, Y.4
Ando, H.5
Horii, A.6
-
10
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
199155
-
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet. 2010;42: 30–5. doi: 10.1038/ng.499 19915526
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
Dent, K.M.6
-
11
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
207111
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42: 790–3. doi: 10.1038/ng.646 20711175
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
-
12
-
-
77951702343
-
Genetic Heterogeneity in Human Disease
-
204033
-
McClellan J, King M-C, Genetic Heterogeneity in Human Disease. Cell. 2010;141: 210–217. doi: 10.1016/j.cell.2010.03.032 20403315
-
(2010)
Cell
, vol.141
, pp. 210-217
-
-
McClellan, J.1
King, M.-C.2
-
13
-
-
84855510023
-
What is complex about complex disorders?
-
222693
-
Mitchell KJ, What is complex about complex disorders?Genome Biol. 2012;13: 237. doi: 10.1186/gb-2012-13-1-237 22269335
-
(2012)
Genome Biol
, vol.13
, pp. 237
-
-
Mitchell, K.J.1
-
14
-
-
84883495371
-
Detection and Impact of Rare Regulatory Variants in Human Disease
-
237550
-
Li X, Montgomery SB, Detection and Impact of Rare Regulatory Variants in Human Disease. Front Genet. 2013;4. doi: 10.3389/fgene.2013.00067 23755067
-
(2013)
Front Genet
, vol.4
-
-
Li, X.1
Montgomery, S.B.2
-
15
-
-
84925089678
-
The role of regulatory variation in complex traits and disease
-
257079
-
Albert FW, Kruglyak L, The role of regulatory variation in complex traits and disease. Nat Rev Genet. 2015;16: 197–212. doi: 10.1038/nrg3891 25707927
-
(2015)
Nat Rev Genet
, vol.16
, pp. 197-212
-
-
Albert, F.W.1
Kruglyak, L.2
-
16
-
-
84867431413
-
Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants
-
229890
-
Knight S, Abo RP, Abel HJ, Neklason DW, Tuohy TM, Burt RW, et al. Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants. Ann Hum Genet. 2012;76: 500–509. doi: 10.1111/j.1469-1809.2012.00728.x 22989048
-
(2012)
Ann Hum Genet
, vol.76
, pp. 500-509
-
-
Knight, S.1
Abo, R.P.2
Abel, H.J.3
Neklason, D.W.4
Tuohy, T.M.5
Burt, R.W.6
-
17
-
-
85043302935
-
-
Myeloma—SEER Stat Fact Sheets [Internet]. Availabl
-
Myeloma—SEER Stat Fact Sheets [Internet]. Available: https://seer.cancer.gov/statfacts/html/mulmy.html
-
-
-
-
19
-
-
33646455008
-
Familial characteristics of autoimmune and hematologic disorders in 8,406 multiple myeloma patients: A population-based case-control study
-
163957
-
Landgren O, Linet MS, McMaster ML, Gridley G, Hemminki K, Goldin LR, Familial characteristics of autoimmune and hematologic disorders in 8,406 multiple myeloma patients: A population-based case-control study. Int J Cancer. 2006;118: 3095–3098. doi: 10.1002/ijc.21745 16395700
-
(2006)
Int J Cancer
, vol.118
, pp. 3095-3098
-
-
Landgren, O.1
Linet, M.S.2
McMaster, M.L.3
Gridley, G.4
Hemminki, K.5
Goldin, L.R.6
-
20
-
-
84859165567
-
Significant evidence for a heritable contribution to cancer predisposition: a review of cancer familiality by site
-
224712
-
Albright F, Teerlink C, Werner TL, Cannon-Albright LA, Significant evidence for a heritable contribution to cancer predisposition: a review of cancer familiality by site. BMC Cancer. BioMed Central Ltd; 2012;12: 138. doi: 10.1186/1471-2407-12-138 22471249
-
(2012)
BMC Cancer. BioMed Central Ltd
, vol.12
-
-
Albright, F.1
Teerlink, C.2
Werner, T.L.3
Cannon-Albright, L.A.4
-
21
-
-
84988515957
-
Multiple myeloma and family history of lymphohaematopoietic cancers: Results from the International Multiple Myeloma Consortium
-
27330041,.. Engla
-
