-
1
-
-
55749089875
-
Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes
-
Aasen T, Raya A, Barrero MJ, Garreta E, Consiglio A, Gonzalez F, Vassena R, Bilic J, Pekarik V, Tiscornia G, Edel M, Boue S, Izpisua Belmonte JC (2008) Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes. Nat Biotechnol 26:1276-1284
-
(2008)
Nat Biotechnol
, vol.26
, pp. 1276-1284
-
-
Aasen, T.1
Raya, A.2
Barrero, M.J.3
Garreta, E.4
Consiglio, A.5
Gonzalez, F.6
Vassena, R.7
Bilic, J.8
Pekarik, V.9
Tiscornia, G.10
Edel, M.11
Boue, S.12
Izpisua Belmonte, J.C.13
-
3
-
-
0032830639
-
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2
-
DOI 10.1038/13810
-
Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185-188 (Pubitemid 29455390)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 185-188
-
-
Amir, R.E.1
Van Den, V.I.B.2
Wan, M.3
Tran, C.Q.4
Francke, U.5
Zoghbi, H.Y.6
-
5
-
-
0031761177
-
Decreased dendritic branching in frontal, motor and limbic cortex in Rett Syndrome compared with Trisomy 21
-
Armstrong DD, Dunn K, Antalffy B (1998) Decreased dendritic branching in frontal, motor and limbic cortex in Rett syndrome compared with trisomy 21. J Neuropathol Exp Neurol 57:1013-1017 (Pubitemid 28525447)
-
(1998)
Journal of Neuropathology and Experimental Neurology
, vol.57
, Issue.11
, pp. 1013-1017
-
-
Armstrong, D.D.1
Dunn, K.2
Antalffy, B.3
-
6
-
-
80053064177
-
Mouse model of Timothy syndrome recapitulates triad of autistic traits
-
Bader PL, Faizi M, Kim LH, Owen SF, Tadross MR, Alfa RW, Bett GC, Tsien RW, Rasmusson RL, Shamloo M (2011) Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci U S A 108:15432-15437
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 15432-15437
-
-
Bader, P.L.1
Faizi, M.2
Kim, L.H.3
Owen, S.F.4
Tadross, M.R.5
Alfa, R.W.6
Bett, G.C.7
Tsien, R.W.8
Rasmusson, R.L.9
Shamloo, M.10
-
7
-
-
0028906338
-
Autism as a strongly genetic disorder: Evidence from a British twin study
-
Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25:63-77
-
(1995)
Psychol Med
, vol.25
, pp. 63-77
-
-
Bailey, A.1
Le Couteur, A.2
Gottesman, I.3
Bolton, P.4
Simonoff, E.5
Yuzda, E.6
Rutter, M.7
-
8
-
-
33745818375
-
Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP)
-
DOI 10.1016/S0140-6736(06)69041-7, PII S0140673606690417
-
Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D, Charman T (2006) Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 368:210-215 (Pubitemid 44037796)
-
(2006)
Lancet
, vol.368
, Issue.9531
, pp. 210-215
-
-
Baird, G.1
Simonoff, E.2
Pickles, A.3
Chandler, S.4
Loucas, T.5
Meldrum, D.6
Charman, T.7
-
9
-
-
84874759852
-
An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders
-
Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY (2013) An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders. Cell 152:984-996
-
(2013)
Cell
, vol.152
, pp. 984-996
-
-
Baker, S.A.1
Chen, L.2
Wilkins, A.D.3
Yu, P.4
Lichtarge, O.5
Zoghbi, H.Y.6
-
10
-
-
84861849462
-
Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives
-
Bar-Nur O, Caspi I, Benvenisty N (2012) Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives. J Mol Cell Biol 4:180-183
-
(2012)
J Mol Cell Biol
, vol.4
, pp. 180-183
-
-
Bar-Nur, O.1
Caspi, I.2
Benvenisty, N.3
-
11
-
-
3042647610
-
The mGluR theory of fragile X mental retardation
-
DOI 10.1016/j.tins.2004.04.009, PII S0166223604001328
-
Bear MF, Huber KM, Warren ST (2004) The mGluR theory of fragile X mental retardation. Trends Neurosci 27:370-377 (Pubitemid 38829251)
-
(2004)
Trends in Neurosciences
, vol.27
, Issue.7
, pp. 370-377
-
-
Bear, M.F.1
Huber, K.M.2
Warren, S.T.3
-
12
-
-
0033802736
-
FMRP involvement in formation of synapses among cultured hippocampal neurons
-
Braun K, Segal M (2000) FMRP involvement in formation of synapses among cultured hippocampal neurons. Cereb Cortex 10:1045-1052
-
(2000)
Cereb Cortex
, vol.10
, pp. 1045-1052
-
-
Braun, K.1
Segal, M.2
-
13
-
-
79955884485
-
Modelling schizophrenia using human induced pluripotent stem cells
-
Brennand KJ, Simone A, Jou J, Gelboin-Burkhart C, Tran N, Sangar S, Li Y, Mu Y, Chen G, Yu D, McCarthy S, Sebat J, Gage FH (2011) Modelling schizophrenia using human induced pluripotent stem cells. Nature 473:221-225
-
(2011)
Nature
, vol.473
, pp. 221-225
-
-
Brennand, K.J.1
Simone, A.2
Jou, J.3
Gelboin-Burkhart, C.4
Tran, N.5
Sangar, S.6
Li, Y.7
Mu, Y.8
Chen, G.9
Yu, D.10
McCarthy, S.11
Sebat, J.12
Gage, F.H.13
-
14
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer JR, Huizer K, Severijnen LA, Hukema RK, Berman RF, Oostra BA, Willemsen R (2008) CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J Neurochem 107:1671-1682
-
(2008)
J Neurochem
, vol.107
, pp. 1671-1682
-
-
Brouwer, J.R.1
Huizer, K.2
Severijnen, L.A.3
Hukema, R.K.4
Berman, R.F.5
Oostra, B.A.6
Willemsen, R.7
-
15
-
-
77955332631
-
Derivation of induced pluripotent stem cells from human peripheral blood T lymphocytes
-
Brown ME, Rondon E, Rajesh D, Mack A, Lewis R, Feng X, Zitur LJ, Learish RD, Nuwaysir EF (2010) Derivation of induced pluripotent stem cells from human peripheral blood T lymphocytes. PLoS One 5:e11373
-
(2010)
PLoS One
, vol.5
-
-
Brown, M.E.1
Rondon, E.2
Rajesh, D.3
Mack, A.4
Lewis, R.5
Feng, X.6
Zitur, L.J.7
Learish, R.D.8
Nuwaysir, E.F.9
-
16
-
-
29144442862
-
Altered differentiation of neural stem cells in fragile X syndrome
-
DOI 10.1073/pnas.0508995102
-
Castren M, Tervonen T, Karkkainen V, Heinonen S, Castren E, Larsson K, Bakker CE, Oostra BA, Akerman K (2005) Altered differentiation of neural stem cells in fragile X syndrome. Proc Natl Acad Sci U S A 102:17834-17839 (Pubitemid 41803583)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.49
, pp. 17834-17839
-
-
Castren, M.1
Tervonen, T.2
Karkkainen, V.3
Heinonen, S.4
Castren, E.5
Larsson, K.6
Bakker, C.E.7
Oostra, B.A.8
Akerman, K.9
-
17
-
-
35648978121
-
The Story of Rett Syndrome: From Clinic to Neurobiology
-
DOI 10.1016/j.neuron.2007.10.001, PII S0896627307007568
-
Chahrour M, Zoghbi HY (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56:422-437 (Pubitemid 350026269)
-
(2007)
Neuron
, vol.56
, Issue.3
, pp. 422-437
-
-
Chahrour, M.1
Zoghbi, H.Y.2
-
18
-
-
62149125434
-
Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
-
Chambers SM, Fasano CA, Papapetrou EP, Tomishima M, Sadelain M, Studer L (2009) Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat Biotechnol 27:275-280
-
(2009)
Nat Biotechnol
, vol.27
, pp. 275-280
-
-
Chambers, S.M.1
Fasano, C.A.2
Papapetrou, E.P.3
Tomishima, M.4
Sadelain, M.5
Studer, L.6
-
19
-
-
34748831111
-
MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number
-
DOI 10.1016/j.neuron.2007.08.018, PII S0896627307006472
-
Chao HT, Zoghbi HY, Rosenmund C (2007) MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number. Neuron 56:58-65 (Pubitemid 47484176)
-
(2007)
Neuron
, vol.56
, Issue.1
, pp. 58-65
-
-
Chao, H.-T.1
Zoghbi, H.Y.2
Rosenmund, C.3
-
20
-
-
0035093830
-
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
-
DOI 10.1038/85906
-
Chen RZ, Akbarian S, Tudor M, Jaenisch R (2001) Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet 27:327-331 (Pubitemid 32201857)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 327-331
-
-
Chen, R.Z.1
Akbarian, S.2
Tudor, M.3
Jaenisch, R.4
-
21
-
-
79955602167
-
Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation
-
Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J (2011) Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Hum Mol Genet 20:2103-2115
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2103-2115
-
-
Cheung, A.Y.1
Horvath, L.M.2
Grafodatskaya, D.3
Pasceri, P.4
Weksberg, R.5
Hotta, A.6
Carrel, L.7
Ellis, J.8
-
22
-
-
84859220108
-
Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages
-
Chow ML, Pramparo T, Winn ME, Barnes CC, Li HR, Weiss L, Fan JB, Murray S, April C, Belinson H, Fu XD, Wynshaw-Boris A, Schork NJ, Courchesne E (2012) Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. PLoS Genet 8:e1002592
-
(2012)
PLoS Genet
, vol.8
-
-
Chow, M.L.1
Pramparo, T.2
Winn, M.E.3
Barnes, C.C.4
Li, H.R.5
Weiss, L.6
Fan, J.B.7
Murray, S.8
April, C.9
Belinson, H.10
Fu, X.D.11
Wynshaw-Boris, A.12
Schork, N.J.13
Courchesne, E.14
-
23
-
-
70350519151
-
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
-
Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST (2009) Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85:503-514
-
(2009)
Am J Hum Genet
, vol.85
, pp. 503-514
-
-
Coffee, B.1
Keith, K.2
Albizua, I.3
Malone, T.4
Mowrey, J.5
Sherman, S.L.6
Warren, S.T.7
-
24
-
-
84873729095
-
