-
1
-
-
70350517377
-
Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007
-
Kogan, M.D., Blumberg, S.J., Schieve, L.A., Boyle, C.A., Perrin, J.M., Ghandour, R.M., Singh, G.K., Strickland, B.B., Trevathan, E. and van Dyck, P.C. (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
-
2
-
-
73149102059
-
Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006
-
(2009) Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill. Summ., 58, 1-20.
-
(2009)
MMWR Surveill. Summ.
, vol.58
, pp. 1-20
-
-
-
3
-
-
0002085775
-
High-functioning people with autism and asperger syndrome: a literature review
-
Schopler, E., Mesibov, G.B. and Kunce, L.J. (eds), Plenum Press, New York
-
Gillberg, C. and Ehlers, S. (1998) High-functioning people with autism and asperger syndrome: a literature review. In Schopler, E., Mesibov, G.B. and Kunce, L.J. (eds), Asperger Syndrome or High-Functioning Autism? Plenum Press, New York, pp. 79-106.
-
(1998)
Asperger Syndrome or High-Functioning Autism?
, pp. 79-106
-
-
Gillberg, C.1
Ehlers, S.2
-
4
-
-
77049120173
-
The genetics of autism: key issues, recent findings, and clinical implications
-
El-Fishawy, P. and State, M.W. (2010) The genetics of autism: key issues, recent findings, and clinical implications. Psychiatr. Clin. North. Am., 33, 83-105.
-
(2010)
Psychiatr. Clin. North. Am.
, vol.33
, pp. 83-105
-
-
El-Fishawy, P.1
State, M.W.2
-
5
-
-
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
-
6
-
-
0035653670
-
Genetics of autism: complex aetiology for a heterogeneous disorder
-
Folstein, S.E. and Rosen-Sheidley, B. (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. Nat. Rev. Genet., 2, 943-955.
-
(2001)
Nat. Rev. Genet.
, vol.2
, pp. 943-955
-
-
Folstein, S.E.1
Rosen-Sheidley, B.2
-
7
-
-
0029134874
-
Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism
-
Pickles, A., Bolton, P., Macdonald, H., Bailey, A., Le Couteur, A., Sim, C.H. and Rutter, M. (1995) Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am. J. Hum. Genet., 57, 717-726.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 717-726
-
-
Pickles, A.1
Bolton, P.2
Macdonald, H.3
Bailey, A.4
Le Couteur, A.5
Sim, C.H.6
Rutter, M.7
-
8
-
-
0345107244
-
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes
-
Sherr, E.H. (2003) The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr. Opin. Pediatr., 15, 567-571.
-
(2003)
Curr. Opin. Pediatr.
, vol.15
, pp. 567-571
-
-
Sherr, E.H.1
-
9
-
-
51449112549
-
Analysis of X chromosome inactivation in autism spectrum disorders
-
Gong, X., Bacchelli, E., Blasi, F., Toma, C., Betancur, C., Chaste, P., Delorme, R., Durand, C.M., Fauchereau, F., Botros, H.G. et al. (2008) Analysis of X chromosome inactivation in autism spectrum disorders. Am. J. Med. Genet. B Neuropsychiatr. Genet., 147B, 830-835.
-
(2008)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.147 B
, pp. 830-835
-
-
Gong, X.1
Bacchelli, E.2
Blasi, F.3
Toma, C.4
Betancur, C.5
Chaste, P.6
Delorme, R.7
Durand, C.M.8
Fauchereau, F.9
Botros, H.G.10
-
10
-
-
33746805846
-
CACNA1H mutations in autism spectrum disorders
-
Splawski, I., Yoo, D.S., Stotz, S.C., Cherry, A., Clapham, D.E. and Keating, M.T. (2006) CACNA1H mutations in autism spectrum disorders. J. Biol. Chem., 281, 22085-22091.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 22085-22091
-
-
Splawski, I.1
Yoo, D.S.2
Stotz, S.C.3
Cherry, A.4
Clapham, D.E.5
Keating, M.T.6
-
11
-
-
8844269073
-
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
-
Weaving, L.S., Christodoulou, J., Williamson, S.L., Friend, K.L., McKenzie, O.L., Archer, H., Evans, J., Clarke, A., Pelka, G.J., Tam, P.P. et al. (2004) Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am. J. Hum. Genet., 75, 1079-1093.
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 1079-1093
-
-
Weaving, L.S.1
Christodoulou, J.2
Williamson, S.L.3
Friend, K.L.4
McKenzie, O.L.5
Archer, H.6
Evans, J.7
Clarke, A.8
Pelka, G.J.9
Tam, P.P.10
-
12
-
-
0031194166
-
Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32
-
Eudy, J.D., Ma-Edmonds, M., Yao, S.F., Talmadge, C.B., Kelley, P.M., Weston, M.D., Kimberling, W.J. and Sumegi, J. (1997) Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32. Genomics, 43, 104-106.
