-
2
-
-
84885220473
-
Recurrence of autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study
-
Grønborg T.K., Schendel D.E., Parner E.T. Recurrence of autism spectrum disorders in full- and half-siblings and trends over time: a population-based cohort study. JAMA Pediatr 2013, 167:947-953.
-
(2013)
JAMA Pediatr
, vol.167
, pp. 947-953
-
-
Grønborg, T.K.1
Schendel, D.E.2
Parner, E.T.3
-
3
-
-
84905582433
-
Most genetic risk for autism resides with common variation
-
Gaugler T., Klei L., Sanders S.J., Bodea C.A., Goldberg A.P., Lee A.B., Mahajan M., Manaa D., Pawitan Y., Reichert J., et al. Most genetic risk for autism resides with common variation. Nat Genet 2014, 46:881-885.
-
(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
Mahajan, M.7
Manaa, D.8
Pawitan, Y.9
Reichert, J.10
-
4
-
-
84899784475
-
The familial risk of autism
-
Sandin S., Lichtenstein P., Kuja-Halkola R., Larsson H., Hultman C.M., Reichenberg A. The familial risk of autism. JAMA 2014, 311:1770-1777.
-
(2014)
JAMA
, vol.311
, pp. 1770-1777
-
-
Sandin, S.1
Lichtenstein, P.2
Kuja-Halkola, R.3
Larsson, H.4
Hultman, C.M.5
Reichenberg, A.6
-
5
-
-
84925859448
-
Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample
-
Colvert E., Tick B., McEwen F., Stewart C., Curran S.R., Woodhouse E., Gillan N., Hallett V., Lietz S., Garnett T., et al. Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample. JAMA Psychiatry 2015, 72:415-423.
-
(2015)
JAMA Psychiatry
, vol.72
, pp. 415-423
-
-
Colvert, E.1
Tick, B.2
McEwen, F.3
Stewart, C.4
Curran, S.R.5
Woodhouse, E.6
Gillan, N.7
Hallett, V.8
Lietz, S.9
Garnett, T.10
-
6
-
-
84912101664
-
Autism spectrum disorders: from genes to neurobiology
-
Willsey A.J., State M.W. Autism spectrum disorders: from genes to neurobiology. Curr Opin Neurobiol 2015, 30:92-99.
-
(2015)
Curr Opin Neurobiol
, vol.30
, pp. 92-99
-
-
Willsey, A.J.1
State, M.W.2
-
7
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., et al. Strong association of de novo copy number mutations with autism. Science 2007, 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
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
-
8
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall C.R., Noor A., Vincent J.B., Lionel A.C., Feuk L., Skaug J., Shago M., Moessner R., Pinto D., Ren Y., et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82:477-488.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Skaug, J.6
Shago, M.7
Moessner, R.8
Pinto, D.9
Ren, Y.10
-
9
-
-
78649264297
-
De novo rates and selection of large copy number variation
-
Itsara A., Wu H., Smith J.D., Nickerson D.A., Romieu I., London S.J., Eichler E.E. De novo rates and selection of large copy number variation. Genome Res 2010, 20:1469-1481.
-
(2010)
Genome Res
, vol.20
, pp. 1469-1481
-
-
Itsara, A.1
Wu, H.2
Smith, J.D.3
Nickerson, D.A.4
Romieu, I.5
London, S.J.6
Eichler, E.E.7
-
10
-
-
79958074870
-
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region Are Strongly Associated with Autism
-
Sanders S.J., Ercan-Sencicek A.G., Hus V., Luo R., Murtha M.T., Moreno-De-Luca D., Chu S.H., Moreau M.P., Gupta A.R., Thomson S.A., et al. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region Are Strongly Associated with Autism. Neuron 2011, 70:863-885.
-
(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
Moreno-De-Luca, D.6
Chu, S.H.7
Moreau, M.P.8
Gupta, A.R.9
Thomson, S.A.10
-
11
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto D., Pagnamenta A.T., Klei L., Anney R., Merico D., Regan R., Conroy J., Magalhaes T.R., Correia C., Abrahams B.S., et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010, 466:368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
Regan, R.6
Conroy, J.7
Magalhaes, T.R.8
Correia, C.9
Abrahams, B.S.10
-
12
-
-
84899918742
-
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
-
Pinto D., Delaby E., Merico D., Barbosa M., Merikangas A., Klei L., Thiruvahindrapuram B., Xu X., Ziman R., Wang Z., et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. Am J Hum Genet 2014, 94:677-694.
