-
2
-
-
84943799823
-
Genetics and genomics of autism spectrum disorder: embracing complexity
-
26188008
-
De Rubeis S, Buxbaum JD. Genetics and genomics of autism spectrum disorder: embracing complexity. Hum Mol Genet. 2015;24:R24-31.
-
(2015)
Hum Mol Genet
, vol.24
, pp. R24-R31
-
-
De Rubeis, S.1
Buxbaum, J.D.2
-
3
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
21572417 311569
-
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011;43:585-9.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
Girirajan, S.6
-
4
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
1:CAS:528:DC%2BC38XmtFGgt7k%3D 22542183 3619976
-
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
-
5
-
-
84871595000
-
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
-
1:CAS:528:DC%2BC38XhvVymurvO 23260136 3712641
-
Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, et al. Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell. 2012;151:1431-42.
-
(2012)
Cell
, vol.151
, pp. 1431-1442
-
-
Michaelson, J.J.1
Shi, Y.2
Gujral, M.3
Zheng, H.4
Malhotra, D.5
Jin, X.6
-
6
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
1:CAS:528:DC%2BC38XmtVerurs%3D 22495311 3613847
-
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;485:242-5.
-
(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
-
7
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
1:CAS:528:DC%2BC38XlslSisr8%3D 22495306 3667984
-
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
-
8
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
22495309 3350576
-
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;485:246-50.
-
(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
-
9
-
-
84881664021
-
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
-
1:CAS:528:DC%2BC3sXhtV2rt7vE 23849776 3738824
-
Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013;93:249-63.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 249-263
-
-
Jiang, Y.H.1
Yuen, R.K.2
Jin, X.3
Wang, M.4
Chen, N.5
Wu, X.6
-
10
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
25363760 4402723
-
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;515:209-15.
-
(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
-
11
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
1:CAS:528:DC%2BC2cXhvVemtrnN 25363768 4313871
-
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;515:216-21.
-
(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
-
12
-
-
84930082024
-
Excess of rare, inherited truncating mutations in autism
-
1:CAS:528:DC%2BC2MXht1Wltb7N 25961944
-
Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, et al. Excess of rare, inherited truncating mutations in autism. Nat Genet. 2015;47:582-8.
-
(2015)
Nat Genet
, vol.47
, pp. 582-588
-
-
Krumm, N.1
Turner, T.N.2
Baker, C.3
Vives, L.4
Mohajeri, K.5
Witherspoon, K.6
-
13
-
-
84942113437
-
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
-
1:CAS:528:DC%2BC2MXhsFGhu7%2FN 26402605
-
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, et al. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015;87:1215-33.
-
(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
-
14
-
-
84893708713
-
A de novo convergence of autism genetics and molecular neuroscience
-
1:CAS:528:DC%2BC2cXisVCruw%3D%3D 24387789 4077788
-
Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends Neurosci. 2014;37:95-105.
-
(2014)
Trends Neurosci
, vol.37
, pp. 95-105
-
-
Krumm, N.1
O'Roak, B.J.2
Shendure, J.3
Eichler, E.E.4
-
15
-
-
84904635209
-
Disruptive CHD8 mutations define a subtype of autism early in development
-
1:CAS:528:DC%2BC2cXhtFWgtbbM 24998929 4136921
-
Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 2014;158:263-76.
-
(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
-
16
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
23160955 3528801
-
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012;338:1619-22.
-
(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
-
17
-
-
84884674769
-
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait
-
23746936 3772969
-
Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, et al. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry. 2013;74:576-84.
-
(2013)
Biol Psychiatry
, vol.74
, pp. 576-584
-
-
Chaste, P.1
Klei, L.2
Sanders, S.J.3
Murtha, M.T.4
Hus, V.5
Lowe, J.K.6
-
18
-
-
34147158728
-
The Chd family of chromatin remodelers
-
1:CAS:528:DC%2BD2sXksFahuro%3D 17350655 1899158
-
Marfella CG, Imbalzano AN. The Chd family of chromatin remodelers. Mutat Res. 2007;618:30-40.
