-
1
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
De Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012; 367(20):1921-9.
-
(2012)
N Engl J Med
, vol.367
, Issue.20
, pp. 1921-1929
-
-
De Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
Vulto-van Silfhout, A.T.7
Koolen, D.A.8
de Vries, P.9
Gilissen, C.10
-
2
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, et al. Molecular findings among patients referred for clinical whole-exome sequencing. Jama. 2014; 312(18):1870-9.
-
(2014)
Jama
, vol.312
, Issue.18
, 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
-
3
-
-
84924666082
-
Study TDDD: Large-scale discovery of novel genetic causes of developmental disorders
-
Study TDDD: Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015; 519(7542):223-8.
-
(2015)
Nature
, vol.519
, Issue.7542
, pp. 223-228
-
-
-
4
-
-
84907284564
-
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
-
252-123252123
-
Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Sci Transl Med. 2014; 6(252):252-123252123.
-
(2014)
Sci Transl Med
, vol.6
, Issue.252
-
-
Zemojtel, T.1
Köhler, S.2
Mackenroth, L.3
Jäger, M.4
Hecht, J.5
Krawitz, P.6
Graul-Neumann, L.7
Doelken, S.8
Ehmke, N.9
Spielmann, M.10
-
5
-
-
85010986735
-
Predicting disease-related genes using integrated biomedical networks
-
Peng J, Bai K, Shang X, Wang G, Xue H, Jin S, Cheng L, Wang Y, Jin C. Predicting disease-related genes using integrated biomedical networks. Bmc Genomics. 2017; 18(1):1043.
-
(2017)
Bmc Genomics
, vol.18
, Issue.1
, pp. 1043
-
-
Peng, J.1
Bai, K.2
Shang, X.3
Wang, G.4
Xue, H.5
Jin, S.6
Cheng, L.7
Wang, Y.8
Jin, C.9
-
6
-
-
77953888015
-
Prioritization of disease micrornas through a human phenome-micrornaome network
-
Jiang Q, Hao Y, Wang G, Juan L, Zhang T, Teng M, Liu Y, Wang Y. Prioritization of disease micrornas through a human phenome-micrornaome network. BMC Syst Biol. 2010; 4 Suppl 1(Suppl 1):1-9.
-
(2010)
BMC Syst Biol
, vol.4
, pp. 1-9
-
-
Jiang, Q.1
Hao, Y.2
Wang, G.3
Juan, L.4
Zhang, T.5
Teng, M.6
Liu, Y.7
Wang, Y.8
-
7
-
-
84954358609
-
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
-
Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet. 2008; 83(5):610-5.
-
(2008)
Am J Hum Genet
, vol.83
, Issue.5
, pp. 610-615
-
-
Robinson, P.N.1
Köhler, S.2
Bauer, S.3
Seelow, D.4
Horn, D.5
Mundlos, S.6
-
8
-
-
84922211548
-
Finding our way through phenotypes
-
Deans AR, Lewis SE, Huala E, Anzaldo SS, Ashburner M, Balhoff JP, Blackburn DC, Blake JA, Burleigh JG, Chanet B, et al. Finding our way through phenotypes. PLoS Biol. 2015; 13(1):1002033.
-
(2015)
PLoS Biol
, vol.13
, Issue.1
, pp. 1002033
-
-
Deans, A.R.1
Lewis, S.E.2
Huala, E.3
Anzaldo, S.S.4
Ashburner, M.5
Balhoff, J.P.6
Blackburn, D.C.7
Blake, J.A.8
Burleigh, J.G.9
Chanet, B.10
-
9
-
-
84975266625
-
Dynamic environmental photosynthetic imaging reveals emergent phenotypes
-
Cruz JA, Savage LJ, Zegarac R, Hall CC, Satoh-Cruz M, Davis GA, Kovac WK, Chen J, Kramer DM. Dynamic environmental photosynthetic imaging reveals emergent phenotypes. Cell Syst. 2016; 2(6):365-77.
-
(2016)
Cell Syst
, vol.2
, Issue.6
, pp. 365-377
-
-
Cruz, J.A.1
Savage, L.J.2
Zegarac, R.3
Hall, C.C.4
Satoh-Cruz, M.5
Davis, G.A.6
Kovac, W.K.7
Chen, J.8
Kramer, D.M.9
-
10
-
-
85019683581
-
A novel method to measure the semantic similarity of HPO terms
-
Peng J, Xue H, Shao Y, Shang X, Wang Y, Chen J. A novel method to measure the semantic similarity of HPO terms. Int J Data Min Bioinform. 2017; 17(2):173-88.