-
(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
Thiruvahindrapuram, B.7
Xu, X.8
Ziman, R.9
Wang, Z.10
-
13
-
-
84942113437
-
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
-
Sanders S.J., He X., Willsey A.J., Ercan-Sencicek A.G., Samocha K.E., Cicek A.E., Murtha M.T., Bal V.H., Bishop S.L., Dong S., et al. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron 2015, 87:1215-1233. 10.1016/j.neuron.2015.09.016.
-
(2015)
Neuron
, vol.87
, pp. 1215-1233
-
-
Sanders, S.J.1
He, X.2
Willsey, A.J.3
Ercan-Sencicek, A.G.4
Samocha, K.E.5
Cicek, A.E.6
Murtha, M.T.7
Bal, V.H.8
Bishop, S.L.9
Dong, S.10
-
14
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar R.A., KaraMohamed S., Sudi J., Conrad D.F., Brune C., Badner J.A., Gilliam T.C., Nowak N.J., Cook E.H., Dobyns W.B., et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
KaraMohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook, E.H.9
Dobyns, W.B.10
-
15
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A., Green T., et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
-
(2008)
N Engl J Med
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.9
Green, T.10
-
16
-
-
84962571945
-
Cross-disorder comparison of four neuropsychiatric CNV loci
-
Moreno-De-Luca D., Moreno-De-Luca A., Cubells J.F., Sanders S.J. Cross-disorder comparison of four neuropsychiatric CNV loci. Curr Genet Med Rep 2014, 2:1-11.
-
(2014)
Curr Genet Med Rep
, vol.2
, pp. 1-11
-
-
Moreno-De-Luca, D.1
Moreno-De-Luca, A.2
Cubells, J.F.3
Sanders, S.J.4
-
17
-
-
67349101629
-
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
-
Van der Aa N., Rooms L., Vandeweyer G., van den Ende J., Reyniers E., Fichera M., Romano C., Delle Chiaie B., Mortier G., Menten B., et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009, 52:94-100.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 94-100
-
-
Van der Aa, N.1
Rooms, L.2
Vandeweyer, G.3
van den Ende, J.4
Reyniers, E.5
Fichera, M.6
Romano, C.7
Delle Chiaie, B.8
Mortier, G.9
Menten, B.10
-
18
-
-
34547660213
-
Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
-
Berg J.S., Brunetti-Pierri N., Peters S.U., Kang S.H., Fong C.T., Salamone J., Freedenberg D., Hannig V.L., Prock L.A., Miller D.T., et al. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med 2007, 9:427-441.
-
(2007)
Genet Med
, vol.9
, pp. 427-441
-
-
Berg, J.S.1
Brunetti-Pierri, N.2
Peters, S.U.3
Kang, S.H.4
Fong, C.T.5
Salamone, J.6
Freedenberg, D.7
Hannig, V.L.8
Prock, L.A.9
Miller, D.T.10
-
19
-
-
34250819573
-
Autism, language delay and mental retardation in a patient with 7q11 duplication
-
Depienne C., Heron D., Betancur C., Benyahia B., Trouillard O., Bouteiller D., Verloes A., LeGuern E., Leboyer M., Brice A. Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet 2007, 44:452-458.
