-
1
-
-
0034060459
-
Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics
-
Cardno A.G., and Gottesman I.I. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am. J. Med. Genet. 97 (2000) 12-17
-
(2000)
Am. J. Med. Genet.
, vol.97
, pp. 12-17
-
-
Cardno, A.G.1
Gottesman, I.I.2
-
2
-
-
33847759937
-
Schizophrenia: a common disease caused by multiple rare alleles
-
McClellan J.M., et al. Schizophrenia: a common disease caused by multiple rare alleles. Br. J. Psychiatry 190 (2007) 194-199
-
(2007)
Br. J. Psychiatry
, vol.190
, pp. 194-199
-
-
McClellan, J.M.1
-
3
-
-
33847765853
-
Phenotypic and genetic complexity of psychosis. Invited commentary on . . . Schizophrenia: a common disease caused by multiple rare alleles
-
Craddock N., et al. Phenotypic and genetic complexity of psychosis. Invited commentary on . . . Schizophrenia: a common disease caused by multiple rare alleles. Br. J. Psychiatry 190 (2007) 200-203
-
(2007)
Br. J. Psychiatry
, vol.190
, pp. 200-203
-
-
Craddock, N.1
-
4
-
-
21344449777
-
"A gene for..": the nature of gene action in psychiatric disorders
-
Kendler K.S. "A gene for..": the nature of gene action in psychiatric disorders. Am. J. Psychiatry 162 (2005) 1243-1252
-
(2005)
Am. J. Psychiatry
, vol.162
, pp. 1243-1252
-
-
Kendler, K.S.1
-
5
-
-
54249115678
-
The emperors of the schizophrenia polygene have no clothes
-
Crow T.J. The emperors of the schizophrenia polygene have no clothes. Psychol. Med. 38 (2008) 1681-1685
-
(2008)
Psychol. Med.
, vol.38
, pp. 1681-1685
-
-
Crow, T.J.1
-
6
-
-
45749158144
-
Psychiatric genetics: progress amid controversy
-
Burmeister M., et al. Psychiatric genetics: progress amid controversy. Nat. Rev. Genet. 9 (2008) 527-540
-
(2008)
Nat. Rev. Genet.
, vol.9
, pp. 527-540
-
-
Burmeister, M.1
-
7
-
-
43349097737
-
No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics
-
Sanders A.R., et al. No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics. Am. J. Psychiatry 165 (2008) 497-506
-
(2008)
Am. J. Psychiatry
, vol.165
, pp. 497-506
-
-
Sanders, A.R.1
-
8
-
-
43949122950
-
Genomewide association for schizophrenia in the CATIE study: results of stage 1
-
Sullivan P.F., et al. Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol. Psychiatry 13 (2008) 570-584
-
(2008)
Mol. Psychiatry
, vol.13
, pp. 570-584
-
-
Sullivan, P.F.1
-
9
-
-
67651180973
-
A genome-wide association study in 574 schizophrenia trios using DNA pooling
-
Kirov G., et al. A genome-wide association study in 574 schizophrenia trios using DNA pooling. Mol. Psychiatry 14 (2009) 796-803
-
(2009)
Mol. Psychiatry
, vol.14
, pp. 796-803
-
-
Kirov, G.1
-
10
-
-
40149105889
-
Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women
-
Shifman S., et al. Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women. PLoS Genet. 4 (2008) e28
-
(2008)
PLoS Genet.
