-
1
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
Manolio T.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
-
2
-
-
77952557918
-
Missing heritability and strategies for finding the underlying causes of complex disease
-
Eichler E.E., et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet. 2010, 11:446-450.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 446-450
-
-
Eichler, E.E.1
-
3
-
-
84855925920
-
Rare and common variants: twenty arguments
-
Gibson G. Rare and common variants: twenty arguments. Nat. Rev. Genet. 2011, 13:135-145.
-
(2011)
Nat. Rev. Genet.
, vol.13
, pp. 135-145
-
-
Gibson, G.1
-
4
-
-
84856405512
-
The mystery of missing heritability: genetic interactions create phantom heritability
-
Zuk O., et al. The mystery of missing heritability: genetic interactions create phantom heritability. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:1193-1198.
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 1193-1198
-
-
Zuk, O.1
-
5
-
-
84873722165
-
Finding the sources of missing heritability in a yeast cross
-
Bloom J.S., et al. Finding the sources of missing heritability in a yeast cross. Nature 2013, 494:234-237.
-
(2013)
Nature
, vol.494
, pp. 234-237
-
-
Bloom, J.S.1
-
6
-
-
77958102017
-
Missing heritability and stochastic genome alterations
-
Heng H.H.Q. Missing heritability and stochastic genome alterations. Nat. Rev. Genet. 2010, 11:813.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 813
-
-
Heng, H.H.Q.1
-
7
-
-
45849092558
-
Simple sequence repeats: genetic modulators of brain function and behavior
-
Fondon J.W., et al. Simple sequence repeats: genetic modulators of brain function and behavior. Trends Neurosci. 2008, 31:328-334.
-
(2008)
Trends Neurosci.
, vol.31
, pp. 328-334
-
-
Fondon, J.W.1
-
8
-
-
75149154292
-
Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'
-
Hannan A.J. Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for 'missing heritability'. Trends Genet. 2010, 26:59-65.
-
(2010)
Trends Genet.
, vol.26
, pp. 59-65
-
-
Hannan, A.J.1
-
9
-
-
0037268258
-
Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions
-
Subramanian S., et al. Genome-wide analysis of microsatellite repeats in humans: their abundance and density in specific genomic regions. Genome Biol. 2003, 4:R13.
-
(2003)
Genome Biol.
, vol.4
, pp. R13
-
-
Subramanian, S.1
-
10
-
-
33745056327
-
Tandem repeat copy-number variation in protein-coding regions of human genes
-
O'Dushlaine C.T., et al. Tandem repeat copy-number variation in protein-coding regions of human genes. Genome Biol. 2005, 6:R69.
-
(2005)
Genome Biol.
, vol.6
, pp. R69
-
-
O'Dushlaine, C.T.1
-
11
-
-
33745012569
-
Mutation patterns of amino acid tandem repeats in the human proteome
-
Mularoni L., et al. Mutation patterns of amino acid tandem repeats in the human proteome. Genome Biol. 2006, 7:R33.
-
(2006)
Genome Biol.
, vol.7
, pp. R33
-
-
Mularoni, L.1
-
12
-
-
84929658071
-
The landscape of human STR variation
-
Willems T.F., et al. The landscape of human STR variation. bioRχiv 2014, 10.1101/004671.
-
(2014)
bioRχiv
-
-
Willems, T.F.1
-
13
-
-
84863012360
-
The Drosophila melanogaster Genetic Reference Panel
-
Mackay T.F.C., et al. The Drosophila melanogaster Genetic Reference Panel. Nature 2012, 482:173-178.
-
(2012)
Nature
, vol.482
, pp. 173-178
-
-
Mackay, T.F.C.1
-
14
-
-
0031081111
-
Simple sequence repeats as a source of quantitative genetic variation
-
Kashi Y., et al. Simple sequence repeats as a source of quantitative genetic variation. Trends Genet. 1997, 13:74-78.
-
(1997)
Trends Genet.
, vol.13
, pp. 74-78
-
-
Kashi, Y.1
-
15
-
-
0025912402
-
Hereditary unstable DNA: a new explanation for some old genetic questions?
-
Sutherland G.R., et al. Hereditary unstable DNA: a new explanation for some old genetic questions?. Lancet 1991, 338:289-292.
-
(1991)
Lancet
, vol.338
, pp. 289-292
-
-
Sutherland, G.R.1
-
16
-
-
65249153186
-
Every microsatellite is different: intrinsic DNA features dictate mutagenesis of common microsatellites present in the human genome
-
Eckert K.A., Hile S.E. Every microsatellite is different: intrinsic DNA features dictate mutagenesis of common microsatellites present in the human genome. Mol. Carcinog. 2009, 48:379-388.
-
(2009)
Mol. Carcinog.
, vol.48
, pp. 379-388
-
-
Eckert, K.A.1
Hile, S.E.2
-
17
-
-
38849170546
-
Sequence-based estimation of minisatellite and microsatellite repeat variability
-
Legendre M., et al. Sequence-based estimation of minisatellite and microsatellite repeat variability. Genome Res. 2007, 17:1787-1796.
-
(2007)
Genome Res.
, vol.17
, pp. 1787-1796
-
-
Legendre, M.1
-
18
-
-
84892727951
-
Genome-wide analysis of tandem repeats in plants and green algae
-
Zhao Z., et al. Genome-wide analysis of tandem repeats in plants and green algae. G3 2014, 4:67-78.
-
(2014)
G3
, vol.4
, pp. 67-78
-
-
Zhao, Z.1
-
19
-
-
84899513558
-
Deep conservation of human protein tandem repeats within the eukaryotes
-
Schaper E., et al. Deep conservation of human protein tandem repeats within the eukaryotes. Mol. Biol. Evol. 2014, 31:1132-1148.
-
(2014)
Mol. Biol. Evol.
, vol.31
, pp. 1132-1148
-
-
Schaper, E.1
-
20
-
-
84864697519
-
Insight into role of selection in the evolution of polyglutamine tracts in humans
-
Li H., et al. Insight into role of selection in the evolution of polyglutamine tracts in humans. PLoS ONE 2012, 7:e41167.
-
(2012)
PLoS ONE
, vol.7
, pp. e41167
-
-
Li, H.1
-
21
-
-
78149432728
-
Variable tandem repeats accelerate evolution of coding and regulatory sequences
-
Gemayel R., et al. Variable tandem repeats accelerate evolution of coding and regulatory sequences. Annu. Rev. Genet. 2010, 44:445-477.
-
(2010)
Annu. Rev. Genet.
, vol.44
, pp. 445-477
-
-
Gemayel, R.1
-
22
-
-
66349113764
-
Unstable tandem repeats in promoters confer transcriptional evolvability
-
Vinces M.D., et al. Unstable tandem repeats in promoters confer transcriptional evolvability. Science 2009, 324:1213-1216.
-
(2009)
Science
, vol.324
, pp. 1213-1216
-
-
Vinces, M.D.1
-
23
-
-
84873559405
-
Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements
-
Sawaya S., et al. Microsatellite tandem repeats are abundant in human promoters and are associated with regulatory elements. PLoS ONE 2013, 8:e54710.
-
(2013)
PLoS ONE
, vol.8
-
-
Sawaya, S.1
-
24
-
-
84869768769
-
Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3
-
Undurraga S.F., et al. Background-dependent effects of polyglutamine variation in the Arabidopsis thaliana gene ELF3. Proc. Natl. Acad. Sci. U.S.A. 2012, 109:19363-19367.
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 19363-19367
-
-
Undurraga, S.F.1
-
25
-
-
39849099440
-
Simple sequence repeats provide a substrate for phenotypic variation in the Neurospora crassa circadian clock
-
Michael T.P., et al. Simple sequence repeats provide a substrate for phenotypic variation in the Neurospora crassa circadian clock. PLoS ONE 2007, 2:e795.
-
(2007)
PLoS ONE
, vol.2
, pp. e795
-
-
Michael, T.P.1
-
26
-
-
0031442734
-
Natural variation in a Drosophila clock gene and temperature compensation
-
Sawyer L.A. Natural variation in a Drosophila clock gene and temperature compensation. Science 1997, 278:2117-2120.
-
(1997)
Science
, vol.278
, pp. 2117-2120
-
-
Sawyer, L.A.1
-
27
-
-
84898822721
-
Variation in Arabidopsis flowering time associated with cis-regulatory variation in CONSTANS
-
Rosas U., et al. Variation in Arabidopsis flowering time associated with cis-regulatory variation in CONSTANS. Nat. Commun. 2014, 5:3651.
