-
1
-
-
33746326504
-
Bioinformatics methods for identifying candidate disease genes
-
van Driel MA, Brunner HG (2006) Bioinformatics methods for identifying candidate disease genes. Hum Genomics 2: 429-432.
-
(2006)
Hum Genomics
, vol.2
, pp. 429-432
-
-
van Driel, M.A.1
Brunner, H.G.2
-
2
-
-
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
-
3
-
-
0742305866
-
Network biology: Understanding the cell's functional organization
-
Barabasi AL, Oltvai ZN (2004) Network biology: understanding the cell's functional organization. Nat Rev Genet 5: 101-113.
-
(2004)
Nat Rev Genet
, vol.5
, pp. 101-113
-
-
Barabasi, A.L.1
Oltvai, Z.N.2
-
4
-
-
33845545435
-
The modular nature of genetic diseases
-
Oti M, Brunner HG (2007) The modular nature of genetic diseases. Clin Genet 71: 1-11.
-
(2007)
Clin Genet
, vol.71
, pp. 1-11
-
-
Oti, M.1
Brunner, H.G.2
-
5
-
-
33646884801
-
Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes
-
Franke L, Bakel H, Fokkens L, de Jong ED, Egmont-Petersen M, et al. (2006) Reconstruction of a functional human gene network, with an application for prioritizing positional candidate genes. Am J Hum Genet 78: 1011-1025.
-
(2006)
Am J Hum Genet
, vol.78
, pp. 1011-1025
-
-
Franke, L.1
Bakel, H.2
Fokkens, L.3
de Jong, E.D.4
Egmont-Petersen, M.5
-
6
-
-
1542787787
-
POCUS: Mining genomic sequence annotation to predict disease genes
-
Turner FS, Clutterbuck DR, Semple CA (2003) POCUS: mining genomic sequence annotation to predict disease genes. Genome Biol 4: R75.
-
(2003)
Genome Biol
, vol.4
-
-
Turner, F.S.1
Clutterbuck, D.R.2
Semple, C.A.3
-
7
-
-
0036649742
-
Association of genes to genetically inherited diseases using data mining
-
Perez-Iratxeta C, Bork P, Andrade MA (2002) Association of genes to genetically inherited diseases using data mining. Nat Genet 31: 316-319.
-
(2002)
Nat Genet
, vol.31
, pp. 316-319
-
-
Perez-Iratxeta, C.1
Bork, P.2
Andrade, M.A.3
-
8
-
-
33947095027
-
A human phenome-interactome network of protein complexes implicated in genetic disorders
-
Lage K, Karlberg EO, Storling ZM, Olason PI, Pedersen AG, et al. (2007) A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 25: 309-316.
-
(2007)
Nat Biotechnol
, vol.25
, pp. 309-316
-
-
Lage, K.1
Karlberg, E.O.2
Storling, Z.M.3
Olason, P.I.4
Pedersen, A.G.5
-
9
-
-
0037161731
-
Comparative assessment of large-scale data sets of protein-protein interactions
-
von Mering C, Krause R, Snel B, Cornell M, Oliver SG, et al. (2002) Comparative assessment of large-scale data sets of protein-protein interactions. Nature 417: 399-403.
-
(2002)
Nature
, vol.417
, pp. 399-403
-
-
von Mering, C.1
Krause, R.2
Snel, B.3
Cornell, M.4
Oliver, S.G.5
-
10
-
-
33747035889
-
Predicting disease genes using protein-protein interactions
-
Oti M, Snel B, Huynen MA, Brunner HG (2006) Predicting disease genes using protein-protein interactions. J Med Genet 43: 691-698.
-
(2006)
J Med Genet
, vol.43
, pp. 691-698
-
-
Oti, M.1
Snel, B.2
Huynen, M.A.3
Brunner, H.G.4
-
12
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, et al. (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A 100: 605-610.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
Bunkenborg, J.4
Reich, M.5
-
13
-
-
33747814487
-
TOM: A web-based integrated approach for identification of candidate disease genes
-
Rossi S, Masotti D, Nardini C, Bonora E, Romeo G, et al. (2006) TOM: a web-based integrated approach for identification of candidate disease genes. Nucleic Acids Res 34: W285-292.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Rossi, S.1
Masotti, D.2
Nardini, C.3
Bonora, E.4
Romeo, G.5
-
14
-
-
0003328368
-
Evidence for large domains of similarly expressed genes in the Drosophila genome
-
Spellman P, Rubin G (2002) Evidence for large domains of similarly expressed genes in the Drosophila genome. J Biol 1: 5.
