-
2
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al. (2004) Detection of large-scale variation in the human genome. Nat Genet 36: 949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
-
3
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, et al. (2004) Large-scale copy number polymorphism in the human genome. Science 305: 525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
-
4
-
-
33746741125
-
Copy number variation: new insights in genome diversity
-
Freeman JL, Perry GH, Feuk L, Redon R, McCarroll SA, et al. (2006) Copy number variation: new insights in genome diversity. Genome Res 16: 949-961.
-
(2006)
Genome Res
, vol.16
, pp. 949-961
-
-
Freeman, J.L.1
Perry, G.H.2
Feuk, L.3
Redon, R.4
McCarroll, S.A.5
-
5
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium
-
International Schizophrenia Consortium, (2008) Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455: 237-241.
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
-
6
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, Pietiläinen OP, Ingason A, et al. (2008) Large recurrent microdeletions associated with schizophrenia. Nature 455: 232-236.
-
(2008)
Nature
, vol.455
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Pietiläinen, O.P.4
Ingason, A.5
-
7
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, et al. (2007) Strong association of de novo copy number mutations with autism. Science 316: 445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
-
8
-
-
84855829221
-
Rare deletions at the neurexin 3 locus in autism spectrum disorder
-
Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, et al. (2012) Rare deletions at the neurexin 3 locus in autism spectrum disorder. Am J Hum Genet 90: 133-141.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 133-141
-
-
Vaags, A.K.1
Lionel, A.C.2
Sato, D.3
Goodenberger, M.4
Stein, Q.P.5
-
9
-
-
79952333807
-
Gender Ratios in Autism, Asperger Syndrome and Autism Spectrum Disorder
-
Whiteley P, Todd L, Carr K, Shattock P, (2010) Gender Ratios in Autism, Asperger Syndrome and Autism Spectrum Disorder. Autism Insights 2: 17-24.
-
(2010)
Autism Insights
, vol.2
, pp. 17-24
-
-
Whiteley, P.1
Todd, L.2
Carr, K.3
Shattock, P.4
-
10
-
-
55249091422
-
Schizophrenia: a concise overview of incidence, prevalence, and mortality
-
McGrath J, Saha S, Chant D, Welham J, (2008) Schizophrenia: a concise overview of incidence, prevalence, and mortality. Epidemiol Rev 30: 67-76.
-
(2008)
Epidemiol Rev
, vol.30
, pp. 67-76
-
-
McGrath, J.1
Saha, S.2
Chant, D.3
Welham, J.4
-
11
-
-
84864371632
-
Gender bias, female resilience, and the sex ratio in autism
-
Constantino JN, Charman T, (2012) Gender bias, female resilience, and the sex ratio in autism. J Am Acad Child Adolesc Psychiatry 51: 756-758.
-
(2012)
J Am Acad Child Adolesc Psychiatry
, vol.51
, pp. 756-758
-
-
Constantino, J.N.1
Charman, T.2
-
12
-
-
56749179965
-
Phenotypic variations on the theme of CNVs
-
O'Donovan MC, Kirov G, Owen MJ, (2008) Phenotypic variations on the theme of CNVs. Nat Genet 40: 1392-1393.
-
(2008)
Nat Genet
, vol.40
, pp. 1392-1393
-
-
O'Donovan, M.C.1
Kirov, G.2
Owen, M.J.3
-
13
-
-
19944419749
-
The sequence and analysis of duplication-rich human chromosome 16
-
Martin J, Han C, Gordon LA, Terry A, Prabhakar S, et al. (2004) The sequence and analysis of duplication-rich human chromosome 16. Nature 432: 988-994.
-
(2004)
Nature
, vol.432
, pp. 988-994
-
-
Martin, J.1
Han, C.2
Gordon, L.A.3
Terry, A.4
Prabhakar, S.5
-
15
-
-
34447278070
-
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
-
Ullmann R, Turner G, Kirchhoff M, Chen W, Tonge B, et al. (2007) Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 28: 674-682.