Multiplex genome engineering using CRISPR/Cas systems
-
Cong L, Ran FA, Cox D, Lin S, Barretto R, Habib N, Hsu PD, Wu X, Jiang W, Marraffini LA, Zhang F (2013) Multiplex genome engineering using CRISPR/Cas systems. Science 339:819-823
-
(2013)
Science
, vol.339
, pp. 819-823
-
-
Cong, L.1
Ran, F.A.2
Cox, D.3
Lin, S.4
Barretto, R.5
Habib, N.6
Hsu, P.D.7
Wu, X.8
Jiang, W.9
Marraffini, L.A.10
Zhang, F.11
-
25
-
-
0028246435
-
Fmr1 knockout mice: A model to study fragile X mental retardation
-
Consortium TD-BFX
-
Consortium TD-BFX (1994) Fmr1 knockout mice: a model to study fragile X mental retardation. Cell 78:23-33
-
(1994)
Cell
, vol.78
, pp. 23-33
-
-
-
26
-
-
50849130596
-
Mapping early brain development in autism
-
Courchesne E, Pierce K, Schumann CM, Redcay E, Buckwalter JA, Kennedy DP, Morgan J (2007) Mapping early brain development in autism. Neuron 56:399-413
-
(2007)
Neuron
, vol.56
, pp. 399-413
-
-
Courchesne, E.1
Pierce, K.2
Schumann, C.M.3
Redcay, E.4
Buckwalter, J.A.5
Kennedy, D.P.6
Morgan, J.7
-
27
-
-
24644490120
-
Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett Syndrome
-
DOI 10.1073/pnas.0506071102
-
Dani VS, Chang Q, Maffei A, Turrigiano GG, Jaenisch R, Nelson SB (2005) Reduced cortical activity due to a shift in the balance between excitation and inhibition in a mouse model of Rett syndrome. Proc Natl Acad Sci U S A 102:12560-12565 (Pubitemid 41266398)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.35
, pp. 12560-12565
-
-
Dani, V.S.1
Chang, Q.2
Maffei, A.3
Turrigiano, G.G.4
Jaenisch, R.5
Nelson, S.B.6
-
28
-
-
84873733109
-
A TALEN genome-editing system for generating human stem cell-based disease models
-
Ding Q, Lee YK, Schaefer EA, Peters DT, Veres A, Kim K, Kuperwasser N, Motola DL, Meissner TB, Hendriks WT, Trevisan M, Gupta RM, Moisan A, Banks E, Friesen M, Schinzel RT, Xia F, Tang A, Xia Y, Figueroa E, Wann A, Ahfeldt T, Daheron L, Zhang F, Rubin LL, Peng LF, Chung RT, Musunuru K, Cowan CA (2013a) A TALEN genome-editing system for generating human stem cell-based disease models. Cell Stem Cell 12:238-251
-
(2013)
Cell Stem Cell
, vol.12
, pp. 238-251
-
-
Ding, Q.1
Lee, Y.K.2
Schaefer, E.A.3
Peters, D.T.4
Veres, A.5
Kim, K.6
Kuperwasser, N.7
Motola, D.L.8
Meissner, T.B.9
Hendriks, W.T.10
Trevisan, M.11
Gupta, R.M.12
Moisan, A.13
Banks, E.14
Friesen, M.15
Schinzel, R.T.16
Xia, F.17
Tang, A.18
Xia, Y.19
Figueroa, E.20
Wann, A.21
Ahfeldt, T.22
Daheron, L.23
Zhang, F.24
Rubin, L.L.25
Peng, L.F.26
Chung, R.T.27
Musunuru, K.28
Cowan, C.A.29
more..
-
29
-
-
84875963894
-
Enhanced efficiency of human pluripotent stem cell genome editing through replacing TALENs with CRISPRs
-
Ding Q, Regan SN, Xia Y, Oostrom LA, Cowan CA, Musunuru K (2013b) Enhanced efficiency of human pluripotent stem cell genome editing through replacing TALENs with CRISPRs. Cell Stem Cell 12:393-394
-
(2013)
Cell Stem Cell
, vol.12
, pp. 393-394
-
-
Ding, Q.1
Regan, S.N.2
Xia, Y.3
Oostrom, L.A.4
Cowan, C.A.5
Musunuru, K.6
-
30
-
-
37049032616
-
Correction of Fragile X Syndrome in Mice
-
DOI 10.1016/j.neuron.2007.12.001, PII S0896627307009646
-
Dolen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF (2007) Correction of fragile X syndrome in mice. Neuron 56:955-962 (Pubitemid 350251119)
-
(2007)
Neuron
, vol.56
, Issue.6
, pp. 955-962
-
-
Dolen, G.1
Osterweil, E.2
Rao, B.S.S.3
Smith, G.B.4
Auerbach, B.D.5
Chattarji, S.6
Bear, M.F.7
-
31
-
-
48749089453
-
The adult human brain in preclinical drug development
-
Dragunow M (2008) The adult human brain in preclinical drug development. Nat Rev Drug Discov 7:659-666
-
(2008)
Nat Rev Drug Discov
, vol.7
, pp. 659-666
-
-
Dragunow, M.1
-
32
-
-
57349193484
-
Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation
-
D'Souza A, Onem E, Patel P, La Gamma EF, Nankova BB (2009) Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation. Brain Res 1247:1-10
-
(2009)
Brain Res
, vol.1247
, pp. 1-10
-
-
D'Souza, A.1
Onem, E.2
Patel, P.3
La Gamma, E.F.4
Nankova, B.B.5
-
33
-
-
35848937244
-
Developmental Study of Fragile X Syndrome Using Human Embryonic Stem Cells Derived from Preimplantation Genetically Diagnosed Embryos
-
DOI 10.1016/j.stem.2007.09.001, PII S1934590907001713
-
Eiges R, Urbach A, Malcov M, Frumkin T, Schwartz T, Amit A, Yaron Y, Eden A, Yanuka O, Benvenisty N, Ben-Yosef D (2007) Developmental study of fragile X syndrome using human embryonic stem cells derived from preimplantation genetically diagnosed embryos. Cell Stem Cell 1:568-577 (Pubitemid 350079966)
-
(2007)
Cell Stem Cell
, vol.1
, Issue.5
, pp. 568-577
-
-
Eiges, R.1
Urbach, A.2
Malcov, M.3
Frumkin, T.4
Schwartz, T.5
Amit, A.6
Yaron, Y.7
Eden, A.8
Yanuka, O.9
Benvenisty, N.10
Ben-Yosef, D.11
-
34
-
-
84870067243
-
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations
-
Farra N, Zhang WB, Pasceri P, Eubanks JH, Salter MW, Ellis J (2012) Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations. Mol Psychiatry 17:1261-1271
-
(2012)
Mol Psychiatry
, vol.17
, pp. 1261-1271
-
-
Farra, N.1
Zhang, W.B.2
Pasceri, P.3
Eubanks, J.H.4
Salter, M.W.5
Ellis, J.6
-
35
-
-
77949892562
-
Efficient derivation of functional floor plate tissue from human embryonic stem cells
-
Fasano CA, Chambers SM, Lee G, Tomishima MJ, Studer L (2010) Efficient derivation of functional floor plate tissue from human embryonic stem cells. Cell Stem Cell 6:336-347
-
(2010)
Cell Stem Cell
, vol.6
, pp. 336-347
-
-
Fasano, C.A.1
Chambers, S.M.2
Lee, G.3
Tomishima, M.J.4
Studer, L.5
-
36
-
-
0028989063
-
Translational suppression by trinucleotide repeat expansion at FMR1
-
Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D, Warren ST (1995) Translational suppression by trinucleotide repeat expansion at FMR1. Science 268:731-734
-
(1995)
Science
, vol.268
, pp. 731-734
-
-
Feng, Y.1
Zhang, F.2
Lokey, L.K.3
Chastain, J.L.4
Lakkis, L.5
Eberhart, D.6
Warren, S.T.7
-
37
-
-
84866390941
-
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
-
Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH (2012) RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet 21:4171-4186
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4171-4186
-
-
Fogel, B.L.1
Wexler, E.2
Wahnich, A.3
Friedrich, T.4
Vijayendran, C.5
Gao, F.6
Parikshak, N.7
Konopka, G.8
Geschwind, D.H.9
-
38
-
-
70450265981
-
Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome
-
Fusaki N, Ban H, Nishiyama A, Saeki K, Hasegawa M (2009) Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome. Proc Jpn Acad Ser B Phys Biol Sci 85:348-362
-
(2009)
Proc Jpn Acad Ser B Phys Biol Sci
, vol.85
, pp. 348-362
-
-
Fusaki, N.1
Ban, H.2
Nishiyama, A.3
Saeki, K.4
Hasegawa, M.5
-
39
-
-
84862512314
-
Fragile X-associated disorders: A clinical overview
-
Gallagher A, Hallahan B (2012) Fragile X-associated disorders: a clinical overview. J Neurol 259:401-413
-
(2012)
J Neurol
, vol.259
, pp. 401-413
-
-
Gallagher, A.1
Hallahan, B.2
-
40
-
-
79959726422
-
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
-
Gehman LT, Stoilov P, Maguire J, Damianov A, Lin CH, Shiue L, Ares M Jr, Mody I, Black DL (2011) The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nat Genet 43:706-711
-
(2011)
Nat Genet
, vol.43
, pp. 706-711
-
-
Gehman, L.T.1
Stoilov, P.2
Maguire, J.3
Damianov, A.4
Lin, C.H.5
Shiue, L.6
Ares Jr., M.7
Mody, I.8
Black, D.L.9
-
41
-
-
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, Vitkup D (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
-
(2011)
Neuron
, vol.70
, pp. 898-907
-
-
Gilman, S.R.1
Iossifov, I.2
Levy, D.3
Ronemus, M.4
Wigler, M.5
Vitkup, D.6
-
42
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gecz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203-209
-
(2010)
Nat Genet
, vol.42
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
Itsara, A.6
Vives, L.7
Walsh, T.8
McCarthy, S.E.9
Baker, C.10
Mefford, H.C.11
Kidd, J.M.12
Browning, S.R.13
Browning, B.L.14
Dickel, D.E.15
Levy, D.L.16
Ballif, B.C.17
Platky, K.18
Farber, D.M.19
Gowans, G.C.20
Wetherbee, J.J.21
Asamoah, A.22
Weaver, D.D.23
Mark, P.R.24
Dickerson, J.25
Garg, B.P.26
Ellingwood, S.A.27
Smith, R.28
Banks, V.C.29
Smith, W.30
McDonald, M.T.31
Hoo, J.J.32
French, B.N.33
Hudson, C.34
Johnson, J.P.35
Ozmore, J.R.36
Moeschler, J.B.37
Surti, U.38
Escobar, L.F.39
El-Khechen, D.40
Gorski, J.L.41
Kussmann, J.42
Salbert, B.43
Lacassie, Y.44
Biser, A.45
McDonald-McGinn, D.M.46
Zackai, E.H.47
Deardorff, M.A.48
Shaikh, T.H.49
Haan, E.50
Friend, K.L.51
Fichera, M.52
Romano, C.53
Gecz, J.54
DeLisi, L.E.55
Sebat, J.56
King, M.C.57
Shaffer, L.G.58
Eichler, E.E.59
more..
