-
2
-
-
84899784475
-
The familial risk of autism
-
Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, et al. (2014) The familial risk of autism. JAMA 311: 1770–1777. doi: 10.1001/jama.2014.4144 24794370
-
(2014)
JAMA
, vol.311
, pp. 1770-1777
-
-
Sandin, S.1
Lichtenstein, P.2
Kuja-Halkola, R.3
Larsson, H.4
Hultman, C.M.5
-
3
-
-
0028906338
-
Autism as a strongly genetic disorder: evidence from a British twin study
-
Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, et al. (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25: 63–77. 7792363
-
(1995)
Psychol Med
, vol.25
, pp. 63-77
-
-
Bailey, A.1
Le Couteur, A.2
Gottesman, I.3
Bolton, P.4
Simonoff, E.5
-
4
-
-
62549145367
-
The role of rare structural variants in the genetics of autism spectrum disorders
-
Kusenda M, Sebat J, (2008) The role of rare structural variants in the genetics of autism spectrum disorders. Cytogenet Genome Res 123: 36–43. doi: 10.1159/000184690 19287137
-
(2008)
Cytogenet Genome Res
, vol.123
, pp. 36-43
-
-
Kusenda, M.1
Sebat, J.2
-
5
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368–372. doi: 10.1038/nature09146 20531469
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
-
6
-
-
84884675916
-
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
-
Moreno-De-Luca D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, et al. (2013) Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry 18: 1090–1095. doi: 10.1038/mp.2012.138 23044707
-
(2013)
Mol Psychiatry
, vol.18
, pp. 1090-1095
-
-
Moreno-De-Luca, D.1
Sanders, S.J.2
Willsey, A.J.3
Mulle, J.G.4
Lowe, J.K.5
-
7
-
-
79958035893
-
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
-
Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, et al. (2011) Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 70: 898–907. doi: 10.1016/j.neuron.2011.05.021 21658583
-
(2011)
Neuron
, vol.70
, pp. 898-907
-
-
Gilman, S.R.1
Iossifov, I.2
Levy, D.3
Ronemus, M.4
Wigler, M.5
-
8
-
-
84859009895
-
Rare structural variation of synapse and neurotransmission genes in autism
-
Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, et al. (2012) Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry 17: 402–411. doi: 10.1038/mp.2011.10 21358714
-
(2012)
Mol Psychiatry
, vol.17
, pp. 402-411
-
-
Gai, X.1
Xie, H.M.2
Perin, J.C.3
Takahashi, N.4
Murphy, K.5
-
9
-
-
84879628427
-
Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism
-
Noh HJ, Ponting CP, Boulding HC, Meader S, Betancur C, et al. (2013) Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism. PLoS Genet 9: e1003523. doi: 10.1371/journal.pgen.1003523 23754953
-
(2013)
PLoS Genet
, vol.9
, pp. 1003523
-
-
Noh, H.J.1
Ponting, C.P.2
Boulding, H.C.3
Meader, S.4
Betancur, C.5
-
10
-
-
84890227659
-
The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies
-
Steinberg J, Webber C, (2013) The roles of FMRP-regulated genes in autism spectrum disorder: single- and multiple-hit genetic etiologies. Am J Hum Genet 93: 825–839. doi: 10.1016/j.ajhg.2013.09.013 24207117
-
(2013)
Am J Hum Genet
, vol.93
, pp. 825-839
-
-
Steinberg, J.1
Webber, C.2
-
11
-
-
84875237257
-
Drosophila strategies to study psychiatric disorders
-
van Alphen B, van Swinderen B, (2013) Drosophila strategies to study psychiatric disorders. Brain Res Bull 92: 1–11. doi: 10.1016/j.brainresbull.2011.09.007 21978945
-
(2013)
Brain Res Bull
, vol.92
, pp. 1-11
-
-
van Alphen, B.1
van Swinderen, B.2
-
12
-
-
77957731474
-
Selection, gene interaction, and flexible gene networks
-
Greenspan RJ, (2009) Selection, gene interaction, and flexible gene networks. Cold Spring Harb Symp Quant Biol 74: 131–138. doi: 10.1101/sqb.2009.74.029 19903749