-
(2007)
Hum Mutat
, vol.28
, pp. 674-682
-
-
Ullmann, R.1
Turner, G.2
Kirchhoff, M.3
Chen, W.4
Tonge, B.5
-
16
-
-
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 FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, et al. (2009) 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: 223-232.
-
(2009)
J Med Genet
, vol.46
, pp. 223-232
-
-
Hannes, F.D.1
Sharp, A.J.2
Mefford, H.C.3
de Ravel, T.4
Ruivenkamp, C.A.5
-
17
-
-
64549147485
-
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
-
Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, et al. (2009) Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 18: 1497-1503.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1497-1503
-
-
Kirov, G.1
Grozeva, D.2
Norton, N.3
Ivanov, D.4
Mantripragada, K.K.5
-
18
-
-
73549099101
-
Copy number variation in schizophrenia in the Japanese population
-
Ikeda M, Aleksic B, Kirov G, Kinoshita Y, Yamanouchi Y, et al. (2010) Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry 67: 283-286.
-
(2010)
Biol Psychiatry
, vol.67
, pp. 283-286
-
-
Ikeda, M.1
Aleksic, B.2
Kirov, G.3
Kinoshita, Y.4
Yamanouchi, Y.5
-
19
-
-
84947649513
-
Copy number variations of chromosome 16p13.1 region associated with schizophrenia
-
Ingason A, Rujescu D, Cichon S, Sigurdsson E, Sigmundsson T, et al. (2011) Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry 16: 17-25.
-
(2011)
Mol Psychiatry
, vol.16
, pp. 17-25
-
-
Ingason, A.1
Rujescu, D.2
Cichon, S.3
Sigurdsson, E.4
Sigmundsson, T.5
-
20
-
-
77956628767
-
Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
-
Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, et al. (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6: e1000962.
-
(2010)
PLoS Genet
, vol.6
-
-
Mefford, H.C.1
Muhle, H.2
Ostertag, P.3
von Spiczak, S.4
Buysse, K.5
-
21
-
-
77952096810
-
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
-
Heinzen EL, Radtke RA, Urban TJ, Cavalleri GL, Depondt C, et al. (2010) Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes. Am J Hum Genet 86: 707-718.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 707-718
-
-
Heinzen, E.L.1
Radtke, R.A.2
Urban, T.J.3
Cavalleri, G.L.4
Depondt, C.5
-
22
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, et al. (2010) Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 133: 23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
de Kovel, C.G.1
Trucks, H.2
Helbig, I.3
Mefford, H.C.4
Baker, C.5
-
23
-
-
78049303903
-
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis
-
Williams NM, Zaharieva I, Martin A, Langley K, Mantripragada K, et al. (2010) Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 376: 1401-1408.
-
(2010)
Lancet
, vol.376
, pp. 1401-1408
-
-
Williams, N.M.1
Zaharieva, I.2
Martin, A.3
Langley, K.4
Mantripragada, K.5
-
24
-
-
79951810239
-
Phenotypic manifestations of copy number variation in chromosome 16p13.11
-
Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, et al. (2011) Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet 19: 280-286.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 280-286
-
-
Nagamani, S.C.1
Erez, A.2
Bader, P.3
Lalani, S.R.4
Scott, D.A.5
-
25
-
-
79959889715
-
Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections
-
Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, et al. (2011) Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet 7: e1002118.
-
(2011)
PLoS Genet
, vol.7
-
-
Kuang, S.Q.1
Guo, D.C.2
Prakash, S.K.3
McDonald, M.L.4
Johnson, R.J.5
-
26
-
-
27644506085
-
Sex differences in the brain: implications for explaining autism
-
Baron-Cohen S, Knickmeyer RC, Belmonte MK, (2005) Sex differences in the brain: implications for explaining autism. Science 310: 819-823.