-
43
-
-
84872595085
-
Autism-related deficits via dysregulated eIF4E-dependent translational control
-
Gkogkas CG, Khoutorsky A, Ran I, Rampakakis E, Nevarko T, Weatherill DB, Vasuta C, Yee S, Truitt M, Dallaire P, Major F, Lasko P, Ruggero D, Nader K, Lacaille JC, Sonenberg N (2013) Autism-related deficits via dysregulated eIF4E-dependent translational control. Nature 493:371-377
-
(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
Major, F.11
Lasko, P.12
Ruggero, D.13
Nader, K.14
Lacaille, J.C.15
Sonenberg, N.16
-
44
-
-
84861075586
-
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
-
Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N (2012) KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485:363-367
-
(2012)
Nature
, vol.485
, pp. 363-367
-
-
Golzio, C.1
Willer, J.2
Talkowski, M.E.3
Oh, E.C.4
Taniguchi, Y.5
Jacquemont, S.6
Reymond, A.7
Sun, M.8
Sawa, A.9
Gusella, J.F.10
Kamiya, A.11
Beckmann, J.S.12
Katsanis, N.13
-
45
-
-
79956202464
-
Deriving excitatory neurons of the neocortex from pluripotent stem cells
-
Hansen DV, Rubenstein JL, Kriegstein AR (2011) Deriving excitatory neurons of the neocortex from pluripotent stem cells. Neuron 70:645-660
-
(2011)
Neuron
, vol.70
, pp. 645-660
-
-
Hansen, D.V.1
Rubenstein, J.L.2
Kriegstein, A.R.3
-
47
-
-
63449117467
-
Segmental copy number variation shapes tissue transcriptomes
-
Henrichsen CN, Vinckenbosch N, Zollner S, Chaignat E, Pradervand S, Schutz F, Ruedi M, Kaessmann H, Reymond A (2009b) Segmental copy number variation shapes tissue transcriptomes. Nat Genet 41:424-429
-
(2009)
Nat Genet
, vol.41
, pp. 424-429
-
-
Henrichsen, C.N.1
Vinckenbosch, N.2
Zollner, S.3
Chaignat, E.4
Pradervand, S.5
Schutz, F.6
Ruedi, M.7
Kaessmann, H.8
Reymond, A.9
-
48
-
-
80053575220
-
Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes
-
Hester ME, Murtha MJ, Song S, Rao M, Miranda CJ, Meyer K, Tian J, Boulting G, Schaffer DV, Zhu MX, Pfaff SL, Gage FH, Kaspar BK (2011) Rapid and efficient generation of functional motor neurons from human pluripotent stem cells using gene delivered transcription factor codes. Mol Ther 19:1905-1912
-
(2011)
Mol Ther
, vol.19
, pp. 1905-1912
-
-
Hester, M.E.1
Murtha, M.J.2
Song, S.3
Rao, M.4
Miranda, C.J.5
Meyer, K.6
Tian, J.7
Boulting, G.8
Schaffer, D.V.9
Zhu, M.X.10
Pfaff, S.L.11
Gage, F.H.12
Kaspar, B.K.13
-
49
-
-
77951206469
-
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
-
Hogart A, Wu D, LaSalle JM, Schanen NC (2010) The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 38:181-191
-
(2010)
Neurobiol Dis
, vol.38
, pp. 181-191
-
-
Hogart, A.1
Wu, D.2
LaSalle, J.M.3
Schanen, N.C.4
-
50
-
-
77749279749
-
Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency
-
Hu BY, Weick JP, Yu J, Ma LX, Zhang XQ, Thomson JA, Zhang SC (2010) Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency. Proc Natl Acad Sci U S A 107:4335-4340
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 4335-4340
-
-
Hu, B.Y.1
Weick, J.P.2
Yu, J.3
Ma, L.X.4
Zhang, X.Q.5
Thomson, J.A.6
Zhang, S.C.7
-
51
-
-
34548023653
-
Development of GABA innervation in the cerebral and cerebellar cortices
-
DOI 10.1038/nrn2188, PII NRN2188
-
Huang ZJ, Di Cristo G, Ango F (2007) Development of GABA innervation in the cerebral and cerebellar cortices. Nat Rev Neurosci 8:673-686 (Pubitemid 47283143)
-
(2007)
Nature Reviews Neuroscience
, vol.8
, Issue.9
, pp. 673-686
-
-
Huang, Z.J.1
Di, C.G.2
Ango, F.3
-
52
-
-
84856956771
-
Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells
-
Israel MA, Yuan SH, Bardy C, Reyna SM, Mu Y, Herrera C, Hefferan MP, Van Gorp S, Nazor KL, Boscolo FS, Carson CT, Laurent LC, Marsala M, Gage FH, Remes AM, Koo EH, Goldstein LS (2012) Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells. Nature 482:216-220
-
(2012)
Nature
, vol.482
, pp. 216-220
-
-
Israel, M.A.1
Yuan, S.H.2
Bardy, C.3
Reyna, S.M.4
Mu, Y.5
Herrera, C.6
Hefferan, M.P.7
Van Gorp, S.8
Nazor, K.L.9
Boscolo, F.S.10
Carson, C.T.11
Laurent, L.C.12
Marsala, M.13
Gage, F.H.14
Remes, A.M.15
Koo, E.H.16
Goldstein, L.S.17
-
53
-
-
54949144402
-
The autistic neuron: Troubled translation?