-
(2009)
Cold Spring Harb Symp Quant Biol
, vol.74
, pp. 131-138
-
-
Greenspan, R.J.1
-
13
-
-
84890562372
-
Epistasis and quantitative traits: using model organisms to study gene-gene interactions
-
Mackay TF, (2014) Epistasis and quantitative traits: using model organisms to study gene-gene interactions. Nat Rev Genet 15: 22–33. doi: 10.1038/nrg3627 24296533
-
(2014)
Nat Rev Genet
, vol.15
, pp. 22-33
-
-
Mackay, T.F.1
-
14
-
-
33344455000
-
Genome-wide P-element screen for Drosophila synaptogenesis mutants
-
Liebl FL, Werner KM, Sheng Q, Karr JE, McCabe BD, et al. (2006) Genome-wide P-element screen for Drosophila synaptogenesis mutants. J Neurobiol 66: 332–347. 16408305
-
(2006)
J Neurobiol
, vol.66
, pp. 332-347
-
-
Liebl, F.L.1
Werner, K.M.2
Sheng, Q.3
Karr, J.E.4
McCabe, B.D.5
-
15
-
-
84855512490
-
Drosophila modeling of heritable neurodevelopmental disorders
-
Gatto CL, Broadie K, (2011) Drosophila modeling of heritable neurodevelopmental disorders. Curr Opin Neurobiol 21: 834–841. doi: 10.1016/j.conb.2011.04.009 21596554
-
(2011)
Curr Opin Neurobiol
, vol.21
, pp. 834-841
-
-
Gatto, C.L.1
Broadie, K.2
-
16
-
-
58749100670
-
The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches
-
Lu Y, Wang F, Li Y, Ferris J, Lee JA, et al. (2009) The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches. Hum Mol Genet 18: 454–462. doi: 10.1093/hmg/ddn373 18996915
-
(2009)
Hum Mol Genet
, vol.18
, pp. 454-462
-
-
Lu, Y.1
Wang, F.2
Li, Y.3
Ferris, J.4
Lee, J.A.5
-
17
-
-
6944247816
-
The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation
-
Pan L, Zhang YQ, Woodruff E, Broadie K, (2004) The Drosophila fragile X gene negatively regulates neuronal elaboration and synaptic differentiation. Curr Biol 14: 1863–1870. 15498496
-
(2004)
Curr Biol
, vol.14
, pp. 1863-1870
-
-
Pan, L.1
Zhang, Y.Q.2
Woodruff, E.3
Broadie, K.4
-
18
-
-
72149095158
-
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila
-
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, et al. (2009) CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85: 655–666. doi: 10.1016/j.ajhg.2009.10.004 19896112
-
(2009)
Am J Hum Genet
, vol.85
, pp. 655-666
-
-
Zweier, C.1
de Jong, E.K.2
Zweier, M.3
Orrico, A.4
Ousager, L.B.5
-
19
-
-
84887288399
-
Human intellectual disability genes form conserved functional modules in Drosophila
-
Oortveld MA, Keerthikumar S, Oti M, Nijhof B, Fernandes AC, et al. (2013) Human intellectual disability genes form conserved functional modules in Drosophila. PLoS Genet 9: e1003911. doi: 10.1371/journal.pgen.1003911 24204314
-
(2013)
PLoS Genet
, vol.9
, pp. 1003911
-
-
Oortveld, M.A.1
Keerthikumar, S.2
Oti, M.3
Nijhof, B.4
Fernandes, A.C.5
-
20
-
-
0037071888
-
Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain
-
Morales J, Hiesinger PR, Schroeder AJ, Kume K, Verstreken P, et al. (2002) Drosophila fragile X protein, DFXR, regulates neuronal morphology and function in the brain. Neuron 34: 961–972. 12086643
-
(2002)
Neuron
, vol.34
, pp. 961-972
-
-
Morales, J.1
Hiesinger, P.R.2
Schroeder, A.J.3
Kume, K.4
Verstreken, P.5
-
21
-
-
50449086949
-
A Drosophila model for Angelman syndrome
-
Wu Y, Bolduc FV, Bell K, Tully T, Fang Y, et al. (2008) A Drosophila model for Angelman syndrome. Proc Natl Acad Sci U S A 105: 12399–12404. doi: 10.1073/pnas.0805291105 18701717
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 12399-12404
-
-
Wu, Y.1
Bolduc, F.V.2
Bell, K.3
Tully, T.4
Fang, Y.5
-
22
-
-
77649336870
-
Circadian rhythms and sleep in children with autism
-