-
(2005)
Science
, vol.310
, pp. 819-823
-
-
Baron-Cohen, S.1
Knickmeyer, R.C.2
Belmonte, M.K.3
-
27
-
-
56549099067
-
Sex-specific genetic architecture of human disease
-
Ober C, Loisel DA, Gilad Y, (2008) Sex-specific genetic architecture of human disease. Nat Rev Genet 9: 911-922.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 911-922
-
-
Ober, C.1
Loisel, D.A.2
Gilad, Y.3
-
28
-
-
31744449136
-
The sex-specific genetic architecture of quantitative traits in humans
-
Weiss LA, Pan L, Abney M, Ober C, (2006) The sex-specific genetic architecture of quantitative traits in humans. Nat Genet 38: 218-222.
-
(2006)
Nat Genet
, vol.38
, pp. 218-222
-
-
Weiss, L.A.1
Pan, L.2
Abney, M.3
Ober, C.4
-
29
-
-
79960114775
-
Sex differences in epigenetic mechanisms may underlie risk and resilience for mental health disorders
-
Jessen HM, Auger AP, (2011) Sex differences in epigenetic mechanisms may underlie risk and resilience for mental health disorders. Epigenetics 6: 857-861.
-
(2011)
Epigenetics
, vol.6
, pp. 857-861
-
-
Jessen, H.M.1
Auger, A.P.2
-
30
-
-
77950847453
-
Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance
-
Ahn JW, Mann K, Walsh S, Shehab M, Hoang S, et al. (2010) Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Mol Cytogenet 3: 9.
-
(2010)
Mol Cytogenet
, vol.3
, pp. 9
-
-
Ahn, J.W.1
Mann, K.2
Walsh, S.3
Shehab, M.4
Hoang, S.5
-
31
-
-
77957742109
-
MLPA for confirmation of array CGH results and determination of inheritance
-
Hills A, Ahn JW, Donaghue C, Thomas H, Mann K, et al. (2010) MLPA for confirmation of array CGH results and determination of inheritance. Mol Cytogenet 3: 19.
-
(2010)
Mol Cytogenet
, vol.3
, pp. 19
-
-
Hills, A.1
Ahn, J.W.2
Donaghue, C.3
Thomas, H.4
Mann, K.5
-
32
-
-
0022587922
-
Past and present state examination: the assessment of 'lifetime ever' psychopathology
-
McGuffin P, Katz R, Aldrich J, (1986) Past and present state examination: the assessment of 'lifetime ever' psychopathology. Psychol Med 16: 461-465.
-
(1986)
Psychol Med
, vol.16
, pp. 461-465
-
-
McGuffin, P.1
Katz, R.2
Aldrich, J.3
-
33
-
-
0021751143
-
Internal consistencies of the original and revised Beck Depression Inventory
-
Beck AT, Steer RA, (1984) Internal consistencies of the original and revised Beck Depression Inventory. J Clin Psychol 40: 1365-1367.
-
(1984)
J Clin Psychol
, vol.40
, pp. 1365-1367
-
-
Beck, A.T.1
Steer, R.A.2
-
34
-
-
84873056939
-
Genome-wide association analysis of copy number variation in recurrent depressive disorder
-
doi: 10.1038/mp.2011.144
-
Rucker JJ, Breen G, Pinto D, Pedroso I, Lewis CM, et al. (2011) Genome-wide association analysis of copy number variation in recurrent depressive disorder. Mol Psychiatry doi: 10.1038/mp.2011.144.
-
(2011)
Mol Psychiatry
-
-
Rucker, J.J.1
Breen, G.2
Pinto, D.3
Pedroso, I.4
Lewis, C.M.5
-
35
-
-
69749121852
-
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
-
Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, et al. (2009) High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 19: 1682-1690.
-
(2009)
Genome Res
, vol.19
, pp. 1682-1690
-
-
Shaikh, T.H.1
Gai, X.2
Perin, J.C.3
Glessner, J.T.4
Xie, H.5
-
36
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, et al. (2011) A copy number variation morbidity map of developmental delay. Nat Genet 43: 838-846.
-
(2011)
Nat Genet
, vol.43
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
Rosenfeld, J.A.4
Vu, T.H.5
-
37
-
-
62649088108
-
Population analysis of large copy number variants and hotspots of human genetic disease
-
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, et al. (2009) Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84: 148-161.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 148-161
-
-
Itsara, A.1
Cooper, G.M.2
Baker, C.3
Girirajan, S.4
Li, J.5
-
38
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, et al. (2008) Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 40: 1166-1174.