-
(2007)
J Med Genet
, vol.44
, pp. 452-458
-
-
Depienne, C.1
Heron, D.2
Betancur, C.3
Benyahia, B.4
Trouillard, O.5
Bouteiller, D.6
Verloes, A.7
LeGuern, E.8
Leboyer, M.9
Brice, A.10
-
20
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders S.J., Murtha M.T., Gupta A.R., Murdoch J.D., Raubeson M.J., Willsey A.J., Ercan-Sencicek A.G., DiLullo N.M., Parikshak N.N., Stein J.L., et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
-
(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
Ercan-Sencicek, A.G.7
DiLullo, N.M.8
Parikshak, N.N.9
Stein, J.L.10
-
21
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov I., Ronemus M., Levy D., Wang Z., Hakker I., Rosenbaum J., Yamrom B., Lee Y-h Narzisi G., Leotta A., et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
-
(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
Yamrom, B.7
Lee Y-h Narzisi, G.8
Leotta, A.9
-
22
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov I., O'Roak B.J., Sanders S.J., Ronemus M., Krumm N., Levy D., Stessman H.A., Witherspoon K.T., Vives L., Patterson K.E., 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
Stessman, H.A.7
Witherspoon, K.T.8
Vives, L.9
Patterson, K.E.10
-
23
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale B.M., Kou Y., Liu L., Ma'ayan A., Samocha K.E., Sabo A., Lin C.F., Stevens C., Wang L.S., Makarov V., 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
Lin, C.F.7
Stevens, C.8
Wang, L.S.9
Makarov, V.10
-
24
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak B.J., Vives L., Girirajan S., Karakoc E., Krumm N., Coe B.P., Levy R., Ko A., Lee C., Smith J.D., 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
Levy, R.7
Ko, A.8
Lee, C.9
Smith, J.D.10
-
25
-
-
84907982955
-
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
-
Dong S., Walker M.F., Carriero N.J., DiCola M., Willsey A.J., Ye A.Y., Waqar Z., Gonzalez L.E., Overton J.D., Frahm S., 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
Waqar, Z.7
Gonzalez, L.E.8
Overton, J.D.9
Frahm, S.10
-
26
-
-
0032104190
-
A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance
-
Nagy E., Maquat L.E. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998, 23:198-199.
-
(1998)
Trends Biochem Sci
, vol.23
, pp. 198-199
-
-
Nagy, E.1
Maquat, L.E.2
-
27
-
-
84884620245
-
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
-
He X., Sanders S.J., Liu L., De Rubeis S., Lim E.T., Sutcliffe J.S., Schellenberg G.D., Gibbs R.A., Daly M.J., Buxbaum J.D., et al. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 2013, 9:e1003671.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003671
-
-
He, X.1
Sanders, S.J.2
Liu, L.3
De Rubeis, S.4
Lim, E.T.5
Sutcliffe, J.S.6
Schellenberg, G.D.7
Gibbs, R.A.8
Daly, M.J.9
Buxbaum, J.D.10
-
28
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis S., He X., Goldberg A.P., Poultney C.S., Samocha K., Cicek A.E., Kou Y., Liu L., Fromer M., Walker S., 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
Kou, Y.7
Liu, L.8
Fromer, M.9
Walker, S.10
-
29
-
-
84889583293
-
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
-
Willsey A.J., Sanders S.J., Li M., Dong S., Tebbenkamp A.T., Muhle R.A., Reilly S.K., Lin L., Fertuzinhos S., Miller J.A., 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
Reilly, S.K.7
Lin, L.8
Fertuzinhos, S.9
Miller, J.A.10
-
30
-
-
84927176500
-
Cystic fibrosis genetics: from molecular understanding to clinical application
-
Cutting G.R. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet 2015, 16:45-56.
-
(2015)
Nat Rev Genet
, vol.16
, pp. 45-56
-
-
Cutting, G.R.1
-
31
-
-
84862274500
-
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
-
Schmeisser M.J., Ey E., Wegener S., Bockmann J., Stempel A.V., Kuebler A., Janssen A.L., Udvardi P.T., Shiban E., Spilker C., et al. Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2. Nature 2012, 486:256-260.
-
(2012)
Nature
, vol.486
, pp. 256-260
-
-
Schmeisser, M.J.1
Ey, E.2
Wegener, S.3
Bockmann, J.4
Stempel, A.V.5
Kuebler, A.6
Janssen, A.L.7
Udvardi, P.T.8
Shiban, E.9
Spilker, C.10
-
32
-
-
84904004407
-
Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors
-
Rothwell P.E., Fuccillo M.V., Maxeiner S., Hayton S.J., Gokce O., Lim B.K., Fowler S.C., Malenka R.C., Südhof T.C. Autism-associated neuroligin-3 mutations commonly impair striatal circuits to boost repetitive behaviors. Cell 2014, 158:198-212.
-
(2014)
Cell
, vol.158
, pp. 198-212
-
-
Rothwell, P.E.1
Fuccillo, M.V.2
Maxeiner, S.3
Hayton, S.J.4
Gokce, O.5
Lim, B.K.6
Fowler, S.C.7
Malenka, R.C.8
Südhof, T.C.9
-
33
-
-
84892620880
-
CNVs conferring risk of autism or schizophrenia affect cognition in controls
-
Stefansson H., Meyer-Lindenberg A., Steinberg S., Magnusdottir B., Morgen K., Arnarsdottir S., Bjornsdottir G., Walters G.B., Jonsdottir G.A., Doyle O.M., et al. CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 2014, 505:361-366.
