-
1
-
-
84867829870
-
Individual common variants exert weak effects on the risk for autism spectrum disorderspi
-
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, Baird G, et al. (2012). Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet 21: 4781-4792.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4781-4792
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Almeida, J.4
Bacchelli, E.5
Baird, G.6
-
2
-
-
84870469320
-
-
American Psychiatric Association 4th ed. Washington, DC: American Psychiatric Association
-
American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders - text revision, (4th ed. Washington, DC: American Psychiatric Association.
-
(2000)
Diagnostic and Statistical Manual of Mental Disorders - Text Revision
-
-
-
3
-
-
39649095637
-
The duality of epidermal growth factor receptor (EGFR) signaling and neural stem cell phenotype: Cell enhancer or cell transformer?
-
Ayuso-Sacido A, Graham C, Greenfield JP, Boockvar JA (2006). The duality of epidermal growth factor receptor (EGFR) signaling and neural stem cell phenotype: Cell enhancer or cell transformer? Curr Stem Cell Res Ther 1: 387-394.
-
(2006)
Curr Stem Cell Res Ther
, vol.1
, pp. 387-394
-
-
Ayuso-Sacido, A.1
Graham, C.2
Greenfield, J.P.3
Boockvar, J.A.4
-
4
-
-
84870882024
-
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome
-
Basel-Vanagaite L, Dallapiccola B, Ramirez-Solis R, Segref A, Thiele H, Edwards A, et al. (2012). Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet 91: 998-1010.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 998-1010
-
-
Basel-Vanagaite, L.1
Dallapiccola, B.2
Ramirez-Solis, R.3
Segref, A.4
Thiele, H.5
Edwards, A.6
-
5
-
-
84860564877
-
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
-
Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, et al., ARRA Autism Sequencing Collaboration (2012). Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet 8: E1002635.
-
(2012)
PLoS Genet
, vol.8
, pp. e1002635
-
-
Chahrour, M.H.1
Yu, T.W.2
Lim, E.T.3
Ataman, B.4
Coulter, M.E.5
Hill, R.S.6
-
6
-
-
77950641716
-
Lowcomplexity regions within protein sequences have position-dependent roles
-
Coletta A, Pinney JW, Solís DY, Marsh J, Pettifer SR, Attwood TK (2010). Lowcomplexity regions within protein sequences have position-dependent roles. BMC Syst Biol 4: 43.
-
(2010)
BMC Syst Biol
, vol.4
, pp. 43
-
-
Coletta, A.1
Pinney, J.W.2
Solís, D.Y.3
Marsh, J.4
Pettifer, S.R.5
Attwood, T.K.6
-
7
-
-
78349291914
-
Sibling recurrence and the genetic epidemiology of autism
-
Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P (2010). Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 167: 1349-1356.
-
(2010)
Am J Psychiatry
, vol.167
, pp. 1349-1356
-
-
Constantino, J.N.1
Zhang, Y.2
Frazier, T.3
Abbacchi, A.M.4
Law, P.5
-
8
-
-
34547533520
-
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
-
Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, et al., Childhood Overgrowth Collaboration (2007). Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet 39: 963-965.
-
(2007)
Nat Genet
, vol.39
, pp. 963-965
-
-
Douglas, J.1
Cilliers, D.2
Coleman, K.3
Tatton-Brown, K.4
Barker, K.5
Bernhard, B.6
-
9
-
-
44949118621
-
Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile
-
Ducray F, Idbaih A, de Reyniès A, Bièche I, Thillet J, Mokhtari K, et al. (2008). Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile. Mol Cancer 7: 41.
-
(2008)
Mol Cancer
, vol.7
, pp. 41
-
-
Ducray, F.1
Idbaih, A.2
De Reyniès, A.3
Bièche, I.4
Thillet, J.5
Mokhtari, K.6
-
10
-
-
67049118065
-
Epidemiology of pervasive developmental disorders
-
Fombonne E (2009). Epidemiology of pervasive developmental disorders. Pediatr Res 65: 591-598.
-
(2009)
Pediatr Res
, vol.65
, pp. 591-598
-
-
Fombonne, E.1
-
11
-
-
40749130484
-
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
-
Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, et al. (2008). Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet 82: 432-443.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 432-443
-
-
Froyen, G.1
Corbett, M.2
Vandewalle, J.3
Jarvela, I.4
Lawrence, O.5
Meldrum, C.6
-
12
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE,Wood S, et al. (2009). Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573.
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
-
13
-
-
80054993342
-
Spatio-temporal transcriptome of the human brain
-
Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, et al. (2011). Spatio-temporal transcriptome of the human brain. Nature 478: 483-489.
