-
1
-
-
84905582433
-
Most genetic risk for autism resides with common variation
-
4137411 1:CAS:528:DC%2BC2cXhtFygs7fK 25038753
-
Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet. 2014;46:881-5.
-
(2014)
Nat Genet
, vol.46
, pp. 881-885
-
-
Gaugler, T.1
Klei, L.2
Sanders, S.J.3
Bodea, C.A.4
Goldberg, A.P.5
Lee, A.B.6
-
2
-
-
84907982955
-
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
-
Dong S, Walker MF, Carriero NJ, DiCola M, Willsey AJ, Ye AY, et al. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep. 2014;9:16-23
-
(2014)
Cell Rep.
, vol.9
, pp. 16-23
-
-
Dong, S.1
Walker, M.F.2
Carriero, N.J.3
DiCola, M.4
Willsey, A.J.5
Ye, A.Y.6
-
3
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014;515:216-221.
-
(2014)
Nature
, vol.515
, pp. 216-221
-
-
Iossifov, I.1
O'Roak, B.J.2
Sanders, S.J.3
Ronemus, M.4
Krumm, N.5
Levy, D.6
-
4
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209-215.
-
(2014)
Nature
, vol.515
, pp. 209-215
-
-
De Rubeis, S.1
He, X.2
Goldberg, A.P.3
Poultney, C.S.4
Samocha, K.5
Cicek, A.E.6
-
5
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
3667984 1:CAS:528:DC%2BC38XlslSisr8%3D 22495306
-
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 2012;485:237-41.
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
Murtha, M.T.2
Gupta, A.R.3
Murdoch, J.D.4
Raubeson, M.J.5
Willsey, A.J.6
-
6
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
3619976 1:CAS:528:DC%2BC38XmtFGgt7k%3D 22542183
-
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, et al. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012;74:285-99.
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
Ronemus, M.2
Levy, D.3
Wang, Z.4
Hakker, I.5
Rosenbaum, J.6
-
7
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012;485:246-250.
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
Coe, B.P.6
-
8
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012;485:242-245.
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'Ayan, A.4
Samocha, K.E.5
Sabo, A.6
-
9
-
-
84899472749
-
DAWN: A framework to identify autism genes and subnetworks using gene expression and genetics
-
4016412 24602502
-
Liu L, Lei J, Sanders SJ, Willsey AJ, Kou Y, Cicek AE, et al. DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. Mol Autism. 2014;5:22.
-
(2014)
Mol Autism
, vol.5
, pp. 22
-
-
Liu, L.1
Lei, J.2
Sanders, S.J.3
Willsey, A.J.4
Kou, Y.5
Cicek, A.E.6
-
10
-
-
84899918742
-
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
-
4067558 1:CAS:528:DC%2BC2cXntVCjsr0%3D 24768552
-
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet. 2014;94:677-94.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 677-694
-
-
Pinto, D.1
Delaby, E.2
Merico, D.3
Barbosa, M.4
Merikangas, A.5
Klei, L.6
-
11
-
-
84889583293
-
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
-
3995413 1:CAS:528:DC%2BC3sXhvFWis7zP 24267886
-
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, et al. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 2013;155:997-1007.
-
(2013)
Cell
, vol.155
, pp. 997-1007
-
-
Willsey, A.J.1
Sanders, S.J.2
Li, M.3
Dong, S.4
Tebbenkamp, A.T.5
Muhle, R.A.6
-
12
-
-
67049118065
-
Epidemiology of pervasive developmental disorders
-
19218885
-
Fombonne E. Epidemiology of pervasive developmental disorders. Pediatric research. 2009;65:591-8.
-
(2009)
Pediatric Research
, vol.65
, pp. 591-598
-
-
Fombonne, E.1
-
13
-
-
77957927440
-
The Simons Simplex Collection: A resource for identification of autism genetic risk factors
-
1:CAS:528:DC%2BC3cXhtlSmtr7P 20955926
-
Fischbach GD, Lord C. The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron. 2010;68:192-5.