Schinasi LH, Brown EE, Camp NJ, Wang SS, Hofmann JN, Chiu BC, et al. Multiple myeloma and family history of lymphohaematopoietic cancers: Results from the International Multiple Myeloma Consortium. Br J Haematol. England; 2016;175: 87–101. doi: 10.1111/bjh.14199 27330041
-
(2016)
Br J Haematol
, vol.175
, pp. 87-101
-
-
Schinasi, L.H.1
Brown, E.E.2
Camp, N.J.3
Wang, S.S.4
Hofmann, J.N.5
Chiu, B.C.6
-
22
-
-
68249141862
-
Risk of plasma cell and lymphoproliferative disorders among 14621 first-degree relatives of 4458 patients with monoclonal gammopathy of undetermined significance in Sweden
-
191822
-
Landgren O, Kristinsson SY, Goldin LR, Caporaso NE, Blimark C, Mellqvist U-H, et al. Risk of plasma cell and lymphoproliferative disorders among 14621 first-degree relatives of 4458 patients with monoclonal gammopathy of undetermined significance in Sweden. Blood. 2009;114: 791–5. doi: 10.1182/blood-2008-12-191676 19182202
-
(2009)
Blood
, vol.114
, pp. 791-795
-
-
Landgren, O.1
Kristinsson, S.Y.2
Goldin, L.R.3
Caporaso, N.E.4
Blimark, C.5
Mellqvist, U.-H.6
-
23
-
-
84862526485
-
Familial monoclonal gammopathy of undetermined significance and multiple myeloma: epidemiology, risk factors, and biological characteristics
-
223540
-
Greenberg AJ, Rajkumar SV, Vachon CM, Familial monoclonal gammopathy of undetermined significance and multiple myeloma: epidemiology, risk factors, and biological characteristics. Blood. 2012;119: 5359–66. doi: 10.1182/blood-2011-11-387324 22354002
-
(2012)
Blood
, vol.119
, pp. 5359-5366
-
-
Greenberg, A.J.1
Rajkumar, S.V.2
Vachon, C.M.3
-
24
-
-
84862797949
-
Increased prevalence of light chain monoclonal gammopathy of undetermined significance (LC-MGUS) in first-degree relatives of individuals with multiple myeloma
-
22629552,..;: –. Availabl
-
Greenberg AJ, Rajkumar SV, Larson DR, Dispenzieri A, Therneau TM, Colby CL, et al. Increased prevalence of light chain monoclonal gammopathy of undetermined significance (LC-MGUS) in first-degree relatives of individuals with multiple myeloma. Br J Haematol. 2012;157: 472–5. Available: http://www.ncbi.nlm.nih.gov/pubmed/22629552 22629552
-
(2012)
Br J Haematol
, vol.157
, pp. 472-475
-
-
Greenberg, A.J.1
Rajkumar, S.V.2
Larson, D.R.3
Dispenzieri, A.4
Therneau, T.M.5
Colby, C.L.6
-
25
-
-
68249146525
-
Increased risk of monoclonal gammopathy in first-degree relatives of patients with multiple myeloma or monoclonal gammopathy of undetermined significance
-
191794
-
Vachon CM, Kyle RA, Therneau TM, Foreman BJ, Larson DR, Colby CL, et al. Increased risk of monoclonal gammopathy in first-degree relatives of patients with multiple myeloma or monoclonal gammopathy of undetermined significance. Blood. 2009;114: 785–90. doi: 10.1182/blood-2008-12-192575 19179466
-
(2009)
Blood
, vol.114
, pp. 785-790
-
-
Vachon, C.M.1
Kyle, R.A.2
Therneau, T.M.3
Foreman, B.J.4
Larson, D.R.5
Colby, C.L.6
-
26
-
-
38949189981
-
Shared Genomic Segment Analysis. Mapping Disease Predisposition Genes in Extended Pedigrees Using SNP Genotype Assays
-
18093282
-
Thomas A, Camp NJ, Farnham JM, Allen-Brady K, Cannon-Albright LA, Shared Genomic Segment Analysis. Mapping Disease Predisposition Genes in Extended Pedigrees Using SNP Genotype Assays. Ann Hum Genet. 2008;72: 279–287. 10.1111/j.1469-1809.2007.00406.x doi: 10.1111/j.1469-1809.2007.00406.x 18093282
-
(2008)
Ann Hum Genet
, vol.72
, pp. 279-287
-
-
Thomas, A.1
Camp, N.J.2
Farnham, J.M.3
Allen-Brady, K.4
Cannon-Albright, L.A.5
-
27
-
-
0028877463
-
Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
-
Lander E, Kruglyak L, Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11: 141–147.
