-
1
-
-
84855926937
-
The genetic architecture of schizophrenia: New mutations and emerging paradigms
-
Rodriguez-Murillo, L., Gogos, J.A. & Karayiorgou, M. The genetic architecture of schizophrenia: new mutations and emerging paradigms. Annu. Rev. Med. 63, 63-80 (2012).
-
(2012)
Annu. Rev. Med
, vol.63
, pp. 63-80
-
-
Rodriguez-Murillo, L.1
Gogos, J.A.2
Karayiorgou, M.3
-
2
-
-
0029102665
-
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11
-
Karayiorgou, M. et al. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc. Natl. Acad. Sci. USA 92, 7612-7616 (1995).
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 7612-7616
-
-
Karayiorgou, M.1
-
3
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
DOI 10.1038/ng.162, PII NG162
-
Xu, B. et al. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat. Genet. 40, 880-885 (2008). (Pubitemid 351913650)
-
(2008)
Nature Genetics
, vol.40
, Issue.7
, pp. 880-885
-
-
Xu, B.1
Roos, J.L.2
Levy, S.3
Van Rensburg, E.J.4
Gogos, J.A.5
Karayiorgou, M.6
-
4
-
-
84155191408
-
High frequencies of de novo CNVs in bipolar disorder and schizophrenia
-
Malhotra, D. et al. High frequencies of de novo CNVs in bipolar disorder and schizophrenia. Neuron 72, 951-963 (2011).
-
(2011)
Neuron
, vol.72
, pp. 951-963
-
-
Malhotra, D.1
-
5
-
-
84856225986
-
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
-
Kirov, G. et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol. Psychiatry 17, 142-153 (2012).
-
(2012)
Mol. Psychiatry
, vol.17
, pp. 142-153
-
-
Kirov, G.1
-
6
-
-
80052269336
-
Increased exonic de novo mutation rate in individuals with schizophrenia
-
Girard, S.L. et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat. Genet. 43, 860-863 (2011).
-
(2011)
Nat. Genet
, vol.43
, pp. 860-863
-
-
Girard, S.L.1
-
7
-
-
80052273655
-
Exome sequencing supports a de novo mutational paradigm for schizophrenia
-
Xu, B. et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat. Genet. 43, 864-868 (2011).
-
(2011)
Nat. Genet
, vol.43
, pp. 864-868
-
-
Xu, B.1
-
8
-
-
70349756961
-
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
-
Xu, B. et al. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc. Natl. Acad. Sci. USA 106, 16746-16751 (2009).
-
(2009)
Proc. Natl. Acad. Sci. USA
, vol.106
, pp. 16746-16751
-
-
Xu, B.1
-
9
-
-
34147116715
-
Most rare missense alleles are deleterious in humans: Implications for complex disease and association studies
-
DOI 10.1086/513473
-
Kryukov, G.V., Pennacchio, L.A. & Sunyaev, S.R. Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am. J. Hum. Genet. 80, 727-739 (2007). (Pubitemid 46564409)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.4
, pp. 727-739
-
-
Kryukov, G.V.1
Pennacchio, L.A.2
Sunyaev, S.R.3
-
10
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale, B.M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012).
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
-
11
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders, S.J. et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241 (2012).
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
-
12
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak, B.J. et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246-250 (2012).
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
-
13
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov, I. et al. De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012).
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
-
14
-
-
80054993342
-
Spatio-temporal transcriptome of the human brain
-
Kang, H.J. et al. Spatio-temporal transcriptome of the human brain. Nature 478, 483-489 (2011).
-
(2011)
Nature
, vol.478
, pp. 483-489
-
-
Kang, H.J.1
-
15
-
-
80055015161
-
Temporal dynamics and genetic control of transcription in the human prefrontal cortex
-
Colantuoni, C. et al. Temporal dynamics and genetic control of transcription in the human prefrontal cortex. Nature 478, 519-523 (2011).
-
(2011)
Nature
, vol.478
, pp. 519-523
-
-
Colantuoni, C.1
-
16
-
-
84855318240
-
Cognition in schizophrenia: Core psychological and neural mechanisms
-
Barch, D.M. & Ceaser, A. Cognition in schizophrenia: core psychological and neural mechanisms. Trends Cogn. Sci. 16, 27-34 (2012).
