-
1
-
-
0028906338
-
Autism as a strongly genetic disorder-evidence from a British twin study
-
Bailey, A., Lecouteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E. and 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
Lecouteur, A.2
Gottesman, I.3
Bolton, P.4
Simonoff, E.5
Yuzda, E.6
Rutter, M.7
-
2
-
-
0017530988
-
Infantile-autism-genetic study of 21 twin pairs
-
Folstein, S. and Rutter, M. (1977) Infantile-autism-genetic study of 21 twin pairs. J. Child Psychol. Psychiatry, 18, 297-321.
-
(1977)
J. Child Psychol. Psychiatry
, vol.18
, pp. 297-321
-
-
Folstein, S.1
Rutter, M.2
-
3
-
-
0024523493
-
A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden
-
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I.C., Jakobsson, G. and Bohman, M. (1989) A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J. Child Psychol. Psychiatry, 30, 405-416.
-
(1989)
J. Child Psychol. Psychiatry
, vol.30
, 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
-
4
-
-
78349291914
-
Sibling recurrence and the genetic epidemiology of autism
-
Constantino, J.N., Zhang, Y., Frazier, T., Abbacchi, A.M. and 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
-
5
-
-
80051944739
-
Genetic heritability and shared environmental factors among twin pairs with autism
-
Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., Miller, J., Fedele, A., Collins, J., Smith, K. et al. (2011) Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry, 68, 1095-1102.
-
(2011)
Arch. Gen. Psychiatry
, vol.68
, pp. 1095-1102
-
-
Hallmayer, J.1
Cleveland, S.2
Torres, A.3
Phillips, J.4
Cohen, B.5
Torigoe, T.6
Miller, J.7
Fedele, A.8
Collins, J.9
Smith, K.10
-
6
-
-
33749108470
-
The genetic structure of reciprocal social behavior: support for a population based approach to genetic studies of autism
-
Constantino, J.N., Hudziak, J.J. and Todd, R.D. (2000) The genetic structure of reciprocal social behavior: support for a population based approach to genetic studies of autism. Am. J. Med. Genet., 96, 480-480.
-
(2000)
Am. J. Med. Genet.
, vol.96
, pp. 480-480
-
-
Constantino, J.N.1
Hudziak, J.J.2
Todd, R.D.3
-
7
-
-
2342438725
-
The factor structure of autistic traits
-
Constantino, J.N., Gruber, C.P., Davis, S., Hayes, S., Passanante, N. and Przybeck, T. (2004) The factor structure of autistic traits. J. Child Psychol. Psychiatry, 45, 719-726.
-
(2004)
J. Child Psychol. Psychiatry
, vol.45
, pp. 719-726
-
-
Constantino, J.N.1
Gruber, C.P.2
Davis, S.3
Hayes, S.4
Passanante, N.5
Przybeck, T.6
-
8
-
-
0029959476
-
A broader phenotype of autism: the clinical spectrum in twins
-
LeCouteur, A., Bailey, A., Goode, S., Pickles, A., Robertson, S., Gottesman, I. and Rutter, M. (1996) A broader phenotype of autism: the clinical spectrum in twins. J. Child Psychol. Psychiatry, 37, 785-801.
-
(1996)
J. Child Psychol. Psychiatry
, vol.37
, pp. 785-801
-
-
LeCouteur, A.1
Bailey, A.2
Goode, S.3
Pickles, A.4
Robertson, S.5
Gottesman, I.6
Rutter, M.7
-
9
-
-
3442894480
-
The genetics of autism
-
Muhle, R., Trentacoste, S.V. and Rapin, I. (2004) The genetics of autism. Pediatrics, 113, E472-E486.
-
(2004)
Pediatrics
, vol.113
-
-
Muhle, R.1
Trentacoste, S.V.2
Rapin, I.3
-
10
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J. et al. (2007) Strong association of de novo copy number mutations with autism. Science, 316, 445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Yamrom, B.7
Yoon, S.8
Krasnitz, A.9
Kendall, J.10
-
11
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy, D., Ronennus, M., Yamrom, B., Lee, Y.H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K. et al. (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
Ronennus, 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
-
12
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region. are strongly associated with autism
-
Sanders, S.J., Ercan-Sencicek, A.G., Hus, V., Luo, R., Murtha, M.T., Moreno-De-Luca, D., Chu, S.H., Moreau, M.P., Gupta, A.R., Thomson, S.A. et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70, 863-885.
-
(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
-
13
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y. et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet., 82, 477-488.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
Skaug, J.6
Shago, M.7
Moessner, R.8
Pinto, D.9
Ren, Y.10
-
14
-
-
67651233780
-
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
-
Bucan, M., Abrahams, B.S., Wang, K., Glessner, J.T., Herman, E.I., Sonnenblick, L.I., Retuerto, A.I.A., Imielinski, M., Hadley, D., Bradfield, J.P. et al. (2009) Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet., 5, 12.
-
(2009)
PLoS Genet.
, vol.5
, pp. 12
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
Glessner, J.T.4
Herman, E.I.5
Sonnenblick, L.I.6
Retuerto, A.I.A.7
Imielinski, M.8
Hadley, D.9
Bradfield, J.P.10
-
15
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari, P., Paterson, A.D., Zwaigenbaum, L., Roberts, W., Brian, J., Liu, X.Q., Vincent, J.B., Skaug, J.L., Thompson, A.P., Senman, L. et al. (2007) Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet., 39, 319-328.
-
(2007)
Nat. Genet.