-
(1995)
Nat Genet
, vol.11
, pp. 141-147
-
-
Lander, E.1
Kruglyak, L.2
-
28
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
275355
-
Lek M, Karczewski KJ, Minikel E V, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. Nature Research; 2016;536: 285–291. doi: 10.1038/nature19057 27535533
-
(2016)
Nature. Nature Research
, vol.536
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
-
29
-
-
85043305958
-
-
Myeloma data downloaded from the dbGaP web site under accessions: phs000348.v2.p1 and phs000748.v4.p3. [Intern
-
Myeloma data downloaded from the dbGaP web site under accessions: phs000348.v2.p1 and phs000748.v4.p3. [Internet].
-
-
-
-
30
-
-
85043310015
-
-
Control data downloaded from the dbGaP web site under accessions: phs000209.v13.p3, phs000276.v2.p1, phs000179.v5.p2, phs000298.v3.p2, phs000424.v6.p1, phs000653.v2.p1, phs000687.v1.p1, phs000814.v1.p1, and phs000806.v1.p
-
Control data downloaded from the dbGaP web site under accessions: phs000209.v13.p3, phs000276.v2.p1, phs000179.v5.p2, phs000298.v3.p2, phs000424.v6.p1, phs000653.v2.p1, phs000687.v1.p1, phs000814.v1.p1, and phs000806.v1.p1.
-
-
-
-
31
-
-
84922272627
-
USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses
-
255382
-
Perez-Oliva AB, Lachaud C, Szyniarowski P, Muñoz I, Macartney T, Hickson I, et al. USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses. EMBO J. 2015;34: 326–43. doi: 10.15252/embj.201489184 25538220
-
(2015)
EMBO J
, vol.34
, pp. 326-343
-
-
Perez-Oliva, A.B.1
Lachaud, C.2
Szyniarowski, P.3
Muñoz, I.4
Macartney, T.5
Hickson, I.6
-
32
-
-
85043334963
-
-
USP45 in the GG-NER Incision Complex [Internet]. Availabl
-
USP45 in the GG-NER Incision Complex [Internet]. Available: http://www.reactome.org/PathwayBrowser/#/R-HSA-5696398&SEL=R-HSA-5696465&PATH=R-HSA-73894
-
-
-
-
33
-
-
84904642416
-
Understanding nucleotide excision repair and its roles in cancer and ageing
-
249542
-
Marteijn JA, Lans H, Vermeulen W, Hoeijmakers JHJ, Understanding nucleotide excision repair and its roles in cancer and ageing. Nat Rev Mol Cell Biol. 2014;15: 465–81. doi: 10.1038/nrm3822 24954209
-
(2014)
Nat Rev Mol Cell Biol
, vol.15
, pp. 465-481
-
-
Marteijn, J.A.1
Lans, H.2
Vermeulen, W.3
Hoeijmakers, J.H.J.4
-
34
-
-
77958535871
-
Multiple roles of the ERCC1-XPF endonuclease in DNA repair and resistance to anticancer drugs
-
20944091,.;: –. 30/9/3223 [pi
-
Kirschner K, Melton DW, Multiple roles of the ERCC1-XPF endonuclease in DNA repair and resistance to anticancer drugs. Anticancer Res. 2010;30: 3223–3232. 30/9/3223 [pii] 20944091
-
(2010)
Anticancer Res
, vol.30
, pp. 3223-3232
-
-
Kirschner, K.1
Melton, D.W.2
-
35
-
-
0035495386
-
How nucleotide excision repair protects against cancer
-
119002
-
Friedberg EC, How nucleotide excision repair protects against cancer. Nat Rev Cancer. 2001;1: 22–33. doi: 10.1038/35094000 11900249
-
(2001)
Nat Rev Cancer
, vol.1
, pp. 22-33
-
-
Friedberg, E.C.1
-
36
-
-
0242331221
-
Mechanisms of human DNA repair: an update
-
14599765,.;: –. Availabl
-
Christmann M, Tomicic MT, Roos WP, Kaina B, Mechanisms of human DNA repair: an update. Toxicology. 2003;193: 3–34. Available: http://www.ncbi.nlm.nih.gov/pubmed/14599765 14599765