-
(2014)
Nat. Commun.
, vol.5
, pp. 3651
-
-
Rosas, U.1
-
28
-
-
84888594934
-
Evolution of a genetic incompatibility in the genus Xiphophorus
-
Scarpino S.V., et al. Evolution of a genetic incompatibility in the genus Xiphophorus. Mol. Biol. Evol. 2013, 30:2302-2310.
-
(2013)
Mol. Biol. Evol.
, vol.30
, pp. 2302-2310
-
-
Scarpino, S.V.1
-
29
-
-
0032534069
-
A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer
-
Boland C.R., et al. A National Cancer Institute Workshop on Microsatellite Instability for Cancer Detection and Familial Predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998, 58:5248-5257.
-
(1998)
Cancer Res.
, vol.58
, pp. 5248-5257
-
-
Boland, C.R.1
-
30
-
-
0037665888
-
Pathogen-induced systemic plant signal triggers DNA rearrangements
-
Kovalchuk I., et al. Pathogen-induced systemic plant signal triggers DNA rearrangements. Nature 2003, 423:760-762.
-
(2003)
Nature
, vol.423
, pp. 760-762
-
-
Kovalchuk, I.1
-
31
-
-
76349117871
-
Hsp90 prevents phenotypic variation by suppressing the mutagenic activity of transposons
-
Specchia V., et al. Hsp90 prevents phenotypic variation by suppressing the mutagenic activity of transposons. Nature 2010, 463:662-665.
-
(2010)
Nature
, vol.463
, pp. 662-665
-
-
Specchia, V.1
-
32
-
-
77955716080
-
Hsp90 modulates CAG repeat instability in human cells
-
Mittelman D., et al. Hsp90 modulates CAG repeat instability in human cells. Cell Stress Chaperones 2010, 15:753-759.
-
(2010)
Cell Stress Chaperones
, vol.15
, pp. 753-759
-
-
Mittelman, D.1
-
33
-
-
84870682013
-
Lessons from model organisms: phenotypic robustness and missing heritability in complex disease
-
Queitsch C., et al. Lessons from model organisms: phenotypic robustness and missing heritability in complex disease. PLoS Genet. 2012, 8:e1003041.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1003041
-
-
Queitsch, C.1
-
34
-
-
84881617235
-
Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing
-
Guilmatre A., et al. Rapid multiplexed genotyping of simple tandem repeats using capture and high-throughput sequencing. Hum. Mutat. 2013, 34:1304-1311.
-
(2013)
Hum. Mutat.
, vol.34
, pp. 1304-1311
-
-
Guilmatre, A.1
-
35
-
-
84901298048
-
Large-scale analysis of tandem repeat variability in the human genome
-
Duitama J., et al. Large-scale analysis of tandem repeat variability in the human genome. Nucleic Acids Res. 2014, 42:5728-5741.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. 5728-5741
-
-
Duitama, J.1
-
36
-
-
84871774158
-
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles
-
Highnam G., et al. Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles. Nucleic Acids Res. 2013, 41:e32.
-
(2013)
Nucleic Acids Res.
, vol.41
, pp. e32
-
-
Highnam, G.1
-
37
-
-
84861861291
-
LobSTR: a short tandem repeat profiler for personal genomes
-
Gymrek M., et al. lobSTR: a short tandem repeat profiler for personal genomes. Genome Res. 2012, 22:1154-1162.
-
(2012)
Genome Res.
, vol.22
, pp. 1154-1162
-
-
Gymrek, M.1
-
38
-
-
84896731172
-
Inferring short tandem repeat variation from paired-end short reads
-
Cao M.D., et al. Inferring short tandem repeat variation from paired-end short reads. Nucleic Acids Res. 2014, 42:e16.
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. e16
-
-
Cao, M.D.1
-
39
-
-
25844487226
-
Diseases of unstable repeat expansion: mechanisms and common principles
-
Gatchel J.R., Zoghbi H.Y. Diseases of unstable repeat expansion: mechanisms and common principles. Nat. Rev. Genet. 2005, 6:743-755.