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
Brian, J.5
Liu, X.Q.6
Vincent, J.B.7
Skaug, J.L.8
Thompson, A.P.9
Senman, L.10
-
16
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss, L.A., Shen, Y.P., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M.A.R., Green, T. et al. (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med., 358, 667-675.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.P.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.R.9
Green, T.10
-
17
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss, L.A., Arking, D.E., Daly, M.J. and Chakravarti, A. (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
-
18
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner, J.T., Wang, K., Cai, G.Q., Korvatska, O., Kim, C.E., Wood, S., Zhang, H.T., Estes, A., Brune, C.W., Bradfield, J.P. 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.Q.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.T.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
-
19
-
-
77956433456
-
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility
-
Maestrini, E., Pagnamenta, A.T., Lamb, J.A., Bacchelli, E., Sykes, N.H., Sousa, I., Toma, C., Barnby, G., Butler, H., Winchester, L. et al. (2010) High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Mol. Psychiatry, 15, 954-968.
-
(2010)
Mol. Psychiatry
, vol.15
, pp. 954-968
-
-
Maestrini, E.1
Pagnamenta, A.T.2
Lamb, J.A.3
Bacchelli, E.4
Sykes, N.H.5
Sousa, I.6
Toma, C.7
Barnby, G.8
Butler, H.9
Winchester, L.10
-
20
-
-
77957735529
-
A genome-wide scan for common alleles affecting risk for autism
-
Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T.R., Correia, C., Abrahams, B.S., Sykes, N., Pagnamenta, A.T. et al. (2010) A genome-wide scan for common alleles affecting risk for autism. Hum. Mol. Genet., 19, 4072-4082.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4072-4082
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Regan, R.4
Conroy, J.5
Magalhaes, T.R.6
Correia, C.7
Abrahams, B.S.8
Sykes, N.9
Pagnamenta, A.T.10
-
21
-
-
65449184161
-
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1
-
Ma, D.Q., Salyakina, D., Jaworski, J.M., Konidari, I., Whitehead, P.L., Andersen, A.N., Hoffman, J.D., Slifer, S.H., Hedges, D.J., Cukier, H.N. et al. (2009) A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann. Hum. Genet., 73, 263-273.
-
(2009)
Ann. Hum. Genet.
, vol.73
, pp. 263-273
-
-
Ma, D.Q.1
Salyakina, D.2
Jaworski, J.M.3
Konidari, I.4
Whitehead, P.L.5
Andersen, A.N.6
Hoffman, J.D.7
Slifer, S.H.8
Hedges, D.J.9
Cukier, H.N.10
-
22
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang, K., Zhang, H.T., Ma, D.Q., Bucan, M., Glessner, J.T., Abrahams, B.S., Salyakina, D., Imielinski, M., Bradfield, J.P., Sleiman, P.M.A. 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.T.2
Ma, D.Q.3
Bucan, M.4
Glessner, J.T.5
Abrahams, B.S.6
Salyakina, D.7
Imielinski, M.8
Bradfield, J.P.9
Sleiman, P.M.A.10
-
23
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto, D., Pagnamenta, A.T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T.R., Correia, C., Abrahams, B.S. et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
Regan, R.6
Conroy, J.7
Magalhaes, T.R.8
Correia, C.9
Abrahams, B.S.10
-
24
-
-
33646823604
-
Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome
-
Collins, M.O., Husi, H., Yu, L., Brandon, J.M., Anderson, C.N.G., Blackstock, W.P., Choudhary, J.S. and Grant, S.G.N. (2006) Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome. J. Neurochem., 97, 16-23.
-
(2006)
J. Neurochem.
, vol.97
, pp. 16-23
-
-
Collins, M.O.1
Husi, H.2
Yu, L.3
Brandon, J.M.4
Anderson, C.N.G.5
Blackstock, W.P.6
Choudhary, J.S.7
Grant, S.G.N.8
-
25
-
-
0029938472
-
A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis
-
Adams, R.H., Betz, H. and Puschel, A.W. (1996) A novel class of murine semaphorins with homology to thrombospondin is differentially expressed during early embryogenesis. Mech. Dev., 57, 33-45.
-
(1996)
Mech. Dev.
, vol.57
, pp. 33-45
-
-
Adams, R.H.1
Betz, H.2
Puschel, A.W.3
-
26
-
-
33750687891
-
Constitutional downregulation of SEMA5A expression in autism
-
Melin, M., Carlsson, B., Anckarsater, H., Rastam, M., Betancur, C., Isaksson, A., Gillberg, C. and Dahl, N. (2006) Constitutional downregulation of SEMA5A expression in autism. Neuropsychobiology, 54, 64-69.
-
(2006)
Neuropsychobiology
, vol.54
, pp. 64-69
-
-
Melin, M.1
Carlsson, B.2
Anckarsater, H.3
Rastam, M.4
Betancur, C.5
Isaksson, A.6
Gillberg, C.7
Dahl, N.8
-
27
-
-
75249089572
-
SCAN: SNP and copy number annotation
-
Gamazon, E.R., Zhang, W., Konkashbaev, A., Duan, S.W., Kistner, E.O., Nicolae, D.L., Dolan, M.E. and Cox, N.J. (2010) SCAN: SNP and copy number annotation. Bioinformatics, 26, 259-262.