Glickman G, (2010) Circadian rhythms and sleep in children with autism. Neurosci Biobehav Rev 34: 755–768. doi: 10.1016/j.neubiorev.2009.11.017 19963005
-
(2010)
Neurosci Biobehav Rev
, vol.34
, pp. 755-768
-
-
Glickman, G.1
-
23
-
-
48249145132
-
The possible interplay of synaptic and clock genes in autism spectrum disorders
-
Bourgeron T, (2007) The possible interplay of synaptic and clock genes in autism spectrum disorders. Cold Spring Harb Symp Quant Biol 72: 645–654. doi: 10.1101/sqb.2007.72.020 18419324
-
(2007)
Cold Spring Harb Symp Quant Biol
, vol.72
, pp. 645-654
-
-
Bourgeron, T.1
-
24
-
-
84155177082
-
insomniac and Cullin-3 regulate sleep and wakefulness in Drosophila
-
Stavropoulos N, Young MW, (2011) insomniac and Cullin-3 regulate sleep and wakefulness in Drosophila. Neuron 72: 964–976. doi: 10.1016/j.neuron.2011.12.003 22196332
-
(2011)
Neuron
, vol.72
, pp. 964-976
-
-
Stavropoulos, N.1
Young, M.W.2
-
25
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, et al. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485: 246–250. doi: 10.1038/nature10989 22495309
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
-
26
-
-
84865791254
-
CULLIN-3 controls TIMELESS oscillations in the Drosophila circadian clock
-
Grima B, Dognon A, Lamouroux A, Chelot E, Rouyer F, (2012) CULLIN-3 controls TIMELESS oscillations in the Drosophila circadian clock. PLoS Biol 10: e1001367. doi: 10.1371/journal.pbio.1001367 22879814
-
(2012)
PLoS Biol
, vol.10
, pp. 1001367
-
-
Grima, B.1
Dognon, A.2
Lamouroux, A.3
Chelot, E.4
Rouyer, F.5
-
27
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477–488. doi: 10.1016/j.ajhg.2007.12.009 18252227
-
(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
-
28
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70: 886–897. doi: 10.1016/j.neuron.2011.05.015 21658582
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.H.4
Leotta, A.5
-
29
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70: 863–885. doi: 10.1016/j.neuron.2011.05.002 21658581
-
(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
-
30
-
-
85027934678
-
Neurexins and neuroligins: recent insights from invertebrates
-
Knight D, Xie W, Boulianne GL, (2011) Neurexins and neuroligins: recent insights from invertebrates. Mol Neurobiol 44: 426–440. doi: 10.1007/s12035-011-8213-1 22037798
-
(2011)
Mol Neurobiol
, vol.44
, pp. 426-440
-
-
Knight, D.1
Xie, W.2
Boulianne, G.L.3
-
31
-
-
79960931882
-
Neurexins and neuroligins: synapses look out of the nervous system
-
Bottos A, Rissone A, Bussolino F, Arese M, (2011) Neurexins and neuroligins: synapses look out of the nervous system. Cell Mol Life Sci 68: 2655–2666. doi: 10.1007/s00018-011-0664-z 21394644
-
(2011)
Cell Mol Life Sci
, vol.68
, pp. 2655-2666
-
-
Bottos, A.1
Rissone, A.2
Bussolino, F.3
Arese, M.4
-
32
-
-
80455131052
-
Molecular and genetic analysis of the Drosophila model of fragile X syndrome
-
Tessier CR, Broadie K, (2012) Molecular and genetic analysis of the Drosophila model of fragile X syndrome. Results Probl Cell Differ 54: 119–156. doi: 10.1007/978-3-642-21649-7_7 22009350
-
(2012)
Results Probl Cell Differ
, vol.54
, pp. 119-156
-
-
Tessier, C.R.1
Broadie, K.2
-
33
-
-
77954956398
-
Sleep in children with autistic spectrum disorder
-
Cortesi F, Giannotti F, Ivanenko A, Johnson K, (2010) Sleep in children with autistic spectrum disorder. Sleep Med 11: 659–664. doi: 10.1016/j.sleep.2010.01.010 20605110
-
(2010)
Sleep Med
, vol.11
, pp. 659-664
-
-
Cortesi, F.1
Giannotti, F.2
Ivanenko, A.3
Johnson, K.4
-
34
-
-
67349123359
-
Genetic interaction between Neurexin and CAKI/CMG is important for synaptic function in Drosophila neuromuscular junction