-
(2002)
J Biol
, vol.1
, pp. 5
-
-
Spellman, P.1
Rubin, G.2
-
15
-
-
1842486262
-
Inter-species differences of coexpression of neighboring genes in eukaryotic genomes
-
Fukuoka Y, Inaoka H, Kohane IS (2004) Inter-species differences of coexpression of neighboring genes in eukaryotic genomes. BMC Genomics 5: 4.
-
(2004)
BMC Genomics
, vol.5
, pp. 4
-
-
Fukuoka, Y.1
Inaoka, H.2
Kohane, I.S.3
-
16
-
-
13244255460
-
CLOE: Identification of putative functional relationships among genes by comparison of expression profiles between two species
-
Pellegrino M, Provero P, Silengo L, Di Cunto F (2004) CLOE: identification of putative functional relationships among genes by comparison of expression profiles between two species. BMC Bioinformatics 5: 179.
-
(2004)
BMC Bioinformatics
, vol.5
, pp. 179
-
-
Pellegrino, M.1
Provero, P.2
Silengo, L.3
Di Cunto, F.4
-
17
-
-
0141993704
-
A Gene-Coexpression Network for Global Discovery of Conserved Genetic Modules
-
Stuart JM, Segal E, Koller D, Kim SK (2003) A Gene-Coexpression Network for Global Discovery of Conserved Genetic Modules. Science 302: 249-255.
-
(2003)
Science
, vol.302
, pp. 249-255
-
-
Stuart, J.M.1
Segal, E.2
Koller, D.3
Kim, S.K.4
-
18
-
-
0037249405
-
The Stanford Microarray Database: Data access and quality assessment tools
-
Gollub J, Ball CA, Binkley G, Demeter J, Finkelstein DB, et al. (2003) The Stanford Microarray Database: data access and quality assessment tools. Nucleic Acids Res 31: 94-96.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 94-96
-
-
Gollub, J.1
Ball, C.A.2
Binkley, G.3
Demeter, J.4
Finkelstein, D.B.5
-
19
-
-
33646429798
-
Gene expression analyses reveal molecular relationships among 20 regions of the human CNS
-
Roth RB, Hevezi P, Lee J, Willhite D, Lechner SM, et al. (2006) Gene expression analyses reveal molecular relationships among 20 regions of the human CNS. Neurogenetics 7: 67-80.
-
(2006)
Neurogenetics
, vol.7
, pp. 67-80
-
-
Roth, R.B.1
Hevezi, P.2
Lee, J.3
Willhite, D.4
Lechner, S.M.5
-
20
-
-
11144358198
-
A gene atlas of the mouse and human protein-encoding transcriptomes
-
Su AI, Wiltshire T, Batalov S, Lapp H, Ching KA, et al. (2004) A gene atlas of the mouse and human protein-encoding transcriptomes. Proc Natl Acad Sci U S A 101: 6062-6067.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 6062-6067
-
-
Su, A.I.1
Wiltshire, T.2
Batalov, S.3
Lapp, H.4
Ching, K.A.5
-
22
-
-
33646058032
-
A text-mining analysis of the human phenome
-
van Driel MA, Bruggeman J, Vriend G, Brunner HG, Leunissen JA (2006) A text-mining analysis of the human phenome. Eur J Hum Genet 14: 535-542.
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 535-542
-
-
van Driel, M.A.1
Bruggeman, J.2
Vriend, G.3
Brunner, H.G.4
Leunissen, J.A.5
-
23
-
-
10744224197
-
Development of human protein reference database as an initial platform for approaching systems biology in humans
-
Peri S, Navarro JD, Amanchy R, Kristiansen TZ, Jonnalagadda CK, et al. (2003) Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res 13: 2363-2371.
-
(2003)
Genome Res
, vol.13
, pp. 2363-2371
-
-
Peri, S.1
Navarro, J.D.2
Amanchy, R.3
Kristiansen, T.Z.4
Jonnalagadda, C.K.5
-
24
-
-
33644877439
-
Human protein reference database-2006 update
-
Mishra GR, Suresh M, Kumaran K, Kannabiran N, Suresh S, et al. (2006) Human protein reference database-2006 update. Nucleic Acids Res 34: D411-D414.
-
(2006)
Nucleic Acids Res
, vol.34
-
-
Mishra, G.R.1
Suresh, M.2
Kumaran, K.3
Kannabiran, N.4
Suresh, S.5
-
25
-
-
33846039019
-
-
Hubbard TJ, Aken BL, Beal K, Ballester B, Caccamo M, et al. (2007) Ensembl 2007. Nucleic Acids Res 35: D610-D617.