-
Kelleher RJ 3rd, Bear MF (2008) The autistic neuron: troubled translation? Cell 135:401-406
-
(2008)
Cell
, vol.135
, pp. 401-406
-
-
Kelleher III, R.J.1
Bear, M.F.2
-
54
-
-
77953912037
-
Robust enhancement of neural differentiation from human ES and iPS cells regardless of their innate difference in differentiation propensity
-
Kim DS, Lee JS, Leem JW, Huh YJ, Kim JY, Kim HS, Park IH, Daley GQ, Hwang DY, Kim DW (2010) Robust enhancement of neural differentiation from human ES and iPS cells regardless of their innate difference in differentiation propensity. Stem Cell Rev 6:270-281
-
(2010)
Stem Cell Rev
, vol.6
, pp. 270-281
-
-
Kim, D.S.1
Lee, J.S.2
Leem, J.W.3
Huh, Y.J.4
Kim, J.Y.5
Kim, H.S.6
Park, I.H.7
Daley, G.Q.8
Hwang, D.Y.9
Kim, D.W.10
-
55
-
-
84875157258
-
A library of TAL effector nucleases spanning the human genome
-
Kim Y, Kweon J, Kim A, Chon JK, Yoo JY, Kim HJ, Kim S, Lee C, Jeong E, Chung E, Kim D, Lee MS, Go EM, Song HJ, Kim H, Cho N, Bang D, Kim JS (2013) A library of TAL effector nucleases spanning the human genome. Nat Biotechnol 31:251-258
-
(2013)
Nat Biotechnol
, vol.31
, pp. 251-258
-
-
Kim, Y.1
Kweon, J.2
Kim, A.3
Chon, J.K.4
Yoo, J.Y.5
Kim, H.J.6
Kim, S.7
Lee, C.8
Jeong, E.9
Chung, E.10
Kim, D.11
Lee, M.S.12
Go, E.M.13
Song, H.J.14
Kim, H.15
Cho, N.16
Bang, D.17
Kim, J.S.18
-
56
-
-
7244243971
-
MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions
-
DOI 10.1016/j.mcn.2004.07.006, PII S1044743104001708
-
Kishi N, Macklis JD (2004) MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions. Mol Cell Neurosci 27:306-321 (Pubitemid 39433843)
-
(2004)
Molecular and Cellular Neuroscience
, vol.27
, Issue.3
, pp. 306-321
-
-
Kishi, N.1
Macklis, J.D.2
-
57
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
DOI 10.1038/ng0197-70
-
Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73 (Pubitemid 27014952)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
58
-
-
70350517377
-
Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007
-
Kogan MD, Blumberg SJ, Schieve LA, Boyle CA, Perrin JM, Ghandour RM, Singh GK, Strickland BB, Trevathan E, van Dyck PC (2009) Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics 124:1395-1403
-
(2009)
Pediatrics
, vol.124
, pp. 1395-1403
-
-
Kogan, M.D.1
Blumberg, S.J.2
Schieve, L.A.3
Boyle, C.A.4
Perrin, J.M.5
Ghandour, R.M.6
Singh, G.K.7
Strickland, B.B.8
Trevathan, E.9
Van Dyck, P.C.10
-
59
-
-
84873097224
-
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons
-
Krey JF, Pasca SP, Shcheglovitov A, Yazawa M, Schwemberger R, Rasmusson R, Dolmetsch RE (2013) Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat Neurosci 16:201-209
-
(2013)
Nat Neurosci
, vol.16
, pp. 201-209
-
-
Krey, J.F.1
Pasca, S.P.2
Shcheglovitov, A.3
Yazawa, M.4
Schwemberger, R.5
Rasmusson, R.6
Dolmetsch, R.E.7
-
60
-
-
84355166561
-
Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson's disease
-
Kriks S, Shim JW, Piao J, Ganat YM, Wakeman DR, Xie Z, Carrillo-Reid L, Auyeung G, Antonacci C, Buch A, Yang L, Beal MF, Surmeier DJ, Kordower JH, Tabar V, Studer L (2011) Dopamine neurons derived from human ES cells efficiently engraft in animal models of Parkinson's disease. Nature 480:547-551
-
(2011)
Nature
, vol.480
, pp. 547-551
-
-
Kriks, S.1
Shim, J.W.2
Piao, J.3
Ganat, Y.M.4
Wakeman, D.R.5
Xie, Z.6
Carrillo-Reid, L.7
Auyeung, G.8
Antonacci, C.9
Buch, A.10
Yang, L.11
Beal, M.F.12
Surmeier, D.J.13
Kordower, J.H.14
Tabar, V.15
Studer, L.16
-
61
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
-
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsater H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemiere N, Skuse D, Poot M, Holt R, Monaco AP, Jarvela I, Kantojarvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T (2012) Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 8:e1002521
-
(2012)
PLoS Genet
, vol.8
-
-
Leblond, C.S.1
Heinrich, J.2
Delorme, R.3
Proepper, C.4
Betancur, C.5
Huguet, G.6
Konyukh, M.7
Chaste, P.8
Ey, E.9
Rastam, M.10
Anckarsater, H.11
Nygren, G.12
Gillberg, I.C.13
Melke, J.14
Toro, R.15
Regnault, B.16
Fauchereau, F.17
Mercati, O.18
Lemiere, N.19
Skuse, D.20
Poot, M.21
Holt, R.22
Monaco, A.P.23
Jarvela, I.24
Kantojarvi, K.25
Vanhala, R.26
Curran, S.27
Collier, D.A.28
Bolton, P.29
Chiocchetti, A.30
Klauck, S.M.31
Poustka, F.32
Freitag, C.M.33
Waltes, R.34
Kopp, M.35
Duketis, E.36
Bacchelli, E.37
Minopoli, F.38
Ruta, L.39
Battaglia, A.40
Mazzone, L.41
Maestrini, E.42
Sequeira, A.F.43
Oliveira, B.44
Vicente, A.45
Oliveira, G.46
Pinto, D.47
Scherer, S.W.48
Zelenika, D.49
Delepine, M.50
Lathrop, M.51
Bonneau, D.52
Guinchat, V.53
Devillard, F.54
Assouline, B.55
Mouren, M.C.56
Leboyer, M.57
Gillberg, C.58
Boeckers, T.M.59
Bourgeron, T.60
more..
-
62
-
-
70349301819
-
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
-
Lee G, Papapetrou EP, Kim H, Chambers SM, Tomishima MJ, Fasano CA, Ganat YM, Menon J, Shimizu F, Viale A, Tabar V, Sadelain M, Studer L (2009) Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature 461:402-406
-
(2009)
Nature
, vol.461
, pp. 402-406
-
-
Lee, G.1
Papapetrou, E.P.2
Kim, H.3
Chambers, S.M.4
Tomishima, M.J.5
Fasano, C.A.6
Ganat, Y.M.7
Menon, J.8
Shimizu, F.9
Viale, A.10
Tabar, V.11
Sadelain, M.12
Studer, L.13
-
63
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron 70:886-897
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.H.4
Leotta, A.5
Kendall, J.6
Marks, S.7
Lakshmi, B.8
Pai, D.9
Ye, K.10
Buja, A.11
Krieger, A.12
Yoon, S.13
Troge, J.14
Rodgers, L.15
Iossifov, I.16
Wigler, M.17
-
64
-
-
84885107449
-
Global transcriptional and translational repression in human-embryonic-stem-cell-derived Rett syndrome neurons
-
Li Y, Wang H, Muffat J, Cheng AW, Orlando DA, Loven J, Kwok S, Feldman DA, Bateup HS, Gao Q, Vander Heiden MG, Sur M, Young RA, Jaenisch R (2013) Global transcriptional and translational repression in human-embryonic-stem- cell-derived Rett syndrome neurons. Cell Stem Cell 13:446-458
-
(2013)
Cell Stem Cell
, vol.13
, pp. 446-458
-
-
Li, Y.1
Wang, H.2
Muffat, J.3
Cheng, A.W.4
Orlando, D.A.5
Loven, J.6
Kwok, S.7
Feldman, D.A.8
Bateup, H.S.9
Gao, Q.10
Vander Heiden, M.G.11
Sur, M.12
Young, R.A.13
Jaenisch, R.14
-
65
-
-
84872722295
-
Rare complete knockouts in humans: Population distribution and significant role in autism spectrum disorders
-
Lim ET, Raychaudhuri S, Sanders SJ, Stevens C, Sabo A, MacArthur DG, Neale BM, Kirby A, Ruderfer DM, Fromer M, Lek M, Liu L, Flannick J, Ripke S, Nagaswamy U, Muzny D, Reid JG, Hawes A, Newsham I, Wu Y, Lewis L, Dinh H, Gross S, Wang LS, Lin CF, Valladares O, Gabriel SB, dePristo M, Altshuler DM, Purcell SM, State MW, Boerwinkle E, Buxbaum JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Daly MJ (2013) Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 77:235-242
-
(2013)
Neuron
, vol.77
, pp. 235-242
-
-
Lim, E.T.1
Raychaudhuri, S.2
Sanders, S.J.3
Stevens, C.4
Sabo, A.5
MacArthur, D.G.6
Neale, B.M.7
Kirby, A.8
Ruderfer, D.M.9
Fromer, M.10
Lek, M.11
Liu, L.12
Flannick, J.13
Ripke, S.14
Nagaswamy, U.15
Muzny, D.16
Reid, J.G.17
Hawes, A.18
Newsham, I.19
Wu, Y.20
Lewis, L.21
Dinh, H.22
Gross, S.23
Wang, L.S.24
Lin, C.F.25
Valladares, O.26
Gabriel, S.B.27
DePristo, M.28
Altshuler, D.M.29
Purcell, S.M.30
State, M.W.31
Boerwinkle, E.32
Buxbaum, J.D.33
Cook, E.H.34
Gibbs, R.A.35
Schellenberg, G.D.36
Sutcliffe, J.S.37
Devlin, B.38
Roeder, K.39
Daly, M.J.40
more..