-
Sun M, Liu L, Zeng X, Xu M, Fang M, et al. (2009) Genetic interaction between Neurexin and CAKI/CMG is important for synaptic function in Drosophila neuromuscular junction. Neurosci Res 64: 362–371. doi: 10.1016/j.neures.2009.04.009 19379781
-
(2009)
Neurosci Res
, vol.64
, pp. 362-371
-
-
Sun, M.1
Liu, L.2
Zeng, X.3
Xu, M.4
Fang, M.5
-
35
-
-
0037415610
-
Drosophila p120catenin plays a supporting role in cell adhesion but is not an essential adherens junction component
-
Myster SH, Cavallo R, Anderson CT, Fox DT, Peifer M, (2003) Drosophila p120catenin plays a supporting role in cell adhesion but is not an essential adherens junction component. J Cell Biol 160: 433–449. 12551951
-
(2003)
J Cell Biol
, vol.160
, pp. 433-449
-
-
Myster, S.H.1
Cavallo, R.2
Anderson, C.T.3
Fox, D.T.4
Peifer, M.5
-
36
-
-
3843152886
-
Coordinating structural and functional synapse development: postsynaptic p21-activated kinase independently specifies glutamate receptor abundance and postsynaptic morphology
-
Albin SD, Davis GW, (2004) Coordinating structural and functional synapse development: postsynaptic p21-activated kinase independently specifies glutamate receptor abundance and postsynaptic morphology. J Neurosci 24: 6871–6879. 15295021
-
(2004)
J Neurosci
, vol.24
, pp. 6871-6879
-
-
Albin, S.D.1
Davis, G.W.2
-
37
-
-
0029963547
-
A Drosophila homolog of the Rac- and Cdc42-activated serine/threonine kinase PAK is a potential focal adhesion and focal complex protein that colocalizes with dynamic actin structures
-
Harden N, Lee J, Loh HY, Ong YM, Tan I, et al. (1996) A Drosophila homolog of the Rac- and Cdc42-activated serine/threonine kinase PAK is a potential focal adhesion and focal complex protein that colocalizes with dynamic actin structures. Mol Cell Biol 16: 1896–1908. 8628256
-
(1996)
Mol Cell Biol
, vol.16
, pp. 1896-1908
-
-
Harden, N.1
Lee, J.2
Loh, H.Y.3
Ong, Y.M.4
Tan, I.5
-
38
-
-
0023908079
-
The maternal effect of lethal(1)discs-large-1: a recessive oncogene of Drosophila melanogaster
-
Perrimon N, (1988) The maternal effect of lethal(1)discs-large-1: a recessive oncogene of Drosophila melanogaster. Dev Biol 127: 392–407. 3132409
-
(1988)
Dev Biol
, vol.127
, pp. 392-407
-
-
Perrimon, N.1
-
39
-
-
84893733661
-
The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan
-
Jonas RK, Montojo CA, Bearden CE, (2014) The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan. Biol Psychiatry 75: 351–360. doi: 10.1016/j.biopsych.2013.07.019 23992925
-
(2014)
Biol Psychiatry
, vol.75
, pp. 351-360
-
-
Jonas, R.K.1
Montojo, C.A.2
Bearden, C.E.3
-
40
-
-
9144224451
-
Processing of primary microRNAs by the Microprocessor complex
-
Denli AM, Tops BB, Plasterk RH, Ketting RF, Hannon GJ, (2004) Processing of primary microRNAs by the Microprocessor complex. Nature 432: 231–235. 15531879
-
(2004)
Nature
, vol.432
, pp. 231-235
-
-
Denli, A.M.1
Tops, B.B.2
Plasterk, R.H.3
Ketting, R.F.4
Hannon, G.J.5
-
41
-
-
0032496624
-
Isolation of a Drosophila T-box gene closely related to human TBX1
-
Porsch M, Hofmeyer K, Bausenwein BS, Grimm S, Weber BH, et al. (1998) Isolation of a Drosophila T-box gene closely related to human TBX1. Gene 212: 237–248. 9611267
-
(1998)
Gene
, vol.212
, pp. 237-248
-
-
Porsch, M.1
Hofmeyer, K.2
Bausenwein, B.S.3
Grimm, S.4
Weber, B.H.5
-
42
-
-
84868580537
-
Drosophila neuroligin 2 is required presynaptically and postsynaptically for proper synaptic differentiation and synaptic transmission
-
Chen YC, Lin YQ, Banerjee S, Venken K, Li J, et al. (2012) Drosophila neuroligin 2 is required presynaptically and postsynaptically for proper synaptic differentiation and synaptic transmission. J Neurosci 32: 16018–16030. doi: 10.1523/JNEUROSCI.1685-12.2012 23136438