-
(1997)
Genomics
, vol.43
, pp. 104-106
-
-
Eudy, J.D.1
Ma-Edmonds, M.2
Yao, S.F.3
Talmadge, C.B.4
Kelley, P.M.5
Weston, M.D.6
Kimberling, W.J.7
Sumegi, J.8
-
13
-
-
33748295575
-
Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP
-
Hatton, D.D., Sideris, J., Skinner, M., Mankowski, J., Bailey, D.B. Jr, Roberts, J. and Mirrett, P. (2006) Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am. J. Med. Genet. A, 140A, 1804-1813.
-
(2006)
Am. J. Med. Genet. A
, vol.140 A
, pp. 1804-1813
-
-
Hatton, D.D.1
Sideris, J.2
Skinner, M.3
Mankowski, J.4
Bailey Jr., D.B.5
Roberts, J.6
Mirrett, P.7
-
14
-
-
0035807360
-
A forkhead-domain gene is mutated in a severe speech and language disorder
-
Lai, C.S., Fisher, S.E., Hurst, J.A., Vargha-Khadem, F. and Monaco, A.P. (2001) A forkhead-domain gene is mutated in a severe speech and language disorder. Nature, 413, 519-523.
-
(2001)
Nature
, vol.413
, pp. 519-523
-
-
Lai, C.S.1
Fisher, S.E.2
Hurst, J.A.3
Vargha-Khadem, F.4
Monaco, A.P.5
-
15
-
-
0033667613
-
Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders
-
Ingram, J.L., Stodgell, C.J., Hyman, S.L., Figlewicz, D.A., Weitkamp, L.R. and Rodier, P.M. (2000) Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders. Teratology, 62, 393-405.
-
(2000)
Teratology
, vol.62
, pp. 393-405
-
-
Ingram, J.L.1
Stodgell, C.J.2
Hyman, S.L.3
Figlewicz, D.A.4
Weitkamp, L.R.5
Rodier, P.M.6
-
16
-
-
78649632841
-
Evolving role of MeCP2 in Rett syndrome and autism
-
Lasalle, J.M. and Yasui, D.H. (2009) Evolving role of MeCP2 in Rett syndrome and autism. Epigenomics, 1, 119-130.
-
(2009)
Epigenomics
, vol.1
, pp. 119-130
-
-
Lasalle, J.M.1
Yasui, D.H.2
-
17
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain, S., Quach, H., Betancur, C., Rastam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C. et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet., 34, 27-29.
-
(2003)
Nat. Genet.
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Rastam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
-
18
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P. et al. (2004) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet., 74, 552-557.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
Bonnet-Brilhault, F.2
Gomot, M.3
Blanc, R.4
David, A.5
Moizard, M.P.6
Raynaud, M.7
Ronce, N.8
Lemonnier, E.9
Calvas, P.10
-
19
-
-
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. et al. (2005) Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J. Med. Genet., 42, 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
-
20
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
Durand, C.M., Betancur, C., Boeckers, T.M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I.C., Anckarsater, H. et al. (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat. Genet., 39, 25-27.
-
(2007)
Nat. Genet.
, vol.39
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
Bockmann, J.4
Chaste, P.5
Fauchereau, F.6
Nygren, G.7
Rastam, M.8
Gillberg, I.C.9
Anckarsater, H.10
-
21
-
-
1842428655
-
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism
-
Ramoz, N., Reichert, J.G., Smith, C.J., Silverman, J.M., Bespalova, I.N., Davis, K.L. and Buxbaum, J.D. (2004) Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. Am. J. Psychiatry, 161, 662-669.
-
(2004)
Am. J. Psychiatry
, vol.161
, pp. 662-669
-
-
Ramoz, N.1
Reichert, J.G.2
Smith, C.J.3
Silverman, J.M.4
Bespalova, I.N.5
Davis, K.L.6
Buxbaum, J.D.7
-
22
-
-
28044456974
-
Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2
-
Tavazoie, S.F., Alvarez, V.A., Ridenour, D.A., Kwiatkowski, D.J. and Sabatini, B.L. (2005) Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2. Nat. Neurosci., 8, 1727-1734.
-
(2005)
Nat. Neurosci.
, vol.8
, pp. 1727-1734
-
-
Tavazoie, S.F.1
Alvarez, V.A.2
Ridenour, D.A.3
Kwiatkowski, D.J.4
Sabatini, B.L.5
-
23
-
-
1542753558
-
Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism
-
Serajee, F.J., Nabi, R., Zhong, H. and Mahbubul Huq, A.H. (2003) Association of INPP1, PIK3CG, and TSC2 gene variants with autistic disorder: implications for phosphatidylinositol signalling in autism. J. Med. Genet., 40, e119.