-
66
-
-
80052536392
-
RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders
-
Lin M, Pedrosa E, Shah A, Hrabovsky A, Maqbool S, Zheng D, Lachman HM (2011) RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders. PLoS One 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
Lachman, H.M.7
-
67
-
-
35948946526
-
Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery
-
DOI 10.1038/nbt1353, PII NBT1353
-
Lombardo A, Genovese P, Beausejour CM, Colleoni S, Lee YL, Kim KA, Ando D, Urnov FD, Galli C, Gregory PD, Holmes MC, Naldini L (2007) Gene editing in human stem cells using zinc finger nucleases and integrase-defective lentiviral vector delivery. Nat Biotechnol 25:1298-1306 (Pubitemid 350076515)
-
(2007)
Nature Biotechnology
, vol.25
, Issue.11
, pp. 1298-1306
-
-
Lombardo, A.1
Genovese, P.2
Beausejour, C.M.3
Colleoni, S.4
Lee, Y.-L.5
Kim, K.A.6
Ando, D.7
Urnov, F.D.8
Galli, C.9
Gregory, P.D.10
Holmes, M.C.11
Naldini, L.12
-
68
-
-
77952353946
-
Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells
-
Luo Y, Shan G, Guo W, Smrt RD, Johnson EB, Li X, Pfeiffer RL, Szulwach KE, Duan R, Barkho BZ, Li W, Liu C, Jin P, Zhao X (2010) Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. PLoS Genet 6:e1000898
-
(2010)
PLoS Genet
, vol.6
-
-
Luo, Y.1
Shan, G.2
Guo, W.3
Smrt, R.D.4
Johnson, E.B.5
Li, X.6
Pfeiffer, R.L.7
Szulwach, K.E.8
Duan, R.9
Barkho, B.Z.10
Li, W.11
Liu, C.12
Jin, P.13
Zhao, X.14
-
69
-
-
78149488365
-
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
-
Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, Chen G, Gage FH, Muotri AR (2010) A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell 143:527-539
-
(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
Chen, G.7
Gage, F.H.8
Muotri, A.R.9
-
70
-
-
35148885611
-
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
-
DOI 10.1002/ajmg.b.30530
-
Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH (2007) Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet 144B:869-876 (Pubitemid 47547986)
-
(2007)
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
, vol.144
, Issue.7
, pp. 869-876
-
-
Martin, C.L.1
Duvall, J.A.2
Ilkin, Y.3
Simon, J.S.4
Arreaza, M.G.5
Wilkes, K.6
Alvarez-Retuerto, A.7
Whichello, A.8
Powell, C.M.9
Rao, K.10
Cook, E.11
Geschwind, D.H.12
-
71
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy SE, Makarov V, Kirov G, Addington AM, McClellan J, Yoon S, Perkins DO, Dickel DE, Kusenda M, Krastoshevsky O, Krause V, Kumar RA, Grozeva D, Malhotra D, Walsh T, Zackai EH, Kaplan P, Ganesh J, Krantz ID, Spinner NB, Roccanova P, Bhandari A, Pavon K, Lakshmi B, Leotta A, Kendall J, Lee YH, Vacic V, Gary S, Iakoucheva LM, Crow TJ, Christian SL, Lieberman JA, Stroup TS, Lehtimaki T, Puura K, Haldeman-Englert C, Pearl J, Goodell M, Willour VL, Derosse P, Steele J, Kassem L, Wolff J, Chitkara N, McMahon FJ, Malhotra AK, Potash JB, Schulze TG, Nothen MM, Cichon S, Rietschel M, Leibenluft E, Kustanovich V, Lajonchere CM, Sutcliffe JS, Skuse D, Gill M, Gallagher L, Mendell NR, Craddock N, Owen MJ, O'Donovan MC, Shaikh TH, Susser E, Delisi LE, Sullivan PF, Deutsch CK, Rapoport J, Levy DL, King MC, Sebat J (2009) Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 41:1223-1227
-
(2009)
Nat Genet
, vol.41
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
Addington, A.M.4
McClellan, J.5
Yoon, S.6
Perkins, D.O.7
Dickel, D.E.8
Kusenda, M.9
Krastoshevsky, O.10
Krause, V.11
Kumar, R.A.12
Grozeva, D.13
Malhotra, D.14
Walsh, T.15
Zackai, E.H.16
Kaplan, P.17
Ganesh, J.18
Krantz, I.D.19
Spinner, N.B.20
Roccanova, P.21
Bhandari, A.22
Pavon, K.23
Lakshmi, B.24
Leotta, A.25
Kendall, J.26
Lee, Y.H.27
Vacic, V.28
Gary, S.29
Iakoucheva, L.M.30
Crow, T.J.31
Christian, S.L.32
Lieberman, J.A.33
Stroup, T.S.34
Lehtimaki, T.35
Puura, K.36
Haldeman-Englert, C.37
Pearl, J.38
Goodell, M.39
Willour, V.L.40
Derosse, P.41
Steele, J.42
Kassem, L.43
Wolff, J.44
Chitkara, N.45
McMahon, F.J.46
Malhotra, A.K.47
Potash, J.B.48
Schulze, T.G.49
Nothen, M.M.50
Cichon, S.51
Rietschel, M.52
Leibenluft, E.53
Kustanovich, V.54
Lajonchere, C.M.55
Sutcliffe, J.S.56
Skuse, D.57
Gill, M.58
Gallagher, L.59
Mendell, N.R.60
Craddock, N.61
Owen, M.J.62
O'Donovan, M.C.63
Shaikh, T.H.64
Susser, E.65
Delisi, L.E.66
Sullivan, P.F.67
Deutsch, C.K.68
Rapoport, J.69
Levy, D.L.70
King, M.C.71
Sebat, J.72
more..
-
72
-
-
77953980857
-
Copy number variants at Williams-Beuren syndrome 7q11.23 region
-
Merla G, Brunetti-Pierri N, Micale L, Fusco C (2010) Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet 128:3-26
-
(2010)
Hum Genet
, vol.128
, pp. 3-26
-
-
Merla, G.1
Brunetti-Pierri, N.2
Micale, L.3
Fusco, C.4
-
73
-
-
77951537179
-
Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches
-
Mervis CB, John AE (2010) Cognitive and behavioral characteristics of children with Williams syndrome: implications for intervention approaches. Am J Med Genet C: Semin Med Genet 154C:229-248
-
(2010)
Am J Med Genet C: Semin Med Genet
, vol.154 C
, pp. 229-248
-
-
Mervis, C.B.1
John, A.E.2
-
74
-
-
84871595000
-
Whole-genome sequencing in autism identifies hot spots for de novo germline mutation
-
Michaelson JJ, Shi Y, Gujral M, Zheng H, Malhotra D, Jin X, Jian M, Liu G, Greer D, Bhandari A, Wu W, Corominas R, Peoples A, Koren A, Gore A, Kang S, Lin GN, Estabillo J, Gadomski T, Singh B, Zhang K, Akshoomoff N, Corsello C, McCarroll S, Iakoucheva LM, Li Y, Wang J, Sebat J (2012) Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. Cell 151:1431-1442
-
(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
Jian, M.7
Liu, G.8
Greer, D.9
Bhandari, A.10
Wu, W.11
Corominas, R.12
Peoples, A.13
Koren, A.14
Gore, A.15
Kang, S.16
Lin, G.N.17
Estabillo, J.18
Gadomski, T.19
Singh, B.20
Zhang, K.21
Akshoomoff, N.22
Corsello, C.23
McCarroll, S.24
Iakoucheva, L.M.25
Li, Y.26
Wang, J.27
Sebat, J.28
more..
-
75
-
-
84859628864
-
Chronic pharmacological mGlu5 inhibition corrects fragile Xin adult mice
-
Michalon A, Sidorov M, Ballard TM, Ozmen L, Spooren W, Wettstein JG, Jaeschke G, Bear MF, Lindemann L (2012) Chronic pharmacological mGlu5 inhibition corrects fragile Xin adult mice. Neuron 74:49-56
-
(2012)
Neuron
, vol.74
, pp. 49-56
-
-
Michalon, A.1
Sidorov, M.2
Ballard, T.M.3
Ozmen, L.4
Spooren, W.5
Wettstein, J.G.6
Jaeschke, G.7
Bear, M.F.8
Lindemann, L.9
-
76
-
-
36048962688
-
Management of children with autism spectrum disorders
-
DOI 10.1542/peds.2007-2362
-
Myers SM, Johnson CP (2007) Management of children with autism spectrum disorders. Pediatrics 120:1162-1182 (Pubitemid 350085560)
-
(2007)
Pediatrics
, vol.120
, Issue.5
, pp. 1162-1182
-
-
Myers, S.M.1
Johnson, C.P.2
Lipkin, P.H.3
Cartwright, J.D.4
Desch, L.W.5
Duby, J.C.6
Elias, E.R.7
Levey, E.B.8
Liptak, G.S.9
Murphy, N.A.10
Tilton, A.H.11
Lollar, D.12
Macias, M.13
McPherson, M.14
Olson, D.G.15
Strickland, B.16
Skipper, S.M.17
Ackermann, J.18
Del, M.M.19
Challman, T.D.20
Hyman, S.L.21
Levy, S.E.22
Spooner, S.A.23
Yeargin-Allsopp, M.24
more..
-
77
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, Sabo A, Lin CF, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, DePristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH Jr, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ (2012) Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485:242-245
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'Ayan, A.4
Samocha, K.E.5
Sabo, A.6
Lin, C.F.7
Stevens, C.8
Wang, L.S.9
Makarov, V.10
Polak, P.11
Yoon, S.12
Maguire, J.13
Crawford, E.L.14
Campbell, N.G.15
Geller, E.T.16
Valladares, O.17
Schafer, C.18
Liu, H.19
Zhao, T.20
Cai, G.21
Lihm, J.22
Dannenfelser, R.23
Jabado, O.24
Peralta, Z.25
Nagaswamy, U.26
Muzny, D.27
Reid, J.G.28
Newsham, I.29
Wu, Y.30
Lewis, L.31
Han, Y.32
Voight, B.F.33
Lim, E.34
Rossin, E.35
Kirby, A.36
Flannick, J.37
Fromer, M.38
Shakir, K.39
Fennell, T.40
Garimella, K.41
Banks, E.42
Poplin, R.43
Gabriel, S.44
DePristo, M.45
Wimbish, J.R.46
Boone, B.E.47
Levy, S.E.48
Betancur, C.49
Sunyaev, S.50
Boerwinkle, E.51
Buxbaum, J.D.52
Cook Jr., E.H.53
Devlin, B.54
Gibbs, R.A.55
Roeder, K.56
Schellenberg, G.D.57
Sutcliffe, J.S.58
Daly, M.J.59
more..