-
(2012)
J Neurosci
, vol.32
, pp. 16018-16030
-
-
Chen, Y.C.1
Lin, Y.Q.2
Banerjee, S.3
Venken, K.4
Li, J.5
-
43
-
-
36048947587
-
Drosophila fragile X mental retardation protein and metabotropic glutamate receptor A convergently regulate the synaptic ratio of ionotropic glutamate receptor subclasses
-
Pan L, Broadie KS, (2007) Drosophila fragile X mental retardation protein and metabotropic glutamate receptor A convergently regulate the synaptic ratio of ionotropic glutamate receptor subclasses. J Neurosci 27: 12378–12389. 17989302
-
(2007)
J Neurosci
, vol.27
, pp. 12378-12389
-
-
Pan, L.1
Broadie, K.S.2
-
44
-
-
79952313620
-
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
-
Betancur C, (2011) Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res 1380: 42–77. doi: 10.1016/j.brainres.2010.11.078 21129364
-
(2011)
Brain Res
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
45
-
-
84871298155
-
Common genetic variants, acting additively, are a major source of risk for autism
-
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, et al. (2012) Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism 3: 9. doi: 10.1186/2040-2392-3-9 23067556
-
(2012)
Mol Autism
, vol.3
, pp. 9
-
-
Klei, L.1
Sanders, S.J.2
Murtha, M.T.3
Hus, V.4
Lowe, J.K.5
-
46
-
-
84857527866
-
Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families
-
Bernier R, Gerdts J, Munson J, Dawson G, Estes A, (2012) Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. Autism Res 5: 13–20. doi: 10.1002/aur.226 21905246
-
(2012)
Autism Res
, vol.5
, pp. 13-20
-
-
Bernier, R.1
Gerdts, J.2
Munson, J.3
Dawson, G.4
Estes, A.5
-
47
-
-
84892620880
-
CNVs conferring risk of autism or schizophrenia affect cognition in controls
-
Stefansson H, Meyer-Lindenberg A, Steinberg S, Magnusdottir B, Morgen K, et al. (2014) CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature 505: 361–366. doi: 10.1038/nature12818 24352232
-
(2014)
Nature
, vol.505
, pp. 361-366
-
-
Stefansson, H.1
Meyer-Lindenberg, A.2
Steinberg, S.3
Magnusdottir, B.4
Morgen, K.5
-
48
-
-
84891783452
-
The Database of Genomic Variants: a curated collection of structural variation in the human genome
-
MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW, (2014) The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 42: D986–992. doi: 10.1093/nar/gkt958 24174537
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 986-992
-
-
MacDonald, J.R.1
Ziman, R.2
Yuen, R.K.3
Feuk, L.4
Scherer, S.W.5
-
49
-
-
77951719393
-
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
-
Park H, Kim JI, Ju YS, Gokcumen O, Mills RE, et al. (2010) Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing. Nat Genet 42: 400–405. doi: 10.1038/ng.555 20364138
-
(2010)
Nat Genet
, vol.42
, pp. 400-405
-
-
Park, H.1
Kim, J.I.2
Ju, Y.S.3
Gokcumen, O.4
Mills, R.E.5
-
50
-
-
44149100980
-
Genetic counseling for the 22q11.2 deletion
-
McDonald-McGinn DM, Zackai EH, (2008) Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev 14: 69–74. doi: 10.1002/ddrr.10 18636638
-
(2008)
Dev Disabil Res Rev
, vol.14
, pp. 69-74
-
-
McDonald-McGinn, D.M.1
Zackai, E.H.2
-
51
-
-
84884955739
-
Shank3 Deficiency Induces NMDA Receptor Hypofunction via an Actin-Dependent Mechanism
-
Duffney LJ, Wei J, Cheng J, Liu W, Smith KR, et al. (2013) Shank3 Deficiency Induces NMDA Receptor Hypofunction via an Actin-Dependent Mechanism. J Neurosci 33: 15767–15778. doi: 10.1523/JNEUROSCI.1175-13.2013 24089484
-
(2013)
J Neurosci
, vol.33
, pp. 15767-15778