-
(2003)
J. Med. Genet.
, vol.40
-
-
Serajee, F.J.1
Nabi, R.2
Zhong, H.3
Mahbubul Huq, A.H.4
-
24
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner, J.T., Wang, K., Cai, G., Korvatska, O., Kim, C.E., Wood, S., Zhang, H., 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.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
-
25
-
-
75749103383
-
Rate, molecular spectrum, and consequences of human mutation
-
Lynch, M. (2010) Rate, molecular spectrum, and consequences of human mutation. Proc. Natl Acad. Sci. USA, 107, 961-968.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 961-968
-
-
Lynch, M.1
-
26
-
-
70350545899
-
Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families
-
Li, J., Tabor, H.K., Nguyen, L., Gleason, C., Lotspeich, L.J., Spiker, D., Risch, N. and Myers, R.M. (2002) Lack of association between HoxA1 and HoxB1 gene variants and autism in 110 multiplex families. Am. J. Med. Genet., 114, 24-30.
-
(2002)
Am. J. Med. Genet.
, vol.114
, pp. 24-30
-
-
Li, J.1
Tabor, H.K.2
Nguyen, L.3
Gleason, C.4
Lotspeich, L.J.5
Spiker, D.6
Risch, N.7
Myers, R.M.8
-
27
-
-
0037044008
-
No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network
-
Devlin, B., Bennett, P., Cook, E.H. Jr, Dawson, G., Gonen, D., Grigorenko, E.L., McMahon, W., Pauls, D., Smith, M., Spence, M.A. et al. (2002) No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network. Am. J. Med. Genet., 114, 667-672.
-
(2002)
Am. J. Med. Genet.
, vol.114
, pp. 667-672
-
-
Devlin, B.1
Bennett, P.2
Cook Jr., E.H.3
Dawson, G.4
Gonen, D.5
Grigorenko, E.L.6
McMahon, W.7
Pauls, D.8
Smith, M.9
Spence, M.A.10
-
28
-
-
0036833528
-
No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD)
-
Talebizadeh, Z., Bittel, D.C., Miles, J.H., Takahashi, N., Wang, C.H., Kibiryeva, N. and Butler, M.G. (2002) No association between HOXA1 and HOXB1 genes and autism spectrum disorders (ASD). J. Med. Genet., 39, e70.
-
(2002)
J. Med. Genet.
, vol.39
-
-
Talebizadeh, Z.1
Bittel, D.C.2
Miles, J.H.3
Takahashi, N.4
Wang, C.H.5
Kibiryeva, N.6
Butler, M.G.7
-
29
-
-
10744231068
-
Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients
-
Romano, V., Cali, F., Mirisola, M., Gambino, G., D'Anna, R., Di Rosa, P., Seidita, G., Chiavetta, V., Aiello, F., Canziani, F. et al. (2003) Lack of association of HOXA1 and HOXB1 mutations and autism in Sicilian (Italian) patients. Mol. Psychiatry, 8, 716-717.
-
(2003)
Mol. Psychiatry
, vol.8
, pp. 716-717
-
-
Romano, V.1
Cali, F.2
Mirisola, M.3
Gambino, G.4
D'Anna, R.5
Di Rosa, P.6
Seidita, G.7
Chiavetta, V.8
Aiello, F.9
Canziani, F.10
-
30
-
-
0041706260
-
The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project
-
Collins, J.S., Schroer, R.J., Bird, J. and Michaelis, R.C. (2003) The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project. J. Autism Dev. Disord., 33, 343-348.
-
(2003)
J. Autism Dev. Disord.
, vol.33
, pp. 343-348
-
-
Collins, J.S.1
Schroer, R.J.2
Bird, J.3
Michaelis, R.C.4
-
31
-
-
0347993123
-
No association between allelic variants of HOXA1/HOXB1 and autism
-
Gallagher, L., Hawi, Z., Kearney, G., Fitzgerald, M. and Gill, M. (2004) No association between allelic variants of HOXA1/HOXB1 and autism. Am. J. Med. Genet. B Neuropsychiatr. Genet., 124B, 64-67.