-
(2003)
Toxicology
, vol.193
, pp. 3-34
-
-
Christmann, M.1
Tomicic, M.T.2
Roos, W.P.3
Kaina, B.4
-
37
-
-
85043314205
-
-
SWI/SNF Chromatin Remodeling Complex [Internet]. Availabl
-
SWI/SNF Chromatin Remodeling Complex [Internet]. Available: http://www.reactome.org/PathwayBrowser/#/R-HSA-5696398&PATH=R-HSA-73894
-
-
-
-
39
-
-
84901635855
-
The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases
-
23752187,. Nature Publishing Gro
-
Romero O a, Sanchez-Cespedes M,.The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases. Oncogene. Nature Publishing Group; 2014;33: 2681–9. doi: 10.1038/onc.2013.227 23752187
-
(2014)
Oncogene
, vol.33
, pp. 2681-2689
-
-
Romero, O.1
Sanchez-Cespedes, M.2
-
40
-
-
1042290351
-
The SWI/SNF complex—chromatin and cancer
-
14964309,. Nature Publishing Group;;: –. Availabl
-
Roberts CWM, Orkin SH, The SWI/SNF complex—chromatin and cancer. Nat Rev Cancer. Nature Publishing Group; 2004;4: 133–142. Available: http://dx.doi.org/10.1038/nrc1273 14964309
-
(2004)
Nat Rev Cancer
, vol.4
, pp. 133-142
-
-
Roberts, C.W.M.1
Orkin, S.H.2
-
41
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
27535533,.. Nature Resear
-
Lek M, Karczewski KJ, Minikel E V., Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. Nature Research; 2016; 536: 285–291. doi: 10.1038/nature19057 27535533
-
(2016)
Nature
, vol.536
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
Samocha, K.E.4
Banks, E.5
Fennell, T.6
-
42
-
-
79956319716
-
Identification of regions of positive selection using Shared Genomic Segment analysis
-
21304558,. Nature Publishing Gro
-
Cai Z, Camp NJ, Cannon-Albright L, Thomas A, Identification of regions of positive selection using Shared Genomic Segment analysis. Eur J Hum Genet. Nature Publishing Group; 2011;19: 667–671. doi: 10.1038/ejhg.2010.257 21304558
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 667-671
-
-
Cai, Z.1
Camp, N.J.2
Cannon-Albright, L.3
Thomas, A.4
-
43
-
-
84895802141
-
Inherited genetic susceptibility to multiple myeloma
-
242476
-
Morgan GJ, Johnson DC, Weinhold N, Goldschmidt H, Landgren O, Lynch HT, et al. Inherited genetic susceptibility to multiple myeloma. Leukemia. 2014;28: 518–24. doi: 10.1038/leu.2013.344 24247655
-
(2014)
Leukemia
, vol.28
, pp. 518-524
-
-
Morgan, G.J.1
Johnson, D.C.2
Weinhold, N.3
Goldschmidt, H.4
Landgren, O.5
Lynch, H.T.6
-
44
-
-
84655166569
-
Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk
-
22120009,.. Nature Publishing Gro
-
Broderick P, Chubb D, Johnson DC, Weinhold N, Försti A, Lloyd A, et al. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat Genet. Nature Publishing Group; 2011;44: 58–61. doi: 10.1038/ng.993.Common 22120009
-
(2011)
Nat Genet
, vol.44
, pp. 58-61
-
-
Broderick, P.1
Chubb, D.2
Johnson, D.C.3
Weinhold, N.4
Försti, A.5
Lloyd, A.6
-
45
-
-
84885022887
-
Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk
-
23955597,.. Nature Publishing Gro
-
Chubb D, Weinhold N, Broderick P, Chen B, Johnson DC, Försti A, et al. Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. Nat Genet. Nature Publishing Group; 2013;45: 1221–1225. doi: 10.1038/ng.2733 23955597