-
(2010)
Bioinformatics
, vol.26
, pp. 259-262
-
-
Gamazon, E.R.1
Zhang, W.2
Konkashbaev, A.3
Duan, S.W.4
Kistner, E.O.5
Nicolae, D.L.6
Dolan, M.E.7
Cox, N.J.8
-
28
-
-
34548292504
-
PLINK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A.R., Bender, D., Maller, J., Sklar, P., de Bakker, P.I.W., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.W.9
Daly, M.J.10
-
29
-
-
77950461601
-
Origins and functional impact of copy number variation in the human genome
-
Conrad, D.F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y.J., Aerts, J., Andrews, T.D., Barnes, C., Campbell, P. et al. (2010) Origins and functional impact of copy number variation in the human genome. Nature, 464, 704-712.
-
(2010)
Nature
, vol.464
, pp. 704-712
-
-
Conrad, D.F.1
Pinto, D.2
Redon, R.3
Feuk, L.4
Gokcumen, O.5
Zhang, Y.J.6
Aerts, J.7
Andrews, T.D.8
Barnes, C.9
Campbell, P.10
-
30
-
-
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., Bolshakova, N., Bolte, S., Bolton, P.F., Bourgeron, T. 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
Bolshakova, N.7
Bolte, S.8
Bolton, P.F.9
Bourgeron, T.10
-
31
-
-
84871298155
-
Common genetic variants, acting additively, are a major source of risk for autism
-
Klei, L., Sanders, S.J., Murtha, M.T., Hus, V., Lowe, J.K., Willsey, A.J., Moreno-De-Luca, D., Yu, T.W., Fombonne, E., Geschwind, D. et al. (2012) Common genetic variants, acting additively, are a major source of risk for autism. Mol. Autism, 3, 9.
-
(2012)
Mol. Autism
, vol.3
, pp. 9
-
-
Klei, L.1
Sanders, S.J.2
Murtha, M.T.3
Hus, V.4
Lowe, J.K.5
Willsey, A.J.6
Moreno-De-Luca, D.7
Yu, T.W.8
Fombonne, E.9
Geschwind, D.10
-
32
-
-
79952310364
-
Do common variants play a role in risk for autism? Evidence and theoretical musings
-
Devlin, B., Melhem, N. and Roeder, K. (2011) Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res., 1380, 78-84.
-
(2011)
Brain Res.
, vol.1380
, pp. 78-84
-
-
Devlin, B.1
Melhem, N.2
Roeder, K.3
-
33
-
-
84862493260
-
Genetic architecture in autism spectrum disorder
-
Devlin, B. and Scherer, S.W. (2012) Genetic architecture in autism spectrum disorder. Curr. Opin. Genet. Dev., 22, 229-237.
-
(2012)
Curr. Opin. Genet. Dev.
, vol.22
, pp. 229-237
-
-
Devlin, B.1
Scherer, S.W.2
-
34
-
-
63149198301
-
Copy number variants, diseases and gene expression
-
Henrichsen, C.N., Chaignat, E. and Reymond, A. (2009) Copy number variants, diseases and gene expression. Hum. Mol. Genet., 18, R1-R8.
-
(2009)
Hum. Mol. Genet.
, vol.18
-
-
Henrichsen, C.N.1
Chaignat, E.2
Reymond, A.3
-
35
-
-
79956294419
-
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism
-
Nord, A.S., Roeb, W., Dickel, D.E., Walsh, T., Kusenda, M., O'Connor, K.L., Malhotra, D., McCarthy, S.E., Stray, S.M., Taylor, S.M. et al. (2011) Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur. J. Hum. Genet., 19, 727-731.
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 727-731
-
-
Nord, A.S.1
Roeb, W.2
Dickel, D.E.3
Walsh, T.4
Kusenda, M.5
O'Connor, K.L.6
Malhotra, D.7
McCarthy, S.E.8
Stray, S.M.9
Taylor, S.M.10
-
36
-
-
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. (2012) Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. Am. J. Hum. Genet., 91, 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
-
37
-
-
79952269948
-
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci
-
Gamazon, E.R., Nicolae, D.L. and Cox, N.J. (2011) A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. PLoS Genet., 7, e1001292.
-
(2011)
PLoS Genet.
, vol.7
-
-
Gamazon, E.R.1
Nicolae, D.L.2
Cox, N.J.3
-
38
-
-
63449117467
-
Segmental copy number variation shapes tissue transcriptomes
-
Henrichsen, C.N., Vinckenbosch, N., Zollner, S., Chaignat, E., Pradervand, S., Schutz, F., Ruedi, M., Kaessmann, H. and Reymond, A. (2009) 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
-
39
-
-
84867805626
-
Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci
-
Davis, L.K., Gamazon, E.R., Kistner-Griffin, E., Badner, J.A., Liu, C., Cook, E.H., Sutcliffe, J.S. and Cox, N.J. (2012) Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. Mol Autism, 3, 3.
-
(2012)
Mol Autism
, vol.3
, pp. 3
-
-
Davis, L.K.1
Gamazon, E.R.2
Kistner-Griffin, E.3
Badner, J.A.4
Liu, C.5
Cook, E.H.6
Sutcliffe, J.S.7
Cox, N.J.8
-
40
-
-
33746858084
-
Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes
-
Hu, V.W., Frank, B.C., Heine, S., Lee, N.H. and Quackenbush, J. (2006) Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. BMC Genomics, 7, 118.