-
(2011)
Nature
, vol.478
, pp. 483-489
-
-
Kang, H.J.1
Kawasawa, Y.I.2
Cheng, F.3
Zhu, Y.4
Xu, X.5
Li, M.6
-
14
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15: 70-73.
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
15
-
-
84874097245
-
Macrocephaly as a clinical indicator of genetic subtypes in autism
-
Klein S, Sharifi-Hannauer P, Martinez-Agosto JA (2013). Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res 6: 51-56.
-
(2013)
Autism Res
, vol.6
, pp. 51-56
-
-
Klein, S.1
Sharifi-Hannauer, P.2
Martinez-Agosto, J.A.3
-
16
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, et al. (1997). De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15: 74-77.
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.J.4
Jiang, Y.H.5
Benton, C.S.6
-
17
-
-
0033573317
-
Association study of the NF1 gene and autistic disorder
-
Mbarek O, Marouillat S, Martineau J, Barthélémy C, Müh JP, Andres C (1999). Association study of the NF1 gene and autistic disorder. Am J Med Genet 88: 729-732.
-
(1999)
Am J Med Genet
, vol.88
, pp. 729-732
-
-
Mbarek, O.1
Marouillat, S.2
Martineau, J.3
Barthélémy, C.4
Müh, J.P.5
Andres, C.6
-
18
-
-
24144452995
-
Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates
-
McCauley JL, Li C, Jiang L, Olson LM, Crockett G, Gainer K, et al. (2005). Genome-wide and ordered-subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates. BMC Med Genet 6: 1.
-
(2005)
BMC Med Genet
, vol.6
, pp. 1
-
-
McCauley, J.L.1
Li, C.2
Jiang, L.3
Olson, L.M.4
Crockett, G.5
Gainer, K.6
-
19
-
-
84921491655
-
RIG-I knockdown impedes neurogenesis in a murine model of Japanese encephalitis
-
Mukherjee S, Ghosh S, Nazmi A, Basu A (2015). RIG-I knockdown impedes neurogenesis in a murine model of Japanese encephalitis. Cell Biol Int 39: 224-229.
-
(2015)
Cell Biol Int
, vol.39
, pp. 224-229
-
-
Mukherjee, S.1
Ghosh, S.2
Nazmi, A.3
Basu, A.4
-
20
-
-
79959697149
-
RIG-I mediates innate immune response in mouse neurons following Japanese encephalitis virus infection
-
Nazmi A, Dutta K, Basu A (2011). RIG-I mediates innate immune response in mouse neurons following Japanese encephalitis virus infection. PLoS One 6: E21761.
-
(2011)
PLoS One
, vol.6
, pp. e21761
-
-
Nazmi, A.1
Dutta, K.2
Basu, A.3
-
21
-
-
59449091450
-
Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection
-
Oshiumi H, Matsumoto M, Hatakeyama S, Seya T (2009). Riplet/RNF135, a RING finger protein, ubiquitinates RIG-I to promote interferon-beta induction during the early phase of viral infection. J Biol Chem 284: 807-817.
-
(2009)
J Biol Chem
, vol.284
, pp. 807-817
-
-
Oshiumi, H.1
Matsumoto, M.2
Hatakeyama, S.3
Seya, T.4
-
22
-
-
84867426528
-
Cellular and synaptic network defects in autism
-
Peça J, Feng G (2012). Cellular and synaptic network defects in autism. Curr Opin Neurobiol 22: 866-872.
-
(2012)
Curr Opin Neurobiol
, vol.22
, pp. 866-872
-
-
Peça, J.1
Feng, G.2
-
23
-
-
0018854085
-
Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS)
-
Schopler E, Reichler RJ, DeVellis RF, Daly K (1980). Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 10: 91-103.
-
(1980)
J Autism Dev Disord
, vol.10
, pp. 91-103
-
-
Schopler, E.1
Reichler, R.J.2
DeVellis, R.F.3
Daly, K.4
-
24
-
-
8844244724
-
Evidence for sex-specific risk alleles in autism spectrum disorder
-
Stone JL, Merriman B, Cantor RM, Yonan AL, Gilliam TC, Geschwind DH, Nelson SF (2004). Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 75: 1117-1123.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1117-1123
-
-
Stone, J.L.1
Merriman, B.2
Cantor, R.M.3
Yonan, A.L.4
Gilliam, T.C.5
Geschwind, D.H.6
Nelson, S.F.7
-
25
-
-
33846639529
-
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor
-
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, et al. (2007). Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor. Am J Hum Genet 80: 345-352.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 345-352
-
-
Tarpey, P.S.1
Raymond, F.L.2
O'Meara, S.3
Edkins, S.4
Teague, J.5
Butler, A.6
-
26
-
-
84911395758
-
A new overgrowth syndrome is due to mutations in RNF125
-
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, et al., SOGRI Consortium (2014). A new overgrowth syndrome is due to mutations in RNF125. Hum Mutat 35: 1436-1441.
