-
1
-
-
77950899212
-
Connecting genes to brain in the autism spectrum disorders
-
Abrahams, B.S., Geschwind, D.H., Connecting genes to brain in the autism spectrum disorders. Arch. Neurol. 67 (2010), 395–399.
-
(2010)
Arch. Neurol.
, vol.67
, pp. 395-399
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
2
-
-
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, 4, 2013, 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
-
3
-
-
84948741313
-
The PsychENCODE project
-
Akbarian, S., Liu, C., Knowles, J.A., Vaccarino, F.M., Farnham, P.J., Crawford, G.E., Jaffe, A.E., Pinto, D., Dracheva, S., Geschwind, D.H., et al., PsychENCODE Consortium. The PsychENCODE project. Nat. Neurosci. 18 (2015), 1707–1712.
-
(2015)
Nat. Neurosci.
, vol.18
, pp. 1707-1712
-
-
Akbarian, S.1
Liu, C.2
Knowles, J.A.3
Vaccarino, F.M.4
Farnham, P.J.5
Crawford, G.E.6
Jaffe, A.E.7
Pinto, D.8
Dracheva, S.9
Geschwind, D.H.10
-
4
-
-
84893973335
-
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning
-
Bae, B.I., Tietjen, I., Atabay, K.D., Evrony, G.D., Johnson, M.B., Asare, E., Wang, P.P., Murayama, A.Y., Im, K., Lisgo, S.N., et al. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science 343 (2014), 764–768.
-
(2014)
Science
, vol.343
, pp. 764-768
-
-
Bae, B.I.1
Tietjen, I.2
Atabay, K.D.3
Evrony, G.D.4
Johnson, M.B.5
Asare, E.6
Wang, P.P.7
Murayama, A.Y.8
Im, K.9
Lisgo, S.N.10
-
5
-
-
84859230726
-
The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development
-
Benadiba, C., Magnani, D., Niquille, M., Morlé, L., Valloton, D., Nawabi, H., Ait-Lounis, A., Otsmane, B., Reith, W., Theil, T., et al. The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development. PLoS Genet., 8, 2012, e1002606.
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002606
-
-
Benadiba, C.1
Magnani, D.2
Niquille, M.3
Morlé, L.4
Valloton, D.5
Nawabi, H.6
Ait-Lounis, A.7
Otsmane, B.8
Reith, W.9
Theil, T.10
-
6
-
-
77957940722
-
The NIH Roadmap Epigenomics Mapping Consortium
-
Bernstein, B.E., Stamatoyannopoulos, J.A., Costello, J.F., Ren, B., Milosavljevic, A., Meissner, A., Kellis, M., Marra, M.A., Beaudet, A.L., Ecker, J.R., et al. The NIH Roadmap Epigenomics Mapping Consortium. Nat. Biotechnol. 28 (2010), 1045–1048.
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 1045-1048
-
-
Bernstein, B.E.1
Stamatoyannopoulos, J.A.2
Costello, J.F.3
Ren, B.4
Milosavljevic, A.5
Meissner, A.6
Kellis, M.7
Marra, M.A.8
Beaudet, A.L.9
Ecker, J.R.10
-
7
-
-
0037316303
-
A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
-
Bolstad, B.M., Irizarry, R.A., Astrand, M., Speed, T.P., A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 19 (2003), 185–193.
-
(2003)
Bioinformatics
, vol.19
, pp. 185-193
-
-
Bolstad, B.M.1
Irizarry, R.A.2
Astrand, M.3
Speed, T.P.4
-
8
-
-
84939793826
-
From the genetic architecture to synaptic plasticity in autism spectrum disorder
-
Bourgeron, T., From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nat. Rev. Neurosci. 16 (2015), 551–563.
-
(2015)
Nat. Rev. Neurosci.
, vol.16
, pp. 551-563
-
-
Bourgeron, T.1
-
9
-
-
84865712382
-
Annotation of functional variation in personal genomes using RegulomeDB
-
Boyle, A.P., Hong, E.L., Hariharan, M., Cheng, Y., Schaub, M.A., Kasowski, M., Karczewski, K.J., Park, J., Hitz, B.C., Weng, S., et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22 (2012), 1790–1797.
-
(2012)
Genome Res.
, vol.22
, pp. 1790-1797
-
-
Boyle, A.P.1
Hong, E.L.2
Hariharan, M.3
Cheng, Y.4
Schaub, M.A.5
Kasowski, M.6
Karczewski, K.J.7
Park, J.8
Hitz, B.C.9
Weng, S.10
-
11
-
-
84893648772
-
What We Have Learned about Autism Spectrum Disorder from Valproic Acid
-
Chomiak, T., Turner, N., Hu, B., What We Have Learned about Autism Spectrum Disorder from Valproic Acid. Pathol. Res. Int., 2013, 2013, 712758.
-
(2013)
Pathol. Res. Int.
