-
1
-
-
4844229391
-
Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes
-
Huang H, Winter EE, Wang H, Weinstock KG, Xing H, et al. (2004) Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes. Genome Biol 5: R47.
-
(2004)
Genome Biol
, vol.5
-
-
Huang, H.1
Winter, E.E.2
Wang, H.3
Weinstock, K.G.4
Xing, H.5
-
3
-
-
0242285634
-
Human disease genes: patterns and predictions
-
Smith NG, Eyre-Walker A, (2003) Human disease genes: patterns and predictions. Gene 318: 169-175.
-
(2003)
Gene
, vol.318
, pp. 169-175
-
-
Smith, N.G.1
Eyre-Walker, A.2
-
4
-
-
3543106033
-
Genome-wide identification of genes likely to be involved in human genetic disease
-
Lopez-Bigas N, Ouzounis CA, (2004) Genome-wide identification of genes likely to be involved in human genetic disease. Nucleic Acids Res 32: 3108-3114.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 3108-3114
-
-
Lopez-Bigas, N.1
Ouzounis, C.A.2
-
5
-
-
34547140875
-
The human disease network
-
Goh KI, Cusick ME, Valle D, Childs B, Vidal M, et al. (2007) The human disease network. Proc Natl Acad Sci U S A 104: 8685-8690.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 8685-8690
-
-
Goh, K.I.1
Cusick, M.E.2
Valle, D.3
Childs, B.4
Vidal, M.5
-
6
-
-
56449113261
-
An ancient evolutionary origin of genes associated with human genetic diseases
-
Domazet-Loso T, Tautz D, (2008) An ancient evolutionary origin of genes associated with human genetic diseases. Mol Biol Evol 25: 2699-2707.
-
(2008)
Mol Biol Evol
, vol.25
, pp. 2699-2707
-
-
Domazet-Loso, T.1
Tautz, D.2
-
7
-
-
78650373804
-
Network medicine: a network-based approach to human disease
-
Barabasi AL, Gulbahce N, Loscalzo J, (2011) Network medicine: a network-based approach to human disease. Nat Rev Genet 12: 56-68.
-
(2011)
Nat Rev Genet
, vol.12
, pp. 56-68
-
-
Barabasi, A.L.1
Gulbahce, N.2
Loscalzo, J.3
-
8
-
-
79952674000
-
Interactome networks and human disease
-
Vidal M, Cusick ME, Barabasi AL, (2011) Interactome networks and human disease. Cell 144: 986-998.
-
(2011)
Cell
, vol.144
, pp. 986-998
-
-
Vidal, M.1
Cusick, M.E.2
Barabasi, A.L.3
-
9
-
-
55949087070
-
Analysis of human disease genes in the context of gene essentiality
-
Park D, Park J, Park SG, Park T, Choi SS, (2008) Analysis of human disease genes in the context of gene essentiality. Genomics 92: 414-418.
-
(2008)
Genomics
, vol.92
, pp. 414-418
-
-
Park, D.1
Park, J.2
Park, S.G.3
Park, T.4
Choi, S.S.5
-
10
-
-
20944445215
-
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
-
Fath MA, Mullins RF, Searby C, Nishimura DY, Wei J, et al. (2005) Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet 14: 1109-1118.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1109-1118
-
-
Fath, M.A.1
Mullins, R.F.2
Searby, C.3
Nishimura, D.Y.4
Wei, J.5
-
11
-
-
0034701943
-
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene
-
Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, et al. (2000) Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet 9: 1321-1328.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1321-1328
-
-
Veugelers, M.1
Cat, B.D.2
Muyldermans, S.Y.3
Reekmans, G.4
Delande, N.5
-
12
-
-
0034028899
-
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
-
van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK, (2000) MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 24: 342-343.