, vol.4
-
-
Shifman, S.1
-
11
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T., et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320 (2008) 539-543
-
(2008)
Science
, vol.320
, pp. 539-543
-
-
Walsh, T.1
-
12
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
Consortium TIS. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455 (2008) 237-241
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
Consortium TIS1
-
13
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H., et al. Large recurrent microdeletions associated with schizophrenia. Nature 455 (2008) 232-236
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
-
14
-
-
60549106509
-
Disruption of the neurexin 1 gene is associated with schizophrenia
-
Rujescu D., et al. Disruption of the neurexin 1 gene is associated with schizophrenia. Hum. Mol. Genet. 18 (2009) 988-996
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 988-996
-
-
Rujescu, D.1
-
15
-
-
64549147485
-
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
-
Kirov G., et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum. Mol. Genet. 18 (2009) 1497-1503
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 1497-1503
-
-
Kirov, G.1
-
16
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
Purcell S.M., et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460 (2009) 748-752
-
(2009)
Nature
, vol.460
, pp. 748-752
-
-
Purcell, S.M.1
-
17
-
-
68449090594
-
Common variants conferring risk of schizophrenia
-
Stefansson H., et al. Common variants conferring risk of schizophrenia. Nature 460 (2009) 744-747
-
(2009)
Nature
, vol.460
, pp. 744-747
-
-
Stefansson, H.1
-
18
-
-
68449096727
-
Common variants on chromosome 6p22.1 are associated with schizophrenia
-
Shi J., et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 460 (2009) 753-757
-
(2009)
Nature
, vol.460
, pp. 753-757
-
-
Shi, J.1
-
19
-
-
50449100461
-
Identification of loci associated with schizophrenia by genome-wide association and follow-up
-
O'Donovan M.C., et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat. Genet. 40 (2008) 1053-1055
-
(2008)
Nat. Genet.
, vol.40
, pp. 1053-1055
-
-
O'Donovan, M.C.1
-
20
-
-
31144469134
-
Structural variation in the human genome
-
Feuk L., et al. Structural variation in the human genome. Nat. Rev. Genet. 7 (2006) 85-97
-
(2006)
Nat. Rev. Genet.
, vol.7
, pp. 85-97
-
-
Feuk, L.1
-
21
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate A.J., et al. Detection of large-scale variation in the human genome. Nat. Genet. 36 (2004) 949-951
-
(2004)
Nat. Genet.
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
-
22
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J., et al. Large-scale copy number polymorphism in the human genome. Science 305 (2004) 525-528
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
-
23
-
-
34347349069
-
Genomic rearrangements and sporadic disease
-
Lupski J.R. Genomic rearrangements and sporadic disease. Nat. Genet. 39 (2007) S43-S47
-
(2007)
Nat. Genet.
, vol.39
-
-
Lupski, J.R.1
-
24
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R., et al. Global variation in copy number in the human genome. Nature 444 (2006) 444-454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
-
25
-
-
22844451617
-
Fine-scale structural variation of the human genome
-
Tuzun E., et al. Fine-scale structural variation of the human genome. Nat. Genet. 37 (2005) 727-732
-
(2005)
Nat. Genet.
, vol.37
, pp. 727-732
-
-
Tuzun, E.1
-
26
-
-
34248525150
-
Completing the map of human genetic variation
-
Eichler E.E., et al. Completing the map of human genetic variation. Nature 447 (2007) 161-165
-
(2007)
Nature
, vol.447
, pp. 161-165
-
-
Eichler, E.E.1
-
27
-
-
42649084334
-
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
-
Ji W., et al. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat. Genet. 40 (2008) 592-599
-
(2008)
Nat. Genet.
, vol.40
, pp. 592-599
-
-
Ji, W.1
-
28
-
-
34147154100
-
Medical sequencing at the extremes of human body mass
-
Ahituv N., et al. Medical sequencing at the extremes of human body mass. Am. J. Hum. Genet. 80 (2007) 779-791
-
(2007)
Am. J. Hum. Genet.
, vol.80
, pp. 779-791
-
-
Ahituv, N.1
-
29
-
-
39049097331
-
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas
-
Azzopardi D., et al. Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Res. 68 (2008) 358-363
-
(2008)
Cancer Res.
, vol.68
, pp. 358-363
-
-
Azzopardi, D.1
-
30
-
-
44349132708
-
Common and rare variants in multifactorial susceptibility to common diseases
-
Bodmer W., and Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 40 (2008) 695-701
-
(2008)
Nat. Genet.
, vol.40
, pp. 695-701
-
-
Bodmer, W.1
Bonilla, C.2
-
31
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
Cohen J.C., et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305 (2004) 869-872
-
(2004)
Science
, vol.305
, pp. 869-872
-
-
Cohen, J.C.1
-
32
-
-
32444441330
-
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels
-
Cohen J.C., et al. Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc. Natl. Acad. Sci. U. S. A. 103 (2006) 1810-1815
-
(2006)
Proc. Natl. Acad. Sci. U. S. A.
, vol.103
, pp. 1810-1815
-
-
Cohen, J.C.1
-
33
-
-
8644235804
-
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas
-
Fearnhead N.S., et al. Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 15992-15997
-
(2004)
Proc. Natl. Acad. Sci. U. S. A.