, vol.2013
, pp. 712758
-
-
Chomiak, T.1
Turner, N.2
Hu, B.3
-
12
-
-
84876564424
-
Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism
-
Christensen, J., Grønborg, T.K., Sørensen, M.J., Schendel, D., Parner, E.T., Pedersen, L.H., Vestergaard, M., Prenatal valproate exposure and risk of autism spectrum disorders and childhood autism. JAMA 309 (2013), 1696–1703.
-
(2013)
JAMA
, vol.309
, pp. 1696-1703
-
-
Christensen, J.1
Grønborg, T.K.2
Sørensen, M.J.3
Schendel, D.4
Parner, E.T.5
Pedersen, L.H.6
Vestergaard, M.7
-
13
-
-
78650758676
-
Histone H3K27ac separates active from poised enhancers and predicts developmental state
-
Creyghton, M.P., Cheng, A.W., Welstead, G.G., Kooistra, T., Carey, B.W., Steine, E.J., Hanna, J., Lodato, M.A., Frampton, G.M., Sharp, P.A., et al. Histone H3K27ac separates active from poised enhancers and predicts developmental state. Proc. Natl. Acad. Sci. USA 107 (2010), 21931–21936.
-
(2010)
Proc. Natl. Acad. Sci. USA
, vol.107
, pp. 21931-21936
-
-
Creyghton, M.P.1
Cheng, A.W.2
Welstead, G.G.3
Kooistra, T.4
Carey, B.W.5
Steine, E.J.6
Hanna, J.7
Lodato, M.A.8
Frampton, G.M.9
Sharp, P.A.10
-
14
-
-
84876296688
-
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis
-
Cross-Disorder Group of the Psychiatric Genomics Consortium. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381 (2013), 1371–1379.
-
(2013)
Lancet
, vol.381
, pp. 1371-1379
-
-
-
15
-
-
84962890386
-
Advancing the understanding of autism disease mechanisms through genetics
-
de la Torre-Ubieta, L., Won, H., Stein, J.L., Geschwind, D.H., Advancing the understanding of autism disease mechanisms through genetics. Nat. Med. 22 (2016), 345–361.
-
(2016)
Nat. Med.
, vol.22
, pp. 345-361
-
-
de la Torre-Ubieta, L.1
Won, H.2
Stein, J.L.3
Geschwind, D.H.4
-
16
-
-
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. DDD Study Homozygosity Mapping Collaborative for Autism, UK10K Consortium. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515 (2014), 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
-
17
-
-
84857111200
-
DNase I sensitivity QTLs are a major determinant of human expression variation
-
Degner, J.F., Pai, A.A., Pique-Regi, R., Veyrieras, J.-B.B., Gaffney, D.J., Pickrell, J.K., De Leon, S., Michelini, K., Lewellen, N., Crawford, G.E., et al. DNase I sensitivity QTLs are a major determinant of human expression variation. Nature 482 (2012), 390–394.
-
(2012)
Nature
, vol.482
, pp. 390-394
-
-
Degner, J.F.1
Pai, A.A.2
Pique-Regi, R.3
Veyrieras, J.-B.B.4
Gaffney, D.J.5
Pickrell, J.K.6
De Leon, S.7
Michelini, K.8
Lewellen, N.9
Crawford, G.E.10
-
18
-
-
84928924946
-
Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms
-
del Rosario, R.C., Poschmann, J., Rouam, S.L., Png, E., Khor, C.C., Hibberd, M.L., Prabhakar, S., Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms. Nat. Methods 12 (2015), 458–464.
-
(2015)
Nat. Methods
, vol.12
, pp. 458-464
-
-
del Rosario, R.C.1
Poschmann, J.2
Rouam, S.L.3
Png, E.4
Khor, C.C.5
Hibberd, M.L.6
Prabhakar, S.7
-
19
-
-
79955483667
-
A framework for variation discovery and genotyping using next-generation DNA sequencing data
-
DePristo, M.A., Banks, E., Poplin, R., Garimella, K.V., Maguire, J.R., Hartl, C., Philippakis, A.A., del Angel, G., Rivas, M.A., Hanna, M., et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43 (2011), 491–498.
-
(2011)
Nat. Genet.
, vol.43
, pp. 491-498
-
-
DePristo, M.A.1
Banks, E.2
Poplin, R.3
Garimella, K.V.4
Maguire, J.R.5
Hartl, C.6
Philippakis, A.A.7
del Angel, G.8
Rivas, M.A.9
Hanna, M.10
-
20
-
-
84862493260
-
Genetic architecture in autism spectrum disorder
-
Devlin, B., Scherer, S.W., Genetic architecture in autism spectrum disorder. Curr. Opin. Genet. Dev. 22 (2012), 229–237.
-
(2012)
Curr. Opin. Genet. Dev.