-
(2000)
Nat Genet
, vol.24
, pp. 342-343
-
-
van den Boogaard, M.J.1
Dorland, M.2
Beemer, F.A.3
van Amstel, H.K.4
-
13
-
-
0032919663
-
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
-
Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, et al. (1999) Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 82: 70-76.
-
(1999)
Am J Med Genet
, vol.82
, pp. 70-76
-
-
Kosaki, R.1
Gebbia, M.2
Kosaki, K.3
Lewin, M.4
Bowers, P.5
-
14
-
-
35348897209
-
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans
-
Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, et al. (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 81: 987-994.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 987-994
-
-
Karkera, J.D.1
Lee, J.S.2
Roessler, E.3
Banerjee-Basu, S.4
Ouspenskaia, M.V.5
-
15
-
-
21044452878
-
Heterozygous mutations of OTX2 cause severe ocular malformations
-
Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, et al. (2005) Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 76: 1008-1022.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1008-1022
-
-
Ragge, N.K.1
Brown, A.G.2
Poloschek, C.M.3
Lorenz, B.4
Henderson, R.A.5
-
16
-
-
0033817459
-
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
-
Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, et al. (2000) Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nat Genet 26: 81-84.
-
(2000)
Nat Genet
, vol.26
, pp. 81-84
-
-
Lane, K.B.1
Machado, R.D.2
Pauciulo, M.W.3
Thomson, J.R.4
Phillips 3rd, J.A.5
-
17
-
-
0028966947
-
Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux
-
Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 9: 358-364.
-
(1995)
Nat Genet
, vol.9
, pp. 358-364
-
-
Sanyanusin, P.1
Schimmenti, L.A.2
McNoe, L.A.3
Ward, T.A.4
Pierpont, M.E.5
-
18
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, et al. (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424: 443-447.
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
-
19
-
-
0033652293
-
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
-
Klomp LW, de Koning TJ, Malingre HE, van Beurden EA, Brink M, et al. (2000) Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet 67: 1389-1399.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1389-1399
-
-
Klomp, L.W.1
de Koning, T.J.2
Malingre, H.E.3
van Beurden, E.A.4
Brink, M.5
-
20
-
-
0034679297
-
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)
-
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, et al. (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355: 2119-2124.
-
(2000)
Lancet
, vol.355
, pp. 2119-2124
-
-
McKoy, G.1
Protonotarios, N.2
Crosby, A.3
Tsatsopoulou, A.4
Anastasakis, A.5
-
21
-
-
35948966315
-
STAT5A is epigenetically silenced by the tyrosine kinase NPM1-ALK and acts as a tumor suppressor by reciprocally inhibiting NPM1-ALK expression
-
Zhang Q, Wang HY, Liu X, Wasik MA, (2007) STAT5A is epigenetically silenced by the tyrosine kinase NPM1-ALK and acts as a tumor suppressor by reciprocally inhibiting NPM1-ALK expression. Nat Med 13: 1341-1348.
-
(2007)
Nat Med
, vol.13
, pp. 1341-1348
-
-
Zhang, Q.1
Wang, H.Y.2
Liu, X.3
Wasik, M.A.4
-
22
-
-
6944252248
-
Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia
-
Graux C, Cools J, Melotte C, Quentmeier H, Ferrando A, et al. (2004) Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet 36: 1084-1089.
-
(2004)
Nat Genet
, vol.36
, pp. 1084-1089
-
-
Graux, C.1
Cools, J.2
Melotte, C.3
Quentmeier, H.4
Ferrando, A.5
-
23
-
-
0031913524
-
Activating Smoothened mutations in sporadic basal-cell carcinoma
-
Xie J, Murone M, Luoh SM, Ryan A, Gu Q, et al. (1998) Activating Smoothened mutations in sporadic basal-cell carcinoma. Nature 391: 90-92.