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
-
39
-
-
73449095762
-
The pitfalls of platform comparison: DNA copy number array technologies assessed
-
Curtis C, Lynch AG, Dunning MJ, Spiteri I, Marioni JC, et al. (2009) The pitfalls of platform comparison: DNA copy number array technologies assessed. BMC Genomics 10: 588.
-
(2009)
BMC Genomics
, vol.10
, pp. 588
-
-
Curtis, C.1
Lynch, A.G.2
Dunning, M.J.3
Spiteri, I.4
Marioni, J.C.5
-
40
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, et al. (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42: 203-209.
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
-
41
-
-
64149099583
-
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
-
Firth HV, Richards SM, Bevan AP, Clayton S, Corpas M, et al. (2009) DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. Am J Hum Genet 84: 524-533.
-
(2009)
Am J Hum Genet
, vol.84
, pp. 524-533
-
-
Firth, H.V.1
Richards, S.M.2
Bevan, A.P.3
Clayton, S.4
Corpas, M.5
-
42
-
-
77952679366
-
Ohnologs in the human genome are dosage balanced and frequently associated with disease
-
Makino T, McLysaght A, (2010) Ohnologs in the human genome are dosage balanced and frequently associated with disease. Proc Natl Acad Sci U S A 107: 9270-9274.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 9270-9274
-
-
Makino, T.1
McLysaght, A.2
-
43
-
-
0001687306
-
Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway
-
Kwon YT, Balogh SA, Davydov IV, Kashina AS, Yoon JK, et al. (2000) Altered activity, social behavior, and spatial memory in mice lacking the NTAN1p amidase and the asparagine branch of the N-end rule pathway. Mol Cell Biol 20: 4135-4148.
-
(2000)
Mol Cell Biol
, vol.20
, pp. 4135-4148
-
-
Kwon, Y.T.1
Balogh, S.A.2
Davydov, I.V.3
Kashina, A.S.4
Yoon, J.K.5
-
44
-
-
0033793995
-
Varying intertrial interval reveals temporally defined memory deficits and enhancements in NTAN1-deficient mice
-
Balogh SA, Kwon YT, Denenberg VH, (2000) Varying intertrial interval reveals temporally defined memory deficits and enhancements in NTAN1-deficient mice. Learn Mem 7: 279-286.
-
(2000)
Learn Mem
, vol.7
, pp. 279-286
-
-
Balogh, S.A.1
Kwon, Y.T.2
Denenberg, V.H.3
-
45
-
-
0035936959
-
Facilitated stimulus-response associative learning and long-term memory in mice lacking the NTAN1 amidase of the N-end rule pathway
-
Balogh SA, McDowell CS, Tae Kwon Y, Denenberg VH, (2001) Facilitated stimulus-response associative learning and long-term memory in mice lacking the NTAN1 amidase of the N-end rule pathway. Brain Res 892: 336-343.
-
(2001)
Brain Res
, vol.892
, pp. 336-343
-
-
Balogh, S.A.1
McDowell, C.S.2
Tae Kwon, Y.3
Denenberg, V.H.4
-
46
-
-
18244366107
-
A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q
-
Cichon S, Schumacher J, Müller DJ, Hürter M, Windemuth C, et al. (2001) A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet 10: 2933-2944.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 2933-2944
-
-
Cichon, S.1
Schumacher, J.2
Müller, D.J.3
Hürter, M.4
Windemuth, C.5
-
47
-
-
0038003196
-
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia
-
Lewis CM, Levinson DF, Wise LH, DeLisi LE, Straub RE, et al. (2003) Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet 73: 34-48.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 34-48
-
-
Lewis, C.M.1
Levinson, D.F.2
Wise, L.H.3
DeLisi, L.E.4
Straub, R.E.5
-
48
-
-
78049269607
-
A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy
-
Shimojima K, Imai K, Yamamoto T, (2010) A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am J Med Genet A 152A: 2820-2826.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2820-2826
-
-
Shimojima, K.1
Imai, K.2
Yamamoto, T.3
-
49
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70: 863-885.