, vol.22
, pp. 229-237
-
-
Devlin, B.1
Scherer, S.W.2
-
21
-
-
79251578041
-
Distinct physiological and behavioural functions for parental alleles of imprinted Grb10
-
Garfield, A.S., Cowley, M., Smith, F.M., Moorwood, K., Stewart-Cox, J.E., Gilroy, K., Baker, S., Xia, J., Dalley, J.W., Hurst, L.D., et al. Distinct physiological and behavioural functions for parental alleles of imprinted Grb10. Nature 469 (2011), 534–538.
-
(2011)
Nature
, vol.469
, pp. 534-538
-
-
Garfield, A.S.1
Cowley, M.2
Smith, F.M.3
Moorwood, K.4
Stewart-Cox, J.E.5
Gilroy, K.6
Baker, S.7
Xia, J.8
Dalley, J.W.9
Hurst, L.D.10
-
22
-
-
84944146721
-
Gene hunting in autism spectrum disorder: on the path to precision medicine
-
Geschwind, D.H., State, M.W., Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 14 (2015), 1109–1120.
-
(2015)
Lancet Neurol.
, vol.14
, pp. 1109-1120
-
-
Geschwind, D.H.1
State, M.W.2
-
23
-
-
84872595085
-
Autism-related deficits via dysregulated eIF4E-dependent translational control
-
Gkogkas, C.G., Khoutorsky, A., Ran, I., Rampakakis, E., Nevarko, T., Weatherill, D.B., Vasuta, C., Yee, S., Truitt, M., Dallaire, P., et al. Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493 (2013), 371–377.
-
(2013)
Nature
, vol.493
, pp. 371-377
-
-
Gkogkas, C.G.1
Khoutorsky, A.2
Ran, I.3
Rampakakis, E.4
Nevarko, T.5
Weatherill, D.B.6
Vasuta, C.7
Yee, S.8
Truitt, M.9
Dallaire, P.10
-
24
-
-
84877695008
-
Environmental factors in autism
-
Grabrucker, A.M., Environmental factors in autism. Front. Psychiatry, 3, 2013, 118.
-
(2013)
Front. Psychiatry
, vol.3
, pp. 118
-
-
Grabrucker, A.M.1
-
25
-
-
84940391986
-
Genetic control of chromatin states in humans involves local and distal chromosomal interactions
-
Grubert, F., Zaugg, J.B., Kasowski, M., Ursu, O., Spacek, D.V., Martin, A.R., Greenside, P., Srivas, R., Phanstiel, D.H., Pekowska, A., et al. Genetic control of chromatin states in humans involves local and distal chromosomal interactions. Cell 162 (2015), 1051–1065.
-
(2015)
Cell
, vol.162
, pp. 1051-1065
-
-
Grubert, F.1
Zaugg, J.B.2
Kasowski, M.3
Ursu, O.4
Spacek, D.V.5
Martin, A.R.6
Greenside, P.7
Srivas, R.8
Phanstiel, D.H.9
Pekowska, A.10
-
26
-
-
0036193460
-
MEF2-mediated recruitment of class II HDAC at the EBV immediate early gene BZLF1 links latency and chromatin remodeling
-
Gruffat, H., Manet, E., Sergeant, A., MEF2-mediated recruitment of class II HDAC at the EBV immediate early gene BZLF1 links latency and chromatin remodeling. EMBO Rep. 3 (2002), 141–146.
-
(2002)
EMBO Rep.
, vol.3
, pp. 141-146
-
-
Gruffat, H.1
Manet, E.2
Sergeant, A.3
-
27
-
-
84875700729
-
A cell epigenotype specific model for the correction of brain cellular heterogeneity bias and its application to age, brain region and major depression
-
Guintivano, J., Aryee, M.J., Kaminsky, Z.A., A cell epigenotype specific model for the correction of brain cellular heterogeneity bias and its application to age, brain region and major depression. Epigenetics 8 (2013), 290–302.
-
(2013)
Epigenetics
, vol.8
, pp. 290-302
-
-
Guintivano, J.1
Aryee, M.J.2
Kaminsky, Z.A.3
-
28
-
-
84865760395
-
GENCODE: the reference human genome annotation for The ENCODE Project
-
Harrow, J., Frankish, A., Gonzalez, J.M., Tapanari, E., Diekhans, M., Kokocinski, F., Aken, B.L., Barrell, D., Zadissa, A., Searle, S., et al. GENCODE: the reference human genome annotation for The ENCODE Project. Genome Res. 22 (2012), 1760–1774.
-
(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
Aken, B.L.7
Barrell, D.8
Zadissa, A.9
Searle, S.10
-
29
-
-
65549104157
-
Histone modifications at human enhancers reflect global cell-type-specific gene expression
-
Heintzman, N.D., Hon, G.C., Hawkins, R.D., Kheradpour, P., Stark, A., Harp, L.F., Ye, Z., Lee, L.K., Stuart, R.K., Ching, C.W., et al. Histone modifications at human enhancers reflect global cell-type-specific gene expression. Nature 459 (2009), 108–112.
