-
1
-
-
84879684377
-
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
-
G.L. Carvill, S.B. Heavin, S.C. Yendle, J.M. McMahon, B.J. and J. Cook Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 Nat Genet 45 2013 825 830
-
(2013)
Nat Genet
, vol.45
, pp. 825-830
-
-
Carvill, G.L.1
Heavin, S.B.2
Yendle, S.C.3
McMahon, J.M.4
Cook, J.5
-
2
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
J. de Ligt, M.H. Willemsen, B.W. van Bon, T. Kleefstra, H.G. Yntema, and T. Kroes Diagnostic exome sequencing in persons with severe intellectual disability N Engl J Med 367 2012 1921 1929
-
(2012)
N Engl J Med
, vol.367
, pp. 1921-1929
-
-
De Ligt, J.1
Willemsen, M.H.2
Van Bon, B.W.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
-
3
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
A. Rauch, D. Wieczorek, E. Graf, T. Wieland, S. Endele, and T. Schwarzmayr Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study Lancet 380 2012 1674 1682
-
(2012)
Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
Schwarzmayr, T.6
-
4
-
-
84892620880
-
CNVs conferring risk of autism or schizophrenia affect cognition in controls
-
H. Stefansson, A. Meyer-Lindenberg, S. Steinberg, B. Magnusdottir, K. Morgen, and S. Arnarsdottir CNVs conferring risk of autism or schizophrenia affect cognition in controls Nature 505 2014 361 366
-
(2014)
Nature
, vol.505
, pp. 361-366
-
-
Stefansson, H.1
Meyer-Lindenberg, A.2
Steinberg, S.3
Magnusdottir, B.4
Morgen, K.5
Arnarsdottir, S.6
-
5
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
I. Iossifov, M. Ronemus, D. Levy, Z. Wang, I. Hakker, and J. Rosenbaum De novo gene disruptions in children on the autistic spectrum Neuron 74 2012 285 299
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
Ronemus, M.2
Levy, D.3
Wang, Z.4
Hakker, I.5
Rosenbaum, J.6
-
6
-
-
84881664021
-
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing
-
Y.H. Jiang, R.K. Yuen, X. Jin, M. Wang, N. Chen, and X. Wu Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing Am J Hum Genet 93 2013 249 263
-
(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
-
7
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
B.M. Neale, Y. Kou, L. Liu, K.E. Samocha, and A. Sabo 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
Samocha, K.E.4
Sabo, A.5
-
8
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
L. Vives, S. Girirajan, E. Karakoc, N. Krumm, and B.P. Coe Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Nature 485 2012 246 250
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
Vives, L.1
Girirajan, S.2
Karakoc, E.3
Krumm, N.4
Coe, B.P.5
-
9
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
S.J. Sanders, M.T. Murtha, A.R. Gupta, J.D. Murdoch, M.J. Raubeson, and A.J. Willsey 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
-
10
-
-
84893919352
-
De novo mutations in schizophrenia implicate synaptic networks
-
M. Fromer, A.J. Pocklington, D.H. Kavanagh, H.J. Williams, S. Dwyer, and P. Gormley De novo mutations in schizophrenia implicate synaptic networks Nature 506 2014 179 184
-
(2014)
Nature
, vol.506
, pp. 179-184
-
-
Fromer, M.1
Pocklington, A.J.2