, vol.101
, pp. 15992-15997
-
-
Fearnhead, N.S.1
-
34
-
-
25444443671
-
Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model
-
Fearnhead N.S., et al. Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model. Cell Cycle 4 (2005) 521-525
-
(2005)
Cell Cycle
, vol.4
, pp. 521-525
-
-
Fearnhead, N.S.1
-
35
-
-
67149117126
-
Discovery of Rare Variants via Sequencing: Implications for Association Studies
-
Li B., and Leal S.M. Discovery of Rare Variants via Sequencing: Implications for Association Studies. PLoS Genet. 5 (2008) e1000481
-
(2008)
PLoS Genet.
, vol.5
-
-
Li, B.1
Leal, S.M.2
-
36
-
-
46249093584
-
Strong association of de novo copy number mutations with sporadic schizophrenia
-
Xu B., et al. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat. Genet. 40 (2008) 880-885
-
(2008)
Nat. Genet.
, vol.40
, pp. 880-885
-
-
Xu, B.1
-
37
-
-
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. U. S. A. 92 (1995) 7612-7616
-
(1995)
Proc. Natl. Acad. Sci. U. S. A.
, vol.92
, pp. 7612-7616
-
-
Karayiorgou, M.1
-
38
-
-
0034702026
-
Disruption of two novel genes by a translocation co-segregating with schizophrenia
-
Millar J.K., et al. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum. Mol. Genet. 9 (2000) 1415-1423
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 1415-1423
-
-
Millar, J.K.1
-
39
-
-
27944502874
-
DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling
-
Millar J.K., et al. DISC1 and PDE4B are interacting genetic factors in schizophrenia that regulate cAMP signaling. Science 310 (2005) 1187-1191
-
(2005)
Science
, vol.310
, pp. 1187-1191
-
-
Millar, J.K.1
-
40
-
-
21444461075
-
Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability
-
Pickard B.S., et al. Disruption of a brain transcription factor, NPAS3, is associated with schizophrenia and learning disability. Am. J. Med. Genet. B 136 (2005) 26-32
-
(2005)
Am. J. Med. Genet. B
, vol.136
, pp. 26-32
-
-
Pickard, B.S.1
-
41
-
-
37449007716
-
The DISC locus in psychiatric illness
-
Chubb J.E., et al. The DISC locus in psychiatric illness. Mol. Psychiatry 13 (2008) 36-64
-
(2008)
Mol. Psychiatry
, vol.13
, pp. 36-64
-
-
Chubb, J.E.1
-
42
-
-
34147203757
-
A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment
-
Ousley O., et al. A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment. Curr. Psychiatry Rep. 9 (2007) 148-158
-
(2007)
Curr. Psychiatry Rep.
, vol.9
, pp. 148-158
-
-
Ousley, O.1
-
43
-
-
0141994858
-
Genomic microarrays in human genetic disease and cancer
-
Albertson D.G., and Pinkel D. Genomic microarrays in human genetic disease and cancer. Hum. Mol. Genet. 12 (2003) R145-R152
-
(2003)
Hum. Mol. Genet.
, vol.12
-
-
Albertson, D.G.1
Pinkel, D.2
-
44
-
-
10744231187
-
Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation
-
Lucito R., et al. Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res. 13 (2003) 2291-2305
-
(2003)
Genome Res.
, vol.13
, pp. 2291-2305
-
-
Lucito, R.1
-
45
-
-
13844250828
-
Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors
-
Pollack J.R., et al. Microarray analysis reveals a major direct role of DNA copy number alteration in the transcriptional program of human breast tumors. Proc. Natl. Acad. Sci. U. S. A. 99 (2002) 12963-12968
-
(2002)
Proc. Natl. Acad. Sci. U. S. A.