-
(2009)
Nature
, vol.459
, pp. 108-112
-
-
Heintzman, N.D.1
Hon, G.C.2
Hawkins, R.D.3
Kheradpour, P.4
Stark, A.5
Harp, L.F.6
Ye, Z.7
Lee, L.K.8
Stuart, R.K.9
Ching, C.W.10
-
30
-
-
77952567987
-
Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities
-
Heinz, S., Benner, C., Spann, N., Bertolino, E., Lin, Y.C., Laslo, P., Cheng, J.X., Murre, C., Singh, H., Glass, C.K., Simple combinations of lineage-determining transcription factors prime cis-regulatory elements required for macrophage and B cell identities. Mol. Cell 38 (2010), 576–589.
-
(2010)
Mol. Cell
, vol.38
, pp. 576-589
-
-
Heinz, S.1
Benner, C.2
Spann, N.3
Bertolino, E.4
Lin, Y.C.5
Laslo, P.6
Cheng, J.X.7
Murre, C.8
Singh, H.9
Glass, C.K.10
-
31
-
-
84887620842
-
A high-resolution map of the three-dimensional chromatin interactome in human cells
-
Jin, F., Li, Y., Dixon, J.R., Selvaraj, S., Ye, Z., Lee, A.Y., Yen, C.-A.A., Schmitt, A.D., Espinoza, C.A., Ren, B., A high-resolution map of the three-dimensional chromatin interactome in human cells. Nature 503 (2013), 290–294.
-
(2013)
Nature
, vol.503
, pp. 290-294
-
-
Jin, F.1
Li, Y.2
Dixon, J.R.3
Selvaraj, S.4
Ye, Z.5
Lee, A.Y.6
Yen, C.-A.A.7
Schmitt, A.D.8
Espinoza, C.A.9
Ren, B.10
-
32
-
-
0036079158
-
The human genome browser at UCSC
-
Kent, W.J., Sugnet, C.W., Furey, T.S., Roskin, K.M., Pringle, T.H., Zahler, A.M., Haussler, D., The human genome browser at UCSC. Genome Res. 12 (2002), 996–1006.
-
(2002)
Genome Res.
, vol.12
, pp. 996-1006
-
-
Kent, W.J.1
Sugnet, C.W.2
Furey, T.S.3
Roskin, K.M.4
Pringle, T.H.5
Zahler, A.M.6
Haussler, D.7
-
33
-
-
84930082024
-
Excess of rare, inherited truncating mutations in autism
-
Krumm, N., Turner, T.N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B.P., Stessman, H.A., He, Z.-X.X., et al. Excess of rare, inherited truncating mutations in autism. Nat. Genet. 47 (2015), 582–588.
-
(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
Raja, A.7
Coe, B.P.8
Stessman, H.A.9
He, Z.-X.X.10
-
34
-
-
84860227231
-
Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics
-
Kubota, T., Miyake, K., Hirasawa, T., Epigenetic understanding of gene-environment interactions in psychiatric disorders: a new concept of clinical genetics. Clin. Epigenetics, 4, 2012, 1.
-
(2012)
Clin. Epigenetics
, vol.4
, pp. 1
-
-
Kubota, T.1
Miyake, K.2
Hirasawa, T.3
-
35
-
-
84880310432
-
Uniform, optimal signal processing of mapped deep-sequencing data
-
Kumar, V., Muratani, M., Rayan, N.A., Kraus, P., Lufkin, T., Ng, H.H., Prabhakar, S., Uniform, optimal signal processing of mapped deep-sequencing data. Nat. Biotechnol. 31 (2013), 615–622.
-
(2013)
Nat. Biotechnol.
, vol.31
, pp. 615-622
-
-
Kumar, V.1
Muratani, M.2
Rayan, N.A.3
Kraus, P.4
Lufkin, T.5
Ng, H.H.6
Prabhakar, S.7
-
36
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li, H., Durbin, R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25 (2009), 1754–1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
37
-
-
48249090873
-
Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo
-
Li, H., Radford, J.C., Ragusa, M.J., Shea, K.L., McKercher, S.R., Zaremba, J.D., Soussou, W., Nie, Z., Kang, Y.J., Nakanishi, N., et al. Transcription factor MEF2C influences neural stem/progenitor cell differentiation and maturation in vivo. Proc. Natl. Acad. Sci. USA 105 (2008), 9397–9402.
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 9397-9402
-
-
Li, H.1
Radford, J.C.2
Ragusa, M.J.3
Shea, K.L.4
McKercher, S.R.5
Zaremba, J.D.6
Soussou, W.7
Nie, Z.8
Kang, Y.J.9
Nakanishi, N.10
-
38
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25 (2009), 2078–2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
39
-
-
84930619857
-
The role of epigenetic change in autism spectrum disorders
-
Loke, Y.J., Hannan, A.J., Craig, J.M., The role of epigenetic change in autism spectrum disorders. Front. Neurol., 6, 2015, 107.
