-
1
-
-
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., et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics, 19, 4072–4082.
-
(2010)
Human Molecular Genetics
, vol.19
, pp. 4072-4082
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Regan, R.4
Conroy, J.5
Magalhaes, T.R.6
-
2
-
-
84925726856
-
Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility
-
Bacchelli, E., Battaglia, A., Cameli, C., Lomartire, S., Tancredi, R., Thomson, S., et al. (2015). Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. Am J Med Genet A 167A, 4, 715–723.
-
(2015)
Am J Med Genet A 167A
, vol.4
, pp. 715-723
-
-
Bacchelli, E.1
Battaglia, A.2
Cameli, C.3
Lomartire, S.4
Tancredi, R.5
Thomson, S.6
-
3
-
-
84939793826
-
From the genetic architecture to synaptic plasticity in autism spectrum disorder
-
Bourgeron, T. (2015). From the genetic architecture to synaptic plasticity in autism spectrum disorder. Nature Reviews Neuroscience, 16, 9, 551–563.
-
(2015)
Nature Reviews Neuroscience
, vol.16
, Issue.9
, pp. 551-563
-
-
Bourgeron, T.1
-
4
-
-
77956381675
-
Genetics in psychiatry: Common variant association studies
-
Buxbaum, J.D., Baron-Cohen, S., Devlin, B. (2010). Genetics in psychiatry: Common variant association studies. Molecular Autism, 1, 1, 6.
-
(2010)
Molecular Autism
, vol.1
, Issue.1
, pp. 6
-
-
Buxbaum, J.D.1
Baron-Cohen, S.2
Devlin, B.3
-
5
-
-
77949676046
-
Hotspots of large rare deletions in the human genome
-
Bradley, W.E., Raelson, J.V., Dubois, D.Y., Godin, E., Fournier, H., Prive, C., et al. (2010). Hotspots of large rare deletions in the human genome. PLoS One, 5, 2, e9401.
-
(2010)
PLoS One
, vol.5
, Issue.2
-
-
Bradley, W.E.1
Raelson, J.V.2
Dubois, D.Y.3
Godin, E.4
Fournier, H.5
Prive, C.6
-
6
-
-
84925859448
-
Heritability of autism spectrum disorder in a UK population-based twin sample
-
Colvert, E., Tick, B., McEwen, F., Stewart, C., Curran, S. R., Woodhouse, E., et al. (2015). Heritability of autism spectrum disorder in a UK population-based twin sample. JAMA Psychiatry 72, 415–423.
-
(2015)
JAMA Psychiatry
, vol.72
, pp. 415-423
-
-
Colvert, E.1
Tick, B.2
McEwen, F.3
Stewart, C.4
Curran, S.R.5
Woodhouse, E.6
-
7
-
-
84871267657
-
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population
-
Comuzzie, A.G., Cole, S.A., Laston, S.L., Voruganti, V.S., Haack, K., Gibbs, R.A., et al. (2012). Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. PLoS One, 7, 12, e51954.
-
(2012)
PLoS One
, vol.7
, Issue.12
-
-
Comuzzie, A.G.1
Cole, S.A.2
Laston, S.L.3
Voruganti, V.S.4
Haack, K.5
Gibbs, R.A.6
-
8
-
-
69349107471
-
Common body mass index-associated variants confer risk of extreme obesity
-
Cotsapas, C., Speliotes, E.K., Hatoum, I.J., Greenawalt, D.M., Dobrin, R., Lum, P.Y., et al. (2009). Common body mass index-associated variants confer risk of extreme obesity. Human Molecular Genetics, 18, 18, 3502–3507.
-
(2009)
Human Molecular Genetics
, vol.18
, Issue.18
, pp. 3502-3507
-
-
Cotsapas, C.1
Speliotes, E.K.2
Hatoum, I.J.3
Greenawalt, D.M.4
Dobrin, R.5
Lum, P.Y.6
-
9
-
-
84883465830
-
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
-
Cross-Disorder Group of the Psychiatric Genomics, C., Lee, S.H., Ripke, S., Neale, B.M., Faraone, S.V., Purcell, S.M., et al. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45, 984–994.
-
(2013)
Nature Genetics
, vol.45
, pp. 984-994
-
-
Lee, S.H.1
Ripke, S.2
Neale, B.M.3
Faraone, S.V.4
Purcell, S.M.5
-
10
-
-
80051564758
-
No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder
-
Curran, S., Bolton, P., Rozsnyai, K., Chiocchetti, A., Klauck, S.M., Duketis, E., et al. (2011). No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 156B, 633–639.
-
(2011)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
, vol.156B
, pp. 633-639
-
-
Curran, S.1
Bolton, P.2
Rozsnyai, K.3
Chiocchetti, A.4
Klauck, S.M.5
Duketis, E.6
-
11
-
-
20044390596
-
Pervasive developmental disorders in preschool children: Confirmation of high prevalence
-
Chakrabarti, S. & Fombonne, E. (2005). Pervasive developmental disorders in preschool children: Confirmation of high prevalence. American Journal of Psychiatry, 162, 1133–1141.
-
(2005)
American Journal of Psychiatry
, vol.162
, pp. 1133-1141
-
-
Chakrabarti, S.1
Fombonne, E.2
-
12
-
-
84880251662
-
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk
-
Cheng, Y., Quinn, J.F. & Weiss, L.A. (2013). An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. Human Molecular Genetics, 22, 2960–2972.
-
(2013)
Human Molecular Genetics
, vol.22
, pp. 2960-2972
-
-
Cheng, