-
1
-
-
0003472502
-
Diagnostic and Statistical Manual of Mental Disorders
-
Americal Psychiatric Publishing Arlington, VA
-
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 2013, Americal Psychiatric Publishing, Arlington, VA.
-
(2013)
-
-
-
2
-
-
24044530911
-
Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse
-
Benavides-Piccione, R., Dierssen, M., Ballesteros-Yáñez, I., Martínez de Lagrán, M., Arbonés, M.L., Fotaki, V., DeFelipe, J., Elston, G.N., Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+/- mouse. Neurobiol. Dis. 20 (2005), 115–122.
-
(2005)
Neurobiol. Dis.
, vol.20
, pp. 115-122
-
-
Benavides-Piccione, R.1
Dierssen, M.2
Ballesteros-Yáñez, I.3
Martínez de Lagrán, M.4
Arbonés, M.L.5
Fotaki, V.6
DeFelipe, J.7
Elston, G.N.8
-
3
-
-
84904635209
-
Disruptive CHD8 mutations define a subtype of autism early in development
-
Bernier, R., Golzio, C., Xiong, B., Stessman, H.A., Coe, B.P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A.T., et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 158 (2014), 263–276.
-
(2014)
Cell
, vol.158
, pp. 263-276
-
-
Bernier, R.1
Golzio, C.2
Xiong, B.3
Stessman, H.A.4
Coe, B.P.5
Penn, O.6
Witherspoon, K.7
Gerdts, J.8
Baker, C.9
Vulto-van Silfhout, A.T.10
-
4
-
-
84923221042
-
Morphological and functional aspects of progenitors perturbed in cortical malformations
-
Bizzotto, S., Francis, F., Morphological and functional aspects of progenitors perturbed in cortical malformations. Front. Cell. Neurosci., 9, 2015, 30.
-
(2015)
Front. Cell. Neurosci.
, vol.9
, pp. 30
-
-
Bizzotto, S.1
Francis, F.2
-
5
-
-
84902164648
-
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families
-
Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J.R., Manavalan, P., Zhou, J.Q., Wheeler, V.C., Levin, J.Z., et al. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am. J. Hum. Genet. 94 (2014), 870–883.
-
(2014)
Am. J. Hum. Genet.
, vol.94
, pp. 870-883
-
-
Blumenthal, I.1
Ragavendran, A.2
Erdin, S.3
Klei, L.4
Sugathan, A.5
Guide, J.R.6
Manavalan, P.7
Zhou, J.Q.8
Wheeler, V.C.9
Levin, J.Z.10
-
6
-
-
20244367771
-
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
-
Butler, M.G., Dasouki, M.J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T.N., Miles, J.H., Wang, C.H., Stratton, R., Pilarski, R., Eng, C., Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J. Med. Genet. 42 (2005), 318–321.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 318-321
-
-
Butler, M.G.1
Dasouki, M.J.2
Zhou, X.-P.3
Talebizadeh, Z.4
Brown, M.5
Takahashi, T.N.6
Miles, J.H.7
Wang, C.H.8
Stratton, R.9
Pilarski, R.10
Eng, C.11
-
7
-
-
84963543184
-
mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis
-
Costa, V., Aigner, S., Vukcevic, M., Sauter, E., Behr, K., Ebeling, M., Dunkley, T., Friedlein, A., Zoffmann, S., Meyer, C.A., et al. mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis. Cell Rep. 15 (2016), 86–95.
-
(2016)
Cell Rep.
, vol.15
, pp. 86-95
-
-
Costa, V.1
Aigner, S.2
Vukcevic, M.3
Sauter, E.4
Behr, K.5
Ebeling, M.6
Dunkley, T.7
Friedlein, A.8
Zoffmann, S.9
Meyer, C.A.10
-
8
-
-
84862871302
-
Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex
-
de Anda, F.C., Rosario, A.L., Durak, O., Tran, T., Gräff, J., Meletis, K., Rei, D., Soda, T., Madabhushi, R., Ginty, D.D., et al. Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex. Nat. Neurosci. 15 (2012), 1022–1031.
-
(2012)
Nat. Neurosci.
, vol.15
, pp. 1022-1031
-
-
de Anda, F.C.1
Rosario, A.L.2
Durak, O.3
Tran, T.4
Gräff, J.5
Meletis, K.6
Rei, D.7
Soda, T.8
Madabhushi, R.9
Ginty, D.D.10
-
9
-
-
0036724569
-
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
-
Fotaki, V., Dierssen, M., Alcántara, S., Martínez, S., Martí E., Casas, C., Visa, J., Soriano, E., Estivill, X., Arbonés, M.L., Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol. Cell. Biol. 22 (2002), 6636–6647.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 6636-6647
-
-
Fotaki, V.1
Dierssen, M.2
Alcántara, S.3
Martínez, S.4
Martí, E.5
Casas, C.6
Visa, J.7
Soriano, E.8
Estivill, X.9
Arbonés, M.L.10
-
10
-
-
84886286155
-
Genetic causes of microcephaly and lessons for neuronal development
-
Gilmore, E.C., Walsh, C.A., Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip. Rev. Dev. Biol. 2 (2013), 461–478.
-
(2013)
Wiley Interdiscip. Rev. Dev. Biol.
, vol.2
, pp. 461-478
-
-
Gilmore, E.C.1
Walsh, C.A.2
-
11
-
-
84879885338
-
Genetic architecture of reciprocal CNVs
-
Golzio, C., Katsanis, N., Genetic architecture of reciprocal CNVs. Curr. Opin. Genet. Dev. 23 (2013), 240–248.
-
(2013)
Curr. Opin. Genet. Dev.
, vol.23
, pp. 240-248
-
-
Golzio, C.1
Katsanis, N.2
-
12
-
-
84861075586
-
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
-
Golzio, C., Willer, J., Talkowski, M.E., Oh, E.C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J.F., et al. KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485 (2012), 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
-
13
-
-
0035824396
-
Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo
-
Groszer, M., Erickson, R., Scripture-Adams, D.D., Lesche, R., Trumpp, A., Zack, J.A., Kornblum, H.I., Liu, X., Wu, H., Negative regulation of neural stem/progenitor cell proliferation by the Pten tumor suppressor gene in vivo. Science 294 (2001), 2186–2189.
-
(2001)
Science
, vol.294
, pp. 2186-2189
-
-
Groszer, M.1
Erickson, R.2
Scripture-Adams, D.D.3
Lesche, R.4
Trumpp, A.5
Zack, J.A.6
Kornblum, H.I.7
Liu, X.8
Wu, H.9
-
14
-
-
84952890155
-
Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons
-
Habela, C.W., Song, H., Ming, G.-L., Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons. Mol. Cell. Neurosci. 73 (2016), 52–62.
-
(2016)
Mol. Cell. Neurosci.
, vol.73
, pp. 52-62
-
-
Habela, C.W.1
Song, H.2
Ming, G.-L.3
-
15
-
-
84945469911
-
Proliferation control in neural stem and progenitor cells
-
Homem, C.C.F., Repic, M., Knoblich, J.A., Proliferation control in neural stem and progenitor cells. Nat. Rev. Neurosci. 16 (2015), 647–659.
-
(2015)
Nat. Rev. Neurosci.
, vol.16
, pp. 647-659
-
-
Homem, C.C.F.1
Repic, M.2
Knoblich, J.A.3
-
16
-
-
84944356467
-
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
-
Ji, J., Lee, H., Argiropoulos, B., Dorrani, N., Mann, J., Martinez-Agosto, J.A., Gomez-Ospina, N., Gallant, N., Bernstein, J.A., Hudgins, L., et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. Eur. J. Hum. Genet. 23 (2015), 1473–1481.
-
(2015)
Eur. J. Hum. Genet.
, vol.23
, pp. 1473-1481
-
-
Ji, J.1
Lee, H.2
Argiropoulos, B.3
Dorrani, N.4
Mann, J.5
Martinez-Agosto, J.A.6
Gomez-Ospina, N.7
Gallant, N.8
Bernstein, J.A.9
Hudgins, L.10
-
17
-
-
79960812993
-
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
-
Kearney, H.M., Thorland, E.C., Brown, K.K., Quintero-Rivera, F., South, S.T., Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet. Med. 13 (2011), 680–685.