-
78
-
-
84877301288
-
Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development
-
Nicholas CR, Chen J, Tang Y, Southwell DG, Chalmers N, Vogt D, Arnold CM, Chen YJ, Stanley EG, Elefanty AG, Sasai Y, Alvarez-Buylla A, Rubenstein JL, Kriegstein AR (2013) Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development. Cell Stem Cell 12:573-586
-
(2013)
Cell Stem Cell
, vol.12
, pp. 573-586
-
-
Nicholas, C.R.1
Chen, J.2
Tang, Y.3
Southwell, D.G.4
Chalmers, N.5
Vogt, D.6
Arnold, C.M.7
Chen, Y.J.8
Stanley, E.G.9
Elefanty, A.G.10
Sasai, Y.11
Alvarez-Buylla, A.12
Rubenstein, J.L.13
Kriegstein, A.R.14
-
79
-
-
79960854285
-
Induction of human neuronal cells by defined transcription factors
-
Pang ZP, Yang N, Vierbuchen T, Ostermeier A, Fuentes DR, Yang TQ, Citri A, Sebastiano V, Marro S, Sudhof TC, Wernig M (2011) Induction of human neuronal cells by defined transcription factors. Nature 476:220-223
-
(2011)
Nature
, vol.476
, pp. 220-223
-
-
Pang, Z.P.1
Yang, N.2
Vierbuchen, T.3
Ostermeier, A.4
Fuentes, D.R.5
Yang, T.Q.6
Citri, A.7
Sebastiano, V.8
Marro, S.9
Sudhof, T.C.10
Wernig, M.11
-
80
-
-
84856088804
-
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
-
Pasca SP, Portmann T, Voineagu I, Yazawa M, Shcheglovitov A, Pasca AM, Cord B, Palmer TD, Chikahisa S, Nishino S, Bernstein JA, Hallmayer J, Geschwind DH, Dolmetsch RE (2011) Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome. Nat Med 17:1657-1662
-
(2011)
Nat Med
, vol.17
, pp. 1657-1662
-
-
Pasca, S.P.1
Portmann, T.2
Voineagu, I.3
Yazawa, M.4
Shcheglovitov, A.5
Pasca, A.M.6
Cord, B.7
Palmer, T.D.8
Chikahisa, S.9
Nishino, S.10
Bernstein, J.A.11
Hallmayer, J.12
Geschwind, D.H.13
Dolmetsch, R.E.14
-
81
-
-
70350191753
-
Activin/Nodal inhibition alone accelerates highly efficient neural conversion from human embryonic stem cells and imposes a caudal positional identity
-
Patani R, Compston A, Puddifoot CA, Wyllie DJ, Hardingham GE, Allen ND, Chandran S (2009) Activin/Nodal inhibition alone accelerates highly efficient neural conversion from human embryonic stem cells and imposes a caudal positional identity. PLoS One 4:e7327
-
(2009)
PLoS One
, vol.4
-
-
Patani, R.1
Compston, A.2
Puddifoot, C.A.3
Wyllie, D.J.4
Hardingham, G.E.5
Allen, N.D.6
Chandran, S.7
-
82
-
-
79955536349
-
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
-
Peca J, Feliciano C, Ting JT, Wang W, Wells MF, Venkatraman TN, Lascola CD, Fu Z, Feng G (2011) Shank3 mutant mice display autistic-like behaviours and striatal dysfunction. Nature 472:437-442
-
(2011)
Nature
, vol.472
, pp. 437-442
-
-
Peca, J.1
Feliciano, C.2
Ting, J.T.3
Wang, W.4
Wells, M.F.5
Venkatraman, T.N.6
Lascola, C.D.7
Fu, Z.8
Feng, G.9
-
83
-
-
0024494063
-
The association of Angelman's syndrome with deletions within 15p11-13
-
Pembrey M, Fennell SJ, van den Berghe J, Fitchett M, Summers D, Butler L, Clarke C, Griffiths M, Thompson E, Super M (1989) The association of Angelman's syndrome with deletions within 15q11-13. J Med Genet 26:73-77 (Pubitemid 19047354)
-
(1989)
Journal of Medical Genetics
, vol.26
, Issue.2
, pp. 73-77
-
-
Pembrey, M.1
Fennell, S.J.2
Van Den, B.J.3
Fitchett, M.4
Summers, D.5
Butler, L.6
Clarke, C.7
Griffiths, M.8
Thompson, E.9
Super, M.10
Baraitser, M.11
-
84
-
-
80053540965
-
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
-
Penagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, Dong H, Sonnenblick LI, Gruver R, Almajano J, Bragin A, Golshani P, Trachtenberg JT, Peles E, Geschwind DH (2011) Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147:235-246
-
(2011)
Cell
, vol.147
, pp. 235-246
-
-
Penagarikano, O.1
Abrahams, B.S.2
Herman, E.I.3
Winden, K.D.4
Gdalyahu, A.5
Dong, H.6
Sonnenblick, L.I.7
Gruver, R.8
Almajano, J.9
Bragin, A.10
Golshani, P.11
Trachtenberg, J.T.12
Peles, E.13
Geschwind, D.H.14
-
85
-
-
84879956588
-
Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders
-
Penzes P, Buonanno A, Passafaro M, Sala C, Sweet RA (2013) Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders. J Neurochem 126:165-182
-
(2013)
J Neurochem
, vol.126
, pp. 165-182
-
-
Penzes, P.1
Buonanno, A.2
Passafaro, M.3
Sala, C.4
Sweet, R.A.5
-
86
-
-
1842426937
-
Regulation of human embryonic stem cell differentiation by BMP-2 and its antagonist noggin
-
DOI 10.1242/jcs.00970
-
Pera MF, Andrade J, Houssami S, Reubinoff B, Trounson A, Stanley EG, Ward-van Oostwaard D, Mummery C (2004) Regulation of human embryonic stem cell differentiation by BMP-2 and its antagonist noggin. J Cell Sci 117:1269-1280 (Pubitemid 38456107)
-
(2004)
Journal of Cell Science
, vol.117
, Issue.7
, pp. 1269-1280
-
-
Pera, M.F.1
Andrade, J.2
Houssami, S.3
Reubinoff, B.4
Trounson, A.5
Stanley, E.G.6
Ward-van, O.D.7
Mummery, C.8
-
87
-
-
84860172447
-
The 22q13.3 deletion syndrome (Phelan-McDermid syndrome)
-
Phelan K, McDermid HE (2012) The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). Mol Syndromol (3-5):186-201
-
(2012)
Mol Syndromol
, vol.3-5
, pp. 186-201
-
-
Phelan, K.1
McDermid, H.E.2
-
88
-
-
79961131135
-
Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons
-
Qiang L, Fujita R, Yamashita T, Angulo S, Rhinn H, Rhee D, Doege C, Chau L, Aubry L, Vanti WB, Moreno H, Abeliovich A (2011) Directed conversion of Alzheimer's disease patient skin fibroblasts into functional neurons. Cell 146:359-371
-
(2011)
Cell
, vol.146
, pp. 359-371
-
-
Qiang, L.1
Fujita, R.2
Yamashita, T.3
Angulo, S.4
Rhinn, H.5
Rhee, D.6
Doege, C.7
Chau, L.8
Aubry, L.9
Vanti, W.B.10
Moreno, H.11
Abeliovich, A.12
-
89
-
-
35648970050
-
Side effects of genome structural changes
-
DOI 10.1016/j.gde.2007.08.009, PII S0959437X07001608, Differentiation and Gene Regulation
-
Reymond A, Henrichsen CN, Harewood L, Merla G (2007) Side effects of genome structural changes. Curr Opin Genet Dev 17:381-386 (Pubitemid 350019564)
-
(2007)
Current Opinion in Genetics and Development
, vol.17
, Issue.5
, pp. 381-386
-
-
Reymond, A.1
Henrichsen, C.N.2
Harewood, L.3
Merla, G.4
-
90
-
-
84855895468
-
Efficient generation of A9 midbrain dopaminergic neurons by lentiviral delivery of LMX1A in human embryonic stem cells and induced pluripotent stem cells
-
Sanchez-Danes A, Consiglio A, Richaud Y, Rodriguez-Piza I, Dehay B, Edel M, Bove J, Memo M, Vila M, Raya A, Izpisua Belmonte JC (2012a) Efficient generation of A9 midbrain dopaminergic neurons by lentiviral delivery of LMX1A in human embryonic stem cells and induced pluripotent stem cells. Hum Gene Ther 23:56-69
-
(2012)
Hum Gene Ther
, vol.23
, pp. 56-69
-
-
Sanchez-Danes, A.1
Consiglio, A.2
Richaud, Y.3
Rodriguez-Piza, I.4
Dehay, B.5
Edel, M.6
Bove, J.7
Memo, M.8
Vila, M.9
Raya, A.10
Izpisua Belmonte, J.C.11
-
91
-
-
84860510280
-
Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease
-
Sanchez-Danes A, Richaud-Patin Y, Carballo-Carbajal I, Jimenez-Delgado S, Caig C, Mora S, Di Guglielmo C, Ezquerra M, Patel B, Giralt A, Canals JM, Memo M, Alberch J, Lopez-Barneo J, Vila M, Cuervo AM, Tolosa E, Consiglio A, Raya A (2012b) Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease. EMBO Mol Med 4:380-395
-
(2012)
EMBO Mol Med
, vol.4
, pp. 380-395
-
-
Sanchez-Danes, A.1
Richaud-Patin, Y.2
Carballo-Carbajal, I.3
Jimenez-Delgado, S.4
Caig, C.5
Mora, S.6
Di Guglielmo, C.7
Ezquerra, M.8
Patel, B.9
Giralt, A.10
Canals, J.M.11
Memo, M.12
Alberch, J.13
Lopez-Barneo, J.14
Vila, M.15
Cuervo, A.M.16
Tolosa, E.17
Consiglio, A.18
Raya, A.19
-
92
-
-
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, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Gunel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH Jr, Geschwind D, Roeder K, Devlin B, State MW (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70:863-885
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
Luo, R.4
Murtha, M.T.5
Moreno-De-Luca, D.6
Chu, S.H.7
Moreau, M.P.8
Gupta, A.R.9
Thomson, S.A.10
Mason, C.E.11
Bilguvar, K.12
Celestino-Soper, P.B.13
Choi, M.14
Crawford, E.L.15
Davis, L.16
Wright, N.R.17
Dhodapkar, R.M.18
DiCola, M.19
DiLullo, N.M.20
Fernandez, T.V.21
Fielding-Singh, V.22
Fishman, D.O.23
Frahm, S.24
Garagaloyan, R.25
Goh, G.S.26
Kammela, S.27
Klei, L.28
Lowe, J.K.29
Lund, S.C.30
McGrew, A.D.31
Meyer, K.A.32
Moffat, W.J.33
Murdoch, J.D.34
O'Roak, B.J.35
Ober, G.T.36
Pottenger, R.S.37
Raubeson, M.J.38
Song, Y.39
Wang, Q.40
Yaspan, B.L.41
Yu, T.W.42
Yurkiewicz, I.R.43
Beaudet, A.L.44
Cantor, R.M.45
Curland, M.46
Grice, D.E.47
Gunel, M.48
Lifton, R.P.49
Mane, S.M.50
Martin, D.M.51
Shaw, C.A.52
Sheldon, M.53
Tischfield, J.A.54
Walsh, C.A.55
Morrow, E.M.56
Ledbetter, D.H.57
Fombonne, E.58
Lord, C.59
Martin, C.L.60
Brooks, A.I.61
Sutcliffe, J.S.62
Cook Jr., E.H.63
Geschwind, D.64
Roeder, K.65
Devlin, B.66
State, M.W.67
more..