-
(2017)
Int J Data Min Bioinform
, vol.17
, Issue.2
, pp. 173-188
-
-
Peng, J.1
Xue, H.2
Shao, Y.3
Shang, X.4
Wang, Y.5
Chen, J.6
-
11
-
-
84979523479
-
DisSim: an online system for exploring significant similar diseases and exhibiting potential therapeutic drugs[J]
-
Cheng L, Jiang Y, Wang Z, Shi H, Sun J, Yang H, Zhang S, Hu Y, Zhou M. DisSim: an online system for exploring significant similar diseases and exhibiting potential therapeutic drugs[J]. Sci Rep. 2016; 6:30024.
-
(2016)
Sci Rep.
, vol.6
, pp. 30024
-
-
Cheng, L.1
Jiang, Y.2
Wang, Z.3
Shi, H.4
Sun, J.5
Yang, H.6
Zhang, S.7
Hu, Y.8
Zhou, M.9
-
12
-
-
84872198906
-
A gene ontology inferred from molecular networks
-
Dutkowski J, Kramer M, Surma MA, Balakrishnan R, Cherry JM, Krogan NJ, Ideker T. A gene ontology inferred from molecular networks. Nat Biotechnol. 2013; 31(1):38-45.
-
(2013)
Nat Biotechnol
, vol.31
, Issue.1
, pp. 38-45
-
-
Dutkowski, J.1
Kramer, M.2
Surma, M.A.3
Balakrishnan, R.4
Cherry, J.M.5
Krogan, N.J.6
Ideker, T.7
-
13
-
-
84985916601
-
Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology:[J]
-
Hu Y, Zhou W, Ren J, Dong L, Wang Y, Jin S, Cheng L. Annotating the Function of the Human Genome with Gene Ontology and Disease Ontology:[J]. BioMed Res Int. 2016; 2016:4130861.
-
(2016)
BioMed Res Int.
, vol.2016
, pp. 4130861
-
-
Hu, Y.1
Zhou, W.2
Ren, J.3
Dong, L.4
Wang, Y.5
Jin, S.6
Cheng, L.7
-
14
-
-
0034069495
-
Gene ontology: tool for the unification of biology
-
Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, et al. Gene ontology: tool for the unification of biology. Nat Genet. 2000; 25(1):25-9.
-
(2000)
Nat Genet
, vol.25
, Issue.1
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Davis, A.P.7
Dolinski, K.8
Dwight, S.S.9
Eppig, J.T.10
-
15
-
-
84859699832
-
Disease ontology: a backbone for disease semantic integration
-
Schriml LM, Arze C, Nadendla S, Chang Y-WW, Mazaitis M, Felix V, Feng G, Kibbe WA. Disease ontology: a backbone for disease semantic integration. Nucleic Acids Res. 2012; 40(D1):940-6.
-
(2012)
Nucleic Acids Res
, vol.40
, Issue.D1
, pp. 940-946
-
-
Schriml, L.M.1
Arze, C.2
Nadendla, S.3
Chang, Y.-W.4
Mazaitis, M.5
Felix, V.6
Feng, G.7
Kibbe, W.A.8
-
16
-
-
84966570660
-
Extending gene ontology with gene association networks
-
Peng J, Wang T, Wang J, Wang Y, Chen J. Extending gene ontology with gene association networks. Bioinformatics. 2016; 32(8):1185-94.
-
(2016)
Bioinformatics
, vol.32
, Issue.8
, pp. 1185-1194
-
-
Peng, J.1
Wang, T.2
Wang, J.3
Wang, Y.4
Chen, J.5
-
17
-
-
84903289028
-
Semfunsim: a new method for measuring disease similarity by integrating semantic and gene functional association
-
Cheng L, Li J, Ju P, Peng J, Wang Y. Semfunsim: a new method for measuring disease similarity by integrating semantic and gene functional association. PloS one. 2014; 9(6):99415.
-
(2014)
PloS one
, vol.9
, Issue.6
, pp. 99415
-
-
Cheng, L.1
Li, J.2
Ju, P.3
Peng, J.4
Wang, Y.5
-
18
-
-
84984700595
-
InteGO2: a web tool for measuring and visualizing gene semantic similarities using Gene Ontology[J]
-
Peng J, Li H, Liu Y, Juan L, Jiang Q, Wang Y, Jin C. InteGO2: a web tool for measuring and visualizing gene semantic similarities using Gene Ontology[J]. BMC Genomics. 2016; 17(5):530.