-
(2011)
Genet. Med.
, vol.13
, pp. 680-685
-
-
Kearney, H.M.1
Thorland, E.C.2
Brown, K.K.3
Quintero-Rivera, F.4
South, S.T.5
-
18
-
-
3142751435
-
The major vault protein is a novel substrate for the tyrosine phosphatase SHP-2 and scaffold protein in epidermal growth factor signaling
-
Kolli, S., Zito, C.I., Mossink, M.H., Wiemer, E.A.C., Bennett, A.M., The major vault protein is a novel substrate for the tyrosine phosphatase SHP-2 and scaffold protein in epidermal growth factor signaling. J. Biol. Chem. 279 (2004), 29374–29385.
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 29374-29385
-
-
Kolli, S.1
Zito, C.I.2
Mossink, M.H.3
Wiemer, E.A.C.4
Bennett, A.M.5
-
19
-
-
30544442753
-
Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways
-
Kumar, V., Zhang, M.-X., Swank, M.W., Kunz, J., Wu, G.-Y., Regulation of dendritic morphogenesis by Ras-PI3K-Akt-mTOR and Ras-MAPK signaling pathways. J. Neurosci. 25 (2005), 11288–11299.
-
(2005)
J. Neurosci.
, vol.25
, pp. 11288-11299
-
-
Kumar, V.1
Zhang, M.-X.2
Swank, M.W.3
Kunz, J.4
Wu, G.-Y.5
-
20
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar, R.A., KaraMohamed, S., Sudi, J., Conrad, D.F., Brune, C., Badner, J.A., Gilliam, T.C., Nowak, N.J., Cook, E.H. Jr., Dobyns, W.B., Christian, S.L., Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet. 17 (2008), 628–638.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
KaraMohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook, E.H.9
Dobyns, W.B.10
Christian, S.L.11
-
21
-
-
0035734381
-
Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease
-
Kwon, C.H., Zhu, X., Zhang, J., Knoop, L.L., Tharp, R., Smeyne, R.J., Eberhart, C.G., Burger, P.C., Baker, S.J., Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat. Genet. 29 (2001), 404–411.
-
(2001)
Nat. Genet.
, vol.29
, pp. 404-411
-
-
Kwon, C.H.1
Zhu, X.2
Zhang, J.3
Knoop, L.L.4
Tharp, R.5
Smeyne, R.J.6
Eberhart, C.G.7
Burger, P.C.8
Baker, S.J.9
-
22
-
-
84863988574
-
Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders
-
Luo, R., Sanders, S.J., Tian, Y., Voineagu, I., Huang, N., Chu, S.H., Klei, L., Cai, C., Ou, J., Lowe, J.K., et al. Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am. J. Hum. Genet. 91 (2012), 38–55.
-
(2012)
Am. J. Hum. Genet.
, vol.91
, pp. 38-55
-
-
Luo, R.1
Sanders, S.J.2
Tian, Y.3
Voineagu, I.4
Huang, N.5
Chu, S.H.6
Klei, L.7
Cai, C.8
Ou, J.9
Lowe, J.K.10
-
23
-
-
84858434210
-
CNVs: harbingers of a rare variant revolution in psychiatric genetics
-
Malhotra, D., Sebat, J., CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 148 (2012), 1223–1241.
-
(2012)
Cell
, vol.148
, pp. 1223-1241
-
-
Malhotra, D.1
Sebat, J.2
-
24
-
-
84889876122
-
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation
-
Matsumoto, Y., Hayashi, Y., Schlieve, C.R., Ikeya, M., Kim, H., Nguyen, T.D., Sami, S., Baba, S., Barruet, E., Nasu, A., et al. Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formation. Orphanet J. Rare Dis., 8, 2013, 190.
-
(2013)
Orphanet J. Rare Dis.