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
40
-
-
84872292675
-
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
-
Poeta L., et al. A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. Am. J. Hum. Genet. 2013, 92:114-125.
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 114-125
-
-
Poeta, L.1
-
41
-
-
0037624040
-
Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene
-
Caspi A., et al. Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science 2003, 301:386-389.
-
(2003)
Science
, vol.301
, pp. 386-389
-
-
Caspi, A.1
-
42
-
-
84866724935
-
IL1 receptor antagonist gene IL1-RN variable number of tandem repeats polymorphism and cancer risk: a literature review and meta-analysis
-
Zhang Y., et al. IL1 receptor antagonist gene IL1-RN variable number of tandem repeats polymorphism and cancer risk: a literature review and meta-analysis. PLoS ONE 2012, 7:e46017.
-
(2012)
PLoS ONE
, vol.7
, pp. e46017
-
-
Zhang, Y.1
-
43
-
-
84879816816
-
DAT1 polymorphism determines L-DOPA effects on learning about others' prosociality
-
Eisenegger C., et al. DAT1 polymorphism determines L-DOPA effects on learning about others' prosociality. PLoS ONE 2013, 8:e67820.
-
(2013)
PLoS ONE
, vol.8
, pp. e67820
-
-
Eisenegger, C.1
-
44
-
-
84875413869
-
Association of IL-4 gene VNTR variant with deep venous thrombosis in Behçet's disease and its effect on ocular involvement
-
Inanir A., et al. Association of IL-4 gene VNTR variant with deep venous thrombosis in Behçet's disease and its effect on ocular involvement. Mol. Vis. 2013, 19:675-683.
-
(2013)
Mol. Vis.
, vol.19
, pp. 675-683
-
-
Inanir, A.1
-
45
-
-
84865060439
-
Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation
-
Morrison N.A., et al. Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation. PLoS ONE 2012, 7:e42617.
-
(2012)
PLoS ONE
, vol.7
, pp. e42617
-
-
Morrison, N.A.1
-
46
-
-
84884583287
-
Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females
-
Morrison N.A., et al. Polyalanine repeat polymorphism in RUNX2 is associated with site-specific fracture in post-menopausal females. PLoS ONE 2013, 8:e72740.
-
(2013)
PLoS ONE
, vol.8
, pp. e72740
-
-
Morrison, N.A.1
-
47
-
-
11144230088
-
Molecular origins of rapid and continuous morphological evolution
-
Fondon J.W., Garner H.R. Molecular origins of rapid and continuous morphological evolution. Proc. Natl. Acad. Sci. U.S.A. 2004, 101:18058-18063.
-
(2004)
Proc. Natl. Acad. Sci. U.S.A.
, vol.101
, pp. 18058-18063
-
-
Fondon, J.W.1
Garner, H.R.2
-
48
-
-
84888220040
-
Systematic analysis of compositional order of proteins reveals new characteristics of biological functions and a universal correlate of macroevolution
-
Persi E., Horn D. Systematic analysis of compositional order of proteins reveals new characteristics of biological functions and a universal correlate of macroevolution. PLoS Comput. Biol. 2013, 9:e1003346.
-
(2013)
PLoS Comput. Biol.
, vol.9
, pp. e1003346
-
-
Persi, E.1
Horn, D.2
-
49
-
-
33846844726
-
Highly constrained proteins contain an unexpectedly large number of amino acid tandem repeats
-
Mularoni L., et al. Highly constrained proteins contain an unexpectedly large number of amino acid tandem repeats. Genomics 2007, 89:316-325.
-
(2007)
Genomics
, vol.89
, pp. 316-325
-
-
Mularoni, L.1
-
50
-
-
77952977231
-
Natural selection drives the accumulation of amino acid tandem repeats in human proteins
-
Mularoni L., et al. Natural selection drives the accumulation of amino acid tandem repeats in human proteins. Genome Res. 2010, 20:745-754.
-
(2010)
Genome Res.
, vol.20
, pp. 745-754
-
-
Mularoni, L.1
-
51
-
-
55449105229
-
Positive selection of a pre-expansion CAG repeat of the human SCA2 gene
-
Yu F., et al. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005, 1:e41.
-
(2005)
PLoS Genet.