-
-
Duffney, L.J.1
Wei, J.2
Cheng, J.3
Liu, W.4
Smith, K.R.5
-
52
-
-
84875844949
-
Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486
-
Dolan BM, Duron SG, Campbell DA, Vollrath B, Shankaranarayana Rao BS, et al. (2013) Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486. Proc Natl Acad Sci U S A 110: 5671–5676. doi: 10.1073/pnas.1219383110 23509247
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 5671-5676
-
-
Dolan, B.M.1
Duron, S.G.2
Campbell, D.A.3
Vollrath, B.4
Shankaranarayana, R.B.S.5
-
53
-
-
0025810110
-
Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic
-
van der Bliek AM, Meyerowitz EM, (1991) Dynamin-like protein encoded by the Drosophila shibire gene associated with vesicular traffic. Nature 351: 411–414. 1674590
-
(1991)
Nature
, vol.351
, pp. 411-414
-
-
van der Bliek, A.M.1
Meyerowitz, E.M.2
-
54
-
-
0035875699
-
Drosophila alpha- and beta-spectrin mutations disrupt presynaptic neurotransmitter release
-
Featherstone DE, Davis WS, Dubreuil RR, Broadie K, (2001) Drosophila alpha- and beta-spectrin mutations disrupt presynaptic neurotransmitter release. J Neurosci 21: 4215–4224. 11404407
-
(2001)
J Neurosci
, vol.21
, pp. 4215-4224
-
-
Featherstone, D.E.1
Davis, W.S.2
Dubreuil, R.R.3
Broadie, K.4
-
55
-
-
79957615103
-
Synapse development in health and disease
-
Melom JE, Littleton JT, (2011) Synapse development in health and disease. Curr Opin Genet Dev 21: 256–261. doi: 10.1016/j.gde.2011.01.002 21277192
-
(2011)
Curr Opin Genet Dev
, vol.21
, pp. 256-261
-
-
Melom, J.E.1
Littleton, J.T.2
-
56
-
-
79952770603
-
Hts/Adducin controls synaptic elaboration and elimination
-
Pielage J, Bulat V, Zuchero JB, Fetter RD, Davis GW, (2011) Hts/Adducin controls synaptic elaboration and elimination. Neuron 69: 1114–1131. doi: 10.1016/j.neuron.2011.02.007 21435557
-
(2011)
Neuron
, vol.69
, pp. 1114-1131
-
-
Pielage, J.1
Bulat, V.2
Zuchero, J.B.3
Fetter, R.D.4
Davis, G.W.5
-
57
-
-
33646425317
-
Drosophila melanogaster auxilin regulates the internalization of Delta to control activity of the Notch signaling pathway
-
Hagedorn EJ, Bayraktar JL, Kandachar VR, Bai T, Englert DM, et al. (2006) Drosophila melanogaster auxilin regulates the internalization of Delta to control activity of the Notch signaling pathway. J Cell Biol 173: 443–452. 16682530
-
(2006)
J Cell Biol
, vol.173
, pp. 443-452
-
-
Hagedorn, E.J.1
Bayraktar, J.L.2
Kandachar, V.R.3
Bai, T.4
Englert, D.M.5
-
58
-
-
0030156251
-
The Drosophila tumor suppressor gene, dlg, is involved in structural plasticity at a glutamatergic synapse
-
Guan B, Hartmann B, Kho YH, Gorczyca M, Budnik V, (1996) The Drosophila tumor suppressor gene, dlg, is involved in structural plasticity at a glutamatergic synapse. Curr Biol 6: 695–706. 8793296
-
(1996)
Curr Biol
, vol.6
, pp. 695-706
-
-
Guan, B.1
Hartmann, B.2
Kho, Y.H.3
Gorczyca, M.4
Budnik, V.5
-
59
-
-
70350652153
-
Notch signaling is required for activity-dependent synaptic plasticity at the Drosophila neuromuscular junction
-
de Bivort BL, Guo HF, Zhong Y, (2009) Notch signaling is required for activity-dependent synaptic plasticity at the Drosophila neuromuscular junction. J Neurogenet 23: 395–404. doi: 10.3109/01677060902878481 19863270
-
(2009)
J Neurogenet
, vol.23
, pp. 395-404
-
-
de Bivort, B.L.1
Guo, H.F.2
Zhong, Y.3
-
60
-
-
54049091941
-
Neuroligins and neurexins link synaptic function to cognitive disease
-
Sudhof TC, (2008) Neuroligins and neurexins link synaptic function to cognitive disease. Nature 455: 903–911. doi: 10.1038/nature07456 18923512
-
(2008)
Nature
, vol.455
, pp. 903-911
-
-
Sudhof, T.C.1
-
61
-
-