-
(2006)
BMC Genomics
, vol.7
, pp. 118
-
-
Hu, V.W.1
Frank, B.C.2
Heine, S.3
Lee, N.H.4
Quackenbush, J.5
-
41
-
-
70350664635
-
Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits
-
Jasinska, A.J., Service, S., Choi, O.W., DeYoung, J., Grujic, O., Kong, S.Y., Jorgensen, M.J., Bailey, J., Breidenthal, S., Fairbanks, L.A. et al. (2009) Identification of brain transcriptional variation reproduced in peripheral blood: an approach for mapping brain expression traits. Hum. Mol. Genet., 18, 4415-4427.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 4415-4427
-
-
Jasinska, A.J.1
Service, S.2
Choi, O.W.3
DeYoung, J.4
Grujic, O.5
Kong, S.Y.6
Jorgensen, M.J.7
Bailey, J.8
Breidenthal, S.9
Fairbanks, L.A.10
-
42
-
-
66349087284
-
Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis
-
Hu, V.W., Nguyen, A., Kim, K.S., Steinberg, M.E., Sarachana, T., Scully, M.A., Soldin, S.J., Luu, T. and Lee, N.H. (2009) Gene expression profiling of lymphoblasts from autistic and nonaffected sib pairs: altered pathways in neuronal development and steroid biosynthesis. PLoS ONE, 4, e5775.
-
(2009)
PLoS ONE
, vol.4
-
-
Hu, V.W.1
Nguyen, A.2
Kim, K.S.3
Steinberg, M.E.4
Sarachana, T.5
Scully, M.A.6
Soldin, S.J.7
Luu, T.8
Lee, N.H.9
-
43
-
-
33845906332
-
Utilization of lymphoblastoid cell lines as a system for the molecular modeling of autism
-
Baron, C.A., Liu, S.Y., Hicks, C. and Gregg, J.P. (2006) Utilization of lymphoblastoid cell lines as a system for the molecular modeling of autism. J. Autism Dev. Disord., 36, 973-982.
-
(2006)
J. Autism Dev. Disord.
, vol.36
, pp. 973-982
-
-
Baron, C.A.1
Liu, S.Y.2
Hicks, C.3
Gregg, J.P.4
-
44
-
-
78751689926
-
Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines
-
Sarachana, T., Zhou, R., Chen, G., Manji, H.K. and Hu, V.W. (2010) Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med., 2, 23.
-
(2010)
Genome Med.
, vol.2
, pp. 23
-
-
Sarachana, T.1
Zhou, R.2
Chen, G.3
Manji, H.K.4
Hu, V.W.5
-
45
-
-
34547731978
-
Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
-
Nishimura, Y., Martin, C.L., Vazquez-Lopez, A., Spence, S.J., Alvarez-Retuerto, A.I., Sigman, M., Steindler, C., Pellegrini, S., Schanen, N.C., Warren, S.T. et al. (2007) Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Hum. Mol. Genet., 16, 1682-1698.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 1682-1698
-
-
Nishimura, Y.1
Martin, C.L.2
Vazquez-Lopez, A.3
Spence, S.J.4
Alvarez-Retuerto, A.I.5
Sigman, M.6
Steindler, C.7
Pellegrini, S.8
Schanen, N.C.9
Warren, S.T.10
-
46
-
-
77955803943
-
Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain
-
Nguyen, A., Rauch, T.A., Pfeifer, G.P. and Hu, V.W. (2010) Global methylation profiling of lymphoblastoid cell lines reveals epigenetic contributions to autism spectrum disorders and a novel autism candidate gene, RORA, whose protein product is reduced in autistic brain. FASEB J., 24, 3036-3051.
-
(2010)
FASEB J.
, vol.24
, pp. 3036-3051
-
-
Nguyen, A.1
Rauch, T.A.2
Pfeifer, G.P.3
Hu, V.W.4
-
47
-
-
0036993811
-
Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins
-
Sultana, R., Yu, C.E., Yu, J., Munson, J., Chen, D.H., Hua, W.H., Estes, A., Cortes, F., de la Barra, F., Yu, D.M. et al. (2002) Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins. Genomics, 80, 129-134.
-
(2002)
Genomics
, vol.80
, pp. 129-134
-
-
Sultana, R.1
Yu, C.E.2
Yu, J.3
Munson, J.4
Chen, D.H.5
Hua, W.H.6
Estes, A.7
Cortes, F.8
de la Barra, F.9
Yu, D.M.10
-
48
-
-
77955301410
-
A de novo balanced translocation breakpoint truncating the Autism Susceptibility Candidate 2 (AUTS2) gene in a patient with autism
-
Huang, X.L., Zou, Y.S., Maher, T.A., Newton, S. and Milunsky, J.M. (2010) A de novo balanced translocation breakpoint truncating the Autism Susceptibility Candidate 2 (AUTS2) gene in a patient with autism. Am. J. Med. Genet. A, 152A, 2112-2114.
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 2112-2114
-
-
Huang, X.L.1
Zou, Y.S.2
Maher, T.A.3
Newton, S.4
Milunsky, J.M.5
-
49
-
-
84873732078
-
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
-
Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L.M., Rosenfeld, J.A., Talkowski, M.E., Simonic, I., Lionel, A.C., Vergult, S., Pyatt, R.E. et al. (2013) Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am. J. Hum. Genet, 92, 210-220.
-
(2013)
Am. J. Hum. Genet
, vol.92
, pp. 210-220
-
-
Beunders, G.1
Voorhoeve, E.2
Golzio, C.3
Pardo, L.M.4
Rosenfeld, J.A.5
Talkowski, M.E.6
Simonic, I.7
Lionel, A.C.8
Vergult, S.9
Pyatt, R.E.10
-
50
-
-
84874113937
-
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders
-
Nagamani, S.C., Erez, A., Ben-Zeev, B., Frydman, M., Winter, S., Zeller, R., El-Khechen, D., Escobar, L., Stankiewicz, P., Patel, A. et al. (2012) Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. Eur. J. Hum. Genet, 21, 343-346.