-
(2010)
Neuron
, vol.68
, pp. 192-195
-
-
Fischbach, G.D.1
Lord, C.2
-
14
-
-
80052366179
-
Recurrence risk for autism spectrum disorders: A baby siblings research consortium study
-
3164092 21844053
-
Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence risk for autism spectrum disorders: a baby siblings research consortium study. Pediatrics. 2011;128:e488-95.
-
(2011)
Pediatrics
, vol.128
, pp. e488-e495
-
-
Ozonoff, S.1
Young, G.S.2
Carter, A.3
Messinger, D.4
Yirmiya, N.5
Zwaigenbaum, L.6
-
15
-
-
84859394070
-
Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008
-
Investigators AaDDMNSYP Prevention CfDCa
-
Investigators AaDDMNSYP, Prevention CfDCa. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, 14 sites, United States, 2008. MMWR Surveill Summ. 2008;61(3):1-19.
-
(2008)
MMWR Surveill Summ
, vol.61
, Issue.3
, pp. 1-19
-
-
-
16
-
-
79958258583
-
Prevalence of autism spectrum disorders in a total population sample
-
21558103
-
Kim YS, Leventhal BL, Koh Y-J, Fombonne E, Laska E, Lim E-C, et al. Prevalence of autism spectrum disorders in a total population sample. Am J Psychiatr. 2011;168:904-12.
-
(2011)
Am J Psychiatr
, vol.168
, pp. 904-912
-
-
Kim, Y.S.1
Leventhal, B.L.2
Koh, Y.-J.3
Fombonne, E.4
Laska, E.5
Lim, E.-C.6
-
17
-
-
84895920717
-
A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders
-
3951938 1:CAS:528:DC%2BC2cXjsVWru7Y%3D 24581740
-
Jacquemont S, Coe BP, Hersch M, Duyzend MH, Krumm N, Bergmann S, et al. A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. Am J Hum Genet. 2014;94:415-25.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 415-425
-
-
Jacquemont, S.1
Coe, B.P.2
Hersch, M.3
Duyzend, M.H.4
Krumm, N.5
Bergmann, S.6
-
18
-
-
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, Moreno-De-Luca D, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011;70:863-85.
-
(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
Moreno-De-Luca, D.6
-
19
-
-
79958032110
-
Rare de novo and transmitted copy number variation in autistic spectrum disorders
-
Levy D, Ronemus M, Yamrom B, Lee Y-H, Leotta A, Kendall J, et al. Rare de novo and transmitted copy number variation in autistic spectrum disorders. Neuron; 70:886-897.
-
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.-H.4
Leotta, A.5
Kendall, J.6
-
20
-
-
84871298155
-
Common genetic variants, acting additively, are a major source of risk for autism
-
3579743 23067556
-
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012;3:9.
-
(2012)
Mol Autism
, vol.3
, pp. 9
-
-
Klei, L.1
Sanders, S.J.2
Murtha, M.T.3
Hus, V.4
Lowe, J.K.5
Willsey, A.J.6
-
22
-
-
78349291914
-
Sibling recurrence and the genetic epidemiology of autism
-
2970737 20889652
-
Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P. Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatr. 2010;167:1349-56.
-
(2010)
Am J Psychiatr
, vol.167
, pp. 1349-1356
-
-
Constantino, J.N.1
Zhang, Y.2
Frazier, T.3
Abbacchi, A.M.4
Law, P.5
-
23
-
-
63449088785
-
Familial aggregation of quantitative autistic traits in multiplex versus simplex autism
-
2819431 18618672
-
Virkud YV, Todd RD, Abbacchi AM, Zhang Y, Constantino JN. Familial aggregation of quantitative autistic traits in multiplex versus simplex autism. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:328-34.
-
(2009)
Am J Med Genet B Neuropsychiatr Genet
, vol.150
, pp. 328-334
-
-
Virkud, Y.V.1
Todd, R.D.2
Abbacchi, A.M.3
Zhang, Y.4
Constantino, J.N.5
-
24
-
-
0037629077
-
Autistic traits in the general population: A twin study
-
12742874
-
Constantino JN, Todd RD. Autistic traits in the general population: a twin study. Arch Gen Psychiatry. 2003;60:524-30.