-
(2007)
Mutat Res
, vol.618
, pp. 30-40
-
-
Marfella, C.G.1
Imbalzano, A.N.2
-
19
-
-
84856803144
-
Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-beta-catenin signaling pathway
-
1:CAS:528:DC%2BC38XnvFOlsw%3D%3D 22083958 3255766
-
Nishiyama M, Skoultchi AI, Nakayama KI. Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-beta-catenin signaling pathway. Mol Cell Biol. 2012;32:501-12.
-
(2012)
Mol Cell Biol
, vol.32
, pp. 501-512
-
-
Nishiyama, M.1
Skoultchi, A.I.2
Nakayama, K.I.3
-
20
-
-
44949144048
-
CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes
-
1:CAS:528:DC%2BD1cXntFanurw%3D 18378692 2423111
-
Thompson BA, Tremblay V, Lin G, Bochar DA. CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. Mol Cell Biol. 2008;28:3894-904.
-
(2008)
Mol Cell Biol
, vol.28
, pp. 3894-3904
-
-
Thompson, B.A.1
Tremblay, V.2
Lin, G.3
Bochar, D.A.4
-
21
-
-
84880641966
-
CHD8 is an independent prognostic indicator that regulates Wnt/beta-catenin signaling and the cell cycle in gastric cancer
-
1:CAS:528:DC%2BC3sXhsVygurrP 23835524
-
Sawada G, Ueo H, Matsumura T, Uchi R, Ishibashi M, Mima K, et al. CHD8 is an independent prognostic indicator that regulates Wnt/beta-catenin signaling and the cell cycle in gastric cancer. Oncol Rep. 2013;30:1137-42.
-
(2013)
Oncol Rep
, vol.30
, pp. 1137-1142
-
-
Sawada, G.1
Ueo, H.2
Matsumura, T.3
Uchi, R.4
Ishibashi, M.5
Mima, K.6
-
22
-
-
79958199264
-
Synaptic Wnt signaling-a contributor to major psychiatric disorders?
-
21533542 3180925
-
Okerlund ND, Cheyette BN. Synaptic Wnt signaling-a contributor to major psychiatric disorders? J Neurodev Disord. 2011;3:162-74.
-
(2011)
J Neurodev Disord
, vol.3
, pp. 162-174
-
-
Okerlund, N.D.1
Cheyette, B.N.2
-
23
-
-
59649116006
-
CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis
-
1:CAS:528:DC%2BD1MXht1Oqtrk%3D 19151705 3132516
-
Nishiyama M, Oshikawa K, Tsukada Y, Nakagawa T, Iemura S, Natsume T, et al. CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis. Nat Cell Biol. 2009;11:172-82.
-
(2009)
Nat Cell Biol
, vol.11
, pp. 172-182
-
-
Nishiyama, M.1
Oshikawa, K.2
Tsukada, Y.3
Nakagawa, T.4
Iemura, S.5
Natsume, T.6
-
24
-
-
84895779640
-
The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes
-
1:CAS:528:DC%2BC2cXjtlOrtbk%3D 24265227 3936757
-
Subtil-Rodriguez A, Vazquez-Chavez E, Ceballos-Chavez M, Rodriguez-Paredes M, Martin-Subero JI, Esteller M, et al. The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes. Nucleic Acids Res. 2014;42:2185-96.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 2185-2196
-
-
Subtil-Rodriguez, A.1
Vazquez-Chavez, E.2
Ceballos-Chavez, M.3
Rodriguez-Paredes, M.4
Martin-Subero, J.I.5
Esteller, M.6
-
25
-
-
84908065133
-
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
-
1:CAS:528:DC%2BC2cXhslSrt73P 25294932 4210312
-
Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, et al. CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A. 2014;111:E4468-4477.
-
(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
-
26
-
-
84924567722
-
The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
-
1:CAS:528:DC%2BC2MXosVCrsL4%3D 25752243 4355952
-
Cotney J, Muhle RA, Sanders SJ, Liu L, Willsey AJ, Niu W, 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
-
27
-
-
84990990192
-
The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes
-
1:CAS:528:DC%2BC2MXotVeqt7w%3D 25989142 4471293
-
Wilkinson B, Grepo N, Thompson BL, Kim J, Wang K, Evgrafov OV, et al. The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. Transl Psychiatry. 2015;5:e568.