-
(1998)
Nature
, vol.391
, pp. 90-92
-
-
Xie, J.1
Murone, M.2
Luoh, S.M.3
Ryan, A.4
Gu, Q.5
-
24
-
-
0003436550
-
Mendelian Inheritance in Man
-
A Catalog of Human Genes and Genetic Disorders. Baltimore, MD, Johns Hopkins University Press
-
McKusick V, (1998) Mendelian Inheritance in Man. A Catalog of Human Genes and Genetic Disorders. Baltimore, MD Johns Hopkins University Press.
-
(1998)
-
-
McKusick, V.1
-
25
-
-
13444266370
-
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
-
Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA, (2005) Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res 33: D514-517.
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 514-517
-
-
Hamosh, A.1
Scott, A.F.2
Amberger, J.S.3
Bocchini, C.A.4
McKusick, V.A.5
-
26
-
-
33846042972
-
The mouse genome database (MGD): new features facilitating a model system
-
Eppig JT, Blake JA, Bult CJ, Kadin JA, Richardson JE, (2007) The mouse genome database (MGD): new features facilitating a model system. Nucleic Acids 35: D630-637.
-
(2007)
Nucleic Acids
, vol.35
, pp. 630-637
-
-
Eppig, J.T.1
Blake, J.A.2
Bult, C.J.3
Kadin, J.A.4
Richardson, J.E.5
-
27
-
-
38549174065
-
The Mouse Genome Database (MGD): mouse biology and model systems
-
Bult CJ, Eppig JT, Kadin JA, Richardson JE, Blake JA, (2008) The Mouse Genome Database (MGD): mouse biology and model systems. Nucleic Acids Res 36: D724-728.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 724-728
-
-
Bult, C.J.1
Eppig, J.T.2
Kadin, J.A.3
Richardson, J.E.4
Blake, J.A.5
-
28
-
-
63449086872
-
The complex relationship of gene duplication and essentiality
-
Makino T, Hokamp K, McLysaght A, (2009) The complex relationship of gene duplication and essentiality. Trends Genet 25: 152-155.
-
(2009)
Trends Genet
, vol.25
, pp. 152-155
-
-
Makino, T.1
Hokamp, K.2
McLysaght, A.3
-
29
-
-
33644897576
-
Further understanding human disease genes by comparing with housekeeping genes and other genes
-
Tu Z, Wang L, Xu M, Zhou X, Chen T, et al. (2006) Further understanding human disease genes by comparing with housekeeping genes and other genes. BMC Genomics, 7: 31.
-
(2006)
BMC Genomics,
, vol.7
, pp. 31
-
-
Tu, Z.1
Wang, L.2
Xu, M.3
Zhou, X.4
Chen, T.5
-
30
-
-
0038692119
-
Human housekeeping genes are compact
-
Eisenberg E, Levanon EY, (2003) Human housekeeping genes are compact. Trends Genet 19: 362-365.
-
(2003)
Trends Genet
, vol.19
, pp. 362-365
-
-
Eisenberg, E.1
Levanon, E.Y.2
-
31
-
-
0037370476
-
The genetics and genomics of cancer
-
Balmain A, Gray J, Ponder B, (2003) The genetics and genomics of cancer. Nat Genet 33 (Suppl): 238-244.
-
(2003)
Nat Genet
, vol.33
, Issue.SUPPL
, pp. 238-244
-
-
Balmain, A.1
Gray, J.2
Ponder, B.3
-
32
-
-
28944434076
-
Protein function, connectivity, and duplicability in yeast
-
Prachumwat A, Li WH, (2006) Protein function, connectivity, and duplicability in yeast. Mol Biol Evol 23: 30-39.