, vol.1
, pp. e41
-
-
Yu, F.1
-
52
-
-
84865067382
-
Beyond junk-variable tandem repeats as facilitators of rapid evolution of regulatory and coding sequences
-
Gemayel R., et al. Beyond junk-variable tandem repeats as facilitators of rapid evolution of regulatory and coding sequences. Genes (Basel) 2012, 3:461-480.
-
(2012)
Genes (Basel)
, vol.3
, pp. 461-480
-
-
Gemayel, R.1
-
53
-
-
34548426463
-
Elevated basal slippage mutation rates among the Canidae
-
Laidlaw J., et al. Elevated basal slippage mutation rates among the Canidae. J. Hered. 2007, 98:452-460.
-
(2007)
J. Hered.
, vol.98
, pp. 452-460
-
-
Laidlaw, J.1
-
54
-
-
84865962447
-
Indirect selection of implicit mutation protocols
-
King D.G. Indirect selection of implicit mutation protocols. Ann. N. Y. Acad. Sci. 2012, 1267:45-52.
-
(2012)
Ann. N. Y. Acad. Sci.
, vol.1267
, pp. 45-52
-
-
King, D.G.1
-
55
-
-
60749097197
-
A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana
-
Sureshkumar S., et al. A genetic defect caused by a triplet repeat expansion in Arabidopsis thaliana. Science 2009, 323:1060-1063.
-
(2009)
Science
, vol.323
, pp. 1060-1063
-
-
Sureshkumar, S.1
-
56
-
-
20644472668
-
Microsatellite instability generates diversity in brain and sociobehavioral traits
-
Hammock E.A.D., Young L.J. Microsatellite instability generates diversity in brain and sociobehavioral traits. Science 2005, 308:1630-1634.
-
(2005)
Science
, vol.308
, pp. 1630-1634
-
-
Hammock, E.A.D.1
Young, L.J.2
-
57
-
-
25144494777
-
Intragenic tandem repeats generate functional variability
-
Verstrepen K.J., et al. Intragenic tandem repeats generate functional variability. Nat. Genet. 2005, 37:986-990.
-
(2005)
Nat. Genet.
, vol.37
, pp. 986-990
-
-
Verstrepen, K.J.1
-
58
-
-
0032516051
-
Molecular coevolution within a Drosophila clock gene
-
Peixoto A.A., et al. Molecular coevolution within a Drosophila clock gene. Proc. Natl. Acad. Sci. U.S.A. 1998, 95:4475-4480.
-
(1998)
Proc. Natl. Acad. Sci. U.S.A.
, vol.95
, pp. 4475-4480
-
-
Peixoto, A.A.1
-
59
-
-
33846816872
-
Regulation of CDKN2A/B and retinoblastoma genes in Xiphophorus melanoma
-
Butler A.P., et al. Regulation of CDKN2A/B and retinoblastoma genes in Xiphophorus melanoma. Comp. Biochem. Physiol. C: Toxicol. Pharmacol. 2007, 145:145-155.
-
(2007)
Comp. Biochem. Physiol. C: Toxicol. Pharmacol.
, vol.145
, pp. 145-155
-
-
Butler, A.P.1
-
60
-
-
0000035303
-
The genetics of a viviparous top-minnow Platypoecilus; the inheritance of two kinds of melanophores
-
Gordon M. The genetics of a viviparous top-minnow Platypoecilus; the inheritance of two kinds of melanophores. Genetics 1927, 12:253-283.
-
(1927)
Genetics
, vol.12
, pp. 253-283
-
-
Gordon, M.1
-
61
-
-
34347193937
-
Über Kreuzungen zwischen den Teleostiern Xiphophorus helleri und Platypoecilus maculatus
-
Kosswig C. Über Kreuzungen zwischen den Teleostiern Xiphophorus helleri und Platypoecilus maculatus. Z. Indukt. Abstammungs-Vererbungsl. 1928, 47:150-158.
-
(1928)
Z. Indukt. Abstammungs-Vererbungsl.
, vol.47
, pp. 150-158
-
-
Kosswig, C.1
-
62
-
-
33750942658
-
From Mendelian to molecular genetics: the Xiphophorus melanoma model
-
Meierjohann S., Schartl M. From Mendelian to molecular genetics: the Xiphophorus melanoma model. Trends Genet. 2006, 22:654-661.
-
(2006)
Trends Genet.