-
(2015)
Transl Psychiatry
, vol.5
, pp. e568
-
-
Wilkinson, B.1
Grepo, N.2
Thompson, B.L.3
Kim, J.4
Wang, K.5
Evgrafov, O.V.6
-
28
-
-
84930319247
-
The chromatin Remodeler CHD8 is required for activation of progesterone receptor-dependent enhancers
-
25894978 4403880
-
Ceballos-Chavez M, Subtil-Rodriguez A, Giannopoulou EG, Soronellas D, Vazquez-Chavez E, Vicent GP, et al. The chromatin Remodeler CHD8 is required for activation of progesterone receptor-dependent enhancers. PLoS Genet. 2015;11:e1005174.
-
(2015)
PLoS Genet
, vol.11
-
-
Ceballos-Chavez, M.1
Subtil-Rodriguez, A.2
Giannopoulou, E.G.3
Soronellas, D.4
Vazquez-Chavez, E.5
Vicent, G.P.6
-
29
-
-
65849197551
-
The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene
-
1:CAS:528:DC%2BD1MXlsleqs7w%3D 19255092 2677868
-
Rodriguez-Paredes M, Ceballos-Chavez M, Esteller M, Garcia-Dominguez M, Reyes JC. The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene. Nucleic Acids Res. 2009;37:2449-60.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 2449-2460
-
-
Rodriguez-Paredes, M.1
Ceballos-Chavez, M.2
Esteller, M.3
Garcia-Dominguez, M.4
Reyes, J.C.5
-
30
-
-
84887010498
-
Genome engineering using the CRISPR-Cas9 system
-
1:CAS:528:DC%2BC2cXjvFajsA%3D%3D 24157548 3969860
-
Ran FA, Hsu PD, Wright J, Agarwala V, Scott DA, Zhang F. Genome engineering using the CRISPR-Cas9 system. Nat Protoc. 2013;8:2281-308.
-
(2013)
Nat Protoc
, vol.8
, pp. 2281-2308
-
-
Ran, F.A.1
Hsu, P.D.2
Wright, J.3
Agarwala, V.4
Scott, D.A.5
Zhang, F.6
-
31
-
-
84940780822
-
MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del
-
26173148 4501820
-
Zhao D, Lin M, Chen J, Pedrosa E, Hrabovsky A, Fourcade HM, et al. MicroRNA Profiling of Neurons Generated Using Induced Pluripotent Stem Cells Derived from Patients with Schizophrenia and Schizoaffective Disorder, and 22q11.2 Del. PLoS One. 2015;10:e0132387.
-
(2015)
PLoS One
, vol.10
-
-
Zhao, D.1
Lin, M.2
Chen, J.3
Pedrosa, E.4
Hrabovsky, A.5
Fourcade, H.M.6
-
32
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
1:CAS:528:DC%2BC3cXhtFeru7jM 20644199 2928508
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20:1297-303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
-
33
-
-
77956534324
-
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
-
20601685 2938201
-
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.
-
(2010)
Nucleic Acids Res
, vol.38
, pp. e164
-
-
Wang, K.1
Li, M.2
Hakonarson, H.3
-
34
-
-
84865839318
-
Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disorders
-
1:CAS:528:DC%2BC38XhtlSlsbjO 22952857 3431331
-
Lin M, Hrabovsky A, Pedrosa E, Wang T, Zheng D, Lachman HM. Allele-biased expression in differentiating human neurons: implications for neuropsychiatric disorders. PLoS One. 2012;7:e44017.
-
(2012)
PLoS One
, vol.7
-
-
Lin, M.1
Hrabovsky, A.2
Pedrosa, E.3
Wang, T.4
Zheng, D.5
Lachman, H.M.6
-
35
-
-
80052536392
-
RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders
-
1:CAS:528:DC%2BC3MXht1ChsLnO 21915259 3168439
-
Lin M, Pedrosa E, Shah A, Hrabovsky A, Maqbool S, Zheng D, et al. RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders. PLoS One. 2011;6:e23356.