, vol.8
, pp. 190
-
-
Matsumoto, Y.1
Hayashi, Y.2
Schlieve, C.R.3
Ikeya, M.4
Kim, H.5
Nguyen, T.D.6
Sami, S.7
Baba, S.8
Barruet, E.9
Nasu, A.10
-
25
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy, S.E., Makarov, V., Kirov, G., Addington, A.M., McClellan, J., Yoon, S., Perkins, D.O., Dickel, D.E., Kusenda, M., Krastoshevsky, O., et al., Wellcome Trust Case Control Consortium. Microduplications of 16p11.2 are associated with schizophrenia. Nat. Genet. 41 (2009), 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
-
26
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
Mefford, H.C., Sharp, A.J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V.K., Crolla, J.A., Baralle, D., et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359 (2008), 1685–1699.
-
(2008)
N. Engl. J. Med.
, vol.359
, pp. 1685-1699
-
-
Mefford, H.C.1
Sharp, A.J.2
Baker, C.3
Itsara, A.4
Jiang, Z.5
Buysse, K.6
Huang, S.7
Maloney, V.K.8
Crolla, J.A.9
Baralle, D.10
-
27
-
-
84929997450
-
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
-
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E.C., Harewood, L., Kosmicki, J.A., Loviglio, M.N., Giannuzzi, G., Hippolyte, L., et al., 16p11.2 European Consortium. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am. J. Hum. Genet. 96 (2015), 784–796.
-
(2015)
Am. J. Hum. Genet.
, vol.96
, pp. 784-796
-
-
Migliavacca, E.1
Golzio, C.2
Männik, K.3
Blumenthal, I.4
Oh, E.C.5
Harewood, L.6
Kosmicki, J.A.7
Loviglio, M.N.8
Giannuzzi, G.9
Hippolyte, L.10
-
28
-
-
84962586801
-
Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication
-
Milone, R., Valetto, A., Battini, R., Bertini, V., Valvo, G., Cioni, G., Sicca, F., Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplication. Eur. J. Med. Genet. 59 (2016), 278–282.
-
(2016)
Eur. J. Med. Genet.
, vol.59
, pp. 278-282
-
-
Milone, R.1
Valetto, A.2
Battini, R.3
Bertini, V.4
Valvo, G.5
Cioni, G.6
Sicca, F.7
-
29
-
-
79955634826
-
A more efficient method to generate integration-free human iPS cells
-
Okita, K., Matsumura, Y., Sato, Y., Okada, A., Morizane, A., Okamoto, S., Hong, H., Nakagawa, M., Tanabe, K., Tezuka, K., et al. A more efficient method to generate integration-free human iPS cells. Nat. Methods 8 (2011), 409–412.
-
(2011)
Nat. Methods
, vol.8
, pp. 409-412
-
-
Okita, K.1
Matsumura, Y.2
Sato, Y.3
Okada, A.4
Morizane, A.5
Okamoto, S.6
Hong, H.7
Nakagawa, M.8
Tanabe, K.9
Tezuka, K.10
-
30
-
-
84923040471
-
The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway
-
Pucilowska, J., Vithayathil, J., Tavares, E.J., Kelly, C., Karlo, J.C., Landreth, G.E., The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway. J. Neurosci. 35 (2015), 3190–3200.
-
(2015)
J. Neurosci.
, vol.35
, pp. 3190-3200
-
-
Pucilowska, J.1
Vithayathil, J.2
Tavares, E.J.3
Kelly, C.4
Karlo, J.C.5
Landreth, G.E.6
-
31
-
-
84906227840
-
Opposing brain differences in 16p11.2 deletion and duplication carriers
-
Qureshi, A.Y., Mueller, S., Snyder, A.Z., Mukherjee, P., Berman, J.I., Roberts, T.P.L., Nagarajan, S.S., Spiro, J.E., Chung, W.K., Sherr, E.H., Buckner, R.L., Simons VIP Consortium. Opposing brain differences in 16p11.2 deletion and duplication carriers. J. Neurosci. 34 (2014), 11199–11211.