-
(2004)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.124 B
, pp. 64-67
-
-
Gallagher, L.1
Hawi, Z.2
Kearney, G.3
Fitzgerald, M.4
Gill, M.5
-
32
-
-
18344368187
-
FOXP2 is not a major susceptibility gene for autism or specific language impairment
-
Newbury, D.F., Bonora, E., Lamb, J.A., Fisher, S.E., Lai, C.S., Baird, G., Jannoun, L., Slonims, V., Stott, C.M., Merricks, M.J. et al. (2002) FOXP2 is not a major susceptibility gene for autism or specific language impairment. Am. J. Hum. Genet., 70, 1318-1327.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1318-1327
-
-
Newbury, D.F.1
Bonora, E.2
Lamb, J.A.3
Fisher, S.E.4
Lai, C.S.5
Baird, G.6
Jannoun, L.7
Slonims, V.8
Stott, C.M.9
Merricks, M.J.10
-
33
-
-
0037043075
-
Evaluation of FOXP2 as an autism susceptibility gene
-
Wassink, T.H., Piven, J., Vieland, V.J., Pietila, J., Goedken, R.J., Folstein, S.E. and Sheffield, V.C. (2002) Evaluation of FOXP2 as an autism susceptibility gene. Am. J. Med. Genet., 114, 566-569.
-
(2002)
Am. J. Med. Genet.
, vol.114
, pp. 566-569
-
-
Wassink, T.H.1
Piven, J.2
Vieland, V.J.3
Pietila, J.4
Goedken, R.J.5
Folstein, S.E.6
Sheffield, V.C.7
-
34
-
-
0037487188
-
Mutation screening of FOXP2 in individuals diagnosed with autistic disorder
-
Gauthier, J., Joober, R., Mottron, L., Laurent, S., Fuchs, M., De Kimpe, V. and Rouleau, G.A. (2003) Mutation screening of FOXP2 in individuals diagnosed with autistic disorder. Am. J. Med. Genet. A, 118A, 172-175.
-
(2003)
Am. J. Med. Genet. A
, vol.118 A
, pp. 172-175
-
-
Gauthier, J.1
Joober, R.2
Mottron, L.3
Laurent, S.4
Fuchs, M.5
De Kimpe, V.6
Rouleau, G.A.7
-
35
-
-
21044445447
-
Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits
-
MacDermot, K.D., Bonora, E., Sykes, N., Coupe, A.M., Lai, C.S., Vernes, S.C., Vargha-Khadem, F., McKenzie, F., Smith, R.L., Monaco, A.P. et al. (2005) Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am. J. Hum. Genet., 76, 1074-1080.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 1074-1080
-
-
MacDermot, K.D.1
Bonora, E.2
Sykes, N.3
Coupe, A.M.4
Lai, C.S.5
Vernes, S.C.6
Vargha-Khadem, F.7
McKenzie, F.8
Smith, R.L.9
Monaco, A.P.10
-
36
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan, S., Rosenfeld, J.A., Cooper, G.M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S.E., Baker, C. et al. (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
-
37
-
-
79952575575
-
Epilepsy and the new cytogenetics
-
Mulley, J.C. and Mefford, H.C. (2011) Epilepsy and the new cytogenetics. Epilepsia, 52, 423-432.
-
(2011)
Epilepsia
, vol.52
, pp. 423-432
-
-
Mulley, J.C.1
Mefford, H.C.2
-
38
-
-
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
-
39
-
-
0033803952
-
Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways
-
Vockley, J., Rinaldo, P., Bennett, M.J., Matern, D. and Vladutiu, G.D. (2000) Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet. Metab., 71, 10-18.
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 10-18
-
-
Vockley, J.1
Rinaldo, P.2
Bennett, M.J.3
Matern, D.4
Vladutiu, G.D.5
-
40
-
-
15744390996
-
Intergenerational transmission of subthreshold autistic traits in the general population
-
Constantino, J.N. and Todd, R.D. (2005) Intergenerational transmission of subthreshold autistic traits in the general population. Biol. Psychiatry, 57, 655-660.
-
(2005)
Biol. Psychiatry
, vol.57
, pp. 655-660
-
-
Constantino, J.N.1
Todd, R.D.2
-
41
-
-
78649484216
-
A de novo paradigm for mental retardation
-
Vissers, L.E., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M. et al. (2010) A de novo paradigm for mental retardation. Nat. Genet., 42, 1109-1112.
-
(2010)
Nat. Genet.
, vol.42
, pp. 1109-1112
-
-
Vissers, L.E.1
de Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
de Vries, P.6
van Lier, B.7
Arts, P.8
Wieskamp, N.9
del Rosario, M.10
-
42
-
-
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
-
43
-
-
34548084253
-
SNPdetector: a software tool for sensitive and accurate SNP detection
-
Zhang, J., Wheeler, D.A., Yakub, I., Wei, S., Sood, R., Rowe, W., Liu, P.P., Gibbs, R.A. and Buetow, K.H. (2005) SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput. Biol., 1, e53.
-
(2005)
PLoS Comput. Biol.
, vol.1
-
-
Zhang, J.1
Wheeler, D.A.2
Yakub, I.3
Wei, S.4
Sood, R.5
Rowe, W.6
Liu, P.P.7
Gibbs, R.A.8
Buetow, K.H.9
|