-
(2011)
PLoS One
, vol.6
-
-
Lin, M.1
Pedrosa, E.2
Shah, A.3
Hrabovsky, A.4
Maqbool, S.5
Zheng, D.6
-
36
-
-
84887804756
-
-
CRISPR design [ http://crispr.mit.edu/ ]
-
CRISPR design
-
-
-
37
-
-
78149488365
-
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
-
1:CAS:528:DC%2BC3cXhsVahtbrE 21074045 3003590
-
Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, et al. A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell. 2010;143:527-39.
-
(2010)
Cell
, vol.143
, pp. 527-539
-
-
Marchetto, M.C.1
Carromeu, C.2
Acab, A.3
Yu, D.4
Yeo, G.W.5
Mu, Y.6
-
38
-
-
84876996918
-
TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
-
23618408 4053844
-
Kim D, Pertea G, Trapnell C, Pimentel H, Kelley R, Salzberg SL. TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol. 2013;14:R36.
-
(2013)
Genome Biol
, vol.14
, pp. R36
-
-
Kim, D.1
Pertea, G.2
Trapnell, C.3
Pimentel, H.4
Kelley, R.5
Salzberg, S.L.6
-
39
-
-
84865760395
-
GENCODE: the reference human genome annotation for The ENCODE Project
-
1:CAS:528:DC%2BC38XhtlentLvN 22955987 3431492
-
Harrow J, Frankish A, Gonzalez JM, Tapanari E, Diekhans M, Kokocinski F, et al. GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res. 2012;22:1760-74.
-
(2012)
Genome Res
, vol.22
, pp. 1760-1774
-
-
Harrow, J.1
Frankish, A.2
Gonzalez, J.M.3
Tapanari, E.4
Diekhans, M.5
Kokocinski, F.6
-
40
-
-
84944398245
-
-
Picard [ http://broadinstitute.github.io/picard/ ]
-
Picard
-
-
-
41
-
-
84859885816
-
Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
-
1:CAS:528:DC%2BC38Xjt1Cjsrc%3D 22383036 3334321
-
Trapnell C, Roberts A, Goff L, Pertea G, Kim D, Kelley DR, et al. Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks. Nat Protoc. 2012;7:562-78.
-
(2012)
Nat Protoc
, vol.7
, pp. 562-578
-
-
Trapnell, C.1
Roberts, A.2
Goff, L.3
Pertea, G.4
Kim, D.5
Kelley, D.R.6
-
42
-
-
84924629414
-
Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2
-
25516281 4302049
-
Love MI, Huber W, Anders S. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. 2014;15:550.
-
(2014)
Genome Biol
, vol.15
, pp. 550
-
-
Love, M.I.1
Huber, W.2
Anders, S.3
-
43
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
1:CAS:528:DC%2BD1cXhsFCkurnI
-
da Huang W, Sherman BT, Lempicki RA. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc. 2009;4:44-57.
-
(2009)
Nat Protoc
, vol.4
, pp. 44-57
-
-
Da Huang, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
44
-
-
58549112996
-
Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
-
2615629
-
da Huang W, Sherman BT, Lempicki RA. Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res. 2009;37:1-13.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 1-13
-
-
Da Huang, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
45
-
-
84944392164
-
-
IPA [ http://www.qiagen.com/ingenuity ]
-
-
-
IPA1
-
46
-
-
67849130563
-
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
-
1:CAS:528:DC%2BD1MXosFSrs7g%3D 19465376 2703978
-
Chen J, Bardes EE, Aronow BJ, Jegga AG. ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res. 2009;37:W305-311.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. W305-W311
-
-
Chen, J.1
Bardes, E.E.2
Aronow, B.J.3
Jegga, A.G.4
-
47
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
2079
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2079;25:2078.