-
(2013)
Nat Genet
, vol.45
, pp. 1221-1225
-
-
Chubb, D.1
Weinhold, N.2
Broderick, P.3
Chen, B.4
Johnson, D.C.5
Försti, A.6
-
46
-
-
84878596524
-
The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma
-
235027
-
Weinhold N, Johnson DC, Chubb D, Chen B, Försti A, Hosking FJ, et al. The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nat Genet. 2013;45: 522–5. doi: 10.1038/ng.2583 23502783
-
(2013)
Nat Genet
, vol.45
, pp. 522-525
-
-
Weinhold, N.1
Johnson, D.C.2
Chubb, D.3
Chen, B.4
Försti, A.5
Hosking, F.J.6
-
47
-
-
84930226491
-
Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma
-
260076
-
Swaminathan B, Thorleifsson G, Jöud M, Ali M, Johnsson E, Ajore R, et al. Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. Nat Commun. 2015;6: 7213. doi: 10.1038/ncomms8213 26007630
-
(2015)
Nat Commun
, vol.6
, pp. 7213
-
-
Swaminathan, B.1
Thorleifsson, G.2
Jöud, M.3
Ali, M.4
Johnsson, E.5
Ajore, R.6
-
48
-
-
84977123396
-
Genome-wide association study identifies multiple susceptibility loci for multiple myeloma
-
273636
-
Mitchell JS, Li N, Weinhold N, Försti A, Ali M, Duin M Van, et al. Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. Nat Commun. 2016;7: 12050. doi: 10.1038/ncomms12050 27363682
-
(2016)
Nat Commun
, vol.7
, pp. 12050
-
-
Mitchell, J.S.1
Li, N.2
Weinhold, N.3
Försti, A.4
Ali, M.5
-
49
-
-
0034461148
-
A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex
-
11073988,..;: –. Availabl
-
Nie Z, Xue Y, Yang D, Zhou S, Deroo BJ, Archer TK, et al. A specificity and targeting subunit of a human SWI/SNF family-related chromatin-remodeling complex. Mol Cell Biol. 2000;20: 8879–88. Available: http://www.ncbi.nlm.nih.gov/pubmed/11073988 11073988
-
(2000)
Mol Cell Biol
, vol.20
, pp. 8879-8888
-
-
Nie, Z.1
Xue, Y.2
Yang, D.3
Zhou, S.4
Deroo, B.J.5
Archer, T.K.6
-
50
-
-
77957731999
-
Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma
-
208267
-
Jones S, Wang T-L, Shih I-M, Mao T-L, Nakayama K, Roden R, et al. Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. Science. 2010;330: 228–31. doi: 10.1126/science.1196333 20826764
-
(2010)
Science
, vol.330
, pp. 228-231
-
-
Jones, S.1
Wang, T.-L.2
Shih, I.-M.3
Mao, T.-L.4
Nakayama, K.5
Roden, R.6
-
52
-
-
84945248976
-
Non-coding recurrent mutations in chronic lymphocytic leukaemia
-
262003
-
Puente XS, Beà S, Valdés-Mas R, Villamor N, Gutiérrez-Abril J, Martín-Subero JI, et al. Non-coding recurrent mutations in chronic lymphocytic leukaemia. Nature. 2015;526: 519–524. doi: 10.1038/nature14666 26200345
-
(2015)
Nature
, vol.526
, pp. 519-524
-
-
Puente, X.S.1
Beà, S.2
Valdés-Mas, R.3
Villamor, N.4
Gutiérrez-Abril, J.5
Martín-Subero, J.I.6
-
53
-
-
84989316716
-
Mutation of chromatin modifiers; an emerging hallmark of germinal center B-cell lymphomas
-
264735
-
Lunning MA, Green MR, Mutation of chromatin modifiers; an emerging hallmark of germinal center B-cell lymphomas. Blood Cancer J. 2015;5: e361. doi: 10.1038/bcj.2015.89 26473533
-
(2015)
Blood Cancer J
, vol.5
, pp. e361
-
-
Lunning, M.A.1
Green, M.R.2
-
54
-
-
85043343209
-