-
(2014)
Hum Mutat
, vol.35
, pp. 1436-1441
-
-
Tenorio, J.1
Mansilla, A.2
Valencia, M.3
Martínez-Glez, V.4
Romanelli, V.5
Arias, P.6
-
27
-
-
84871563278
-
Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95
-
Tsai NP, Wilkerson JR, Guo W, Maksimova MA, DeMartino GN, Cowan CW, Huber KM (2012). Multiple autism-linked genes mediate synapse elimination via proteasomal degradation of a synaptic scaffold PSD-95. Cell 151: 1581-1594.
-
(2012)
Cell
, vol.151
, pp. 1581-1594
-
-
Tsai, N.P.1
Wilkerson, J.R.2
Guo, W.3
Maksimova, M.A.4
DeMartino, G.N.5
Cowan, C.W.6
Huber, K.M.7
-
28
-
-
29244477844
-
A human protein atlas for normal and cancer tissues based on antibody proteomics
-
Uhlén M, Björling E, Agaton C, Szigyarto CA, Amini B, Andersen E, et al. (2005). A human protein atlas for normal and cancer tissues based on antibody proteomics. Mol Cell Proteomics 4: 1920-1932.
-
(2005)
Mol Cell Proteomics
, vol.4
, pp. 1920-1932
-
-
Uhlén, M.1
Björling, E.2
Agaton, C.3
Szigyarto, C.A.4
Amini, B.5
Andersen, E.6
-
29
-
-
63749125981
-
RNF135 mutations are not present in patients with Sotos syndromelike features
-
Visser R, Koelma N, Vijfhuizen L, van der Wielen MJ, Kant SG, Breuning MH, et al. (2009). RNF135 mutations are not present in patients with Sotos syndromelike features. Am J Med Genet A 149A: 806-808.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 806-808
-
-
Visser, R.1
Koelma, N.2
Vijfhuizen, L.3
Van Der Wielen, M.J.4
Kant, S.G.5
Breuning, M.H.6
-
30
-
-
0346961702
-
Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder
-
Vourc'h P, Martin I, Bonnet-Brilhault F, Marouillat S, Barthélémy C, Pierre Müh J, Andres C (2003a). Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder. Psychiatr Genet 13: 221-225.
-
(2003)
Psychiatr Genet
, vol.13
, pp. 221-225
-
-
Vourc'H, P.1
Martin, I.2
Bonnet-Brilhault, F.3
Marouillat, S.4
Barthélémy, C.5
Pierre Müh, J.6
Andres, C.7
-
31
-
-
0037468292
-
Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder
-
Vourc'h P, Martin I, Marouillat S, Adrien JL, Barthélémy C, Moraine C, et al. (2003b). Molecular analysis of the oligodendrocyte myelin glycoprotein gene in autistic disorder. Neurosci Lett 338: 115-118.
-
(2003)
Neurosci Lett
, vol.338
, pp. 115-118
-
-
Vourc'H, P.1
Martin, I.2
Marouillat, S.3
Adrien, J.L.4
Barthélémy, C.5
Moraine, C.6
-
32
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, et al. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533.
-
(2009)
Nature
, vol.459
, pp. 528-533
-
-
Wang, K.1
Zhang, H.2
Ma, D.3
Bucan, M.4
Glessner, J.T.5
Abrahams, B.S.6
-
33
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss LA, Arking DE, Daly MJ, Chakravarti A, Gene Discovery Project of Johns Hopkins the Autism Consortium (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature 461: 802-808.
-
(2009)
Nature
, vol.461
, pp. 802-808
-
-
Weiss, L.A.1
Arking, D.E.2
Daly, M.J.3
Chakravarti, A.4
-
34
-
-
0142059641
-
A genomewide screen of 345 families for autism-susceptibility loci
-
Yonan AL, Alarcón M, Cheng R, Magnusson PK, Spence SJ, Palmer AA, et al. (2003). A genomewide screen of 345 families for autism-susceptibility loci. Am J Hum Genet 73: 886-897.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 886-897
-
-
Yonan, A.L.1
Alarcón, M.2
Cheng, R.3
Magnusson, P.K.4
Spence, S.J.5
Palmer, A.A.6
|