-
93
-
-
84872617263
-
Exaggerated translation causes synaptic and behavioural aberrations associated with autism
-
Santini E, Huynh TN, MacAskill AF, Carter AG, Pierre P, Ruggero D, Kaphzan H, Klann E (2013) Exaggerated translation causes synaptic and behavioural aberrations associated with autism. Nature 493:411-415
-
(2013)
Nature
, vol.493
, pp. 411-415
-
-
Santini, E.1
Huynh, T.N.2
MacAskill, A.F.3
Carter, A.G.4
Pierre, P.5
Ruggero, D.6
Kaphzan, H.7
Klann, E.8
-
94
-
-
79958071067
-
Solving the autismpuzzle a few pieces at a time
-
Schaaf CP, Zoghbi HY (2011) Solving the autismpuzzle a few pieces at a time. Neuron 70:806-808
-
(2011)
Neuron
, vol.70
, pp. 806-808
-
-
Schaaf, C.P.1
Zoghbi, H.Y.2
-
95
-
-
79952361702
-
Bridging the gap between MRI and postmortem research in autism
-
Schumann CM, Nordahl CW (2011) Bridging the gap between MRI and postmortem research in autism. Brain Res 1380:175-186
-
(2011)
Brain Res
, vol.1380
, pp. 175-186
-
-
Schumann, C.M.1
Nordahl, C.W.2
-
96
-
-
84855360853
-
Derivation of induced pluripotent stem cells from human peripheral circulating T cells
-
Chapter 4: Unit4A 3
-
Seki T, Yuasa S, Fukuda K (2011) Derivation of induced pluripotent stem cells from human peripheral circulating T cells. Curr Protoc Stem Cell Biol Chapter 4: Unit4A 3
-
(2011)
Curr Protoc Stem Cell Biol
-
-
Seki, T.1
Yuasa, S.2
Fukuda, K.3
-
97
-
-
80455167907
-
Abnormal brain protein synthesis in language areas of children with pervasive developmental disorder: A L-[1-11C]-leucine PET study
-
Shandal V, Sundaram SK, Chugani DC, Kumar A, Behen ME, Chugani HT (2011) Abnormal brain protein synthesis in language areas of children with pervasive developmental disorder: a L-[1-11C]-leucine PET study. J Child Neurol 26:1347-1354
-
(2011)
J Child Neurol
, vol.26
, pp. 1347-1354
-
-
Shandal, V.1
Sundaram, S.K.2
Chugani, D.C.3
Kumar, A.4
Behen, M.E.5
Chugani, H.T.6
-
98
-
-
84887627330
-
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
-
doi:10.1038/nature12618
-
Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, Krawisz A, Froehlich W, Bernstein JA, Hallmayer JF, Dolmetsch RE (2013) SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature. doi:10.1038/nature12618
-
(2013)
Nature
-
-
Shcheglovitov, A.1
Shcheglovitova, O.2
Yazawa, M.3
Portmann, T.4
Shu, R.5
Sebastiano, V.6
Krawisz, A.7
Froehlich, W.8
Bernstein, J.A.9
Hallmayer, J.F.10
Dolmetsch, R.E.11
-
99
-
-
80053948646
-
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome
-
Sheridan SD, Theriault KM, Reis SA, Zhou F, Madison JM, Daheron L, Loring JF, Haggarty SJ (2011) Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome. PLoS One 6:e26203
-
(2011)
PLoS One
, vol.6
-
-
Sheridan, S.D.1
Theriault, K.M.2
Reis, S.A.3
Zhou, F.4
Madison, J.M.5
Daheron, L.6
Loring, J.F.7
Haggarty, S.J.8
-
100
-
-
84870030633
-
Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks
-
Shi Y, Kirwan P, Livesey FJ (2012a) Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks. Nat Protoc 7:1836-1846
-
(2012)
Nat Protoc
, vol.7
, pp. 1836-1846
-
-
Shi, Y.1
Kirwan, P.2
Livesey, F.J.3
-
101
-
-
84863229339
-
A human stem cell model of early Alzheimer's disease pathology in Down syndrome
-
Shi Y, Kirwan P, Smith J, MacLean G, Orkin SH, Livesey FJ (2012b) A human stem cell model of early Alzheimer's disease pathology in Down syndrome. Sci Trans Med 4:124-ra129
-
(2012)
Sci Trans Med
, vol.4
-
-
Shi, Y.1
Kirwan, P.2
Smith, J.3
MacLean, G.4
Orkin, S.H.5
Livesey, F.J.6
-
102
-
-
84862778046
-
Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses
-
Shi Y, Kirwan P, Smith J, Robinson HP, Livesey FJ (2012c) Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses. Nat Neurosci 15:477-486, S471
-
(2012)
Nat Neurosci
, vol.15
-
-
Shi, Y.1
Kirwan, P.2
Smith, J.3
Robinson, H.P.4
Livesey, F.J.5
-
103
-
-
84860358233
-
Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism
-
Silverman JL, Smith DG, Rizzo SJ, Karras MN, Turner SM, Tolu SS, Bryce DK, Smith DL, Fonseca K, Ring RH, Crawley JN (2012) Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism. Sci Transl Med 4:131ra51
-
(2012)
Sci Transl Med
, vol.4
-
-
Silverman, J.L.1
Smith, D.G.2
Rizzo, S.J.3
Karras, M.N.4
Turner, S.M.5
Tolu, S.S.6
Bryce, D.K.7
Smith, D.L.8
Fonseca, K.9
Ring, R.H.10
Crawley, J.N.11
-
104
-
-
5344223383
-
V1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
DOI 10.1016/j.cell.2004.09.011, PII S0092867404008426
-
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT (2004) Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119:19-31 (Pubitemid 39349317)
-
(2004)
Cell
, vol.119
, Issue.1
, 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
Tager-Flusberg, H.11
Priori, S.G.12
Sanguinetti, M.C.13
Keating, M.T.14
-
105
-
-
20444426877
-
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
-
discussion 8086-8088
-
Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT (2005) Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A 102:8089-8096, discussion 8086-8088
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 8089-8096
-
-
Splawski, I.1
Timothy, K.W.2
Decher, N.3
Kumar, P.4
Sachse, F.B.5
Beggs, A.H.6
Sanguinetti, M.C.7
Keating, M.T.8
-
106
-
-
84868688840
-
Timothy Syndrome
-
Pagon RABT, Dolan CR, Stephens K, Adam MP (eds) [Internet]. University of Washington, Seattle
-
Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R (2006) Timothy Syndrome. In: Pagon RABT, Dolan CR, Stephens K, Adam MP (eds) GeneReviews™ [Internet]. University of Washington, Seattle
-
(2006)
GeneReviews™
-
-
Splawski, I.1
Timothy, K.W.2
Priori, S.G.3
Napolitano, C.4
Bloise, R.5
-
107
-
-
0024523493
-
A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden
-
DOI 10.1111/j.1469-7610.1989.tb00254.x
-
Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M (1989) A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 30:405-416 (Pubitemid 19131643)
-
(1989)
Journal of Child Psychology and Psychiatry and Allied Disciplines
, vol.30
, Issue.3
, pp. 405-416
-
-
Steffenburg, S.1
Gillberg, C.2
Hellgren, L.3
Andersson, L.4
Gillberg, I.C.5
Jakobsson, G.6
Bohman, M.7
-
108
-
-
84872714472
-
Rare inherited variation in autism: Beginning to see the forest and a few trees
-
Stein JL, Parikshak NN, Geschwind DH (2013) Rare inherited variation in autism: beginning to see the forest and a few trees. Neuron 77:209-211
-
(2013)
Neuron
, vol.77
, pp. 209-211
-
-
Stein, J.L.1
Parikshak, N.N.2
Geschwind, D.H.3
-
109
-
-
33747195353
-
Induction of Pluripotent Stem Cells from Mouse Embryonic and Adult Fibroblast Cultures by Defined Factors
-