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
Luo, R.4
Murtha, M.T.5
-
50
-
-
84856357672
-
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies
-
EPICURE Consortium
-
EPICURE Consortium, Leu C, de Kovel CG, Zara F, Striano P, et al. (2012) Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies. Epilepsia 53: 308-318.
-
(2012)
Epilepsia
, vol.53
, pp. 308-318
-
-
Leu, C.1
de Kovel, C.G.2
Zara, F.3
Striano, P.4
-
51
-
-
77955364508
-
Penetrance for copy number variants associated with schizophrenia
-
Vassos E, Collier DA, Holden S, Patch C, Rujescu D, et al. (2010) Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet 19: 3477-3481.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3477-3481
-
-
Vassos, E.1
Collier, D.A.2
Holden, S.3
Patch, C.4
Rujescu, D.5
-
52
-
-
79959791701
-
Why are autism spectrum conditions more prevalent in males?
-
Baron-Cohen S, Lombardo MV, Auyeung B, Ashwin E, Chakrabarti B, et al. (2011) Why are autism spectrum conditions more prevalent in males? PLoS Biol 9: e1001081.
-
(2011)
PLoS Biol
, vol.9
-
-
Baron-Cohen, S.1
Lombardo, M.V.2
Auyeung, B.3
Ashwin, E.4
Chakrabarti, B.5
-
53
-
-
37449011579
-
Further evidence that some male-based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations
-
James WH, (2008) Further evidence that some male-based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations. Dev Med Child Neurol 50: 15-18.
-
(2008)
Dev Med Child Neurol
, vol.50
, pp. 15-18
-
-
James, W.H.1
-
54
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70: 886-897.
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.H.4
Leotta, A.5
-
55
-
-
79958035893
-
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
-
Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, et al. (2011) Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70: 898-907.
-
(2011)
Neuron
, vol.70
, pp. 898-907
-
-
Gilman, S.R.1
Iossifov, I.2
Levy, D.3
Ronemus, M.4
Wigler, M.5
-
56
-
-
79954599764
-
Decreased interhemispheric functional connectivity in autism
-
Anderson JS, Druzgal TJ, Froehlich A, DuBray MB, Lange N, et al. (2011) Decreased interhemispheric functional connectivity in autism. Cereb Cortex 21: 1134-1146.
-
(2011)
Cereb Cortex
, vol.21
, pp. 1134-1146
-
-
Anderson, J.S.1
Druzgal, T.J.2
Froehlich, A.3
DuBray, M.B.4
Lange, N.5
-
57
-
-
56249096150
-
Reduced interhemispheric connectivity in schizophrenia-tractography based segmentation of the corpus callosum
-
Kubicki M, Styner M, Bouix S, Gerig G, Markant D, et al. (2008) Reduced interhemispheric connectivity in schizophrenia-tractography based segmentation of the corpus callosum. Schizophr Res 106: 125-131.
-
(2008)
Schizophr Res
, vol.106
, pp. 125-131
-
-
Kubicki, M.1
Styner, M.2
Bouix, S.3
Gerig, G.4
Markant, D.5
-
58
-
-
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
-
59
-
-
33644627494
-
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
-
Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, et al. (2006) Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet 38: 343-349.
-
(2006)
Nat Genet
, vol.38
, pp. 343-349
-
-
Zhu, L.1
Vranckx, R.2
Khau Van Kien, P.3
Lalande, A.4
Boisset, N.5
-
60
-
-
78649678134
-
Multidrug resistance proteins (MRPs, ABCCs): importance for pathophysiology and drug therapy
-
Keppler D, (2011) Multidrug resistance proteins (MRPs, ABCCs): importance for pathophysiology and drug therapy. Handb Exp Pharmacol 201: 299-323.