77955240267
-
Neurexin in embryonic Drosophila neuromuscular junctions
-
Chen K, Gracheva EO, Yu SC, Sheng Q, Richmond J, et al. (2010) Neurexin in embryonic Drosophila neuromuscular junctions. PLoS One 5: e11115. doi: 10.1371/journal.pone.0011115 20559439
-
(2010)
PLoS One
, vol.5
, pp. 11115
-
-
Chen, K.1
Gracheva, E.O.2
Yu, S.C.3
Sheng, Q.4
Richmond, J.5
-
62
-
-
34548316270
-
Crucial role of Drosophila neurexin in proper active zone apposition to postsynaptic densities, synaptic growth, and synaptic transmission
-
Li J, Ashley J, Budnik V, Bhat MA, (2007) Crucial role of Drosophila neurexin in proper active zone apposition to postsynaptic densities, synaptic growth, and synaptic transmission. Neuron 55: 741–755. 17785181
-
(2007)
Neuron
, vol.55
, pp. 741-755
-
-
Li, J.1
Ashley, J.2
Budnik, V.3
Bhat, M.A.4
-
63
-
-
84880297402
-
Progress toward treatments for synaptic defects in autism
-
Delorme R, Ey E, Toro R, Leboyer M, Gillberg C, et al. (2013) Progress toward treatments for synaptic defects in autism. Nat Med 19: 685–694. doi: 10.1038/nm.3193 23744158
-
(2013)
Nat Med
, vol.19
, pp. 685-694
-
-
Delorme, R.1
Ey, E.2
Toro, R.3
Leboyer, M.4
Gillberg, C.5
-
64
-
-
33644870049
-
Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila
-
Wagh DA, Rasse TM, Asan E, Hofbauer A, Schwenkert I, et al. (2006) Bruchpilot, a protein with homology to ELKS/CAST, is required for structural integrity and function of synaptic active zones in Drosophila. Neuron 49: 833–844. 16543132
-
(2006)
Neuron
, vol.49
, pp. 833-844
-
-
Wagh, D.A.1
Rasse, T.M.2
Asan, E.3
Hofbauer, A.4
Schwenkert, I.5
-
65
-
-
77955184349
-
CAST and ELKS proteins: structural and functional determinants of the presynaptic active zone
-
Hida Y, Ohtsuka T, (2010) CAST and ELKS proteins: structural and functional determinants of the presynaptic active zone. J Biochem 148: 131–137. doi: 10.1093/jb/mvq065 20581014
-
(2010)
J Biochem
, vol.148
, pp. 131-137
-
-
Hida, Y.1
Ohtsuka, T.2
-
66
-
-
67650733293
-
Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper
-
Stork T, Thomas S, Rodrigues F, Silies M, Naffin E, et al. (2009) Drosophila Neurexin IV stabilizes neuron-glia interactions at the CNS midline by binding to Wrapper. Development 136: 1251–1261. doi: 10.1242/dev.032847 19261699
-
(2009)
Development
, vol.136
, pp. 1251-1261
-
-
Stork, T.1
Thomas, S.2
Rodrigues, F.3
Silies, M.4
Naffin, E.5
-
67
-
-
0036850935
-
Differential regulation of active zone density during long-term strengthening of Drosophila neuromuscular junctions
-
Reiff DF, Thiel PR, Schuster CM, (2002) Differential regulation of active zone density during long-term strengthening of Drosophila neuromuscular junctions. J Neurosci 22: 9399–9409. 12417665
-
(2002)
J Neurosci
, vol.22
, pp. 9399-9409
-
-
Reiff, D.F.1
Thiel, P.R.2
Schuster, C.M.3
-
68
-
-
84872595085
-
Autism-related deficits via dysregulated eIF4E-dependent translational control
-
Gkogkas CG, Khoutorsky A, Ran I, Rampakakis E, Nevarko T, et al. (2013) Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493: 371–377. doi: 10.1038/nature11628 23172145
-
(2013)
Nature
, vol.493
, pp. 371-377
-
-
Gkogkas, C.G.1
Khoutorsky, A.2
Ran, I.3
Rampakakis, E.4
Nevarko, T.5
-
69
-
-
84859628210
-
TOR is required for the retrograde regulation of synaptic homeostasis at the Drosophila neuromuscular junction
-
Penney J, Tsurudome K, Liao EH, Elazzouzi F, Livingstone M, et al. (2012) TOR is required for the retrograde regulation of synaptic homeostasis at the Drosophila neuromuscular junction. Neuron 74: 166–178. doi: 10.1016/j.neuron.2012.01.030 22500638
-
(2012)
Neuron
, vol.74