-
Bioinformatics
, vol.25
, pp. 2078
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
-
48
-
-
84884826708
-
Transcriptome comparison of human neurons generated using induced pluripotent stem cells derived from dental pulp and skin fibroblasts
-
1:CAS:528:DC%2BC3sXhsF2ku7zJ 24098394 3789755
-
Chen J, Lin M, Foxe JJ, Pedrosa E, Hrabovsky A, Carroll R, et al. Transcriptome comparison of human neurons generated using induced pluripotent stem cells derived from dental pulp and skin fibroblasts. PLoS One. 2013;8:e75682.
-
(2013)
PLoS One
, vol.8
-
-
Chen, J.1
Lin, M.2
Foxe, J.J.3
Pedrosa, E.4
Hrabovsky, A.5
Carroll, R.6
-
49
-
-
84928398433
-
ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin
-
25905630 4408091
-
Chen J, Lin M, Hrabovsky A, Pedrosa E, Dean J, Jain S, et al. ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin. PLoS One. 2015;10:e0124597.
-
(2015)
PLoS One
, vol.10
-
-
Chen, J.1
Lin, M.2
Hrabovsky, A.3
Pedrosa, E.4
Dean, J.5
Jain, S.6
-
50
-
-
84941051170
-
STRING v10: protein-protein interaction networks, integrated over the tree of life
-
25352553 4383874
-
Szklarczyk D, Franceschini A, Wyder S, Forslund K, Heller D, Huerta-Cepas J, et al. STRING v10: protein-protein interaction networks, integrated over the tree of life. Nucleic Acids Res. 2015;43:D447-452.
-
(2015)
Nucleic Acids Res
, vol.43
, pp. D447-D452
-
-
Szklarczyk, D.1
Franceschini, A.2
Wyder, S.3
Forslund, K.4
Heller, D.5
Huerta-Cepas, J.6
-
51
-
-
84922396236
-
Molecular convergence of neurodevelopmental disorders
-
1:CAS:528:DC%2BC2cXhslelsrbJ 25307298 4225591
-
Chen ES, Gigek CO, Rosenfeld JA, Diallo AB, Maussion G, Chen GG, et al. Molecular convergence of neurodevelopmental disorders. Am J Hum Genet. 2014;95:490-508.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 490-508
-
-
Chen, E.S.1
Gigek, C.O.2
Rosenfeld, J.A.3
Diallo, A.B.4
Maussion, G.5
Chen, G.G.6
-
52
-
-
84990937732
-
A molecular model for neurodevelopmental disorders
-
1:CAS:528:DC%2BC2MXotVeqt7s%3D 25966365 4471287
-
Gigek CO, Chen ES, Ota VK, Maussion G, Peng H, Vaillancourt K, et al. A molecular model for neurodevelopmental disorders. Transl Psychiatry. 2015;5:e565.
-
(2015)
Transl Psychiatry
, vol.5
, pp. e565
-
-
Gigek, C.O.1
Chen, E.S.2
Ota, V.K.3
Maussion, G.4
Peng, H.5
Vaillancourt, K.6
-
53
-
-
0242490780
-
Cytoscape: a software environment for integrated models of biomolecular interaction networks
-
1:CAS:528:DC%2BD3sXovFWrtr4%3D 14597658 403769
-
Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D, et al. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res. 2003;13:2498-504.
-
(2003)
Genome Res
, vol.13
, pp. 2498-2504
-
-
Shannon, P.1
Markiel, A.2
Ozier, O.3
Baliga, N.S.4
Wang, J.T.5
Ramage, D.6
-
54
-
-
84944388018
-
-
SFARI [ https://gene.sfari.org/autdb/GS-Home.do ]
-
-
-
SFARI1
-
55
-
-
84862224852
-
AutismKB: an evidence-based knowledgebase of autism genetics
-
1:CAS:528:DC%2BC3MXhs12htbnM 22139918 3245106
-
Xu LM, Li JR, Huang Y, Zhao M, Tang X, Wei L. AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Res. 2012;40:D1016-1022.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. D1016-D1022
-
-
Xu, L.M.1
Li, J.R.2
Huang, Y.3
Zhao, M.4
Tang, X.5
Wei, L.6
-
56
-
-
84889583293
-
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
-
1:CAS:528:DC%2BC3sXhvFWis7zP 24267886 3995413
-
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
-
57
-
-
84899472749
-
DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics
-
24602502 4016412
-
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
-
58
-
-
46249104490
-
Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
-
1:CAS:528:DC%2BD1cXnslKku7w%3D 18583979
-
Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ, et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet. 2008;40:827-34.