, vol.22
, pp. 654-661
-
-
Meierjohann, S.1
Schartl, M.2
-
63
-
-
56849102536
-
COP1 and ELF3 control circadian function and photoperiodic flowering by regulating GI stability
-
Yu J-W., et al. COP1 and ELF3 control circadian function and photoperiodic flowering by regulating GI stability. Mol. Cell 2008, 32:617-630.
-
(2008)
Mol. Cell
, vol.32
, pp. 617-630
-
-
Yu, J.-W.1
-
64
-
-
79960621365
-
The ELF4-ELF3-LUX complex links the circadian clock to diurnal control of hypocotyl growth
-
Nusinow D.A., et al. The ELF4-ELF3-LUX complex links the circadian clock to diurnal control of hypocotyl growth. Nature 2011, 475:398-402.
-
(2011)
Nature
, vol.475
, pp. 398-402
-
-
Nusinow, D.A.1
-
65
-
-
0027446360
-
Molecular evolution of a repetitive region within the per gene of Drosophila
-
Peixoto A., et al. Molecular evolution of a repetitive region within the per gene of Drosophila. Mol. Biol. Evol. 1993, 10:127-139.
-
(1993)
Mol. Biol. Evol.
, vol.10
, pp. 127-139
-
-
Peixoto, A.1
-
66
-
-
84884686553
-
Natural genetic variation determines susceptibility to aggregation or toxicity in a C. elegans model for polyglutamine disease
-
Gidalevitz T., et al. Natural genetic variation determines susceptibility to aggregation or toxicity in a C. elegans model for polyglutamine disease. BMC Biol. 2013, 11:100.
-
(2013)
BMC Biol.
, vol.11
, pp. 100
-
-
Gidalevitz, T.1
-
67
-
-
41849097772
-
Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease
-
Metzger S., et al. Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. Hum. Mol. Genet. 2008, 17:1137-1146.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1137-1146
-
-
Metzger, S.1
-
68
-
-
0030937818
-
Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease
-
Rubinsztein D.C., et al. Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease. Proc. Natl. Acad. Sci. U.S.A. 1997, 94:3872-3876.
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 3872-3876
-
-
Rubinsztein, D.C.1
-
69
-
-
26444569294
-
Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes
-
Zühlke C., et al. Spinocerebellar ataxia type 17: report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes. BMC Med. Genet. 2005, 6:27.
-
(2005)
BMC Med. Genet.
, vol.6
, pp. 27
-
-
Zühlke, C.1
-
70
-
-
0034110941
-
Conservation of glutamine-rich transactivation function between yeast and humans
-
Escher D., et al. Conservation of glutamine-rich transactivation function between yeast and humans. Mol. Cell. Biol. 2000, 20:2774-2782.
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 2774-2782
-
-
Escher, D.1
-
71
-
-
84861538096
-
Evolution and function of CAG/polyglutamine repeats in protein-protein interaction networks
-
Schaefer M.H., et al. Evolution and function of CAG/polyglutamine repeats in protein-protein interaction networks. Nucleic Acids Res. 2012, 40:4273-4287.
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 4273-4287
-
-
Schaefer, M.H.1
-
72
-
-
0025719344
-
Somatic mutations and cellular aging: two-dimensional DNA typing of rat fibroblast clones
-
Slagboom P.E., et al. Somatic mutations and cellular aging: two-dimensional DNA typing of rat fibroblast clones. Mutat. Res. 1991, 256:311-321.
-
(1991)
Mutat. Res.
, vol.256
, pp. 311-321
-
-
Slagboom, P.E.1
-
73
-
-
78249286824
-
Microsatellite instability in Arabidopsis increases with plant development
-
Golubov A., et al. Microsatellite instability in Arabidopsis increases with plant development. Plant Physiol. 2010, 154:1415-1427.
-
(2010)
Plant Physiol.
, vol.154
, pp. 1415-1427
-
-
Golubov, A.1
-
74
-
-
77952255626
-
A novel approach to investigate tissue-specific trinucleotide repeat instability
-
Lee J-M., et al. A novel approach to investigate tissue-specific trinucleotide repeat instability. BMC Syst. Biol. 2010, 4:29.
-
(2010)
BMC Syst. Biol.