-
(2014)
J. Neurosci.
, vol.34
, pp. 11199-11211
-
-
Qureshi, A.Y.1
Mueller, S.2
Snyder, A.Z.3
Mukherjee, P.4
Berman, J.I.5
Roberts, T.P.L.6
Nagarajan, S.S.7
Spiro, J.E.8
Chung, W.K.9
Sherr, E.H.10
Buckner, R.L.11
-
33
-
-
84953713062
-
Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome
-
Rooney, G.E., Goodwin, A.F., Depeille, P., Sharir, A., Schofield, C.M., Yeh, E., Roose, J.P., Klein, O.D., Rauen, K.A., Weiss, L.A., Ullian, E.M., Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. J. Neurosci. 36 (2016), 142–152.
-
(2016)
J. Neurosci.
, vol.36
, pp. 142-152
-
-
Rooney, G.E.1
Goodwin, A.F.2
Depeille, P.3
Sharir, A.4
Schofield, C.M.5
Yeh, E.6
Roose, J.P.7
Klein, O.D.8
Rauen, K.A.9
Weiss, L.A.10
Ullian, E.M.11
-
34
-
-
78649634946
-
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
-
Rosenfeld, J.A., Ballif, B.C., Torchia, B.S., Sahoo, T., Ravnan, J.B., Schultz, R., Lamb, A., Bejjani, B.A., Shaffer, L.G., Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. Genet. Med. 12 (2010), 694–702.
-
(2010)
Genet. Med.
, vol.12
, pp. 694-702
-
-
Rosenfeld, J.A.1
Ballif, B.C.2
Torchia, B.S.3
Sahoo, T.4
Ravnan, J.B.5
Schultz, R.6
Lamb, A.7
Bejjani, B.A.8
Shaffer, L.G.9
-
35
-
-
84981186137
-
Induced pluripotent stem cells for modeling neurological disorders
-
Russo, F.B., Cugola, F.R., Fernandes, I.R., Pignatari, G.C., Beltrão-Braga, P.C.B., Induced pluripotent stem cells for modeling neurological disorders. World J. Transplant. 5 (2015), 209–221.
-
(2015)
World J. Transplant.
, vol.5
, pp. 209-221
-
-
Russo, F.B.1
Cugola, F.R.2
Fernandes, I.R.3
Pignatari, G.C.4
Beltrão-Braga, P.C.B.5
-
36
-
-
77953704493
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
-
Shinawi, M., Liu, P., Kang, S.-H.L., Shen, J., Belmont, J.W., Scott, D.A., Probst, F.J., Craigen, W.J., Graham, B.H., Pursley, A., et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J. Med. Genet. 47 (2010), 332–341.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 332-341
-
-
Shinawi, M.1
Liu, P.2
Kang, S.-H.L.3
Shen, J.4
Belmont, J.W.5
Scott, D.A.6
Probst, F.J.7
Craigen, W.J.8
Graham, B.H.9
Pursley, A.10
-
37
-
-
84858673064
-
Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders
-
Simons Vip Consortium. Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. Neuron 73 (2012), 1063–1067.
-
(2012)
Neuron
, vol.73
, pp. 1063-1067
-
-
-
38
-
-
84987723499
-
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort
-
Steinman, K.J., Spence, S.J., Ramocki, M.B., Proud, M.B., Kessler, S.K., Marco, E.J., Green Snyder, L., D'Angelo, D., Chen, Q., Chung, W.K., et al. 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. Am. J. Med. Genet. 170 (2016), 2943–2955.
-
(2016)
Am. J. Med. Genet.
, vol.170
, pp. 2943-2955
-
-
Steinman, K.J.1
Spence, S.J.2
Ramocki, M.B.3
Proud, M.B.4
Kessler, S.K.5
Marco, E.J.6
Green Snyder, L.7
D'Angelo, D.8
Chen, Q.9
Chung, W.K.10
-
39
-
-
84959154058
-
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
-
Tai, D.J.C., Ragavendran, A., Manavalan, P., Stortchevoi, A., Seabra, C.M., Erdin, S., Collins, R.L., Blumenthal, I., Chen, X., Shen, Y., et al. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat. Neurosci. 19 (2016), 517–522.
-
(2016)
Nat. Neurosci.