-
(2006)
Mol Biol Evol
, vol.23
, pp. 30-39
-
-
Prachumwat, A.1
Li, W.H.2
-
33
-
-
0346801873
-
The Gene Ontology (GO) database and informatics resource
-
Harris MA, Clark J, Ireland A, Lomax J, Ashburner M, et al. (2004) The Gene Ontology (GO) database and informatics resource. Nucleic Acids Res 32: D258-261.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 258-261
-
-
Harris, M.A.1
Clark, J.2
Ireland, A.3
Lomax, J.4
Ashburner, M.5
-
34
-
-
44349173103
-
Null mutations in human and mouse orthologs frequently result in different phenotypes
-
Liao BY, Zhang J, (2008) Null mutations in human and mouse orthologs frequently result in different phenotypes. Proc Natl Acad Sci U S A 105: 6987-6992.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 6987-6992
-
-
Liao, B.Y.1
Zhang, J.2
-
35
-
-
77249138258
-
A review of current large-scale mouse knockout efforts
-
Guan C, Ye C, Yang X, Gao J, (2010) A review of current large-scale mouse knockout efforts. Genesis 48: 73-85.
-
(2010)
Genesis
, vol.48
, pp. 73-85
-
-
Guan, C.1
Ye, C.2
Yang, X.3
Gao, J.4
-
36
-
-
77951240586
-
Network properties of complex human disease genes identified through genome-wide association studies
-
Barrenas F, Chavali S, Holme P, Mobini R, Benson M, (2009) Network properties of complex human disease genes identified through genome-wide association studies. PLoS One 4: e8090.
-
(2009)
PLoS One
, vol.4
-
-
Barrenas, F.1
Chavali, S.2
Holme, P.3
Mobini, R.4
Benson, M.5
-
37
-
-
77952961276
-
Network properties of human disease genes with pleiotropic effects
-
Chavali S, Barrenas F, Kanduri K, Benson M, (2010) Network properties of human disease genes with pleiotropic effects. BMC Syst Biol 4: 78.
-
(2010)
BMC Syst Biol
, vol.4
, pp. 78
-
-
Chavali, S.1
Barrenas, F.2
Kanduri, K.3
Benson, M.4
-
38
-
-
1842831283
-
Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers
-
Kho AT, Zhao Q, Cai Z, Butte AJ, Kim JY, et al. (2004) Conserved mechanisms across development and tumorigenesis revealed by a mouse development perspective of human cancers. Genes Dev 18: 629-640.
-
(2004)
Genes Dev
, vol.18
, pp. 629-640
-
-
Kho, A.T.1
Zhao, Q.2
Cai, Z.3
Butte, A.J.4
Kim, J.Y.5
-
39
-
-
78650074133
-
The relationship between early embryo development and tumourigenesis
-
Ma Y, Zhang P, Wang F, Yang J, Yang Z, et al. (2010) The relationship between early embryo development and tumourigenesis. J Cell Mol Med 14: 2697-2701.
-
(2010)
J Cell Mol Med
, vol.14
, pp. 2697-2701
-
-
Ma, Y.1
Zhang, P.2
Wang, F.3
Yang, J.4
Yang, Z.5
-
40
-
-
78751705886
-
Early-life origin of adult disease: evidence from natural experiments
-
Vaiserman A, (2011) Early-life origin of adult disease: evidence from natural experiments. Exp Gerontol 46: 189-192.
-
(2011)
Exp Gerontol
, vol.46
, pp. 189-192
-
-
Vaiserman, A.1
-
41
-
-
54549103518
-
Prioritization of candidate cancer genes--an aid to oncogenomic studies
-
Furney SJ, Calvo B, Larranaga P, Lozano JA, Lopez-Bigas N, (2008) Prioritization of candidate cancer genes--an aid to oncogenomic studies. Nucleic Acids Res 36: e115.