, vol.99
, pp. 12963-12968
-
-
Pollack, J.R.1
-
46
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C., et al. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J. Med. Genet. 41 (2004) 241-248
-
(2004)
J. Med. Genet.
, vol.41
, pp. 241-248
-
-
Shaw-Smith, C.1
-
47
-
-
62849092230
-
Singleton deletions throughout the genome increase risk of bipolar disorder
-
Zhang D., et al. Singleton deletions throughout the genome increase risk of bipolar disorder. Mol. Psychiatry 14 (2009) 376-380
-
(2009)
Mol. Psychiatry
, vol.14
, pp. 376-380
-
-
Zhang, D.1
-
48
-
-
51949088773
-
A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population
-
Shi Y.Y., et al. A study of rare structural variants in schizophrenia patients and normal controls from Chinese Han population. Mol. Psychiatry 13 (2008) 911-913
-
(2008)
Mol. Psychiatry
, vol.13
, pp. 911-913
-
-
Shi, Y.Y.1
-
49
-
-
61449229353
-
A genome-wide investigation of SNPs and CNVs in schizophrenia
-
Need A.C., et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 5 (2009) e1000373
-
(2009)
PLoS Genet.
, vol.5
-
-
Need, A.C.1
-
50
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J., et al. Strong association of de novo copy number mutations with autism. Science 316 (2007) 445-449
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
-
51
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall C.R., et al. Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet. 82 (2008) 477-488
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
-
52
-
-
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. U. S. A. 106 (2009) 16746-16751
-
(2009)
Proc. Natl. Acad. Sci. U. S. A.
, vol.106
, pp. 16746-16751
-
-
Xu, B.1
-
53
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
Oct 25, Epub ahead of print
-
McCarthy, S. et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009 Oct 25. [Epub ahead of print]
-
(2009)
Nat Genet
-
-
McCarthy, S.1
-
54
-
-
70449697530
-
-
Ingason, A. et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol. Psychiatry 2009 Sep 29. [Epub ahead of print]
-
Ingason, A. et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol. Psychiatry 2009 Sep 29. [Epub ahead of print]
-
-
-
-
55
-
-
38349106160
-
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
-
Kirov G., et al. Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum. Mol. Genet. 17 (2008) 458-465
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 458-465
-
-
Kirov, G.1
-
56
-
-
39449121016
-
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
-
Friedman J.I., et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol. Psychiatry 13 (2008) 261-266
-
(2008)
Mol. Psychiatry
, vol.13
, pp. 261-266
-
-
Friedman, J.I.1
-
57
-
-
0032882849
-
High rates of schizophrenia in adults with velo-cardio-facial syndrome
-
Murphy K.C., et al. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry 56 (1999) 940-945
-
(1999)
Arch. Gen. Psychiatry
, vol.56
, pp. 940-945
-
-
Murphy, K.C.1
-
58
-
-
0032503887
-
22q11 deletion syndrome in adults with schizophrenia
-
Bassett A.S., et al. 22q11 deletion syndrome in adults with schizophrenia. Am. J. Med. Genet. 81 (1998) 328-337
-
(1998)
Am. J. Med. Genet.
, vol.81
, pp. 328-337
-
-
Bassett, A.S.1
-
59
-
-
0030834036
-
Velocardiofacial manifestations and microdeletions in schizophrenic inpatients
-
Gothelf D., et al. Velocardiofacial manifestations and microdeletions in schizophrenic inpatients. Am. J. Med. Genet. 72 (1997) 455-461
-
(1997)
Am. J. Med. Genet.
, vol.72
, pp. 455-461
-
-
Gothelf, D.1
-
60
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri N., et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat. Genet. 40 (2008) 1466-1471
-
(2008)
Nat. Genet.
, vol.40
, pp. 1466-1471
-
-
Brunetti-Pierri, N.1
-
61
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
Sharp A.J., et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40 (2008) 322-328
-
(2008)
Nat. Genet.
, vol.40
, pp. 322-328
-
-
Sharp, A.J.1
-
62
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss L.A., et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358 (2008) 667-675
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
-
63
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar R.A., et al. Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17 (2008) 628-638
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
-
64
-
-
65949097704
-
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
-
Hannes F.D., et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J. Med. Genet. 46 (2009) 223-232
-
(2009)
J. Med. Genet.
, vol.46
, pp. 223-232
-
-
Hannes, F.D.1
-
65
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari P., et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet. 39 (2007) 319-328
-
(2007)
Nat. Genet.