-
(2014)
Nature
, vol.505
, pp. 361-366
-
-
Stefansson, H.1
Meyer-Lindenberg, A.2
Steinberg, S.3
Magnusdottir, B.4
Morgen, K.5
Arnarsdottir, S.6
Bjornsdottir, G.7
Walters, G.B.8
Jonsdottir, G.A.9
Doyle, O.M.10
-
34
-
-
84875237809
-
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
-
Moreno-De-Luca A., Myers S.M., Challman T.D., Moreno-De-Luca D., Evans D.W., Ledbetter D.H. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. Lancet Neurol 2013, 12:406-414.
-
(2013)
Lancet Neurol
, vol.12
, pp. 406-414
-
-
Moreno-De-Luca, A.1
Myers, S.M.2
Challman, T.D.3
Moreno-De-Luca, D.4
Evans, D.W.5
Ledbetter, D.H.6
-
35
-
-
84871969762
-
Large-scale association analysis identifies new risk loci for coronary artery disease
-
Deloukas P., Kanoni S., Willenborg C., Farrall M., Assimes T.L., Thompson J.R., Ingelsson E., Saleheen D., Erdmann J., Goldstein B.A., et al. Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet 2013, 45:25-33.
-
(2013)
Nat Genet
, vol.45
, pp. 25-33
-
-
Deloukas, P.1
Kanoni, S.2
Willenborg, C.3
Farrall, M.4
Assimes, T.L.5
Thompson, J.R.6
Ingelsson, E.7
Saleheen, D.8
Erdmann, J.9
Goldstein, B.A.10
-
36
-
-
84866081948
-
Neuroscience, The emerging biology of autism spectrum disorders
-
State M.W., Šestan N. Neuroscience, The emerging biology of autism spectrum disorders. Science 2012, 337:1301-1303.
-
(2012)
Science
, vol.337
, pp. 1301-1303
-
-
State, M.W.1
Šestan, N.2
-
37
-
-
79952313620
-
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
-
Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 2011, 1380:42-77.
-
(2011)
Brain Res
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
38
-
-
79960779323
-
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
-
Darnell J.C., Van Driesche S.J., Zhang C., Hung K.Y., Mele A., Fraser C.E., Stone E.F., Chen C., Fak J.J., Chi S.W., et al. FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 2011, 146:247-261.
-
(2011)
Cell
, vol.146
, pp. 247-261
-
-
Darnell, J.C.1
Van Driesche, S.J.2
Zhang, C.3
Hung, K.Y.4
Mele, A.5
Fraser, C.E.6
Stone, E.F.7
Chen, C.8
Fak, J.J.9
Chi, S.W.10
-
39
-
-
84904635209
-
Disruptive CHD8 mutations define a subtype of autism early in development
-
Bernier R., Golzio C., Xiong B., Stessman H.A., Coe B.P., Penn O., Witherspoon K., Gerdts J., Baker C., Vulto-van Silfhout A.T., et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014, 158:263-276.
-
(2014)
Cell
, vol.158
, pp. 263-276
-
-
Bernier, R.1
Golzio, C.2
Xiong, B.3
Stessman, H.A.4
Coe, B.P.5
Penn, O.6
Witherspoon, K.7
Gerdts, J.8
Baker, C.9
Vulto-van Silfhout, A.T.10
-
40
-
-
84871413198
-
FMRP targets distinct mRNA sequence elements to regulate protein expression
-
Ascano M., Mukherjee N., Bandaru P., Miller J.B., Nusbaum J.D., Corcoran D.L., Langlois C., Munschauer M., Dewell S., Hafner M., et al. FMRP targets distinct mRNA sequence elements to regulate protein expression. Nature 2012, 492:382-386.
-
(2012)
Nature
, vol.492
, pp. 382-386
-
-
Ascano, M.1
Mukherjee, N.2
Bandaru, P.3
Miller, J.B.4
Nusbaum, J.D.5
Corcoran, D.L.6
Langlois, C.7
Munschauer, M.8
Dewell, S.9
Hafner, M.10
-
41
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
O'Roak B.J., Vives L., Fu W., Egertson J.D., Stanaway I.B., Phelps I.G., Carvill G., Kumar A., Lee C., Ankenman K., et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012, 338:1619-1622.