-
(2012)
Trends Cogn. Sci
, vol.16
, pp. 27-34
-
-
Barch, D.M.1
Ceaser, A.2
-
17
-
-
0346036019
-
A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorder
-
DOI 10.1016/S0165-1781(02)00321-9, PII S0165178102003219
-
Sobin, C., Roos, J.L., Pretorius, H., Lundy, L.S. & Karayiorgou, M. A comparison study of early non-psychotic deviant behavior in Afrikaner and US patients with schizophrenia or schizoaffective disorder. Psychiatry Res. 117, 113-125 (2003). (Pubitemid 36246707)
-
(2003)
Psychiatry Research
, vol.117
, Issue.2
, pp. 113-125
-
-
Sobin, C.1
Roos, J.L.2
Pretorius, H.3
Lundy, L.S.4
Karayiorgou, M.5
-
18
-
-
13544273916
-
Thrombospondins are astrocyte-secreted proteins that promote CNS synaptogenesis
-
DOI 10.1016/j.cell.2004.12.020
-
Christopherson, K.S. et al. Thrombospondins are astrocyte-secreted proteins that promote CNS synaptogenesis. Cell 120, 421-433 (2005). (Pubitemid 40222435)
-
(2005)
Cell
, vol.120
, Issue.3
, pp. 421-433
-
-
Christopherson, K.S.1
Ullian, E.M.2
Stokes, C.C.A.3
Mullowney, C.E.4
Hell, J.W.5
Agah, A.6
Lawler, J.7
Mosher, D.F.8
Bornstein, P.9
Barres, B.A.10
-
19
-
-
0032572754
-
Essential role of α6 integrins in cortical and retinal lamination
-
Georges-Labouesse, E., Mark, M., Messaddeq, N. & Gansmuller, A. Essential role of ?6 integrins in cortical and retinal lamination. Curr. Biol. 8, 983-986 (1998). (Pubitemid 28447951)
-
(1998)
Current Biology
, vol.8
, Issue.17
, pp. 983-986
-
-
Georges-Labouesse, E.1
Mark, M.2
Messaddeq, N.3
Gansmuller, A.4
-
20
-
-
0034795554
-
The expanding phenotype of laminin α2 chain (merosin) abnormalities: Case series and review
-
Jones, K.J. et al. The expanding phenotype of laminin ?2 chain (merosin) abnormalities: case series and review. J. Med. Genet. 38, 649-657 (2001). (Pubitemid 32946785)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.10
, pp. 649-657
-
-
Jones, K.J.1
Morgan, G.2
Johnston, H.3
Tobias, V.4
Ouvrier, R.A.5
Wilkinson, I.6
North, K.N.7
-
21
-
-
0032974922
-
Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
-
Van Kuilenburg, A.B. et al. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Hum. Genet. 104, 1-9 (1999). (Pubitemid 29134634)
-
(1999)
Human Genetics
, vol.104
, Issue.1
, pp. 1-9
-
-
Van Kuilenburg, A.B.P.1
Vreken, P.2
Abeling, N.G.G.M.3
Bakker, H.D.4
Meinsma, R.5
Van Lenthe, H.6
De Abreu, R.A.7
Smeitink, J.A.M.8
Kayserili, H.9
Apak, M.Y.10
Christensen, E.11
Holopainen, I.12
Pulkki, K.13
Riva, D.14
Botteon, G.15
Holme, E.16
Tulinius, M.17
Kleijer, W.J.18
Beemer, F.A.19
Duran, M.20
Niezen-Koning, K.E.21
Smit, G.P.A.22
Jakobs, C.23
Smit, L.M.E.24
Moog, U.25
Spaapen, L.J.M.26
Van Gennip, A.H.27
more..
-
22
-
-
77955095029
-
β-alanine as a small molecule neurotransmitter
-
Tiedje, K.E., Stevens, K., Barnes, S. & Weaver, D.F. β-alanine as a small molecule neurotransmitter. Neurochem. Int. 57, 177-188 (2010).
-
(2010)
Neurochem. Int
, vol.57
, pp. 177-188
-
-
Tiedje, K.E.1
Stevens, K.2
Barnes, S.3
Weaver, D.F.4
-
23
-
-
80052233376
-
Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression
-
Ben-David, E. et al. Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. Hum. Mol. Genet. 20, 3632-3641 (2011).