, vol.4
, pp. 29
-
-
Lee, J.-M.1
-
75
-
-
84888230291
-
Comparing algorithms that reconstruct cell lineage trees utilizing information on microsatellite mutations
-
Chapal-Ilani N., et al. Comparing algorithms that reconstruct cell lineage trees utilizing information on microsatellite mutations. PLoS Comput. Biol. 2013, 9:e1003297.
-
(2013)
PLoS Comput. Biol.
, vol.9
, pp. e1003297
-
-
Chapal-Ilani, N.1
-
76
-
-
69549116107
-
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation
-
Chen K., et al. BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat. Methods 2009, 6:677-681.
-
(2009)
Nat. Methods
, vol.6
, pp. 677-681
-
-
Chen, K.1
-
77
-
-
77952814990
-
Detection and characterization of novel sequence insertions using paired-end next-generation sequencing
-
Hajirasouliha I., et al. Detection and characterization of novel sequence insertions using paired-end next-generation sequencing. Bioinformatics 2010, 26:1277-1283.
-
(2010)
Bioinformatics
, vol.26
, pp. 1277-1283
-
-
Hajirasouliha, I.1
-
78
-
-
79959965448
-
InGAP-sv: a novel scheme to identify and visualize structural variation from paired end mapping data
-
Qi J., Zhao F. inGAP-sv: a novel scheme to identify and visualize structural variation from paired end mapping data. Nucleic Acids Res. 2011, 39:W567-W575.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. W567-W575
-
-
Qi, J.1
Zhao, F.2
-
79
-
-
84874223315
-
Accurate indel prediction using paired-end short reads
-
Grimm D., et al. Accurate indel prediction using paired-end short reads. BMC Genomics 2013, 14:132.
-
(2013)
BMC Genomics
, vol.14
, pp. 132
-
-
Grimm, D.1
-
80
-
-
84925451746
-
Sequencing technologies and tools for short tandem repeat variation detection
-
Cao M.D., et al. Sequencing technologies and tools for short tandem repeat variation detection. Brief. Bioinform. 2014, 10.1093/bib/bbu001.
-
(2014)
Brief. Bioinform.
-
-
Cao, M.D.1
-
81
-
-
84877108149
-
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
-
Hiatt J.B., et al. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res. 2013, 23:843-854.
-
(2013)
Genome Res.
, vol.23
, pp. 843-854
-
-
Hiatt, J.B.1
-
82
-
-
84883158106
-
Overview of statistical methods for genome-wide association studies (GWAS)
-
Hayes B. Overview of statistical methods for genome-wide association studies (GWAS). Methods Mol. Biol. 2013, 1019:149-169.
-
(2013)
Methods Mol. Biol.
, vol.1019
, pp. 149-169
-
-
Hayes, B.1
-
83
-
-
12444313590
-
Localization of a non-melanoma skin cancer susceptibility region within the major histocompatibility complex by association analysis using microsatellite markers
-
Oka A., et al. Localization of a non-melanoma skin cancer susceptibility region within the major histocompatibility complex by association analysis using microsatellite markers. Tissue Antigens 2003, 61:203-210.
-
(2003)
Tissue Antigens
, vol.61
, pp. 203-210
-
-
Oka, A.1
-
84
-
-
84890562372
-
Epistasis and quantitative traits: using model organisms to study gene-gene interactions
-
Mackay T.F.C. Epistasis and quantitative traits: using model organisms to study gene-gene interactions. Nat. Rev. Genet. 2014, 15:22-33.
-
(2014)
Nat. Rev. Genet.
, vol.15
, pp. 22-33
-
-
Mackay, T.F.C.1
-
85
-
-
84888128152
-
A century after Fisher: time for a new paradigm in quantitative genetics
-
Nelson R.M., et al. A century after Fisher: time for a new paradigm in quantitative genetics. Trends Genet. 2013, 29:669-676.
-
(2013)
Trends Genet.
, vol.29
, pp. 669-676
-
-
Nelson, R.M.1
-
86
-
-
0024653890
-
Analysis of somatic mutations at human minisatellite loci in tumors and cell lines
-
Armour J.A.L., et al. Analysis of somatic mutations at human minisatellite loci in tumors and cell lines. Genomics 1989, 4:328-334.