-
(2015)
Front. Neurol.
, vol.6
, pp. 107
-
-
Loke, Y.J.1
Hannan, A.J.2
Craig, J.M.3
-
40
-
-
84936871460
-
Structural and functional features of central nervous system lymphatic vessels
-
Louveau, A., Smirnov, I., Keyes, T.J., Eccles, J.D., Rouhani, S.J., Peske, J.D., Derecki, N.C., Castle, D., Mandell, J.W., Lee, K.S., et al. Structural and functional features of central nervous system lymphatic vessels. Nature 523 (2015), 337–341.
-
(2015)
Nature
, vol.523
, pp. 337-341
-
-
Louveau, A.1
Smirnov, I.2
Keyes, T.J.3
Eccles, J.D.4
Rouhani, S.J.5
Peske, J.D.6
Derecki, N.C.7
Castle, D.8
Mandell, J.W.9
Lee, K.S.10
-
41
-
-
84906716826
-
Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease
-
Lunnon, K., Smith, R., Hannon, E., De Jager, P.L., Srivastava, G., Volta, M., Troakes, C., Al-Sarraj, S., Burrage, J., Macdonald, R., et al. Methylomic profiling implicates cortical deregulation of ANK1 in Alzheimer's disease. Nat. Neurosci. 17 (2014), 1164–1170.
-
(2014)
Nat. Neurosci.
, vol.17
, pp. 1164-1170
-
-
Lunnon, K.1
Smith, R.2
Hannon, E.3
De Jager, P.L.4
Srivastava, G.5
Volta, M.6
Troakes, C.7
Al-Sarraj, S.8
Burrage, J.9
Macdonald, R.10
-
42
-
-
84957436740
-
Risk factors in autism: thinking outside the brain
-
Matelski, L., Van de Water, J., Risk factors in autism: thinking outside the brain. J. Autoimmun. 67 (2016), 1–7.
-
(2016)
J. Autoimmun.
, vol.67
, pp. 1-7
-
-
Matelski, L.1
Van de Water, J.2
-
43
-
-
84976884426
-
JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles
-
Mathelier, A., Fornes, O., Arenillas, D.J., Chen, C.-Y.Y., Denay, G., Lee, J., Shi, W., Shyr, C., Tan, G., Worsley-Hunt, R., et al. JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles. Nucleic Acids Res. 44:D1 (2016), D110–D115.
-
(2016)
Nucleic Acids Res.
, vol.44
, Issue.D1
, pp. D110-D115
-
-
Mathelier, A.1
Fornes, O.2
Arenillas, D.J.3
Chen, C.-Y.Y.4
Denay, G.5
Lee, J.6
Shi, W.7
Shyr, C.8
Tan, G.9
Worsley-Hunt, R.10
-
44
-
-
33644876958
-
TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes
-
Matys, V., Kel-Margoulis, O.V., Fricke, E., Liebich, I., Land, S., Barre-Dirrie, A., Reuter, I., Chekmenev, D., Krull, M., Hornischer, K., et al. TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes. Nucleic Acids Res. 34 (2006), D108–D110.
-
(2006)
Nucleic Acids Res.
, vol.34
, pp. D108-D110
-
-
Matys, V.1
Kel-Margoulis, O.V.2
Fricke, E.3
Liebich, I.4
Land, S.5
Barre-Dirrie, A.6
Reuter, I.7
Chekmenev, D.8
Krull, M.9
Hornischer, K.10
-
45
-
-
84865822182
-
Systematic localization of common disease-associated variation in regulatory DNA
-
Maurano, M.T., Humbert, R., Rynes, E., Thurman, R.E., Haugen, E., Wang, H., Reynolds, A.P., Sandstrom, R., Qu, H., Brody, J., et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337 (2012), 1190–1195.
-
(2012)
Science
, vol.337
, pp. 1190-1195
-
-
Maurano, M.T.1
Humbert, R.2
Rynes, E.3
Thurman, R.E.4
Haugen, E.5
Wang, H.6
Reynolds, A.P.7
Sandstrom, R.8
Qu, H.9
Brody, J.10
-
46
-
-
84899816726
-
Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis
-
McElhanon, B.O., McCracken, C., Karpen, S., Sharp, W.G., Gastrointestinal symptoms in autism spectrum disorder: a meta-analysis. Pediatrics 133 (2014), 872–883.
-
(2014)
Pediatrics
, vol.133
, pp. 872-883
-
-
McElhanon, B.O.1
McCracken, C.2
Karpen, S.3
Sharp, W.G.4
-
47
-
-
77952214662
-
GREAT improves functional interpretation of cis-regulatory regions
-
McLean, C.Y., Bristor, D., Hiller, M., Clarke, S.L., Schaar, B.T., Lowe, C.B., Wenger, A.M., Bejerano, G., GREAT improves functional interpretation of cis-regulatory regions. Nat. Biotechnol. 28 (2010), 495–501.