-
(2011)
Hum. Mol. Genet
, vol.20
, pp. 3632-3641
-
-
Ben-David, E.1
-
24
-
-
79959966462
-
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
-
Carter, M.T. et al. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clin. Genet. 80, 435-443 (2011).
-
(2011)
Clin. Genet
, vol.80
, pp. 435-443
-
-
Carter, M.T.1
-
25
-
-
84855996171
-
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
-
Willemsen, M.H. et al. Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. J. Med. Genet. 48, 810-818 (2011).
-
(2011)
J. Med. Genet
, vol.48
, pp. 810-818
-
-
Willemsen, M.H.1
-
26
-
-
80053384370
-
Genome-wide association study identifies five new schizophrenia loci
-
Ripke, S. et al. Genome-wide association study identifies five new schizophrenia loci. Nat. Genet. 43, 969-976 (2011).
-
(2011)
Nat. Genet
, vol.43
, pp. 969-976
-
-
Ripke, S.1
-
27
-
-
84855309347
-
Genetic and cognitive windows into circuit mechanisms of psychiatric disease
-
Arguello, P.A. & Gogos, J.A. Genetic and cognitive windows into circuit mechanisms of psychiatric disease. Trends Neurosci. 35, 3-13 (2012).
-
(2012)
Trends Neurosci
, vol.35
, pp. 3-13
-
-
Arguello, P.A.1
Gogos, J.A.2
-
28
-
-
61849169975
-
New directions in the epidemiology of schizophrenia
-
McGrath, J.J. & Susser, E.S. New directions in the epidemiology of schizophrenia. Med. J. Aust. 190, S7-S9 (2009).
-
(2009)
Med. J. Aust
, vol.190
-
-
McGrath, J.J.1
Susser, E.S.2
-
29
-
-
84870566781
-
Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
-
in the press
-
Gilman, S.R. et al. Diverse types of genetic variation converge on functional gene networks involved in schizophrenia. Nat. Neurosci. (in the press).
-
Nat. Neurosci
-
-
Gilman, S.R.1
-
30
-
-
43949124669
-
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
-
DOI 10.1038/ng.138, PII NG138
-
Stark, K.L. et al. Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model. Nat. Genet. 40, 751-760 (2008). (Pubitemid 351748862)
-
(2008)
Nature Genetics
, vol.40
, Issue.6
, pp. 751-760
-
-
Stark, K.L.1
Xu, B.2
Bagchi, A.3
Lai, W.-S.4
Liu, H.5
Hsu, R.6
Wan, X.7
Pavlidis, P.8
Mills, A.A.9
Karayiorgou, M.10
Gogos, J.A.11
-
31
-
-
84861535692
-
The best of times, the worst of times for psychiatric disease
-
Karayiorgou, M., Flint, J., Gogos, J.A. & Malenka, R.C. The best of times, the worst of times for psychiatric disease. Nat. Neurosci. 15, 811-812 (2012).
-
(2012)
Nat. Neurosci
, vol.15
, pp. 811-812
-
-
Karayiorgou, M.1
Flint, J.2
Gogos, J.A.3
Malenka, R.C.4
-
32
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A. et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
-
33
-
-
0016197604
-
Amino acid difference formula to help explain protein evolution
-
Grantham, R. Amino acid difference formula to help explain protein evolution. Science 185, 862-864 (1974).
-
(1974)
Science
, vol.185
, pp. 862-864
-
-
Grantham, R.1
-
34
-
-
66249120367
-
Human Splicing Finder: An online bioinformatics tool to predict splicing signals
-
Desmet, F.O. et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 37, e67 (2009).
-
(2009)
Nucleic Acids Res
, vol.37
-
-
Desmet, F.O.1
-
35
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
Huang, D.W., Sherman, B.T. & Lempicki, R.A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat. Protoc. 4, 44-57 (2009).
-
(2009)
Nat. Protoc
, vol.4
, pp. 44-57
-
-
Huang, D.W.1
Sherman, B.T.2
Lempicki, R.A.3
-
36
-
-
79851502150
-
Proteins encoded in genomic regions associated with immunemediated disease physically interact and suggest underlying biology
-
Rossin, E.J. et al. Proteins encoded in genomic regions associated with immunemediated disease physically interact and suggest underlying biology. PLoS Genet. 7, e1001273 (2011).
-
(2011)
PLoS Genet
, vol.7
-
-
Rossin, E.J.1
|