-
(2012)
Eur. J. Hum. Genet
, vol.21
, pp. 343-346
-
-
Nagamani, S.C.1
Erez, A.2
Ben-Zeev, B.3
Frydman, M.4
Winter, S.5
Zeller, R.6
El-Khechen, D.7
Escobar, L.8
Stankiewicz, P.9
Patel, A.10
-
51
-
-
84860347597
-
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
-
Talkowski, M.E., Rosenfeld, J.A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A.M. et al. (2012) Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell, 149, 525-537.
-
(2012)
Cell
, vol.149
, pp. 525-537
-
-
Talkowski, M.E.1
Rosenfeld, J.A.2
Blumenthal, I.3
Pillalamarri, V.4
Chiang, C.5
Heilbut, A.6
Ernst, C.7
Hanscom, C.8
Rossin, E.9
Lindgren, A.M.10
-
52
-
-
34147145963
-
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
-
Kalscheuer, V.M., FitzPatrick, D., Tommerup, N., Bugge, M., Niebuhr, E., Neumann, L.M., Tzschach, A., Shoichet, S.A., Menzel, C., Erdogan, F. et al. (2007) Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum. Genet., 121, 501-509.
-
(2007)
Hum. Genet.
, vol.121
, pp. 501-509
-
-
Kalscheuer, V.M.1
FitzPatrick, D.2
Tommerup, N.3
Bugge, M.4
Niebuhr, E.5
Neumann, L.M.6
Tzschach, A.7
Shoichet, S.A.8
Menzel, C.9
Erdogan, F.10
-
53
-
-
6844251000
-
A full genome screen for autism with evidence for linkage to a region on chromosome 7q
-
IMGSAC
-
IMGSAC (1998) A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium. Hum. Mol. Genet., 7, 571-578.
-
(1998)
International Molecular Genetic Study of Autism Consortium. Hum. Mol. Genet.
, vol.7
, pp. 571-578
-
-
-
54
-
-
0034883367
-
A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p
-
IMGSAC
-
IMGSAC (2001) A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am. J. Hum. Genet., 69, 570-581.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 570-581
-
-
-
55
-
-
0036150925
-
Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7
-
Badner, J.A. and Gershon, E.S. (2002) Regional meta-analysis of published data supports linkage of autism with markers on chromosome 7. Mol. Psychiatry, 7, 56-66.
-
(2002)
Mol. Psychiatry
, vol.7
, pp. 56-66
-
-
Badner, J.A.1
Gershon, E.S.2
-
56
-
-
56049120771
-
Mutations in the gene encoding CADM1 are associated with autism spectrum disorder
-
Zhiling, Y., Fujita, E., Tanabe, Y., Yamagata, T., Momoi, T. and Momoi, M.Y. (2008) Mutations in the gene encoding CADM1 are associated with autism spectrum disorder. Biochem. Biophys. Res. Commun., 377, 926-929.
-
(2008)
Biochem. Biophys. Res. Commun.
, vol.377
, pp. 926-929
-
-
Zhiling, Y.1
Fujita, E.2
Tanabe, Y.3
Yamagata, T.4
Momoi, T.5
Momoi, M.Y.6
-
57
-
-
78249268820
-
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment
-
Hamdan, F.F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.O., Joober, R. et al. (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. Am. J. Hum. Genet., 87, 671-678.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 671-678
-
-
Hamdan, F.F.1
Daoud, H.2
Rochefort, D.3
Piton, A.4
Gauthier, J.5
Langlois, M.6
Foomani, G.7
Dobrzeniecka, S.8
Krebs, M.O.9
Joober, R.10
-
58
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak, B.J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J.J., Girirajan, S., Karakoc, E., Mackenzie, A.P., Ng, S.B., Baker, C. et al. (2011) Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat. Genet., 43, 585-589.
-
(2011)
Nat. Genet.
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
Girirajan, S.6
Karakoc, E.7
Mackenzie, A.P.8
Ng, S.B.9
Baker, C.10
-
59
-
-
84873099158
-
3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism. severe speech delay and deficit of motor coordination
-
Palumbo, O., D'Agruma, L., Minenna, A.F., Palumbo, P., Stallone, R., Palladino, T., Zelante, L. and Carella, M. (2012) 3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination. Gene, 516, 107-113.
-
(2012)
Gene
, vol.516
, pp. 107-113
-
-
Palumbo, O.1
D'Agruma, L.2
Minenna, A.F.3
Palumbo, P.4
Stallone, R.5
Palladino, T.6
Zelante, L.7
Carella, M.8
-
60
-
-
70350153591
-
Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders
-
Ozgen, H.M., van Daalen, E., Bolton, P.F., Maloney, V.K., Huang, S., Cresswell, L., van den Boogaard, M.J., Eleveld, M.J., van't Slot, R., Hochstenbach, R. et al. (2009) Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin. Genet., 76, 348-356.
-
(2009)
Clin. Genet.