-
(2008)
Nat Genet
, vol.40
, pp. 827-834
-
-
Allen, N.C.1
Bagade, S.2
McQueen, M.B.3
Ioannidis, J.P.4
Kavvoura, F.K.5
Khoury, M.J.6
-
59
-
-
84904804929
-
Biological insights from 108 schizophrenia-associated genetic loci
-
Schizophrenia Working Group of the Psychiatric Genomics C. Biological insights from 108 schizophrenia-associated genetic loci. Nature. 2014;511:421-7.
-
(2014)
Nature
, vol.511
, pp. 421-427
-
-
-
60
-
-
33845432928
-
Adjusting batch effects in microarray expression data using empirical Bayes methods
-
16632515
-
Johnson WE, Li C, Rabinovic A. Adjusting batch effects in microarray expression data using empirical Bayes methods. Biostatistics. 2007;8:118-27.
-
(2007)
Biostatistics
, vol.8
, pp. 118-127
-
-
Johnson, W.E.1
Li, C.2
Rabinovic, A.3
-
61
-
-
64549104807
-
ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks
-
1:CAS:528:DC%2BD1MXksVeiu74%3D 19237447 2666812
-
Bindea G, Mlecnik B, Hackl H, Charoentong P, Tosolini M, Kirilovsky A, et al. ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks. Bioinformatics. 2009;25:1091-3.
-
(2009)
Bioinformatics
, vol.25
, pp. 1091-1093
-
-
Bindea, G.1
Mlecnik, B.2
Hackl, H.3
Charoentong, P.4
Tosolini, M.5
Kirilovsky, A.6
-
62
-
-
41349115432
-
The DAVID Gene Functional Classification Tool: a novel biological module-centric algorithm to functionally analyze large gene lists
-
17784955 2375021
-
Huang DW, Sherman BT, Tan Q, Collins JR, Alvord WG, Roayaei J, et al. The DAVID Gene Functional Classification Tool: a novel biological module-centric algorithm to functionally analyze large gene lists. Genome Biol. 2007;8:R183.
-
(2007)
Genome Biol
, vol.8
, pp. R183
-
-
Huang, D.W.1
Sherman, B.T.2
Tan, Q.3
Collins, J.R.4
Alvord, W.G.5
Roayaei, J.6
-
63
-
-
84944388685
-
-
R [ http://www.R-project.org/ ]
-
-
-
-
64
-
-
77957555139
-
Refining the phenotype associated with MEF2C haploinsufficiency
-
1:CAS:528:DC%2BC3cXhsVCrtbjE 20412115
-
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, et al. Refining the phenotype associated with MEF2C haploinsufficiency. Clin Genet. 2010;78:471-7.
-
(2010)
Clin Genet
, vol.78
, pp. 471-477
-
-
Novara, F.1
Beri, S.2
Giorda, R.3
Ortibus, E.4
Nageshappa, S.5
Darra, F.6
-
65
-
-
67651213461
-
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome
-
1:STN:280:DC%2BD1MvpvV2lsw%3D%3D 19598235
-
Chakrabarti B, Dudbridge F, Kent L, Wheelwright S, Hill-Cawthorne G, Allison C, et al. Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome. Autism Res. 2009;2:157-77.
-
(2009)
Autism Res
, vol.2
, pp. 157-177
-
-
Chakrabarti, B.1
Dudbridge, F.2
Kent, L.3
Wheelwright, S.4
Hill-Cawthorne, G.5
Allison, C.6
-
66
-
-
84883740518
-
Topoisomerases facilitate transcription of long genes linked to autism
-
1:CAS:528:DC%2BC3sXhtlCnsLjM 23995680 3767287
-
King IF, Yandava CN, Mabb AM, Hsiao JS, Huang HS, Pearson BL, et al. Topoisomerases facilitate transcription of long genes linked to autism. Nature. 2013;501:58-62.