, pp. 166-178
-
-
Penney, J.1
Tsurudome, K.2
Liao, E.H.3
Elazzouzi, F.4
Livingstone, M.5
-
70
-
-
84860388339
-
MicroRNAs in neuronal function and dysfunction
-
Im HI, Kenny PJ, (2012) MicroRNAs in neuronal function and dysfunction. Trends Neurosci 35: 325–334. doi: 10.1016/j.tins.2012.01.004 22436491
-
(2012)
Trends Neurosci
, vol.35
, pp. 325-334
-
-
Im, H.I.1
Kenny, P.J.2
-
71
-
-
79960779323
-
FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism
-
Darnell JC, Van Driesche SJ, Zhang C, Hung KY, Mele A, et al. (2011) FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism. Cell 146: 247–261. doi: 10.1016/j.cell.2011.06.013 21784246
-
(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
-
72
-
-
75949101467
-
Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132
-
Edbauer D, Neilson JR, Foster KA, Wang CF, Seeburg DP, et al. (2010) Regulation of synaptic structure and function by FMRP-associated microRNAs miR-125b and miR-132. Neuron 65: 373–384. doi: 10.1016/j.neuron.2010.01.005 20159450
-
(2010)
Neuron
, vol.65
, pp. 373-384
-
-
Edbauer, D.1
Neilson, J.R.2
Foster, K.A.3
Wang, C.F.4
Seeburg, D.P.5
-
73
-
-
70450248489
-
microRNAs at the synapse
-
Schratt G, (2009) microRNAs at the synapse. Nat Rev Neurosci 10: 842–849. doi: 10.1038/nrn2763 19888283
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 842-849
-
-
Schratt, G.1
-
74
-
-
66149121767
-
Regulation of glutamate receptor subunit availability by microRNAs
-
Karr J, Vagin V, Chen K, Ganesan S, Olenkina O, et al. (2009) Regulation of glutamate receptor subunit availability by microRNAs. J Cell Biol 185: 685–697. doi: 10.1083/jcb.200902062 19433455
-
(2009)
J Cell Biol
, vol.185
, pp. 685-697
-
-
Karr, J.1
Vagin, V.2
Chen, K.3
Ganesan, S.4
Olenkina, O.5
-
75
-
-
84856322817
-
A simple assay to study social behavior in Drosophila: measurement of social space within a group
-
Simon AF, Chou MT, Salazar ED, Nicholson T, Saini N, et al. (2012) A simple assay to study social behavior in Drosophila: measurement of social space within a group. Genes Brain Behav 11: 243–252. doi: 10.1111/j.1601-183X.2011.00740.x 22010812
-
(2012)
Genes Brain Behav
, vol.11
, pp. 243-252
-
-
Simon, A.F.1
Chou, M.T.2
Salazar, E.D.3
Nicholson, T.4
Saini, N.5
-
76
-
-
84868514136
-
The best laid plans: analyzing courtship defects in Drosophila
-
Goodwin SF, O'Dell KM, (2012) The best laid plans: analyzing courtship defects in Drosophila. Cold Spring Harb Protoc 2012: 1140–1145. doi: 10.1101/pdb.prot071647 23118354
-
(2012)
Cold Spring Harb Protoc
, vol.2012
, pp. 1140-1145
-
-
Goodwin, S.F.1
O'Dell, K.M.2
-
77
-
-
13444256478
-
Inparanoid: a comprehensive database of eukaryotic orthologs
-
O'Brien KP, Remm M, Sonnhammer EL, (2005) Inparanoid: a comprehensive database of eukaryotic orthologs. Nucleic Acids Res 33: D476–480. 15608241
-
(2005)
Nucleic Acids Res
, vol.33
, pp. 476-480
-
-
O'Brien, K.P.1
Remm, M.2
Sonnhammer, E.L.3
-
78
-
-
0034837386
-
A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster
-
Reiter LT, Potocki L, Chien S, Gribskov M, Bier E, (2001) A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. Genome Res 11: 1114–1125. 11381037
-
(2001)
Genome Res
, vol.11
, pp. 1114-1125
-
-
Reiter, L.T.1
Potocki, L.2
Chien, S.3
Gribskov, M.4
Bier, E.5
-
79
-
-
79955627137
-
Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila
-
Grice SJ, Liu JL, (2011) Survival motor neuron protein regulates stem cell division, proliferation, and differentiation in Drosophila. PLoS Genet 7: e1002030. doi: 10.1371/journal.pgen.1002030 21490958
-
(2011)
PLoS Genet
, vol.7
, pp. 1002030
-
-
Grice, S.J.1
Liu, J.L.2
|