-
(2012)
Science
, vol.338
, pp. 1619-1622
-
-
O'Roak, B.J.1
Vives, L.2
Fu, W.3
Egertson, J.D.4
Stanaway, I.B.5
Phelps, I.G.6
Carvill, G.7
Kumar, A.8
Lee, C.9
Ankenman, K.10
-
42
-
-
84908065133
-
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
-
Sugathan A., Biagioli M., Golzio C., Erdin S., Blumenthal I., Manavalan P., Ragavendran A., Brand H., Lucente D., Miles J., et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A 2014, 111:E4468-E4477.
-
(2014)
Proc Natl Acad Sci U S A
, vol.111
, pp. E4468-E4477
-
-
Sugathan, A.1
Biagioli, M.2
Golzio, C.3
Erdin, S.4
Blumenthal, I.5
Manavalan, P.6
Ragavendran, A.7
Brand, H.8
Lucente, D.9
Miles, J.10
-
43
-
-
84924567722
-
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
-
Cotney J., Muhle R.A., Sanders S.J., Liu L., Willsey A.J., Niu W., Liu W., Klei L., Lei J., Yin J., et al. The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment. Nat Commun 2015, 6:6404.
-
(2015)
Nat Commun
, vol.6
, pp. 6404
-
-
Cotney, J.1
Muhle, R.A.2
Sanders, S.J.3
Liu, L.4
Willsey, A.J.5
Niu, W.6
Liu, W.7
Klei, L.8
Lei, J.9
Yin, J.10
-
44
-
-
84921626820
-
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders
-
Li J., Shi M., Ma Z., Zhao S., Euskirchen G., Ziskin J., Urban A., Hallmayer J., Snyder M. Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. Mol Syst Biol 2014, 10:774.
-
(2014)
Mol Syst Biol
, vol.10
, pp. 774
-
-
Li, J.1
Shi, M.2
Ma, Z.3
Zhao, S.4
Euskirchen, G.5
Ziskin, J.6
Urban, A.7
Hallmayer, J.8
Snyder, M.9
-
45
-
-
84899472749
-
DAWN: A framework to identify autism genes and subnetworks using gene expression and genetics
-
Liu L., Lei J., Sanders S.J., Willsey A.J., Kou Y., Cicek A.E., Klei L., Lu C., He X., Li M., 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
Klei, L.7
Lu, C.8
He, X.9
Li, M.10
-
46
-
-
84923186910
-
Genotype to phenotype relationships in autism spectrum disorders
-
Chang J., Gilman S.R., Chiang A.H., Sanders S.J., Vitkup D. Genotype to phenotype relationships in autism spectrum disorders. Nat Neurosci 2015, 18:191-198.
-
(2015)
Nat Neurosci
, vol.18
, pp. 191-198
-
-
Chang, J.1
Gilman, S.R.2
Chiang, A.H.3
Sanders, S.J.4
Vitkup, D.5
-
47
-
-
84892720695
-
Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders
-
Xu X., Wells A.B., O'Brien D.R., Nehorai A., Dougherty J.D. Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders. J Neurosci 2014, 34:1420-1431.
-
(2014)
J Neurosci
, vol.34
, pp. 1420-1431
-
-
Xu, X.1
Wells, A.B.2
O'Brien, D.R.3
Nehorai, A.4
Dougherty, J.D.5
-
48
-
-
58149178561
-
AutDB: a gene reference resource for autism research
-
Basu S.N., Kollu R., Banerjee-Basu S. AutDB: a gene reference resource for autism research. Nucleic Acids Res 2009, 37:D832-D836.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. D832-D836
-
-
Basu, S.N.1
Kollu, R.2
Banerjee-Basu, S.3
-
49
-
-
41949118715
-
Network properties of genes harboring inherited disease mutations
-
Feldman I., Rzhetsky A., Vitkup D. Network properties of genes harboring inherited disease mutations. Proc Natl Acad Sci U S A 2008, 105:4323-4328.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 4323-4328
-
-
Feldman, I.1
Rzhetsky, A.2
Vitkup, D.3
-
50
-
-
79958035893
-
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
-
Gilman S.R., Iossifov I., Levy D., Ronemus M., Wigler M., Vitkup D. Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 2011, 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
Vitkup, D.6
-
51
-
-
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., Marks S., Lakshmi B., Pai D., Ye K., et al. Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 2011, 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
Kendall, J.6
Marks, S.7
Lakshmi, B.8
Pai, D.9
Ye, K.10
-
52
-
-
55449103144
-
Application of a translational profiling approach for the comparative analysis of CNS cell types
-
Doyle J.P., Dougherty J.D., Heiman M., Schmidt E.F., Stevens T.R., Ma G., Bupp S., Shrestha P., Shah R.D., Doughty M.L., et al. Application of a translational profiling approach for the comparative analysis of CNS cell types. Cell 2008, 135:749-762.