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
-
66
-
-
38749084216
-
Disruption of neurexin 1 associated with autism spectrum disorder
-
Kim H.G., et al. Disruption of neurexin 1 associated with autism spectrum disorder. Am. J. Hum. Genet. 82 (2008) 199-207
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 199-207
-
-
Kim, H.G.1
-
67
-
-
34347344982
-
Major changes in our DNA lead to major changes in our thinking
-
Sebat J. Major changes in our DNA lead to major changes in our thinking. Nat. Genet. 39 (2007) S3-S5
-
(2007)
Nat. Genet.
, vol.39
-
-
Sebat, J.1
-
68
-
-
84971185409
-
The correlation between relatives on the supposition of Mendelian inheritance
-
Fisher R.A. The correlation between relatives on the supposition of Mendelian inheritance. Phil. Trans. Roy. Soc. Edinb. 52 (1918) 399-433
-
(1918)
Phil. Trans. Roy. Soc. Edinb.
, vol.52
, pp. 399-433
-
-
Fisher, R.A.1
-
69
-
-
12144290440
-
Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome
-
Gothelf D., et al. Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome. Am. J. Med. Genet. B 126 (2004) 116-121
-
(2004)
Am. J. Med. Genet. B
, vol.126
, pp. 116-121
-
-
Gothelf, D.1
-
70
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
Mefford H.C., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359 (2008) 1685-1699
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 1685-1699
-
-
Mefford, H.C.1
-
71
-
-
59149096726
-
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
-
Helbig I., et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat. Genet. 41 (2009) 160-162
-
(2009)
Nat. Genet.
, vol.41
, pp. 160-162
-
-
Helbig, I.1
-
72
-
-
70350774172
-
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
-
Dibbens L.M., et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum. Mol. Genet. 18 (2009) 3626-3631
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3626-3631
-
-
Dibbens, L.M.1
-
73
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp A.J., et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat. Genet. 38 (2006) 1038-1042
-
(2006)
Nat. Genet.
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
-
74
-
-
69949177829
-
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
-
Guilmatre A., et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch. Gen. Psychiatry 66 (2009) 947-956
-
(2009)
Arch. Gen. Psychiatry
, vol.66
, pp. 947-956
-
-
Guilmatre, A.1
-
75
-
-
39649117755
-
The impact of next-generation sequencing technology on genetics
-
Mardis E.R. The impact of next-generation sequencing technology on genetics. Trends Genet. 24 (2008) 133-141
-
(2008)
Trends Genet.
, vol.24
, pp. 133-141
-
-
Mardis, E.R.1
-
76
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley D.R., et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456 (2008) 53-59
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
-
77
-
-
55549097849
-
The diploid genome sequence of an Asian individual
-
Wang J., et al. The diploid genome sequence of an Asian individual. Nature 456 (2008) 60-65
-
(2008)
Nature
, vol.456
, pp. 60-65
-
-
Wang, J.1
-
78
-
-
42249087308
-
The complete genome of an individual by massively parallel DNA sequencing
-
Wheeler D.A., et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452 (2008) 872-876
-
(2008)
Nature
, vol.452
, pp. 872-876
-
-
Wheeler, D.A.1
-
79
-
-
35348988679
-
Paired-end mapping reveals extensive structural variation in the human genome
-
Korbel J.O., et al. Paired-end mapping reveals extensive structural variation in the human genome. Science 318 (2007) 420-426
-
(2007)
Science
, vol.318
, pp. 420-426
-
-
Korbel, J.O.1
-
80
-
-
69749122557
-
Sensitive and accurate detection of copy number variants using read depth of coverage
-
Yoon S., et al. Sensitive and accurate detection of copy number variants using read depth of coverage. Genome Res. 19 (2009) 1586-1592
-
(2009)
Genome Res.
, vol.19
, pp. 1586-1592
-
-
Yoon, S.1
-
81
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan C., et al. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat. Genet. 41 (2009) 1061-1067
-
(2009)
Nat. Genet.
, vol.41
, pp. 1061-1067
-
-
Alkan, C.1
-
82
-
-
58149218240
-
High-resolution mapping of copy-number alterations with massively parallel sequencing
-
Chiang D.Y., et al. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat. Methods 6 (2009) 99-103
-
(2009)
Nat. Methods
, vol.6
, pp. 99-103
-
-
Chiang, D.Y.1
-
83
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
Hodges E., et al. Genome-wide in situ exon capture for selective resequencing. Nat. Genet. 39 (2007) 1522-1527
-
(2007)
Nat. Genet.