-
(2010)
Nat. Biotechnol.
, vol.28
, pp. 495-501
-
-
McLean, C.Y.1
Bristor, D.2
Hiller, M.3
Clarke, S.L.4
Schaar, B.T.5
Lowe, C.B.6
Wenger, A.M.7
Bejerano, G.8
-
48
-
-
84880924522
-
From promises to practical strategies in epigenetic epidemiology
-
Mill, J., Heijmans, B.T., From promises to practical strategies in epigenetic epidemiology. Nat. Rev. Genet. 14 (2013), 585–594.
-
(2013)
Nat. Rev. Genet.
, vol.14
, pp. 585-594
-
-
Mill, J.1
Heijmans, B.T.2
-
49
-
-
84973279140
-
Association of DNA methylation differences with schizophrenia in an epigenome-wide association study
-
Montano, C., Taub, M.A., Jaffe, A., Briem, E., Feinberg, J.I., Trygvadottir, R., Idrizi, A., Runarsson, A., Berndsen, B., Gur, R.C., et al. Association of DNA methylation differences with schizophrenia in an epigenome-wide association study. JAMA Psychiatry 73 (2016), 506–514.
-
(2016)
JAMA Psychiatry
, vol.73
, pp. 506-514
-
-
Montano, C.1
Taub, M.A.2
Jaffe, A.3
Briem, E.4
Feinberg, J.I.5
Trygvadottir, R.6
Idrizi, A.7
Runarsson, A.8
Berndsen, B.9
Gur, R.C.10
-
50
-
-
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 485 (2012), 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
-
51
-
-
77957555139
-
Refining the phenotype associated with MEF2C haploinsufficiency
-
Novara, F., Beri, S., Giorda, R., Ortibus, E., Nageshappa, S., Darra, F., Dalla Bernardina, B., Zuffardi, O., Van Esch, H., Refining the phenotype associated with MEF2C haploinsufficiency. Clin. Genet. 78 (2010), 471–477.
-
(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
Dalla Bernardina, B.7
Zuffardi, O.8
Van Esch, H.9
-
52
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak, B.J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J.J., Girirajan, S., Karakoc, E., Mackenzie, A.P., Ng, S.B., Baker, C., et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat. Genet. 43 (2011), 585–589.
-
(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
Karakoc, E.7
Mackenzie, A.P.8
Ng, S.B.9
Baker, C.10
-
53
-
-
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 155 (2013), 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
-
54
-
-
84937520584
-
Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
-
Parikshak, N.N., Gandal, M.J., Geschwind, D.H., Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders. Nat. Rev. Genet. 16 (2015), 441–458.
-
(2015)
Nat. Rev. Genet.
, vol.16
, pp. 441-458
-
-
Parikshak, N.N.1
Gandal, M.J.2
Geschwind, D.H.3
-
55
-
-
85016140982
-
Genome-wide changes in lncRNA, alternative splicing, and cortical patterning in autism
-
Parikshak, N.N., Swarup, V., Belgard, T.G., Irimia, M., Ramaswami, G., Gandal, M.J., Hartl, C., Leppa, V., de la Torre Ubieta, L., Huang, J., et al. Genome-wide changes in lncRNA, alternative splicing, and cortical patterning in autism. Nature, 2016, 10.1038/nature20612.
-
(2016)
Nature
-
-
Parikshak, N.N.1
Swarup, V.2
Belgard, T.G.3
Irimia, M.4
Ramaswami, G.5
Gandal, M.J.6
Hartl, C.7
Leppa, V.8
de la Torre Ubieta, L.9
Huang, J.10
-
56
-
-
0030916336
-
What's up and down with histone deacetylation and transcription?
-
Pazin, M.J., Kadonaga, J.T., What's up and down with histone deacetylation and transcription?. Cell 89 (1997), 325–328.
-
(1997)
Cell
, vol.89
, pp. 325-328
-
-
Pazin, M.J.1
Kadonaga, J.T.2
-
57
-
-
84930965855
-
Tissue-specific regulation and function of Grb10 during growth and neuronal commitment
-
Plasschaert, R.N., Bartolomei, M.S., Tissue-specific regulation and function of Grb10 during growth and neuronal commitment. Proc. Natl. Acad. Sci. USA 112 (2015), 6841–6847.
-
(2015)
Proc. Natl. Acad. Sci. USA
, vol.112
, pp. 6841-6847
-
-
Plasschaert, R.N.1
Bartolomei, M.S.2
-
58
-
-
57049122389
-
A large genome center's improvements to the Illumina sequencing system
-
Quail, M.A., Kozarewa, I., Smith, F., Scally, A., Stephens, P.J., Durbin, R., Swerdlow, H., Turner, D.J., A large genome center's improvements to the Illumina sequencing system. Nat. Methods 5 (2008), 1005–1010.