-
(2008)
Cell
, vol.135
, pp. 749-762
-
-
Doyle, J.P.1
Dougherty, J.D.2
Heiman, M.3
Schmidt, E.F.4
Stevens, T.R.5
Ma, G.6
Bupp, S.7
Shrestha, P.8
Shah, R.D.9
Doughty, M.L.10
-
53
-
-
80054993342
-
Spatio-temporal transcriptome of the human brain
-
Kang H.J., Kawasawa Y.I., Cheng F., Zhu Y., Xu X., Li M., Sousa A.M., Pletikos M., Meyer K.A., Sedmak G., et al. Spatio-temporal transcriptome of the human brain. Nature 2011, 478:483-489.
-
(2011)
Nature
, vol.478
, pp. 483-489
-
-
Kang, H.J.1
Kawasawa, Y.I.2
Cheng, F.3
Zhu, Y.4
Xu, X.5
Li, M.6
Sousa, A.M.7
Pletikos, M.8
Meyer, K.A.9
Sedmak, G.10
-
54
-
-
23944458138
-
A general framework for weighted gene co-expression network analysis
-
Zhang B., Horvath S. A general framework for weighted gene co-expression network analysis. Stat Appl Genet Mol Biol 2005, 4. Article17.
-
(2005)
Stat Appl Genet Mol Biol
, vol.4
-
-
Zhang, B.1
Horvath, S.2
-
55
-
-
84884669130
-
Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism
-
Ben-David E., Shifman S. Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism. Mol Psychiatry 2013, 18:1054-1056.
-
(2013)
Mol Psychiatry
, vol.18
, pp. 1054-1056
-
-
Ben-David, E.1
Shifman, S.2
-
56
-
-
84900303453
-
Transcriptional landscape of the prenatal human brain
-
Miller J.A., Ding S.L., Sunkin S.M., Smith K.A., Ng L., Szafer A., Ebbert A., Riley Z.L., Royall J.J., Aiona K., et al. Transcriptional landscape of the prenatal human brain. Nature 2014, 508:199-206.
-
(2014)
Nature
, vol.508
, pp. 199-206
-
-
Miller, J.A.1
Ding, S.L.2
Sunkin, S.M.3
Smith, K.A.4
Ng, L.5
Szafer, A.6
Ebbert, A.7
Riley, Z.L.8
Royall, J.J.9
Aiona, K.10
-
57
-
-
84889561601
-
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
-
Parikshak N.N., Luo R., Zhang A., Won H., Lowe J.K., Chandran V., Horvath S., Geschwind D.H. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 2013, 155:1008-1021.
-
(2013)
Cell
, vol.155
, pp. 1008-1021
-
-
Parikshak, N.N.1
Luo, R.2
Zhang, A.3
Won, H.4
Lowe, J.K.5
Chandran, V.6
Horvath, S.7
Geschwind, D.H.8
-
58
-
-
84884929362
-
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
-
Abrahams B.S., Arking D.E., Campbell D.B., Mefford H.C., Morrow E.M., Weiss L.A., Menashe I., Wadkins T., Banerjee-Basu S., Packer A. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism 2013, 4:36.
-
(2013)
Mol Autism
, vol.4
, pp. 36
-
-
Abrahams, B.S.1
Arking, D.E.2
Campbell, D.B.3
Mefford, H.C.4
Morrow, E.M.5
Weiss, L.A.6
Menashe, I.7
Wadkins, T.8
Banerjee-Basu, S.9
Packer, A.10
-
59
-
-
84863338226
-
Transcriptional architecture of the primate neocortex
-
Bernard A., Lubbers L.S., Tanis K.Q., Luo R., Podtelezhnikov A.A., Finney E.M., McWhorter M.M., Serikawa K., Lemon T., Morgan R., et al. Transcriptional architecture of the primate neocortex. Neuron 2012, 73:1083-1099.