-
(2016)
BMC Genomics
, vol.17
, Issue.5
, pp. 530
-
-
Peng, J.1
Li, H.2
Liu, Y.3
Juan, L.4
Jiang, Q.5
Wang, Y.6
Jin, C.7
-
19
-
-
84937523757
-
The human phenotype ontology: semantic unification of common and rare disease
-
Groza T, Köhler S, Moldenhauer D, Vasilevsky N, Baynam G, Zemojtel T, Schriml LM, Kibbe WA, Schofield PN, Beck T, et al. The human phenotype ontology: semantic unification of common and rare disease. Am J Human Genet. 2015; 97(1):111-24.
-
(2015)
Am J Human Genet
, vol.97
, Issue.1
, pp. 111-124
-
-
Groza, T.1
Köhler, S.2
Moldenhauer, D.3
Vasilevsky, N.4
Baynam, G.5
Zemojtel, T.6
Schriml, L.M.7
Kibbe, W.A.8
Schofield, P.N.9
Beck, T.10
-
20
-
-
84947907035
-
Next-generation diagnostics and disease-gene discovery with the exomiser
-
Smedley D, Jacobsen JO, Jäger M, Köhler S, Holtgrewe M, Schubach M, Siragusa E, Zemojtel T, Buske OJ, Washington NL, et al. Next-generation diagnostics and disease-gene discovery with the exomiser. Nat Protoc. 2015; 10(12):2004-15.
-
(2015)
Nat Protoc
, vol.10
, Issue.12
, pp. 2004-2015
-
-
Smedley, D.1
Jacobsen, J.O.2
Jäger, M.3
Köhler, S.4
Holtgrewe, M.5
Schubach, M.6
Siragusa, E.7
Zemojtel, T.8
Buske, O.J.9
Washington, N.L.10
-
21
-
-
84977754786
-
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
-
Bone WP, Washington NL, Buske OJ, Adams DR, Davis J, Draper D, Flynn ED, Girdea M, Godfrey R, Golas G, et al.Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency. Genet Med. 2015.
-
(2015)
Genet Med
-
-
Bone, W.P.1
Washington, N.L.2
Buske, O.J.3
Adams, D.R.4
Davis, J.5
Draper, D.6
Flynn, E.D.7
Girdea, M.8
Godfrey, R.9
Golas, G.10
-
22
-
-
84904445954
-
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
-
Masino AJ, Dechene ET, Dulik MC, Wilkens A, Spinner NB, Krantz ID, Pennington JW, Robinson PN, White PS. Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology. BMC Bioinforma. 2014; 15(1):1.
-
(2014)
BMC Bioinforma
, vol.15
, Issue.1
, pp. 1
-
-
Masino, A.J.1
Dechene, E.T.2
Dulik, M.C.3
Wilkens, A.4
Spinner, N.B.5
Krantz, I.D.6
Pennington, J.W.7
Robinson, P.N.8
White, P.S.9
-
23
-
-
84922593366
-
Hposim: an r package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology
-
Deng Y, Gao L, Wang B, Guo X. Hposim: an r package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology. PloS one. 2015; 10(2):0115692.
-
(2015)
PloS one
, vol.10
, Issue.2
, pp. 115692
-
-
Deng, Y.1
Gao, L.2
Wang, B.3
Guo, X.4
-
24
-
-
70350474767
-
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
-
Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Human Genet. 2009; 85(4):457-64.
-
(2009)
Am J Human Genet
, vol.85
, Issue.4
, pp. 457-464
-
-
Köhler, S.1
Schulz, M.H.2
Krawitz, P.3
Bauer, S.4
Dölken, S.5
Ott, C.E.6
Mundlos, C.7
Horn, D.8
Mundlos, S.9
Robinson, P.N.10
-
25
-
-
72949116593
-
Linking human diseases to animal models using ontology-based phenotype annotation
-
Washington NL, Haendel MA, Mungall CJ, Ashburner M, Westerfield M, Lewis SE. Linking human diseases to animal models using ontology-based phenotype annotation. PLoS Biol. 2009; 7(11):1000247.
-
(2009)
PLoS Biol
, vol.7
, Issue.11
, pp. 1000247
-
-
Washington, N.L.1
Haendel, M.A.2
Mungall, C.J.3
Ashburner, M.4
Westerfield, M.5
Lewis, S.E.6
-
26
-
-
85029765485
-
Oahg: an integrated resource for annotating human genes with multi-level ontologies
-
Liang C, Jie S, Wanying X, Lixiang D, Yang H, Meng Z. Oahg: an integrated resource for annotating human genes with multi-level ontologies. Sci Rep. 2016; 10:34820.