-
(2013)
Nature
, vol.501
, pp. 58-62
-
-
King, I.F.1
Yandava, C.N.2
Mabb, A.M.3
Hsiao, J.S.4
Huang, H.S.5
Pearson, B.L.6
-
67
-
-
84926395609
-
Common genetic variants influence human subcortical brain structures
-
1:CAS:528:DC%2BC2MXht1Omsbc%3D 25607358 4393366
-
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivieres S, Jahanshad N, et al. Common genetic variants influence human subcortical brain structures. Nature. 2015;520:224-9.
-
(2015)
Nature
, vol.520
, pp. 224-229
-
-
Hibar, D.P.1
Stein, J.L.2
Renteria, M.E.3
Arias-Vasquez, A.4
Desrivieres, S.5
Jahanshad, N.6
-
68
-
-
84860351742
-
Identification of common variants associated with human hippocampal and intracranial volumes
-
1:CAS:528:DC%2BC38XlsFSqu7k%3D 22504417 3635491
-
Stein JL, Medland SE, Vasquez AA, Hibar DP, Senstad RE, Winkler AM, et al. Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet. 2012;44:552-61.
-
(2012)
Nat Genet
, vol.44
, pp. 552-561
-
-
Stein, J.L.1
Medland, S.E.2
Vasquez, A.A.3
Hibar, D.P.4
Senstad, R.E.5
Winkler, A.M.6
-
69
-
-
84860324077
-
Common variants at 12q15 and 12q24 are associated with infant head circumference
-
1:CAS:528:DC%2BC38XlsFSqu7g%3D 22504419 3773913
-
Taal HR, St Pourcain B, Thiering E, Das S, Mook-Kanamori DO, Warrington NM, et al. Common variants at 12q15 and 12q24 are associated with infant head circumference. Nat Genet. 2012;44:532-8.
-
(2012)
Nat Genet
, vol.44
, pp. 532-538
-
-
Taal, H.R.1
St Pourcain, B.2
Thiering, E.3
Das, S.4
Mook-Kanamori, D.O.5
Warrington, N.M.6
-
70
-
-
80052425641
-
Control of neuronal morphology by the atypical cadherin Fat3
-
1:CAS:528:DC%2BC3MXhtFKjtLvJ 21903076 3521586
-
Deans MR, Krol A, Abraira VE, Copley CO, Tucker AF, Goodrich LV. Control of neuronal morphology by the atypical cadherin Fat3. Neuron. 2011;71:820-32.
-
(2011)
Neuron
, vol.71
, pp. 820-832
-
-
Deans, M.R.1
Krol, A.2
Abraira, V.E.3
Copley, C.O.4
Tucker, A.F.5
Goodrich, L.V.6
-
71
-
-
80054993342
-
Spatio-temporal transcriptome of the human brain
-
1:CAS:528:DC%2BC3MXhtlOnur%2FL 22031440 3566780
-
Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. Spatio-temporal transcriptome of the human brain. Nature. 2011;478:483-9.
-
(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
-
72
-
-
84901246368
-
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
-
1:CAS:528:DC%2BC2cXntlejtr0%3D 24776741 4031262
-
McCarthy SE, Gillis J, Kramer M, Lihm J, Yoon S, Berstein Y, et al. De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. Mol Psychiatry. 2014;19:652-8.
-
(2014)
Mol Psychiatry
, vol.19
, pp. 652-658
-
-
McCarthy, S.E.1
Gillis, J.2
Kramer, M.3
Lihm, J.4
Yoon, S.5
Berstein, Y.6
-
73
-
-
84866393094
-
Development, cognition, and behaviour in Pitt-Hopkins syndrome
-
22712893
-
Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. Development, cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol. 2012;54:925-31.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 925-931
-
-
Van Balkom, I.D.1
Vuijk, P.J.2
Franssens, M.3
Hoek, H.W.4
Hennekam, R.C.5
-
74
-
-
84860347597
-
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
-
1:CAS:528:DC%2BC38XlvFyju7c%3D 22521361 3340505
-
Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149:525-37.