-
(2008)
Nat. Methods
, vol.5
, pp. 1005-1010
-
-
Quail, M.A.1
Kozarewa, I.2
Smith, F.3
Scally, A.4
Stephens, P.J.5
Durbin, R.6
Swerdlow, H.7
Turner, D.J.8
-
59
-
-
84904804929
-
Biological insights from 108 schizophrenia-associated genetic loci
-
Ripke, S., Neale, B., Corvin, A., Walters, J., Farh, K.-H., Holmans, P., Lee, P., Bulik-Sullivan, B., Collier, D., Huang, H., et al., Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511 (2014), 421–427.
-
(2014)
Nature
, vol.511
, pp. 421-427
-
-
Ripke, S.1
Neale, B.2
Corvin, A.3
Walters, J.4
Farh, K.-H.5
Holmans, P.6
Lee, P.7
Bulik-Sullivan, B.8
Collier, D.9
Huang, H.10
-
60
-
-
84871280445
-
Evidence of microglial activation in autism and its possible role in brain underconnectivity
-
Rodriguez, J.I., Kern, J.K., Evidence of microglial activation in autism and its possible role in brain underconnectivity. Neuron Glia Biol. 7 (2011), 205–213.
-
(2011)
Neuron Glia Biol.
, vol.7
, pp. 205-213
-
-
Rodriguez, J.I.1
Kern, J.K.2
-
61
-
-
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 485 (2012), 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
-
62
-
-
84890256389
-
Channelopathy pathogenesis in autism spectrum disorders
-
Schmunk, G., Gargus, J.J., Channelopathy pathogenesis in autism spectrum disorders. Front. Genet., 4, 2013, 222.
-
(2013)
Front. Genet.
, vol.4
, pp. 222
-
-
Schmunk, G.1
Gargus, J.J.2
-
63
-
-
84863247768
-
Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons
-
Shulha, H.P., Cheung, I., Whittle, C., Wang, J., Virgil, D., Lin, C.L., Guo, Y., Lessard, A., Akbarian, S., Weng, Z., Epigenetic signatures of autism: trimethylated H3K4 landscapes in prefrontal neurons. Arch. Gen. Psychiatry 69 (2012), 314–324.
-
(2012)
Arch. Gen. Psychiatry
, vol.69
, pp. 314-324
-
-
Shulha, H.P.1
Cheung, I.2
Whittle, C.3
Wang, J.4
Virgil, D.5
Lin, C.L.6
Guo, Y.7
Lessard, A.8
Akbarian, S.9
Weng, Z.10
-
64
-
-
5344223383
-
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski, I., Timothy, K.W., Sharpe, L.M., Decher, N., Kumar, P., Bloise, R., Napolitano, C., Schwartz, P.J., Joseph, R.M., Condouris, K., et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119 (2004), 19–31.
-
(2004)
Cell
, vol.119
, pp. 19-31
-
-
Splawski, I.1
Timothy, K.W.2
Sharpe, L.M.3
Decher, N.4
Kumar, P.5
Bloise, R.6
Napolitano, C.7
Schwartz, P.J.8
Joseph, R.M.9
Condouris, K.10
-
65
-
-
84872714472
-
Rare inherited variation in autism: beginning to see the forest and a few trees
-
Stein, J.L., Parikshak, N.N., Geschwind, D.H., Rare inherited variation in autism: beginning to see the forest and a few trees. Neuron 77 (2013), 209–211.
-
(2013)
Neuron
, vol.77
, pp. 209-211
-
-
Stein, J.L.1
Parikshak, N.N.2
Geschwind, D.H.3
-
66
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
The 1000 Genomes Project Consortium, Abecasis, G.R., Auton, A., Brooks, L.D., DePristo, M.A., Durbin, R.M., Handsaker, R.E., Kang, H.M., Marth, G.T., McVean, G.A., An integrated map of genetic variation from 1,092 human genomes. Nature 491 (2012), 56–65.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
Brooks, L.D.3
DePristo, M.A.4
Durbin, R.M.5
Handsaker, R.E.6
Kang, H.M.7
Marth, G.T.8
McVean, G.A.9
-
68
-
-
84946481204
-
WASP: allele-specific software for robust molecular quantitative trait locus discovery
-
van de Geijn, B., McVicker, G., Gilad, Y., Pritchard, J.K., WASP: allele-specific software for robust molecular quantitative trait locus discovery. Nat. Methods 12 (2015), 1061–1063.
-
(2015)
Nat. Methods
, vol.12
, pp. 1061-1063
-
-
van de Geijn, B.1
McVicker, G.2
Gilad, Y.3
Pritchard, J.K.4
-
69
-
-
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 474 (2011), 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
-
70
-
-
84875921248
-
Reversing autism by targeting downstream mTOR signaling
-
Wang, H., Doering, L.C., Reversing autism by targeting downstream mTOR signaling. Front. Cell. Neurosci., 7, 2013, 28.
-
(2013)
Front. Cell. Neurosci.