-
(2008)
Nucleic Acids Res
, vol.36
-
-
Furney, S.J.1
Calvo, B.2
Larranaga, P.3
Lozano, J.A.4
Lopez-Bigas, N.5
-
42
-
-
38549173606
-
The BioGRID Interaction Database: 2008 update
-
Breitkreutz BJ, Stark C, Reguly T, Boucher L, Breitkreutz A, et al. (2008) The BioGRID Interaction Database: 2008 update. Nucleic Acids Res 36: D637-640.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 637-640
-
-
Breitkreutz, B.J.1
Stark, C.2
Reguly, T.3
Boucher, L.4
Breitkreutz, A.5
-
43
-
-
0037245913
-
BIND: the Biomolecular Interaction Network Database
-
Bader GD, Betel D, Hogue CW, (2003) BIND: the Biomolecular Interaction Network Database. Nucleic Acids Res 31: 248-250.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 248-250
-
-
Bader, G.D.1
Betel, D.2
Hogue, C.W.3
-
44
-
-
58149193222
-
Human Protein Reference Database--2009 update
-
Keshava Prasad TS, Goel R, Kandasamy K, Keerthikumar S, Kumar S, et al. (2009) Human Protein Reference Database--2009 update. Nucleic Acids Res 37: D767-772.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 767-772
-
-
Keshava Prasad, T.S.1
Goel, R.2
Kandasamy, K.3
Keerthikumar, S.4
Kumar, S.5
-
45
-
-
0028230073
-
Understanding and using the medical subject headings (MeSH) vocabulary to perform literature searches
-
Lowe HJ, Barnett GO, (1994) Understanding and using the medical subject headings (MeSH) vocabulary to perform literature searches. JAMA 271: 1103-1108.
-
(1994)
JAMA
, vol.271
, pp. 1103-1108
-
-
Lowe, H.J.1
Barnett, G.O.2
-
47
-
-
0242490780
-
Cytoscape: a software environment for integrated models of biomolecular interaction networks
-
Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, et al. (2003) Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 13: 2498-2504.
-
(2003)
Genome Res
, vol.13
, pp. 2498-2504
-
-
Shannon, P.1
Markiel, A.2
Ozier, O.3
Baliga, N.S.4
Wang, J.T.5
-
48
-
-
75249086155
-
NAViGaTOR: Network Analysis, Visualization and Graphing Toronto
-
Brown KR, Otasek D, Ali M, McGuffin MJ, Xie W, et al. (2009) NAViGaTOR: Network Analysis, Visualization and Graphing Toronto. Bioinformatics 25: 3327-3329.
-
(2009)
Bioinformatics
, vol.25
, pp. 3327-3329
-
-
Brown, K.R.1
Otasek, D.2
Ali, M.3
McGuffin, M.J.4
Xie, W.5
-
49
-
-
70149113077
-
R: A Language and Environment for Statistical Computing
-
R-Development-Core-Team, Vienna, Austria, R Foundation for Statistical Computing
-
R-Development-Core-Team (2009) R: A Language and Environment for Statistical Computing. Vienna, Austria R Foundation for Statistical Computing.
-
(2009)
-
-
-
50
-
-
77952321133
-
The igraph software package for complex network research: InterJournal Complex Systems
-
Csárdi G, Nepusz T, (2006) The igraph software package for complex network research: InterJournal Complex Systems.
-
(2006)
-
-
Csárdi, G.1
Nepusz, T.2
-
51
-
-
24044440971
-
BiNGO: a Cytoscape plugin to assess overrepresentation of gene ontology categories in biological networks
-
Maere S, Heymans K, Kuiper M, (2005) BiNGO: a Cytoscape plugin to assess overrepresentation of gene ontology categories in biological networks. Bioinformatics 21: 3448-3449.
-
(2005)
Bioinformatics
, vol.21
, pp. 3448-3449
-
-
Maere, S.1
Heymans, K.2
Kuiper, M.3
-
52
-
-
45449101500
-
Natural selection on genes that underlie human disease susceptibility
-
Blekhman R, Man O, Herrmann L, Boyko A, Indap A, et al. (2008) Natural selection on genes that underlie human disease susceptibility. Curr Biol 18: 883-889.
-
(2008)
Curr Biol
, vol.18
, pp. 883-889
-
-
Blekhman, R.1
Man, O.2
Herrmann, L.3
Boyko, A.4
Indap, A.5
|