Kavanagh, D.H.3
Williams, H.J.4
Dwyer, S.5
Gormley, P.6
-
11
-
-
84893904007
-
A polygenic burden of rare disruptive mutations in schizophrenia
-
S.M. Purcell, J.L. Moran, M. Fromer, D. Ruderfer, N. Solovieff, and P. Roussos A polygenic burden of rare disruptive mutations in schizophrenia Nature 506 2014 185 190
-
(2014)
Nature
, vol.506
, pp. 185-190
-
-
Purcell, S.M.1
Moran, J.L.2
Fromer, M.3
Ruderfer, D.4
Solovieff, N.5
Roussos, P.6
-
12
-
-
84901633682
-
One gene, many neuropsychiatric disorders: Lessons from Mendelian diseases
-
X. Zhu, A.C. Need, S. Petrovski, and D.B. Goldstein One gene, many neuropsychiatric disorders: Lessons from Mendelian diseases Nat Neurosci 17 2014 773 781
-
(2014)
Nat Neurosci
, vol.17
, pp. 773-781
-
-
Zhu, X.1
Need, A.C.2
Petrovski, S.3
Goldstein, D.B.4
-
13
-
-
84901617965
-
Prioritization of neurodevelopmental disease genes by discovery of new mutations
-
A. Hoischen, N. Krumm, and E.E. Eichler Prioritization of neurodevelopmental disease genes by discovery of new mutations Nat Neurosci 17 2014 764 772
-
(2014)
Nat Neurosci
, vol.17
, pp. 764-772
-
-
Hoischen, A.1
Krumm, N.2
Eichler, E.E.3
-
14
-
-
59749085381
-
Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation
-
F.F. Hamdan, J. Gauthier, D. Spiegelman, A. Noreau, Y. Yang, and S. Pellerin Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation N Engl J Med 360 2009 599 605
-
(2009)
N Engl J Med
, vol.360
, pp. 599-605
-
-
Hamdan, F.F.1
Gauthier, J.2
Spiegelman, D.3
Noreau, A.4
Yang, Y.5
Pellerin, S.6
-
15
-
-
77956125807
-
A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation
-
A.C. Krepischi, C. Rosenberg, S.S. Costa, J.A. Crolla, S. Huang, and A.M. Vianna-Morgante A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation Am J Med Genet A 152A 2010 2376 2378
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2376-2378
-
-
Krepischi, A.C.1
Rosenberg, C.2
Costa, S.S.3
Crolla, J.A.4
Huang, S.5
Vianna-Morgante, A.M.6
-
16
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
D. Pinto, A.T. Pagnamenta, L. Klei, R. Anney, D. Merico, and R. Regan Functional impact of global rare copy number variation in autism spectrum disorders Nature 466 2010 368 372
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
Regan, R.6
-
17
-
-
79954982769
-
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism
-
F.F. Hamdan, H. Daoud, A. Piton, J. Gauthier, S. Dobrzeniecka, and M.O. Krebs De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism Biol Psychiatry 69 2011 898 901
-
(2011)
Biol Psychiatry
, vol.69
, pp. 898-901
-
-
Hamdan, F.F.1
Daoud, H.2
Piton, A.3
Gauthier, J.4
Dobrzeniecka, S.5
Krebs, M.O.6
-
18
-
-
79952484202
-
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability
-
F.F. Hamdan, J. Gauthier, Y. Araki, D.T. Lin, Y. Yoshizawa, and K. Higashi Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability Am J Hum Genet 88 2011 306 316
-
(2011)
Am J Hum Genet
, vol.88
, pp. 306-316
-
-
Hamdan, F.F.1
Gauthier, J.2
Araki, Y.3
Lin, D.T.4
Yoshizawa, Y.5
Higashi, K.6
-
19
-
-
84873099026
-
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency
-