, vol.19
, pp. 517-522
-
-
Tai, D.J.C.1
Ragavendran, A.2
Manavalan, P.3
Stortchevoi, A.4
Seabra, C.M.5
Erdin, S.6
Collins, R.L.7
Blumenthal, I.8
Chen, X.9
Shen, Y.10
-
40
-
-
0742323527
-
Homeostatic plasticity in the developing nervous system
-
Turrigiano, G.G., Nelson, S.B., Homeostatic plasticity in the developing nervous system. Nat. Rev. Neurosci. 5 (2004), 97–107.
-
(2004)
Nat. Rev. Neurosci.
, vol.5
, pp. 97-107
-
-
Turrigiano, G.G.1
Nelson, S.B.2
-
41
-
-
62149104335
-
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly
-
Varga, E.A., Pastore, M., Prior, T., Herman, G.E., McBride, K.L., The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet. Med. 11 (2009), 111–117.
-
(2009)
Genet. Med.
, vol.11
, pp. 111-117
-
-
Varga, E.A.1
Pastore, M.2
Prior, T.3
Herman, G.E.4
McBride, K.L.5
-
42
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss, L.A., Shen, Y., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M.A., Green, T., et al., Autism Consortium. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 358 (2008), 667–675.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.9
Green, T.10
-
43
-
-
84921522339
-
Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive
-
Williams, M.R., DeSpenza, T. Jr., Li, M., Gulledge, A.T., Luikart, B.W., Hyperactivity of newborn Pten knock-out neurons results from increased excitatory synaptic drive. J. Neurosci. 35 (2015), 943–959.
-
(2015)
J. Neurosci.
, vol.35
, pp. 943-959
-
-
Williams, M.R.1
DeSpenza, T.2
Li, M.3
Gulledge, A.T.4
Luikart, B.W.5
-
44
-
-
85008477758
-
TAOK2 Kinase Mediates PSD95 Stability and Dendritic Spine Maturation through Septin7 Phosphorylation
-
Yadav, S., Oses-Prieto, J.A., Peters, C.J., Zhou, J., Pleasure, S.J., Burlingame, A.L., Jan, L.Y., Jan, Y.-N., TAOK2 Kinase Mediates PSD95 Stability and Dendritic Spine Maturation through Septin7 Phosphorylation. Neuron 93 (2017), 379–393.
-
(2017)
Neuron
, vol.93
, pp. 379-393
-
-
Yadav, S.1
Oses-Prieto, J.A.2
Peters, C.J.3
Zhou, J.4
Pleasure, S.J.5
Burlingame, A.L.6
Jan, L.Y.7
Jan, Y.-N.8
-
45
-
-
0037174815
-
PTEN associates with the vault particles in HeLa cells
-
Yu, Z., Fotouhi-Ardakani, N., Wu, L., Maoui, M., Wang, S., Banville, D., Shen, S.-H., PTEN associates with the vault particles in HeLa cells. J. Biol. Chem. 277 (2002), 40247–40252.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 40247-40252
-
-
Yu, Z.1
Fotouhi-Ardakani, N.2
Wu, L.3
Maoui, M.4
Wang, S.5
Banville, D.6
Shen, S.-H.7
-
46
-
-
0035200623
-
In vitro differentiation of transplantable neural precursors from human embryonic stem cells
-
Zhang, S.-C., Wernig, M., Duncan, I.D., Brüstle, O., Thomson, J.A., In vitro differentiation of transplantable neural precursors from human embryonic stem cells. Nat. Biotechnol. 19 (2001), 1129–1133.
-
(2001)
Nat. Biotechnol.
, vol.19
, pp. 1129-1133
-
-
Zhang, S.-C.1
Wernig, M.2
Duncan, I.D.3
Brüstle, O.4
Thomson, J.A.5
-
47
-
-
60849109211
-
Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice
-
Zhou, J., Blundell, J., Ogawa, S., Kwon, C.-H., Zhang, W., Sinton, C., Powell, C.M., Parada, L.F., Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. J. Neurosci. 29 (2009), 1773–1783.
-
(2009)
J. Neurosci.
, vol.29
, pp. 1773-1783
-
-
Zhou, J.1
Blundell, J.2
Ogawa, S.3
Kwon, C.-H.4
Zhang, W.5
Sinton, C.6
Powell, C.M.7
Parada, L.F.8
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