DOI 10.1016/j.cell.2006.07.024, PII S0092867406009767
-
Takahashi K, Yamanaka S (2006) Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell 126:663-676 (Pubitemid 44233629)
-
(2006)
Cell
, vol.126
, Issue.4
, pp. 663-676
-
-
Takahashi, K.1
Yamanaka, S.2
-
110
-
-
36248966518
-
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
-
DOI 10.1016/j.cell.2007.11.019, PII S0092867407014717
-
Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S (2007) Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell 131:861-872 (Pubitemid 350138099)
-
(2007)
Cell
, vol.131
, Issue.5
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
Yamanaka, S.7
-
111
-
-
60549115413
-
Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice
-
Tropea D, Giacometti E, Wilson NR, Beard C, McCurry C, Fu DD, Flannery R, Jaenisch R, Sur M (2009) Partial reversal of Rett syndrome-like symptoms in MeCP2 mutant mice. Proc Natl Acad Sci U S A 106:2029-2034
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 2029-2034
-
-
Tropea, D.1
Giacometti, E.2
Wilson, N.R.3
Beard, C.4
McCurry, C.5
Fu, D.D.6
Flannery, R.7
Jaenisch, R.8
Sur, M.9
-
112
-
-
77956214743
-
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
-
Urbach A, Bar-Nur O, Daley GQ, Benvenisty N (2010) Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells. Cell Stem Cell 6:407-411
-
(2010)
Cell Stem Cell
, vol.6
, pp. 407-411
-
-
Urbach, A.1
Bar-Nur, O.2
Daley, G.Q.3
Benvenisty, N.4
-
113
-
-
77649162059
-
Direct conversion of fibroblasts to functional neurons by defined factors
-
Vierbuchen T, Ostermeier A, Pang ZP, Kokubu Y, Sudhof TC, Wernig M (2010) Direct conversion of fibroblasts to functional neurons by defined factors. Nature 463:1035-1041
-
(2010)
Nature
, vol.463
, pp. 1035-1041
-
-
Vierbuchen, T.1
Ostermeier, A.2
Pang, Z.P.3
Kokubu, Y.4
Sudhof, T.C.5
Wernig, M.6
-
114
-
-
79959262465
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
-
Voineagu I, Wang X, Johnston P, Lowe JK, Tian Y, Horvath S, Mill J, Cantor RM, Blencowe BJ, Geschwind DH (2011) Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 474:380-384
-
(2011)
Nature
, vol.474
, pp. 380-384
-
-
Voineagu, I.1
Wang, X.2
Johnston, P.3
Lowe, J.K.4
Tian, Y.5
Horvath, S.6
Mill, J.7
Cantor, R.M.8
Blencowe, B.J.9
Geschwind, D.H.10
-
115
-
-
33644865491
-
Angelman syndrome 2005: Updated consensus for diagnostic criteria
-
DOI 10.1002/ajmg.a.31074
-
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J (2006) Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 140:413-418 (Pubitemid 43376311)
-
(2006)
American Journal of Medical Genetics
, vol.140 A
, Issue.5
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
Knoll, J.H.4
Kyllerman, M.5
Laan, L.A.6
Magenis, R.E.7
Moncla, A.8
Schinzel, A.A.9
Summers, J.A.10
Wagstaff, J.11
-
116
-
-
84876565784
-
EENdb: A database and knowledge base of ZFNs and TALENs for endonuclease engineering
-
Xiao A, Wu Y, Yang Z, Hu Y, Wang W, Zhang Y, Kong L, Gao G, Zhu Z, Lin S, Zhang B (2013) EENdb: a database and knowledge base of ZFNs and TALENs for endonuclease engineering. Nucleic Acids Res 41:D415-D422
-
(2013)
Nucleic Acids Res
, vol.41
-
-
Xiao, A.1
Wu, Y.2
Yang, Z.3
Hu, Y.4
Wang, W.5
Zhang, Y.6
Kong, L.7
Gao, G.8
Zhu, Z.9
Lin, S.10
Zhang, B.11
-
117
-
-
84866647783
-
Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons
-
Yazdani M, Deogracias R, Guy J, Poot RA, Bird A, Barde YA (2012) Disease modeling using embryonic stem cells: MeCP2 regulates nuclear size and RNA synthesis in neurons. Stem Cells 30:2128-2139
-
(2012)
Stem Cells
, vol.30
, pp. 2128-2139
-
-
Yazdani, M.1
Deogracias, R.2
Guy, J.3
Poot, R.A.4
Bird, A.5
Barde, Y.A.6
-
118
-
-
84872696957
-
Using whole-exome sequencing to identify inherited causes of autism
-
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA (2013) Using whole-exome sequencing to identify inherited causes of autism. Neuron 77:259-273
-
(2013)
Neuron
, vol.77
, pp. 259-273
-
-
Yu, T.W.1
Chahrour, M.H.2
Coulter, M.E.3
Jiralerspong, S.4
Okamura-Ikeda, K.5
Ataman, B.6
Schmitz-Abe, K.7
Harmin, D.A.8
Adli, M.9
Malik, A.N.10
D'Gama, A.M.11
Lim, E.T.12
Sanders, S.J.13
Mochida, G.H.14
Partlow, J.N.15
Sunu, C.M.16
Felie, J.M.17
Rodriguez, J.18
Nasir, R.H.19
Ware, J.20
Joseph, R.M.21
Hill, R.S.22
Kwan, B.Y.23
Al-Saffar, M.24
Mukaddes, N.M.25
Hashmi, A.26
Balkhy, S.27
Gascon, G.G.28
Hisama, F.M.29
LeClair, E.30
Poduri, A.31
Oner, O.32
Al-Saad, S.33
Al-Awadi, S.A.34
Bastaki, L.35
Ben-Omran, T.36
Teebi, A.S.37
Al-Gazali, L.38
Eapen, V.39
Stevens, C.R.40
Rappaport, L.41
Gabriel, S.B.42
Markianos, K.43
State, M.W.44
Greenberg, M.E.45
Taniguchi, H.46
Braverman, N.E.47
Morrow, E.M.48
Walsh, C.A.49
more..
-
119
-
-
79952292990
-
Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells
-
Yuan SH, Martin J, Elia J, Flippin J, Paramban RI, Hefferan MP, Vidal JG, Mu Y, Killian RL, Israel MA, Emre N, Marsala S, Marsala M, Gage FH, Goldstein LS, Carson CT (2011) Cell-surface marker signatures for the isolation of neural stem cells, glia and neurons derived from human pluripotent stem cells. PLoS One 6:e17540
-
(2011)
PLoS One
, vol.6
-
-
Yuan, S.H.1
Martin, J.2
Elia, J.3
Flippin, J.4
Paramban, R.I.5
Hefferan, M.P.6
Vidal, J.G.7
Mu, Y.8
Killian, R.L.9
Israel, M.A.10
Emre, N.11
Marsala, S.12
Marsala, M.13
Gage, F.H.14
Goldstein, L.S.15
Carson, C.T.16
-
120
-
-
79960122427
-
Generation of induced pluripotent stem cells from urine
-
Zhou T, Benda C, Duzinger S, Huang Y, Li X, Li Y, Guo X, Cao G, Chen S, Hao L, Chan YC, Ng KM, Ho JC, Wieser M, Wu J, Redl H, Tse HF, Grillari J, Grillari-Voglauer R, Pei D, Esteban MA (2011) Generation of induced pluripotent stem cells from urine. J Am Soc Nephrol 22:1221-1228
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 1221-1228
-
-
Zhou, T.1
Benda, C.2
Duzinger, S.3
Huang, Y.4
Li, X.5
Li, Y.6
Guo, X.7
Cao, G.8
Chen, S.9
Hao, L.10
Chan, Y.C.11
Ng, K.M.12
Ho, J.C.13
Wieser, M.14
Wu, J.15
Redl, H.16
Tse, H.F.17
Grillari, J.18
Grillari-Voglauer, R.19
Pei, D.20
Esteban, M.A.21
more..
-
121
-
-
84870604270
-
Generation of human induced pluripotent stem cells from urine samples
-
Zhou T, Benda C, Dunzinger S, Huang Y, Ho JC, Yang J, Wang Y, Zhang Y, Zhuang Q, Li Y, Bao X, Tse HF, Grillari J, Grillari-Voglauer R, Pei D, Esteban MA (2012) Generation of human induced pluripotent stem cells from urine samples. Nat Protoc 7:2080-2089
-
(2012)
Nat Protoc
, vol.7
, pp. 2080-2089
-
-
Zhou, T.1
Benda, C.2
Dunzinger, S.3
Huang, Y.4
Ho, J.C.5
Yang, J.6
Wang, Y.7
Zhang, Y.8
Zhuang, Q.9
Li, Y.10
Bao, X.11
Tse, H.F.12
Grillari, J.13
Grillari-Voglauer, R.14
Pei, D.15
Esteban, M.A.16
|