M.H. Berryer, F.F. Hamdan, L.L. Klitten, R.S. Moller, L. Carmant, and J. Schwartzentruber Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency Hum Mutat 34 2013 385 394
-
(2013)
Hum Mutat
, vol.34
, pp. 385-394
-
-
Berryer, M.H.1
Hamdan, F.F.2
Klitten, L.L.3
Moller, R.S.4
Carmant, L.5
Schwartzentruber, J.6
-
20
-
-
84879461420
-
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment
-
K. Writzl, and A.C. Knegt 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment Am J Med Genet A 161 2013 1682 1685
-
(2013)
Am J Med Genet A
, vol.161
, pp. 1682-1685
-
-
Writzl, K.1
Knegt, A.C.2
-
21
-
-
79951960867
-
Dendritic spine pathology in neuropsychiatric disorders
-
P. Penzes, M.E. Cahill, K.A. Jones, J.E. VanLeeuwen, and K.M. Woolfrey Dendritic spine pathology in neuropsychiatric disorders Nat Neurosci 14 2011 285 293
-
(2011)
Nat Neurosci
, vol.14
, pp. 285-293
-
-
Penzes, P.1
Cahill, M.E.2
Jones, K.A.3
Vanleeuwen, J.E.4
Woolfrey, K.M.5
-
22
-
-
84863445841
-
Molecular and synaptic defects in intellectual disability syndromes
-
C. Verpelli, and C. Sala Molecular and synaptic defects in intellectual disability syndromes Curr Opin Neurobiol 22 2012 530 536
-
(2012)
Curr Opin Neurobiol
, vol.22
, pp. 530-536
-
-
Verpelli, C.1
Sala, C.2
-
23
-
-
0032078872
-
A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II
-
H.J. Chen, M. Rojas-Soto, A. Oguni, and M.B. Kennedy A synaptic Ras-GTPase activating protein (p135 SynGAP) inhibited by CaM kinase II Neuron 20 1998 895 904
-
(1998)
Neuron
, vol.20
, pp. 895-904
-
-
Chen, H.J.1
Rojas-Soto, M.2
Oguni, A.3
Kennedy, M.B.4
-
24
-
-
0032055396
-
SynGAP: A synaptic RasGAP that associates with the PSD-95/SAP90 protein family
-
J.H. Kim, D. Liao, L.F. Lau, and R.L. Huganir SynGAP: A synaptic RasGAP that associates with the PSD-95/SAP90 protein family Neuron 20 1998 683 691
-
(1998)
Neuron
, vol.20
, pp. 683-691
-
-
Kim, J.H.1
Liao, D.2
Lau, L.F.3
Huganir, R.L.4
-
25
-
-
84869038551
-
Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses
-
J.P. Clement, M. Aceti, T.K. Creson, E.D. Ozkan, Y. Shi, and N.J. Reish Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses Cell 151 2012 709 723
-
(2012)
Cell
, vol.151
, pp. 709-723
-
-
Clement, J.P.1
Aceti, M.2
Creson, T.K.3
Ozkan, E.D.4
Shi, Y.5
Reish, N.J.6
-
26
-
-
84902449149
-
Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons
-
E.D. Ozkan, T.K. Creson, E.A. Kramar, C.S. Rojas, R.R. Seese, and A.H. Babyan Reduced cognition in Syngap1 mutants is caused by isolated damage within developing forebrain excitatory neurons Neuron 82 2014 1317 1333
-
(2014)
Neuron
, vol.82
, pp. 1317-1333
-
-
Ozkan, E.D.1
Creson, T.K.2
Kramar, E.A.3
Rojas, C.S.4
Seese, R.R.5
Babyan, A.H.6
-
27
-
-
33645217296
-
SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons
-
G. Rumbaugh, J.P. Adams, J.H. Kim, and R.L. Huganir SynGAP regulates synaptic strength and mitogen-activated protein kinases in cultured neurons Proc Natl Acad Sci U S A 103 2006 4344 4351
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 4344-4351
-
-
Rumbaugh, G.1
Adams, J.P.2
Kim, J.H.3
Huganir, R.L.4
-
28
-
-
67349261457
-
Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of schizophrenia
-
X. Guo, P.J. Hamilton, N.J. Reish, J.D. Sweatt, C.A. Miller, and G. Rumbaugh Reduced expression of the NMDA receptor-interacting protein SynGAP causes behavioral abnormalities that model symptoms of schizophrenia Neuropsychopharmacology 34 2009 1659 1672
-
(2009)
Neuropsychopharmacology
, vol.34
, pp. 1659-1672
-
-
Guo, X.1
Hamilton, P.J.2
Reish, N.J.3
Sweatt, J.D.4
Miller, C.A.5
Rumbaugh, G.6
-
29
-
-
0037442509
-
The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity
-
J.H. Kim, H.K. Lee, K. Takamiya, and R.L. Huganir The role of synaptic GTPase-activating protein in neuronal development and synaptic plasticity J Neurosci 23 2003 1119 1124
-
(2003)
J Neurosci
, vol.23
, pp. 1119-1124
-
-
Kim, J.H.1
Lee, H.K.2
Takamiya, K.3
Huganir, R.L.4
-
30
-
-
84877124104
-
Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis
-
D. Cloetta, V. Thomanetz, C. Baranek, R.M. Lustenberger, S. Lin, and F. Oliveri Inactivation of mTORC1 in the developing brain causes microcephaly and affects gliogenesis J Neurosci 33 2013 7799 7810
-
(2013)
J Neurosci
, vol.33
, pp. 7799-7810
-
-
Cloetta, D.1
Thomanetz, V.2
Baranek, C.3
Lustenberger, R.M.4
Lin, S.5
Oliveri, F.6
-
31
-
-
84859778293
-
MTOR signaling in growth control and disease
-
M. Laplante, and D.M. Sabatini mTOR signaling in growth control and disease Cell 149 2012 274 293
-
(2012)
Cell
, vol.149
, pp. 274-293
-
-
Laplante, M.1
Sabatini, D.M.2
-
32
-
-
84896731805
-
SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks
-
C.C. Wang, R.G. Held, and B.J. Hall SynGAP regulates protein synthesis and homeostatic synaptic plasticity in developing cortical networks PloS One 8 2013 e83941
-
(2013)
PloS One
, vol.8
, pp. e83941
-
-
Wang, C.C.1
Held, R.G.2
Hall, B.J.3
-
34
-
-
0037180832
-
Long-term in vivo imaging of experience-dependent synaptic plasticity in adult cortex
-
J.T. Trachtenberg, B.E. Chen, G.W. Knott, G. Feng, J.R. Sanes, E. Welker, and K. Svoboda Long-term in vivo imaging of experience-dependent synaptic plasticity in adult cortex Nature 420 2002 788 794
-
(2002)
Nature
, vol.420
, pp. 788-794
-
-
Trachtenberg, J.T.1
Chen, B.E.2
Knott, G.W.3
Feng, G.4
Sanes, J.R.5
Welker, E.6
Svoboda, K.7
-
35
-
-
22444441508
-
Long-term sensory deprivation prevents dendritic spine loss in primary somatosensory cortex
-
Y. Zuo, G. Yang, E. Kwon, and W.B. Gan Long-term sensory deprivation prevents dendritic spine loss in primary somatosensory cortex Nature 436 2005 261 265
-
(2005)
Nature
, vol.436
, pp. 261-265
-
-
Zuo, Y.1
Yang, G.2
Kwon, E.3
Gan, W.B.4
-
36
-
-
84879152374
-
SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity
-
J.P. Clement, E.D. Ozkan, M. Aceti, C.A. Miller, and G. Rumbaugh SYNGAP1 links the maturation rate of excitatory synapses to the duration of critical-period synaptic plasticity J Neurosci 33 2013 10447 10452
-
(2013)
J Neurosci
, vol.33
, pp. 10447-10452
-
-
Clement, J.P.1
Ozkan, E.D.2
Aceti, M.3
Miller, C.A.4
Rumbaugh, G.5
-
37
-
-
33847159648
-
Monosynaptic restriction of transsynaptic tracing from single, genetically targeted neurons
-