-
(2003)
Arch Gen Psychiatry
, vol.60
, pp. 524-530
-
-
Constantino, J.N.1
Todd, R.D.2
-
25
-
-
84878948383
-
Quantitative autistic traits ascertained in a national survey of 22 529 Japanese schoolchildren
-
3604131 1:STN:280:DC%2BC3s7ltlSjtQ%3D%3D 23171198
-
Kamio Y, Inada N, Moriwaki A, Kuroda M, Koyama T, Tsujii H, et al. Quantitative autistic traits ascertained in a national survey of 22 529 Japanese schoolchildren. Acta Psychiatr Scand. 2013;128:45-53.
-
(2013)
Acta Psychiatr Scand
, vol.128
, pp. 45-53
-
-
Kamio, Y.1
Inada, N.2
Moriwaki, A.3
Kuroda, M.4
Koyama, T.5
Tsujii, H.6
-
27
-
-
84867829870
-
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
-
3471395 1:CAS:528:DC%2BC38XhsFCgsLnP 22843504
-
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet. 2012;21:4781-92.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4781-4792
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Almeida, J.4
Bacchelli, E.5
Baird, G.6
-
28
-
-
0034916325
-
The autism genetic resource exchange: A resource for the study of autism and related neuropsychiatric conditions
-
1235320 1:STN:280:DC%2BD3MvgtVWktA%3D%3D 11452364
-
Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, et al. The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet. 2001;69:463-6.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 463-466
-
-
Geschwind, D.H.1
Sowinski, J.2
Lord, C.3
Iversen, P.4
Shestack, J.5
Jones, P.6
-
29
-
-
42149109325
-
Improved correction for population stratification in genome-wide association studies by identifying hidden population structures
-
1:CAS:528:DC%2BD1cXpt1Oju74%3D 18161052
-
Li Q, Yu K. Improved correction for population stratification in genome-wide association studies by identifying hidden population structures. Genet Epidemiol. 2008;32:215-26.
-
(2008)
Genet Epidemiol
, vol.32
, pp. 215-226
-
-
Li, Q.1
Yu, K.2
-
30
-
-
27544446224
-
The International HapMap Project Web site
-
1310647 1:CAS:528:DC%2BD2MXhtF2itb%2FM 16251469
-
Thorisson GA, Smith AV, Krishnan L, Stein LD. The International HapMap Project Web site. Genome Res. 2005;15:1592-3.
-
(2005)
Genome Res
, vol.15
, pp. 1592-1593
-
-
Thorisson, G.A.1
Smith, A.V.2
Krishnan, L.3
Stein, L.D.4
-
31
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
1:CAS:528:DC%2BD2sXhtVSqurrL
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. PLINK: a tool set for whole-genome association and population-based linkage analyses. 2007;81:559-75.
-
(2007)
PLINK: A Tool Set for Whole-genome Association and Population-based Linkage Analyses
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
-
32
-
-
15244353967
-
X-inactivation profile reveals extensive variability in X-linked gene expression in females
-
1:CAS:528:DC%2BD2MXit1yqsrY%3D 15772666
-
Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005;434:400-4.
-
(2005)
Nature
, vol.434
, pp. 400-404
-
-
Carrel, L.1
Willard, H.F.2
-
33
-
-
34547145165
-
GPower 3: A flexible statistical power analysis program for the social, behavioral, and biomedical sciences
-
17695343
-
Faul F, Erdfelder E, Lang AG, Buchner A. GPower 3: a flexible statistical power analysis program for the social, behavioral, and biomedical sciences. Behav Res Methods. 2007;39:175-91.
-
(2007)
Behav Res Methods
, vol.39
, pp. 175-191
-
-
Faul, F.1
Erdfelder, E.2
Lang, A.G.3
Buchner, A.4
-
34
-
-
15744390996
-
Intergenerational transmission of subthreshold autistic traits in the general population
-
15780853
-
Constantino JN, Todd RD. Intergenerational transmission of subthreshold autistic traits in the general population. Biol Psychiatry. 2005;57:655-60.
-
(2005)
Biol Psychiatry
, vol.57
, pp. 655-660
-
-
Constantino, J.N.1
Todd, R.D.2
|