-
(2012)
Cell
, vol.149
, pp. 525-537
-
-
Talkowski, M.E.1
Rosenfeld, J.A.2
Blumenthal, I.3
Pillalamarri, V.4
Chiang, C.5
Heilbut, A.6
-
75
-
-
84875424995
-
Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models
-
1:CAS:528:DC%2BC3sXlsVOksb8%3D 23536886 3607566
-
Zeng L, Zhang P, Shi L, Yamamoto V, Lu W, Wang K. Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models. PLoS One. 2013;8:e59685.
-
(2013)
PLoS One
, vol.8
-
-
Zeng, L.1
Zhang, P.2
Shi, L.3
Yamamoto, V.4
Lu, W.5
Wang, K.6
-
76
-
-
84937212591
-
FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
-
1:CAS:528:DC%2BC2MXht1KgtLrN 26186191
-
Mariani J, Coppola G, Zhang P, Abyzov A, Provini L, Tomasini L, et al. FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders. Cell. 2015;162:375-90.
-
(2015)
Cell
, vol.162
, pp. 375-390
-
-
Mariani, J.1
Coppola, G.2
Zhang, P.3
Abyzov, A.4
Provini, L.5
Tomasini, L.6
-
77
-
-
84899669003
-
Heat shock alters the expression of schizophrenia and autism candidate genes in an induced pluripotent stem cell model of the human telencephalon
-
24736721 3988108
-
Lin M, Zhao D, Hrabovsky A, Pedrosa E, Zheng D, Lachman HM. Heat shock alters the expression of schizophrenia and autism candidate genes in an induced pluripotent stem cell model of the human telencephalon. PLoS One. 2014;9:e94968.
-
(2014)
PLoS One
, vol.9
-
-
Lin, M.1
Zhao, D.2
Hrabovsky, A.3
Pedrosa, E.4
Zheng, D.5
Lachman, H.M.6
-
78
-
-
20244367771
-
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
-
1:CAS:528:DC%2BD2MXktFGgt78%3D 15805158 1736032
-
Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005;42:318-21.
-
(2005)
J Med Genet
, vol.42
, pp. 318-321
-
-
Butler, M.G.1
Dasouki, M.J.2
Zhou, X.P.3
Talebizadeh, Z.4
Brown, M.5
Takahashi, T.N.6
-
79
-
-
77950899212
-
Connecting genes to brain in the autism spectrum disorders
-
20385903 3645845
-
Abrahams BS, Geschwind DH. Connecting genes to brain in the autism spectrum disorders. Arch Neurol. 2010;67:395-9.
-
(2010)
Arch Neurol
, vol.67
, pp. 395-399
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
80
-
-
34247560106
-
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
-
1:CAS:528:DC%2BD2sXkvV2jsLk%3D 17436254 1852736
-
Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, et al. Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet. 2007;80:988-93.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 988-993
-
-
Amiel, J.1
Rio, M.2
De Pontual, L.3
Redon, R.4
Malan, V.5
Boddaert, N.6
-
81
-
-
84882960508
-
Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation
-
1:CAS:528:DC%2BC3sXhtl2iu7bF 24058414 3751932
-
Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ. Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation. PLoS One. 2013;8:e73169.
-
(2013)
PLoS One
, vol.8
-
-
Forrest, M.P.1
Waite, A.J.2
Martin-Rendon, E.3
Blake, D.J.4
-
82
-
-
84939482880
-
Genetic compensation induced by deleterious mutations but not gene knockdowns
-
1:CAS:528:DC%2BC2MXhtFylt7fL 26168398
-
Rossi A, Kontarakis Z, Gerri C, Nolte H, Holper S, Kruger M, et al. Genetic compensation induced by deleterious mutations but not gene knockdowns. Nature. 2015;524:230-3.
-
(2015)
Nature
, vol.524
, pp. 230-233
-
-
Rossi, A.1
Kontarakis, Z.2
Gerri, C.3
Nolte, H.4
Holper, S.5
Kruger, M.6
|