, vol.39
, pp. 1522-1527
-
-
Hodges, E.1
-
84
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert T.J., et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 4 (2007) 903-905
-
(2007)
Nat. Methods
, vol.4
, pp. 903-905
-
-
Albert, T.J.1
-
85
-
-
28944439309
-
Animal MicroRNAs confer robustness to gene expression and have a significant impact on 3'UTR evolution
-
Stark A., et al. Animal MicroRNAs confer robustness to gene expression and have a significant impact on 3'UTR evolution. Cell 123 (2005) 1133-1146
-
(2005)
Cell
, vol.123
, pp. 1133-1146
-
-
Stark, A.1
-
86
-
-
1242330479
-
Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)
-
Walz K., et al. Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2). Hum. Mol. Genet. 13 (2004) 367-378
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 367-378
-
-
Walz, K.1
-
87
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski J.R., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66 (1991) 219-232
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
-
88
-
-
67549083336
-
Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism
-
Nakatani J., et al. Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. Cell 137 (2009) 1235-1246
-
(2009)
Cell
, vol.137
, pp. 1235-1246
-
-
Nakatani, J.1
-
89
-
-
17744388353
-
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome
-
Bi W., et al. Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum. Mol. Genet. 14 (2005) 983-995
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 983-995
-
-
Bi, W.1
-
90
-
-
0037774700
-
Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis
-
Missler M., et al. Alpha-neurexins couple Ca2+ channels to synaptic vesicle exocytosis. Nature 423 (2003) 939-948
-
(2003)
Nature
, vol.423
, pp. 939-948
-
-
Missler, M.1
-
91
-
-
0037130455
-
Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3
-
Shahbazian M., et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35 (2002) 243-254
-
(2002)
Neuron
, vol.35
, pp. 243-254
-
-
Shahbazian, M.1
-
92
-
-
0028246435
-
Fmr1 knockout mice: A model to study fragile X mental retardation
-
The Dutch-Belgian Fragile X Consortium
-
The Dutch-Belgian Fragile X Consortium (1994) Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78, 23-33
-
(1994)
Cell
, vol.78
, pp. 23-33
-
-
-
93
-
-
1942422646
-
Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
-
Passage E., et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat. Med 10 (2004) 396-401
-
(2004)
Nat. Med
, vol.10
, pp. 396-401
-
-
Passage, E.1
-
94
-
-
33947219362
-
Ascorbic acid inhibits PMP22 expression by reducing cAMP levels
-
Kaya F., et al. Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul. Disord. 17 (2007) 248-253
-
(2007)
Neuromuscul. Disord.
, vol.17
, pp. 248-253
-
-
Kaya, F.1
-
95
-
-
24344457816
-
Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP
-
Yan Q.J., et al. Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEP. Neuropharmacology 49 (2005) 1053-1066
-
(2005)
Neuropharmacology
, vol.49
, pp. 1053-1066
-
-
Yan, Q.J.1
-
96
-
-
37049032616
-
Correction of fragile X syndrome in mice
-
Dolen G., et al. Correction of fragile X syndrome in mice. Neuron 56 (2007) 955-962
-
(2007)
Neuron
, vol.56
, pp. 955-962
-
-
Dolen, G.1
-
97
-
-
44949125523
-
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
-
de Vrij F.M., et al. Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol. Dis. 31 (2008) 127-132
-
(2008)
Neurobiol. Dis.