-
(2007)
Ensembl 2007. Nucleic Acids Res
, vol.35
-
-
Hubbard, T.J.1
Aken, B.L.2
Beal, K.3
Ballester, B.4
Caccamo, M.5
-
26
-
-
6344241652
-
Conservation and coevolution in the scale-free human gene coexpression network
-
Jordan IK, Marino-Ramirez L, Wolf YI, Koonin EV (2004) Conservation and coevolution in the scale-free human gene coexpression network. Mol Biol Evol 21: 2058-2070.
-
(2004)
Mol Biol Evol
, vol.21
, pp. 2058-2070
-
-
Jordan, I.K.1
Marino-Ramirez, L.2
Wolf, Y.I.3
Koonin, E.V.4
-
27
-
-
0037443035
-
Pre-mRNA splicing and human disease
-
Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17: 419-437.
-
(2003)
Genes Dev
, vol.17
, pp. 419-437
-
-
Faustino, N.A.1
Cooper, T.A.2
-
28
-
-
18144386947
-
Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution
-
Pagani F, Raponi M, Baralle FE (2005) Synonymous mutations in CFTR exon 12 affect splicing and are not neutral in evolution. Proc Natl Acad Sci U S A 102: 6368-6372.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 6368-6372
-
-
Pagani, F.1
Raponi, M.2
Baralle, F.E.3
-
29
-
-
0037177892
-
Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4
-
Morohashi Y, Hatano N, Ohya S, Takikawa R, Watabiki T, et al. (2002) Molecular cloning and characterization of CALP/KChIP4, a novel EF-hand protein interacting with presenilin 2 and voltage-gated potassium channel subunit Kv4. J Biol Chem 277: 14965-14975.
-
(2002)
J Biol Chem
, vol.277
, pp. 14965-14975
-
-
Morohashi, Y.1
Hatano, N.2
Ohya, S.3
Takikawa, R.4
Watabiki, T.5
-
30
-
-
2942588558
-
Structure and function of Kv4-family transient potassium channels
-
Birnbaum SG, Varga AW, Yuan LL, Anderson AE, Sweatt JD, et al. (2004) Structure and function of Kv4-family transient potassium channels. Physiol Rev 84: 803-833.
-
(2004)
Physiol Rev
, vol.84
, pp. 803-833
-
-
Birnbaum, S.G.1
Varga, A.W.2
Yuan, L.L.3
Anderson, A.E.4
Sweatt, J.D.5
-
31
-
-
33750017572
-
A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy
-
Singh B, Ogiwara I, Kaneda M, Tokonami N, Mazaki E, et al. (2006) A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy. Neurobiol Dis 24: 245-253.
-
(2006)
Neurobiol Dis
, vol.24
, pp. 245-253
-
-
Singh, B.1
Ogiwara, I.2
Kaneda, M.3
Tokonami, N.4
Mazaki, E.5
-
32
-
-
0036150971
-
The synucleins
-
REVIEWS3002
-
George JM (2002) The synucleins. Genome Biol 3: REVIEWS3002.
-
(2002)
Genome Biol
, vol.3
-
-
George, J.M.1
-
33
-
-
0017902823
-
Alpha2-macroglobulin deficiency in a patient with Ehlers-Danlos syndrome
-
Mahour GH, Song MK, Adham NF, Rinderknecht H (1978) Alpha2-macroglobulin deficiency in a patient with Ehlers-Danlos syndrome. Pediatrics 61: 894-897.
-
(1978)
Pediatrics
, vol.61
, pp. 894-897
-
-
Mahour, G.H.1
Song, M.K.2
Adham, N.F.3
Rinderknecht, H.4
-
34
-
-
0031797459
-
Tetraspanin CD9 is associated with very late-acting integrins in human vascular smooth muscle cells and modulates collagen matrix reorganization
-
Scherberich A, Moog S, Haan-Archipoff G, Azorsa DO, Lanza F, et al. (1998) Tetraspanin CD9 is associated with very late-acting integrins in human vascular smooth muscle cells and modulates collagen matrix reorganization. Arterioscler Thromb Vasc Biol 18: 1691-1697.
-
(1998)
Arterioscler Thromb Vasc Biol
, vol.18
, pp. 1691-1697
-
-
Scherberich, A.1
Moog, S.2
Haan-Archipoff, G.3
Azorsa, D.O.4
Lanza, F.5
-
36
-
-
0037580196
-
A similarity-based method for genome-wide prediction of disease-relevant human genes
-
Freudenberg J, Propping P (2002) A similarity-based method for genome-wide prediction of disease-relevant human genes. Bioinformatics 18 Suppl 2: S110-115.
-
(2002)
Bioinformatics
, vol.18
, Issue.SUPPL. 2
-
-
Freudenberg, J.1
Propping, P.2
-
37
-
-
25444482801
-
Speeding disease gene discovery by sequence based candidate prioritization
-
Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS (2005) Speeding disease gene discovery by sequence based candidate prioritization. BMC Bioinformatics 6: 55.