I.R. Wickersham, D.C. Lyon, R.J. Barnard, T. Mori, S. Finke, and K.K. Conzelmann Monosynaptic restriction of transsynaptic tracing from single, genetically targeted neurons Neuron 53 2007 639 647
-
(2007)
Neuron
, vol.53
, pp. 639-647
-
-
Wickersham, I.R.1
Lyon, D.C.2
Barnard, R.J.3
Mori, T.4
Finke, S.5
Conzelmann, K.K.6
-
38
-
-
84880697888
-
Differential innervation of direct- and indirect-pathway striatal projection neurons
-
N.R. Wall, M. De La Parra, E.M. Callaway, and A.C. Kreitzer Differential innervation of direct- and indirect-pathway striatal projection neurons Neuron 79 2013 347 360
-
(2013)
Neuron
, vol.79
, pp. 347-360
-
-
Wall, N.R.1
De La Parra, M.2
Callaway, E.M.3
Kreitzer, A.C.4
-
39
-
-
75749136071
-
Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP
-
M. Muhia, B.K. Yee, J. Feldon, F. Markopoulos, and I. Knuesel Disruption of hippocampus-regulated behavioural and cognitive processes by heterozygous constitutive deletion of SynGAP Eur J Neurosci 31 2010 529 543
-
(2010)
Eur J Neurosci
, vol.31
, pp. 529-543
-
-
Muhia, M.1
Yee, B.K.2
Feldon, J.3
Markopoulos, F.4
Knuesel, I.5
-
40
-
-
77953528456
-
Delayed stabilization of dendritic spines in fragile X mice
-
A. Cruz-Martin, M. Crespo, and C. Portera-Cailliau Delayed stabilization of dendritic spines in fragile X mice J Neurosci 30 2010 7793 7803
-
(2010)
J Neurosci
, vol.30
, pp. 7793-7803
-
-
Cruz-Martin, A.1
Crespo, M.2
Portera-Cailliau, C.3
-
41
-
-
78049262158
-
Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome
-
F. Pan, G.M. Aldridge, W.T. Greenough, and W.B. Gan Dendritic spine instability and insensitivity to modulation by sensory experience in a mouse model of fragile X syndrome Proc Natl Acad Sci U S A 107 2010 17768 17773
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 17768-17773
-
-
Pan, F.1
Aldridge, G.M.2
Greenough, W.T.3
Gan, W.B.4
-
42
-
-
80051995858
-
Extraordinary neoteny of synaptic spines in the human prefrontal cortex
-
Z. Petanjek, M. Judas, G. Simic, M.R. Rasin, H.B. Uylings, P. Rakic, and I. Kostovic Extraordinary neoteny of synaptic spines in the human prefrontal cortex Proc Natl Acad Sci U S A 108 2011 13281 13286
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 13281-13286
-
-
Petanjek, Z.1
Judas, M.2
Simic, G.3
Rasin, M.R.4
Uylings, H.B.5
Rakic, P.6
Kostovic, I.7
-
43
-
-
0022450104
-
Concurrent overproduction of synapses in diverse regions of the primate cerebral cortex
-
P. Rakic, J.P. Bourgeois, M.F. Eckenhoff, N. Zecevic, and P.S. Goldman-Rakic Concurrent overproduction of synapses in diverse regions of the primate cerebral cortex Science 232 1986 232 235
-
(1986)
Science
, vol.232
, pp. 232-235
-
-
Rakic, P.1
Bourgeois, J.P.2
Eckenhoff, M.F.3
Zecevic, N.4
Goldman-Rakic, P.S.5
-
44
-
-
58149379613
-
SynGAP regulates steady-state and activity-dependent phosphorylation of cofilin
-
H.J. Carlisle, P. Manzerra, E. Marcora, and M.B. Kennedy SynGAP regulates steady-state and activity-dependent phosphorylation of cofilin J Neurosci 28 2008 13673 13683
-
(2008)
J Neurosci
, vol.28
, pp. 13673-13683
-
-
Carlisle, H.J.1
Manzerra, P.2
Marcora, E.3
Kennedy, M.B.4
|