, vol.31
, pp. 127-132
-
-
de Vrij, F.M.1
-
98
-
-
34547731978
-
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
-
Nishimura Y., et al. Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum. Mol. Genet. 16 (2007) 1682-1698
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 1682-1698
-
-
Nishimura, Y.1
-
99
-
-
36749043230
-
Induced pluripotent stem cell lines derived from human somatic cells
-
Yu J., et al. Induced pluripotent stem cell lines derived from human somatic cells. Science 318 (2007) 1917-1920
-
(2007)
Science
, vol.318
, pp. 1917-1920
-
-
Yu, J.1
-
100
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
-
Takahashi K., et al. Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131 (2007) 861-872
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
-
101
-
-
65449121435
-
Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency
-
Hotta A., et al. Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency. Nat. Methods 6 (2009) 370-376
-
(2009)
Nat. Methods
, vol.6
, pp. 370-376
-
-
Hotta, A.1
-
102
-
-
34250813165
-
Is the Wisconsin Card Sorting Test a useful neurocognitive endophenotype? Am
-
Kremen W.S., et al. Is the Wisconsin Card Sorting Test a useful neurocognitive endophenotype? Am. J. Med. Genet. B 144 (2007) 403-406
-
(2007)
J. Med. Genet. B
, vol.144
, pp. 403-406
-
-
Kremen, W.S.1
-
103
-
-
33748052338
-
Subtyping schizophrenia: implications for genetic research
-
Jablensky A. Subtyping schizophrenia: implications for genetic research. Mol. Psychiatry 11 (2006) 815-836
-
(2006)
Mol. Psychiatry
, vol.11
, pp. 815-836
-
-
Jablensky, A.1
-
104
-
-
0025222031
-
Magnetic resonance imaging and spectroscopy in schizophrenia
-
Waddington J.L., et al. Magnetic resonance imaging and spectroscopy in schizophrenia. Br. J. Psychiatry Suppl. (1990) 56-65
-
(1990)
Br. J. Psychiatry Suppl.
, pp. 56-65
-
-
Waddington, J.L.1
-
105
-
-
67849115976
-
In vivo imaging of synaptic function in the central nervous system. II. Mental and affective disorders
-
Nikolaus S., et al. In vivo imaging of synaptic function in the central nervous system. II. Mental and affective disorders. Behav. Brain Res. 204 (2009) 32-66
-
(2009)
Behav. Brain Res.
, vol.204
, pp. 32-66
-
-
Nikolaus, S.1
-
106
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen D.A., et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat. Genet. 38 (2006) 999-1001
-
(2006)
Nat. Genet.
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
-
107
-
-
33748300645
-
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
-
Shaw-Smith C., et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat. Genet. 38 (2006) 1032-1037
-
(2006)
Nat. Genet.
, vol.38
, pp. 1032-1037
-
-
Shaw-Smith, C.1
-
108
-
-
0038823525
-
The endophenotype concept in psychiatry: etymology and strategic intentions
-
Gottesman I.I., and Gould T.D. The endophenotype concept in psychiatry: etymology and strategic intentions. Am. J. Psychiatry 160 (2003) 636-645
-
(2003)
Am. J. Psychiatry
, vol.160
, pp. 636-645
-
-
Gottesman, I.I.1
Gould, T.D.2
-
109
-
-
44349193331
-
Neurexin 1alpha structural variants associated with autism
-
Yan J., et al. Neurexin 1alpha structural variants associated with autism. Neurosci. Lett. 438 (2008) 368-370
-
(2008)
Neurosci. Lett.
, vol.438
, pp. 368-370
-
-
Yan, J.1
-
110
-
-
67349130116
-
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
-
Doornbos M., et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur. J. Med. Genet. 52 (2009) 108-115
-
(2009)
Eur. J. Med. Genet.
, vol.52
, pp. 108-115
-
-
Doornbos, M.1
-
111
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance P.F., et al. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72 (1993) 143-151
-
(1993)
Cell
, vol.72
, pp. 143-151
-
-
Chance, P.F.1
-
112
-
-
69749104320
-
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
-
Mefford H.C., et al. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 19 (2009) 1579-1585
-
(2009)
Genome Res
, vol.19
, pp. 1579-1585
-
-
Mefford, H.C.1
-
113
-
-
70449724234
-
-
Elia, J. et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol. Psychiatry 2009 Jun 23. [Epub ahead of print]
-
Elia, J. et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol. Psychiatry 2009 Jun 23. [Epub ahead of print]
-
-
-
-
114
-
-
38749099110
-
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders
-
Bakkaloglu B., et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am. J. Hum. Genet. 82 (2008) 165-173
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 165-173
-
-
Bakkaloglu, B.1
-
115
-
-
38749096303
-
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism
-
Arking D.E., et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am. J. Hum. Genet. 82 (2008) 160-164
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 160-164
-
-
Arking, D.E.1
-
116
-
-
38749140677
-
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
-
Alarcon M., et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am. J. Hum. Genet. 82 (2008) 150-159
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 150-159
-
-
Alarcon, M.1
|