-
(2016)
Sci Rep
, vol.10
, pp. 34820
-
-
Liang, C.1
Wanying, X.2
Lixiang, D.3
Yang, H.4
Meng, Z.5
-
27
-
-
84924071510
-
Measuring semantic similarities by combining gene ontology annotations and gene co-function networks
-
Peng J, Uygun S, Kim T, Wang Y, Rhee SY, Chen J. Measuring semantic similarities by combining gene ontology annotations and gene co-function networks. BMC Bioinforma. 2015; 16(1):1.
-
(2015)
BMC Bioinforma
, vol.16
, Issue.1
, pp. 1
-
-
Peng, J.1
Uygun, S.2
Kim, T.3
Wang, Y.4
Rhee, S.Y.5
Chen, J.6
-
28
-
-
84878328074
-
Measuring gene functional similarity based on group-wise comparison of GO terms[J]
-
Teng Z, Guo M, Liu X, Dai Q, Wang C, Xuan P. Measuring gene functional similarity based on group-wise comparison of GO terms[J]. Bioinformatics. 2013; 29(11):1424-32.
-
(2013)
Bioinformatics
, vol.29
, Issue.11
, pp. 1424-1432
-
-
Teng, Z.1
Guo, M.2
Liu, X.3
Dai, Q.4
Wang, C.5
Xuan, P.6
-
29
-
-
84961595200
-
An integrative approach for measuring semantic similarities using gene ontology
-
Peng J, Li H, Jiang Q, Wang Y, Chen J. An integrative approach for measuring semantic similarities using gene ontology. BMC Sys Biol. 2014; 8(Suppl 5):8.
-
(2014)
BMC Sys Biol
, vol.8
, pp. 8
-
-
Peng, J.1
Li, H.2
Jiang, Q.3
Wang, Y.4
Chen, J.5
-
30
-
-
84905044212
-
Gossto: a stand-alone application and a web tool for calculating semantic similarities on the gene ontology
-
Caniza H, Romero AE, Heron S, Yang H, Devoto A, Frasca M, Mesiti M, Valentini G, Paccanaro A. Gossto: a stand-alone application and a web tool for calculating semantic similarities on the gene ontology. Bioinformatics. 2014; 30(15):2235-6.
-
(2014)
Bioinformatics
, vol.30
, Issue.15
, pp. 2235-2236
-
-
Caniza, H.1
Romero, A.E.2
Heron, S.3
Yang, H.4
Devoto, A.5
Frasca, M.6
Mesiti, M.7
Valentini, G.8
Paccanaro, A.9
-
31
-
-
84901254443
-
Towards integrative gene functional similarity measurement
-
Peng J, Wang Y, Chen J. Towards integrative gene functional similarity measurement. BMC Bioinforma. 2014; 15(2):1.
-
(2014)
BMC Bioinforma
, vol.15
, Issue.2
, pp. 1
-
-
Peng, J.1
Wang, Y.2
Chen, J.3
-
32
-
-
34447294237
-
A new method to measure the semantic similarity of go terms
-
Wang JZ, Du Z, Payattakool R, Philip SY, Chen CF. A new method to measure the semantic similarity of go terms. Bioinformatics. 2007; 23(10):1274-81.
-
(2007)
Bioinformatics
, vol.23
, Issue.10
, pp. 1274-1281
-
-
Wang, J.Z.1
Du, Z.2
Payattakool, R.3
Philip, S.Y.4
Chen, C.F.5
-
33
-
-
84884184167
-
Identifying cross-category relations in gene ontology and constructing genome-specific term association networks
-
Peng J, Chen J, Wang Y. Identifying cross-category relations in gene ontology and constructing genome-specific term association networks. BMC Bioinforma. 2013; 14(2):1.
-
(2013)
BMC Bioinforma
, vol.14
, Issue.2
, pp. 1
-
-
Peng, J.1
Chen, J.2
Wang, Y.3
-
34
-
-
84874298500
-
Assessing identity, redundancy and confounds in gene ontology annotations over time
-
Gillis J, Pavlidis P. Assessing identity, redundancy and confounds in gene ontology annotations over time. Bioinformatics. 2013; 29(4):476-82.
-
(2013)
Bioinformatics
, vol.29
, Issue.4
, pp. 476-482
-
-
Gillis, J.1
Pavlidis, P.2
-
35
-
-
84863693531
-
Quality of computationally inferred gene ontology annotations
-
Skunca N, Altenhoff A, Dessimoz C. Quality of computationally inferred gene ontology annotations. Plos Comput Biol. 2012; 8(5):1002533-1002533.
-
(2012)
Plos Comput Biol
, vol.8
, Issue.5
, pp. 1002533-1002533
-
-
Skunca, N.1
Altenhoff, A.2
Dessimoz, C.3
-
36
-
-
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. Online mendelian inheritance in man (omim), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005; 33(suppl 1):514-7.
-
(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
|