, vol.76
, pp. 348-356
-
-
Ozgen, H.M.1
van Daalen, E.2
Bolton, P.F.3
Maloney, V.K.4
Huang, S.5
Cresswell, L.6
van den Boogaard, M.J.7
Eleveld, M.J.8
van't Slot, R.9
Hochstenbach, R.10
-
61
-
-
57749094931
-
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay. autism and learning difficulties
-
Glancy, M., Barnicoat, A., Vijeratnam, R., de Souza, S., Gilmore, J., Huang, S.W., Maloney, V.K., Thomas, N.S., Bunyan, D.J., Jackson, A. et al. (2009) Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties. Eur. J. Hum. Genet., 17, 37-43.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 37-43
-
-
Glancy, M.1
Barnicoat, A.2
Vijeratnam, R.3
de Souza, S.4
Gilmore, J.5
Huang, S.W.6
Maloney, V.K.7
Thomas, N.S.8
Bunyan, D.J.9
Jackson, A.10
-
62
-
-
84858337277
-
Severe intellectual disability and autistic features associated with microduplication 2q23.1
-
Chung, B.H., Mullegama, S., Marshall, C.R., Lionel, A.C., Weksberg, R., Dupuis, L., Brick, L., Li, C., Scherer, S.W., Aradhya, S. et al. (2011) Severe intellectual disability and autistic features associated with microduplication 2q23.1. Eur. J. Hum. Genet., 20, 398-403.
-
(2011)
Eur. J. Hum. Genet.
, vol.20
, pp. 398-403
-
-
Chung, B.H.1
Mullegama, S.2
Marshall, C.R.3
Lionel, A.C.4
Weksberg, R.5
Dupuis, L.6
Brick, L.7
Li, C.8
Scherer, S.W.9
Aradhya, S.10
-
63
-
-
80053931230
-
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability. epilepsy and autism spectrum disorder
-
Talkowski, M.E., Mullegama, S.V., Rosenfeld, J.A., van Bon, B.W., Shen, Y., Repnikova, E.A., Gastier-Foster, J., Thrush, D.L., Kathiresan, S., Ruderfer, D.M. et al. (2011) Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am. J. Hum. Genet., 89, 551-563.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 551-563
-
-
Talkowski, M.E.1
Mullegama, S.V.2
Rosenfeld, J.A.3
van Bon, B.W.4
Shen, Y.5
Repnikova, E.A.6
Gastier-Foster, J.7
Thrush, D.L.8
Kathiresan, S.9
Ruderfer, D.M.10
-
64
-
-
84871420309
-
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1
-
Cukier, H.N., Lee, J.M., Ma, D., Young, J.I., Mayo, V., Butler, B.L., Ramsook, S.S., Rantus, J.A., Abrams, A.J., Whitehead, P.L. et al. (2012) The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism Res., 5, 385-397.
-
(2012)
Autism Res.
, vol.5
, pp. 385-397
-
-
Cukier, H.N.1
Lee, J.M.2
Ma, D.3
Young, J.I.4
Mayo, V.5
Butler, B.L.6
Ramsook, S.S.7
Rantus, J.A.8
Abrams, A.J.9
Whitehead, P.L.10
-
65
-
-
78751705368
-
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
-
Pagnamenta, A.T., Khan, H., Walker, S., Gerrelli, D., Wing, K., Bonaglia, M.C., Giorda, R., Berney, T., Mani, E., Molteni, M. et al. (2011) Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability. J. Med. Genet., 48, 48-54.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 48-54
-
-
Pagnamenta, A.T.1
Khan, H.2
Walker, S.3
Gerrelli, D.4
Wing, K.5
Bonaglia, M.C.6
Giorda, R.7
Berney, T.8
Mani, E.9
Molteni, M.10
-
66
-
-
35148885611
-
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism
-
Martin, C.L., Duvall, J.A., Ilkin, Y., Simon, J.S., Arreaza, M.G., Wilkes, K., Alvarez-Retuerto, A., Whichello, A., Powell, C.M., Rao, K. et al. (2007) Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am. J. Med. Genet. B Neuropsychiatr. Genet., 144B, 869-876.
-
(2007)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.144 B
, 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
-
67
-
-
84862641414
-
Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis
-
Davis, L.K., Maltman, N., Mosconi, M.W., Macmillan, C., Schmitt, L., Moore, K., Francis, S.M., Jacob, S., Sweeney, J.A. and Cook, E.H. (2012) Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Am. J. Med. Genet. A, 158A, 1654-1661.
-
(2012)
Am. J. Med. Genet. A
, vol.158 A
, pp. 1654-1661
-
-
Davis, L.K.1
Maltman, N.2
Mosconi, M.W.3
Macmillan, C.4
Schmitt, L.5
Moore, K.6
Francis, S.M.7
Jacob, S.8
Sweeney, J.A.9
Cook, E.H.10
-
68
-
-
84872722295
-
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
-
Lim, E.T., Raychaudhuri, S., Sanders, S.J., Stevens, C., Sabo, A., Macarthur, D.G., Neale, B.M., Kirby, A., Ruderfer, D.M., Fromer, M. et al. (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
-
69
-
-
16844370707
-
Reelin signaling is impaired in autism
-
Fatemi, S.H., Snow, A.V., Stary, J.M., Araghi-Niknam, M., Reutiman, T.J., Lee, S., Brooks, A.I. and Pearce, D.A. (2005) Reelin signaling is impaired in autism. Biol. Psychiatry, 57, 777-787.
-
(2005)
Biol. Psychiatry
, vol.57
, pp. 777-787
-
-
Fatemi, S.H.1
Snow, A.V.2
Stary, J.M.3
Araghi-Niknam, M.4
Reutiman, T.J.5
Lee, S.6
Brooks, A.I.7
Pearce, D.A.8
-
70
-
-
4444252172
-
Plexin-B3 is a functional receptor for semaphorin 5A
-
Artigiani, S., Conrotto, P., Fazzari, P., Gilestro, G.F., Barberis, D., Giordano, S., Comoglio, P.M. and Tamagnone, L. (2004) Plexin-B3 is a functional receptor for semaphorin 5A. EMBO Rep., 5, 710-714.