-
(2005)
BMC Bioinformatics
, vol.6
, pp. 55
-
-
Adie, E.A.1
Adams, R.R.2
Evans, K.L.3
Porteous, D.J.4
Pickard, B.S.5
-
38
-
-
34447253042
-
Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects
-
Leoyklang P, Suphapeetiporn K, Siriwan P, Desudchit T, Chaowanapanja P, et al. (2007) Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. Hum Mutat 28: 732-738.
-
(2007)
Hum Mutat
, vol.28
, pp. 732-738
-
-
Leoyklang, P.1
Suphapeetiporn, K.2
Siriwan, P.3
Desudchit, T.4
Chaowanapanja, P.5
-
39
-
-
0027313278
-
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect
-
Sudbrak R, Golla A, Hogan K, Powers P, Gregg R, et al. (1993) Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect. Hum Mol Genet 2: 857-862.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 857-862
-
-
Sudbrak, R.1
Golla, A.2
Hogan, K.3
Powers, P.4
Gregg, R.5
-
40
-
-
0347362524
-
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations
-
Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, et al. (2003) Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73: 1240-1249.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1240-1249
-
-
Eerola, I.1
Boon, L.M.2
Mulliken, J.B.3
Burrows, P.E.4
Dompmartin, A.5
-
41
-
-
0033941102
-
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia
-
Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, et al. (2000) Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet 66: 1736-1743.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1736-1743
-
-
Sacksteder, K.A.1
Biery, B.J.2
Morrell, J.C.3
Goodman, B.K.4
Geisbrecht, B.V.5
-
42
-
-
17344373749
-
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: A new X linked contiguous gene deletion syndrome?
-
Jonsson JJ, Renieri A, Gallagher PG, Kashtan CE, Cherniske EM, et al. (1998) Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? J Med Genet 35: 273-278.
-
(1998)
J Med Genet
, vol.35
, pp. 273-278
-
-
Jonsson, J.J.1
Renieri, A.2
Gallagher, P.G.3
Kashtan, C.E.4
Cherniske, E.M.5
-
43
-
-
0037313712
-
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance
-
Udar N, Yelchits S, Chalukya M, Yellore V, Nusinowitz S, et al. (2003) Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. Hum Mutat 21: 170-171.
-
(2003)
Hum Mutat
, vol.21
, pp. 170-171
-
-
Udar, N.1
Yelchits, S.2
Chalukya, M.3
Yellore, V.4
Nusinowitz, S.5
-
44
-
-
0030669568
-
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor
-
Freund CL, Gregory-Evans CY, Furukawa T, Papaioannou M, Looser J, et al. (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. Cell 91: 543-553.
-
(1997)
Cell
, vol.91
, pp. 543-553
-
-
Freund, C.L.1
Gregory-Evans, C.Y.2
Furukawa, T.3
Papaioannou, M.4
Looser, J.5
-
45
-
-
0033858589
-
Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC)
-
Moulard B, Buresi C, Malafosse A (2000) Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). Hum Mutat 16: 139-142.
-
(2000)
Hum Mutat
, vol.16
, pp. 139-142
-
-
Moulard, B.1
Buresi, C.2
Malafosse, A.3
-
46
-
-
22544478749
-
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
-
Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, et al. (2005) A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 77: 297-304.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 297-304
-
-
Vorgerd, M.1
van der Ven, P.F.2
Bruchertseifer, V.3
Lowe, T.4
Kley, R.A.5
-
47
-
-
0035168177
-
A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16
-
Sylvius N, Tesson F, Gayet C, Charron P, Benaiche A, et al. (2001) A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16. Am J Hum Genet 68: 241-246.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 241-246
-
-
Sylvius, N.1
Tesson, F.2
Gayet, C.3
Charron, P.4
Benaiche, A.5
-
48
-
-
8244240433
-
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity
-
Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, et al. (1997) Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. Hum Mol Genet 6: 635-640.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 635-640
-
-
Christodoulou, K.1
Tsingis, M.2
Deymeer, F.3
Serdaroglu, P.4
Ozdemir, C.5
-
49
-
-
18244373461
-
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome
-
Garcia-Ortiz JE, Banda-Espinoza F, Zenteno JC, Galvan-Uriarte LM, Ruiz-Flores P, et al. (2005) Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. Am J Med Genet A 135: 21-27.
-
(2005)
Am J Med Genet
, vol.A 135
, pp. 21-27
-
-
Garcia-Ortiz, J.E.1
Banda-Espinoza, F.2
Zenteno, J.C.3
Galvan-Uriarte, L.M.4
Ruiz-Flores, P.5
|