-
(2012)
Neuron
, vol.73
, pp. 1083-1099
-
-
Bernard, A.1
Lubbers, L.S.2
Tanis, K.Q.3
Luo, R.4
Podtelezhnikov, A.A.5
Finney, E.M.6
McWhorter, M.M.7
Serikawa, K.8
Lemon, T.9
Morgan, R.10
-
60
-
-
84925451823
-
Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
-
Lin G.N., Corominas R., Lemmens I., Yang X., Tavernier J., Hill D.E., Vidal M., Sebat J., Iakoucheva L.M. Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. Neuron 2015, 85:742-754.
-
(2015)
Neuron
, vol.85
, pp. 742-754
-
-
Lin, G.N.1
Corominas, R.2
Lemmens, I.3
Yang, X.4
Tavernier, J.5
Hill, D.E.6
Vidal, M.7
Sebat, J.8
Iakoucheva, L.M.9
-
61
-
-
79959262465
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
-
Voineagu I., Wang X., Johnston P., Lowe J.K., Tian Y., Horvath S., Mill J., Cantor R.M., Blencowe B.J., Geschwind D.H. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011, 474:380-384.
-
(2011)
Nature
, vol.474
, pp. 380-384
-
-
Voineagu, I.1
Wang, X.2
Johnston, P.3
Lowe, J.K.4
Tian, Y.5
Horvath, S.6
Mill, J.7
Cantor, R.M.8
Blencowe, B.J.9
Geschwind, D.H.10
-
62
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang K., Zhang H., Ma D., Bucan M., Glessner J.T., Abrahams B.S., Salyakina D., Imielinski M., Bradfield J.P., Sleiman P.M., et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459:528-533.
-
(2009)
Nature
, vol.459
, pp. 528-533
-
-
Wang, K.1
Zhang, H.2
Ma, D.3
Bucan, M.4
Glessner, J.T.5
Abrahams, B.S.6
Salyakina, D.7
Imielinski, M.8
Bradfield, J.P.9
Sleiman, P.M.10
-
63
-
-
84923384915
-
Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism
-
Gupta S., Ellis S.E., Ashar F.N., Moes A., Bader J.S., Zhan J., West A.B., Arking D.E. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nat Commun 2014, 5:5748.
-
(2014)
Nat Commun
, vol.5
, pp. 5748
-
-
Gupta, S.1
Ellis, S.E.2
Ashar, F.N.3
Moes, A.4
Bader, J.S.5
Zhan, J.6
West, A.B.7
Arking, D.E.8
-
64
-
-
84892508843
-
The neurobiology of autism spectrum disorders
-
Parellada M., Penzol M.J., Pina L., Moreno C., González-Vioque E., Zalsman G., Arango C. The neurobiology of autism spectrum disorders. Eur Psychiatry 2014, 29:11-19.
-
(2014)
Eur Psychiatry
, vol.29
, pp. 11-19
-
-
Parellada, M.1
Penzol, M.J.2
Pina, L.3
Moreno, C.4
González-Vioque, E.5
Zalsman, G.6
Arango, C.7
-
65
-
-
84896718770
-
Neurobiology of autism gene products: towards pathogenesis and drug targets
-
Kleijer K.T., Schmeisser M.J., Krueger D.D., Boeckers T.M., Scheiffele P., Bourgeron T., Brose N., Burbach J.P. Neurobiology of autism gene products: towards pathogenesis and drug targets. Psychopharmacology (Berl) 2014, 231:1037-1062.
-
(2014)
Psychopharmacology (Berl)
, vol.231
, pp. 1037-1062
-
-
Kleijer, K.T.1
Schmeisser, M.J.2
Krueger, D.D.3
Boeckers, T.M.4
Scheiffele, P.5
Bourgeron, T.6
Brose, N.7
Burbach, J.P.8
-
66
-
-
77949465117
-
Alpha thalassemia major - new mutations, intrauterine management, and outcomes
-
Vichinsky E.P. Alpha thalassemia major - new mutations, intrauterine management, and outcomes. Hematology Am Soc Hematol Educ Program 2009, 3:5-41.