-
(2004)
EMBO Rep.
, vol.5
, pp. 710-714
-
-
Artigiani, S.1
Conrotto, P.2
Fazzari, P.3
Gilestro, G.F.4
Barberis, D.5
Giordano, S.6
Comoglio, P.M.7
Tamagnone, L.8
-
71
-
-
79961197278
-
Class 5 transmembrane semaphorins control selective Mammalian retinal lamination and function
-
Matsuoka, R.L., Chivatakarn, O., Badea, T.C., Samuels, I.S., Cahill, H., Katayama, K., Kumar, S.R., Suto, F., Chedotal, A., Peachey, N.S. et al. (2011) Class 5 transmembrane semaphorins control selective Mammalian retinal lamination and function. Neuron, 71, 460-473.
-
(2011)
Neuron
, vol.71
, pp. 460-473
-
-
Matsuoka, R.L.1
Chivatakarn, O.2
Badea, T.C.3
Samuels, I.S.4
Cahill, H.5
Katayama, K.6
Kumar, S.R.7
Suto, F.8
Chedotal, A.9
Peachey, N.S.10
-
72
-
-
10444257969
-
Semaphorin 5A is a bifunctional axon guidance cue regulated by heparan and chondroitin sulfate proteoglycans
-
Kantor, D.B., Chivatakarn, O., Peer, K.L., Oster, S.F., Inatani, M., Hansen, M.J., Flanagan, J.G., Yamaguchi, Y., Sretavan, D.W., Giger, R.J. et al. (2004) Semaphorin 5A is a bifunctional axon guidance cue regulated by heparan and chondroitin sulfate proteoglycans. Neuron, 44, 961-975.
-
(2004)
Neuron
, vol.44
, pp. 961-975
-
-
Kantor, D.B.1
Chivatakarn, O.2
Peer, K.L.3
Oster, S.F.4
Inatani, M.5
Hansen, M.J.6
Flanagan, J.G.7
Yamaguchi, Y.8
Sretavan, D.W.9
Giger, R.J.10
-
73
-
-
73449115295
-
Semaphorin 5A promotes angiogenesis by increasing endothelial cell proliferation, migration, and decreasing apoptosis
-
Sadanandam, A., Rosenbaugh, E.G., Singh, S., Varney, M. and Singh, R.K. (2010) Semaphorin 5A promotes angiogenesis by increasing endothelial cell proliferation, migration, and decreasing apoptosis. Microvasc. Res., 79, 1-9.
-
(2010)
Microvasc. Res.
, vol.79
, pp. 1-9
-
-
Sadanandam, A.1
Rosenbaugh, E.G.2
Singh, S.3
Varney, M.4
Singh, R.K.5
-
74
-
-
14844354796
-
Inactivation of the Sema5a gene results in embryonic lethality and defective remodeling of the cranial vascular system
-
Fiore, R., Rahim, B., Christoffels, V.M., Moorman, A.F. and Puschel, A.W. (2005) Inactivation of the Sema5a gene results in embryonic lethality and defective remodeling of the cranial vascular system. Mol. Cell Biol., 25, 2310-2319.
-
(2005)
Mol. Cell Biol.
, vol.25
, pp. 2310-2319
-
-
Fiore, R.1
Rahim, B.2
Christoffels, V.M.3
Moorman, A.F.4
Puschel, A.W.5
-
75
-
-
79960858895
-
Are Sema5a mutant mice a good model of autism? A behavioral analysis of sensory systems, emotionality and cognition
-
Gunn, R.K., Huentelman, M.J. and Brown, R.E. (2011) Are Sema5a mutant mice a good model of autism? A behavioral analysis of sensory systems, emotionality and cognition. Behav. Brain Res., 225, 142-150.
-
(2011)
Behav. Brain Res.
, vol.225
, pp. 142-150
-
-
Gunn, R.K.1
Huentelman, M.J.2
Brown, R.E.3
-
76
-
-
84856218706
-
Modeling the functional genomics of autism using human neurons
-
Konopka, G., Wexler, E., Rosen, E., Mukamel, Z., Osborn, G.E., Chen, L., Lu, D., Gao, F., Gao, K., Lowe, J.K. et al. (2011) Modeling the functional genomics of autism using human neurons. Mol. Psychiatry, 17, 202-214.
-
(2011)
Mol. Psychiatry
, vol.17
, pp. 202-214
-
-
Konopka, G.1
Wexler, E.2
Rosen, E.3
Mukamel, Z.4
Osborn, G.E.5
Chen, L.6
Lu, D.7
Gao, F.8
Gao, K.9
Lowe, J.K.10
-
77
-
-
40749105508
-
Variations in DNA elucidate molecular networks that cause disease
-
Chen, Y., Zhu, J., Lum, P.Y., Yang, X., Pinto, S., MacNeil, D.J., Zhang, C., Lamb, J., Edwards, S., Sieberts, S.K. et al. (2008) Variations in DNA elucidate molecular networks that cause disease. Nature, 452, 429-435.
-
(2008)
Nature
, vol.452
, pp. 429-435
-
-
Chen, Y.1
Zhu, J.2
Lum, P.Y.3
Yang, X.4
Pinto, S.5
MacNeil, D.J.6
Zhang, C.7
Lamb, J.8
Edwards, S.9
Sieberts, S.K.10
-
78
-
-
41349095280
-
Genetics of gene expression and its effect on disease
-
Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A.S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G.B., Gunnarsdottir, S. et al. (2008) Genetics of gene expression and its effect on disease. Nature, 452, 423-428.