-
(2011)
Handb Exp Pharmacol
, vol.201
, pp. 299-323
-
-
Keppler, D.1
-
61
-
-
0034123093
-
Mutations in ABCC6 cause pseudoxanthoma elasticum
-
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, et al. (2000) Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet 25: 228-231.
-
(2000)
Nat Genet
, vol.25
, pp. 228-231
-
-
Bergen, A.A.1
Plomp, A.S.2
Schuurman, E.J.3
Terry, S.4
Breuning, M.5
-
62
-
-
79955789917
-
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis
-
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, et al. (2011) The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet 88: 523-535.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 523-535
-
-
Bakircioglu, M.1
Carvalho, O.P.2
Khurshid, M.3
Cox, J.J.4
Tuysuz, B.5
-
63
-
-
5144222593
-
Mitotic spindle regulation by Nde1 controls cerebral cortical size
-
Feng Y, Walsh CA, (2004) Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron 44: 279-293.
-
(2004)
Neuron
, vol.44
, pp. 279-293
-
-
Feng, Y.1
Walsh, C.A.2
-
64
-
-
79955824315
-
Human mutations in NDE1 cause extreme microcephaly with lissencephaly
-
Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, et al. (2011) Human mutations in NDE1 cause extreme microcephaly with lissencephaly. Am J Hum Genet 88: 536-547.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 536-547
-
-
Alkuraya, F.S.1
Cai, X.2
Emery, C.3
Mochida, G.H.4
Al-Dosari, M.S.5
-
65
-
-
0035374379
-
Protein-protein interactions, cytoskeletal regulation and neuronal migration
-
Feng Y, Walsh CA, (2001) Protein-protein interactions, cytoskeletal regulation and neuronal migration. Nat Rev Neurosci 2: 408-416.
-
(2001)
Nat Rev Neurosci
, vol.2
, pp. 408-416
-
-
Feng, Y.1
Walsh, C.A.2
-
66
-
-
56349168458
-
DISC1, PDE4B, and NDE1 at the centrosome and synapse
-
Bradshaw NJ, Ogawa F, Antolin-Fontes B, Chubb JE, Carlyle BC, et al. (2008) DISC1, PDE4B, and NDE1 at the centrosome and synapse. Biochem Biophys Res Commun 377: 1091-1096.
-
(2008)
Biochem Biophys Res Commun
, vol.377
, pp. 1091-1096
-
-
Bradshaw, N.J.1
Ogawa, F.2
Antolin-Fontes, B.3
Chubb, J.E.4
Carlyle, B.C.5
-
67
-
-
79959304694
-
PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1
-
Bradshaw NJ, Soares DC, Carlyle BC, Ogawa F, Davidson-Smith H, et al. (2011) PKA phosphorylation of NDE1 is DISC1/PDE4 dependent and modulates its interaction with LIS1 and NDEL1. J Neurosci 31: 9043-9054.
-
(2011)
J Neurosci
, vol.31
, pp. 9043-9054
-
-
Bradshaw, N.J.1
Soares, D.C.2
Carlyle, B.C.3
Ogawa, F.4
Davidson-Smith, H.5
-
68
-
-
0345530985
-
Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects
-
Hennah W, Varilo T, Kestilä M, Paunio T, Arajärvi R, et al. (2003) Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects. Hum Mol Genet 12: 3151-3159.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3151-3159
-
-
Hennah, W.1
Varilo, T.2
Kestilä, M.3
Paunio, T.4
Arajärvi, R.5
-
69
-
-
32844455739
-
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia
-
Hennah W, Tuulio-Henriksson A, Paunio T, Ekelund J, Varilo T, et al. (2005) A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry 10: 1097-1103.
-
(2005)
Mol Psychiatry
, vol.10
, pp. 1097-1103
-
-
Hennah, W.1
Tuulio-Henriksson, A.2
Paunio, T.3
Ekelund, J.4
Varilo, T.5
-
70
-
-
21844435448
-
Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population
-
Thomson PA, Wray NR, Millar JK, Evans KL, Hellard SL, et al. (2005) Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. Mol Psychiatry 10: 657-668.