-
(1989)
Genomics
, vol.4
, pp. 328-334
-
-
Armour, J.A.L.1
-
87
-
-
0035284159
-
Microsatellite instability in synchronous gastric carcinomas
-
Lee H.S., et al. Microsatellite instability in synchronous gastric carcinomas. Int. J. Cancer 2001, 91:619-624.
-
(2001)
Int. J. Cancer
, vol.91
, pp. 619-624
-
-
Lee, H.S.1
-
88
-
-
84887924524
-
The landscape of microsatellite instability in colorectal and endometrial cancer genomes
-
Kim T-M., et al. The landscape of microsatellite instability in colorectal and endometrial cancer genomes. Cell 2013, 155:858-868.
-
(2013)
Cell
, vol.155
, pp. 858-868
-
-
Kim, T.-M.1
-
89
-
-
80755187820
-
Human copy number variation and complex genetic disease
-
Girirajan S., et al. Human copy number variation and complex genetic disease. Annu. Rev. Genet. 2011, 45:203-226.
-
(2011)
Annu. Rev. Genet.
, vol.45
, pp. 203-226
-
-
Girirajan, S.1
-
90
-
-
84887556413
-
STaRRRT: a table of short tandem repeats in regulatory regions of the human genome
-
Bolton K.A., et al. STaRRRT: a table of short tandem repeats in regulatory regions of the human genome. BMC Genomics 2013, 14:795.
-
(2013)
BMC Genomics
, vol.14
, pp. 795
-
-
Bolton, K.A.1
-
91
-
-
34250208181
-
Dynamic mutations as digital genetic modulators of brain development, function and dysfunction
-
Nithianantharajah J., Hannan A.J. Dynamic mutations as digital genetic modulators of brain development, function and dysfunction. Bioessays 2007, 29:525-535.
-
(2007)
Bioessays
, vol.29
, pp. 525-535
-
-
Nithianantharajah, J.1
Hannan, A.J.2
-
92
-
-
21044435697
-
Perspective: sign epistasis and genetic costraint on evolutionary trajectories
-
Weinreich D.M., et al. Perspective: sign epistasis and genetic costraint on evolutionary trajectories. Evolution 2005, 59:1165-1174.
-
(2005)
Evolution
, vol.59
, pp. 1165-1174
-
-
Weinreich, D.M.1
-
94
-
-
0028942011
-
The population genetics of speciation: the evolution of hybrid incompatibilities
-
Orr H.A. The population genetics of speciation: the evolution of hybrid incompatibilities. Genetics 1995, 139:1805-1813.
-
(1995)
Genetics
, vol.139
, pp. 1805-1813
-
-
Orr, H.A.1
-
95
-
-
77952136530
-
A draft sequence of the Neandertal genome
-
Green R.E., et al. A draft sequence of the Neandertal genome. Science 2010, 328:710-722.
-
(2010)
Science
, vol.328
, pp. 710-722
-
-
Green, R.E.1
-
96
-
-
78650850475
-
Genetic history of an archaic hominin group from Denisova Cave in Siberia
-
Reich D., et al. Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature 2010, 468:1053-1060.
-
(2010)
Nature
, vol.468
, pp. 1053-1060
-
-
Reich, D.1
-
97
-
-
84975742565
-
A map of human genome variation from population-scale sequencing
-
Abecasis G.R., et al. A map of human genome variation from population-scale sequencing. Nature 2010, 467:1061-1073.
-
(2010)
Nature
, vol.467
, pp. 1061-1073
-
-
Abecasis, G.R.1
-
98
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis G.R., et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012, 491:56-65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
-
99
-
-
80053132716
-
Multiple reference genomes and transcriptomes for Arabidopsis thaliana
-
Gan X., et al. Multiple reference genomes and transcriptomes for Arabidopsis thaliana. Nature 2011, 477:419-423.
-
(2011)
Nature
, vol.477
, pp. 419-423
-
-
Gan, X.1
-
100
-
-
80053384429
-
Whole-genome sequencing of multiple Arabidopsis thaliana populations
-
Cao J., et al. Whole-genome sequencing of multiple Arabidopsis thaliana populations. Nat. Genet. 2011, 43:956-963.
-
(2011)
Nat. Genet.
, vol.43
, pp. 956-963
-
-
Cao, J.1
|