-
(2009)
Hematology Am Soc Hematol Educ Program
, vol.3
, pp. 5-41
-
-
Vichinsky, E.P.1
-
67
-
-
79952315521
-
Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment
-
Choi C.H., Schoenfeld B.P., Bell A.J., Hinchey P., Kollaros M., Gertner M.J., Woo N.H., Tranfaglia M.R., Bear M.F., Zukin R.S., et al. Pharmacological reversal of synaptic plasticity deficits in the mouse model of fragile X syndrome by group II mGluR antagonist or lithium treatment. Brain Res 2011, 1380:106-119.
-
(2011)
Brain Res
, vol.1380
, pp. 106-119
-
-
Choi, C.H.1
Schoenfeld, B.P.2
Bell, A.J.3
Hinchey, P.4
Kollaros, M.5
Gertner, M.J.6
Woo, N.H.7
Tranfaglia, M.R.8
Bear, M.F.9
Zukin, R.S.10
-
68
-
-
84859628864
-
Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice
-
Michalon A., Sidorov M., Ballard T.M., Ozmen L., Spooren W., Wettstein J.G., Jaeschke G., Bear M.F., Lindemann L. Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice. Neuron 2012, 74:49-56.
-
(2012)
Neuron
, vol.74
, pp. 49-56
-
-
Michalon, A.1
Sidorov, M.2
Ballard, T.M.3
Ozmen, L.4
Spooren, W.5
Wettstein, J.G.6
Jaeschke, G.7
Bear, M.F.8
Lindemann, L.9
-
69
-
-
84869861822
-
Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice
-
Gantois I., Pop A.S., de Esch C.E., Buijsen R.A., Pooters T., Gomez-Mancilla B., Gasparini F., Oostra B.A., D'Hooge R., Willemsen R. Chronic administration of AFQ056/Mavoglurant restores social behaviour in Fmr1 knockout mice. Behav Brain Res 2013, 239:72-79.
-
(2013)
Behav Brain Res
, vol.239
, pp. 72-79
-
-
Gantois, I.1
Pop, A.S.2
de Esch, C.E.3
Buijsen, R.A.4
Pooters, T.5
Gomez-Mancilla, B.6
Gasparini, F.7
Oostra, B.A.8
D'Hooge, R.9
Willemsen, R.10
-
70
-
-
84896713573
-
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant
-
Pop A.S., Levenga J., de Esch C.E., Buijsen R.A., Nieuwenhuizen I.M., Li T., Isaacs A., Gasparini F., Oostra B.A., Willemsen R. Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant. Psychopharmacology (Berl) 2014, 231:1227-1235.
-
(2014)
Psychopharmacology (Berl)
, vol.231
, pp. 1227-1235
-
-
Pop, A.S.1
Levenga, J.2
de Esch, C.E.3
Buijsen, R.A.4
Nieuwenhuizen, I.M.5
Li, T.6
Isaacs, A.7
Gasparini, F.8
Oostra, B.A.9
Willemsen, R.10
-
71
-
-
84920546031
-
PDE-4 inhibition rescues aberrant synaptic plasticity in Drosophila and mouse models of fragile X syndrome
-
Choi C.H., Schoenfeld B.P., Weisz E.D., Bell A.J., Chambers D.B., Hinchey J., Choi R.J., Hinchey P., Kollaros M., Gertner M.J., et al. PDE-4 inhibition rescues aberrant synaptic plasticity in Drosophila and mouse models of fragile X syndrome. J Neurosci 2015, 35:396-408.
-
(2015)
J Neurosci
, vol.35
, pp. 396-408
-
-
Choi, C.H.1
Schoenfeld, B.P.2
Weisz, E.D.3
Bell, A.J.4
Chambers, D.B.5
Hinchey, J.6
Choi, R.J.7
Hinchey, P.8
Kollaros, M.9
Gertner, M.J.10
-
72
-
-
84870529525
-
Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
-
Gilman S.R., Chang J., Xu B., Bawa T.S., Gogos J.A., Karayiorgou M., Vitkup D. Diverse types of genetic variation converge on functional gene networks involved in schizophrenia. Nat Neurosci 2012, 15:1723-1728.
-
(2012)
Nat Neurosci
, vol.15
, pp. 1723-1728
-
-
Gilman, S.R.1
Chang, J.2
Xu, B.3
Bawa, T.S.4
Gogos, J.A.5
Karayiorgou, M.6
Vitkup, D.7
|