-
(2005)
Mol Psychiatry
, vol.10
, pp. 657-668
-
-
Thomson, P.A.1
Wray, N.R.2
Millar, J.K.3
Evans, K.L.4
Hellard, S.L.5
-
71
-
-
33749576292
-
Impact of the DISC1 Ser704Cys polymorphism on risk for major depression, brain morphology and ERK signaling
-
Hashimoto R, Numakawa T, Ohnishi T, Kumamaru E, Yagasaki Y, et al. (2006) Impact of the DISC1 Ser704Cys polymorphism on risk for major depression, brain morphology and ERK signaling. Hum Mol Genet 15: 3024-3033.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3024-3033
-
-
Hashimoto, R.1
Numakawa, T.2
Ohnishi, T.3
Kumamaru, E.4
Yagasaki, Y.5
-
72
-
-
34848875136
-
Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments
-
Palo OM, Antila M, Silander K, Hennah W, Kilpinen H, et al. (2007) Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments. Hum Mol Genet 16: 2517-2528.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 2517-2528
-
-
Palo, O.M.1
Antila, M.2
Silander, K.3
Hennah, W.4
Kilpinen, H.5
-
73
-
-
38349191027
-
Association of DISC1 with autism and Asperger syndrome
-
Kilpinen H, Ylisaukko-Oja T, Hennah W, Palo OM, Varilo T, et al. (2008) Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry 13: 187-196.
-
(2008)
Mol Psychiatry
, vol.13
, pp. 187-196
-
-
Kilpinen, H.1
Ylisaukko-Oja, T.2
Hennah, W.3
Palo, O.M.4
Varilo, T.5
-
74
-
-
34047152928
-
Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1
-
Hennah W, Tomppo L, Hiekkalinna T, Palo OM, Kilpinen H, et al. (2007) Families with the risk allele of DISC1 reveal a link between schizophrenia and another component of the same molecular pathway, NDE1. Hum Mol Genet 16: 453-462.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 453-462
-
-
Hennah, W.1
Tomppo, L.2
Hiekkalinna, T.3
Palo, O.M.4
Kilpinen, H.5
-
75
-
-
38349114264
-
Inducible expression of mutant human DISC1 in mice is associated with brain and behavioral abnormalities reminiscent of schizophrenia
-
Pletnikov MV, Ayhan Y, Nikolskaia O, Xu Y, Ovanesov MV, et al. (2008) Inducible expression of mutant human DISC1 in mice is associated with brain and behavioral abnormalities reminiscent of schizophrenia. Mol Psychiatry 13: 173-186.
-
(2008)
Mol Psychiatry
, vol.13
, pp. 173-186
-
-
Pletnikov, M.V.1
Ayhan, Y.2
Nikolskaia, O.3
Xu, Y.4
Ovanesov, M.V.5
-
76
-
-
79951813355
-
Differential effects of prenatal and postnatal expressions of mutant human DISC1 on neurobehavioral phenotypes in transgenic mice: evidence for neurodevelopmental origin of major psychiatric disorders
-
Ayhan Y, Abazyan B, Nomura J, Kim R, Ladenheim B, et al. (2011) Differential effects of prenatal and postnatal expressions of mutant human DISC1 on neurobehavioral phenotypes in transgenic mice: evidence for neurodevelopmental origin of major psychiatric disorders. Mol Psychiatry 16: 293-306.
-
(2011)
Mol Psychiatry
, vol.16
, pp. 293-306
-
-
Ayhan, Y.1
Abazyan, B.2
Nomura, J.3
Kim, R.4
Ladenheim, B.5
-
77
-
-
84859809937
-
Neuropathology of 16p13.11 deletion in epilepsy
-
Liu JY, Kasperavičiūtė D, Martinian L, Thom M, Sisodiya SM, (2012) Neuropathology of 16p13.11 deletion in epilepsy. PLoS One 7: e34813.
-
(2012)
PLoS One
, vol.7
-
-
Liu, J.Y.1
Kasperavičiute, D.2
Martinian, L.3
Thom, M.4
Sisodiya, S.M.5
|