-
(2008)
Nature
, vol.452
, pp. 423-428
-
-
Emilsson, V.1
Thorleifsson, G.2
Zhang, B.3
Leonardson, A.S.4
Zink, F.5
Zhu, J.6
Carlson, S.7
Helgason, A.8
Walters, G.B.9
Gunnarsdottir, S.10
-
79
-
-
42749097422
-
Genetic architecture of transcript-level variation in humans
-
Duan, S., Huang, R.S., Zhang, W., Bleibel, W.K., Roe, C.A., Clark, T.A., Chen, T.X., Schweitzer, A.C., Blume, J.E., Cox, N.J. et al. (2008) Genetic architecture of transcript-level variation in humans. Am. J. Hum. Genet., 82, 1101-1113.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 1101-1113
-
-
Duan, S.1
Huang, R.S.2
Zhang, W.3
Bleibel, W.K.4
Roe, C.A.5
Clark, T.A.6
Chen, T.X.7
Schweitzer, A.C.8
Blume, J.E.9
Cox, N.J.10
-
80
-
-
41149161113
-
Evaluation of genetic variation contributing to differences in gene expression between populations
-
Zhang, W., Duan, S., Kistner, E.O., Bleibel, W.K., Huang, R.S., Clark, T.A., Chen, T.X., Schweitzer, A.C., Biume, J.E., Cox, N.J. et al. (2008) Evaluation of genetic variation contributing to differences in gene expression between populations. Am. J. Hum. Genet., 82, 631-640.
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 631-640
-
-
Zhang, W.1
Duan, S.2
Kistner, E.O.3
Bleibel, W.K.4
Huang, R.S.5
Clark, T.A.6
Chen, T.X.7
Schweitzer, A.C.8
Biume, J.E.9
Cox, N.J.10
-
81
-
-
79959503826
-
The International HapMap Project
-
Gibbs, R.A., Belmont, J.W., Hardenbol, P., Willis, T.D., Yu, F.L., Yang, H.M., Ch'ang, L.Y., Huang, W., Liu, B., Shen, Y. et al. (2003) The International HapMap Project. Nature, 426, 789-796.
-
(2003)
Nature
, vol.426
, pp. 789-796
-
-
Gibbs, R.A.1
Belmont, J.W.2
Hardenbol, P.3
Willis, T.D.4
Yu, F.L.5
Yang, H.M.6
Ch'ang, L.Y.7
Huang, W.8
Liu, B.9
Shen, Y.10
-
82
-
-
0034916325
-
The Autism Genetic Resource Exchange: a resource for the study of autism and related neuropsychiatric conditions
-
Geschwind, D.H., Sowinski, J., Lord, C., Iversen, P., Shestack, J., Jones, P., Ducat, L. and Spence, S.J. (2001) The Autism Genetic Resource Exchange: a resource for the study of autism and related neuropsychiatric conditions. Am. J. Hum. Genet., 69, 463-466.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 463-466
-
-
Geschwind, D.H.1
Sowinski, J.2
Lord, C.3
Iversen, P.4
Shestack, J.5
Jones, P.6
Ducat, L.7
Spence, S.J.8
-
83
-
-
77957927440
-
The Simons simplex collection: a resource for identification of autism genetic risk factors
-
Fischbach, G.D. and Lord, C. (2010) The Simons simplex collection: a resource for identification of autism genetic risk factors. Neuron, 68, 192-195.
-
(2010)
Neuron
, vol.68
, pp. 192-195
-
-
Fischbach, G.D.1
Lord, C.2
-
84
-
-
2442526113
-
Molecular cytogenetics of autism
-
Xu, J., Zwaigenbaum, L., Szatmari, P. and Scherer, S.W. (2004) Molecular cytogenetics of autism. Curr. Genomics, 5, 347-364.
-
(2004)
Curr. Genomics
, vol.5
, pp. 347-364
-
-
Xu, J.1
Zwaigenbaum, L.2
Szatmari, P.3
Scherer, S.W.4
-
85
-
-
35948984173
-
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
-
Wang, K., Li, M.Y., Hadley, D., Liu, R., Glessner, J., Grant, S.F.A., Hakonarson, H. and Bucan, M. (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res., 17, 1665-1674.
-
(2007)
Genome Res.
, vol.17
, pp. 1665-1674
-
-
Wang, K.1
Li, M.Y.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.A.6
Hakonarson, H.7
Bucan, M.8
-
86
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., Scherer, S.W. and Lee, C. (2004) Detection of large-scale variation in the human genome. Nat. Genet., 36, 949-951.
-
(2004)
Nat. Genet.
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
87
-
-
62649155943
-
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals
-
Browning, B.L. and Browning, S.R. (2009) A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet., 84, 210-223.
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 210-223
-
-
Browning, B.L.1
Browning, S.R.2
-
89
-
-
79251581866
-
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies
-
McCarty, C.A., Chisholm, R.L., Chute, C.G., Kullo, I.J., Jarvik, G.P., Larson, E.B., Li, R., Masys, D.R., Ritchie, M.D., Roden, D.M. et al. (2011) The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med. Genomics, 4, 13.
-
(2011)
BMC Med. Genomics
, vol.4
, pp. 13
-
-
McCarty, C.A.1
Chisholm, R.L.2
Chute, C.G.3
Kullo, I.J.4
Jarvik, G.P.5
Larson, E.B.6
Li, R.7
Masys, D.R.8
Ritchie, M.D.9
Roden, D.M.10
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