Genomic landscape of cutaneous T cell lymphoma
-
Choi J, Goh G, Walradt T, Hong BS, Bunick CG, Chen K, et al. Genomic landscape of cutaneous T cell lymphoma. Nat Genet. 2015;47: 1–11. doi: 10.1038/ng.3188
-
(2015)
Nat Genet
, vol.47
, pp. 1-11
-
-
Choi, J.1
Goh, G.2
Walradt, T.3
Hong, B.S.4
Bunick, C.G.5
Chen, K.6
-
55
-
-
34548292504
-
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
-
177019
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D, et al. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses. Am J Hum Genet. 2007;81: 559–575. doi: 10.1086/519795 17701901
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
-
56
-
-
84943171338
-
A global reference for human genetic variation
-
264322
-
1000 Genomes Project ConsortiumAuton A, Brooks LD, Durbin RM, Garrison EP, Kang HM, et al. A global reference for human genetic variation. Nature. 2015;526: 68–74. doi: 10.1038/nature15393 26432245
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
Durbin, R.M.3
Garrison, E.P.4
Kang, H.M.5
-
57
-
-
79951470778
-
Accuracy and Computational Efficiency of a Graphical Modeling Approach to Linkage Disequilibrium Estimation
-
212914
-
Abel HJ, Thomas A, Accuracy and Computational Efficiency of a Graphical Modeling Approach to Linkage Disequilibrium Estimation. Stat Appl Genet Mol Biol. 2011;10. doi: 10.2202/1544-6115.1615 21291415
-
(2011)
Stat Appl Genet Mol Biol
, vol.10
-
-
Abel, H.J.1
Thomas, A.2
-
58
-
-
38849084666
-
A second-generation combined linkage physical map of the human genome
-
179892
-
Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, et al. A second-generation combined linkage physical map of the human genome. Genome Res. 2007;17: 1783–6. doi: 10.1101/gr.7156307 17989245
-
(2007)
Genome Res
, vol.17
, pp. 1783-1786
-
-
Matise, T.C.1
Chen, F.2
Chen, W.3
De La Vega, F.M.4
Hansen, M.5
He, C.6
-
60
-
-
84900476010
-
Analytical validation of whole exome and whole genome sequencing for clinical applications
-
247583
-
Linderman MD, Brandt T, Edelmann L, Jabado O, Kasai Y, Kornreich R, et al. Analytical validation of whole exome and whole genome sequencing for clinical applications. BMC Med Genomics. 2014;7: 20. doi: 10.1186/1755-8794-7-20 24758382
-
(2014)
BMC Med Genomics
, vol.7
, pp. 20
-
-
Linderman, M.D.1
Brandt, T.2
Edelmann, L.3
Jabado, O.4
Kasai, Y.5
Kornreich, R.6
-
61
-
-
84880800567
-
GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
-
238741
-
Paila U, Chapman BA, Kirchner R, Quinlan AR, Gardner PP, GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations. PLoS Comput Biol. 2013;9: e1003153. doi: 10.1371/journal.pcbi.1003153 23874191
-
(2013)
PLoS Comput Biol
, vol.9
, pp. e1003153
-
-
Paila, U.1
Chapman, B.A.2
Kirchner, R.3
Quinlan, A.R.4
Gardner, P.P.5
-
62
-
-
79953752624
-
Testing for an unusual distribution of rare variants
-
214082
-
Neale BM, Rivas MA, Voight BF, Altshuler D, Devlin B, Orho-Melander M, et al. Testing for an unusual distribution of rare variants. PLoS Genet. 2011;7. doi: 10.1371/journal.pgen.1001322 21408211
-
(2011)
PLoS Genet
, vol.7
-
-
Neale, B.M.1
Rivas, M.A.2
Voight, B.F.3
Altshuler, D.4
Devlin, B.5
Orho-Melander, M.6
|