, vol.7
, pp. 28
-
-
Wang, H.1
Doering, L.C.2
-
71
-
-
46249112085
-
Combinatorial patterns of histone acetylations and methylations in the human genome
-
Wang, Z., Zang, C., Rosenfeld, J.A., Schones, D.E., Barski, A., Cuddapah, S., Cui, K., Roh, T.-Y.Y., Peng, W., Zhang, M.Q., Zhao, K., Combinatorial patterns of histone acetylations and methylations in the human genome. Nat. Genet. 40 (2008), 897–903.
-
(2008)
Nat. Genet.
, vol.40
, pp. 897-903
-
-
Wang, Z.1
Zang, C.2
Rosenfeld, J.A.3
Schones, D.E.4
Barski, A.5
Cuddapah, S.6
Cui, K.7
Roh, T.-Y.Y.8
Peng, W.9
Zhang, M.Q.10
Zhao, K.11
-
72
-
-
77955584378
-
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems
-
Williams, S.R., Aldred, M.A., Der Kaloustian, V.M., Halal, F., Gowans, G., McLeod, D.R., Zondag, S., Toriello, H.V., Magenis, R.E., Elsea, S.H., Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am. J. Hum. Genet. 87 (2010), 219–228.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 219-228
-
-
Williams, S.R.1
Aldred, M.A.2
Der Kaloustian, V.M.3
Halal, F.4
Gowans, G.5
McLeod, D.R.6
Zondag, S.7
Toriello, H.V.8
Magenis, R.E.9
Elsea, S.H.10
-
73
-
-
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 155 (2013), 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
-
74
-
-
84875932665
-
Microglia, seen from the CX3CR1 angle
-
Wolf, Y., Yona, S., Kim, K.-W., Jung, S., Microglia, seen from the CX3CR1 angle. Front. Cell. Neurosci., 7, 2013, 26.
-
(2013)
Front. Cell. Neurosci.
, vol.7
, pp. 26
-
-
Wolf, Y.1
Yona, S.2
Kim, K.-W.3
Jung, S.4
-
75
-
-
25444446426
-
Histone deacetylase inhibitors suppress the induction of c-Jun and its target genes including COX-2
-
Yamaguchi, K., Lantowski, A., Dannenberg, A.J., Subbaramaiah, K., Histone deacetylase inhibitors suppress the induction of c-Jun and its target genes including COX-2. J. Biol. Chem. 280 (2005), 32569–32577.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 32569-32577
-
-
Yamaguchi, K.1
Lantowski, A.2
Dannenberg, A.J.3
Subbaramaiah, K.4
-
76
-
-
84859776084
-
Infantile zinc deficiency: association with autism spectrum disorders
-
Yasuda, H., Yoshida, K., Yasuda, Y., Tsutsui, T., Infantile zinc deficiency: association with autism spectrum disorders. Sci. Rep., 1, 2011, 129.
-
(2011)
Sci. Rep.
, vol.1
, pp. 129
-
-
Yasuda, H.1
Yoshida, K.2
Yasuda, Y.3
Tsutsui, T.4
-
77
-
-
84939507046
-
Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type
-
Yen, A., Kellis, M., Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type. Nat. Commun., 6, 2015, 7973.
-
(2015)
Nat. Commun.
, vol.6
, pp. 7973
-
-
Yen, A.1
Kellis, M.2
-
78
-
-
79958696336
-
Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling
-
Yu, Y., Yoon, S.-O.O., Poulogiannis, G., Yang, Q., Ma, X.M., Villén, J., Kubica, N., Hoffman, G.R., Cantley, L.C., Gygi, S.P., Blenis, J., Phosphoproteomic analysis identifies Grb10 as an mTORC1 substrate that negatively regulates insulin signaling. Science 332 (2011), 1322–1326.
-
(2011)
Science
, vol.332
, pp. 1322-1326
-
-
Yu, Y.1
Yoon, S.-O.O.2
Poulogiannis, G.3
Yang, Q.4
Ma, X.M.5
Villén, J.6
Kubica, N.7
Hoffman, G.R.8
Cantley, L.C.9
Gygi, S.P.10
Blenis, J.11
-
79
-
-
84896692474
-
Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior
-
Zhan, Y., Paolicelli, R.C., Sforazzini, F., Weinhard, L., Bolasco, G., Pagani, F., Vyssotski, A.L., Bifone, A., Gozzi, A., Ragozzino, D., Gross, C.T., Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior. Nat. Neurosci. 17 (2014), 400–406.
-
(2014)
Nat. Neurosci.
, vol.17
, pp. 400-406
-
-
Zhan, Y.1
Paolicelli, R.C.2
Sforazzini, F.3
Weinhard, L.4
Bolasco, G.5
Pagani, F.6
Vyssotski, A.L.7
Bifone, A.8
Gozzi, A.9
Ragozzino, D.10
Gross, C.T.11
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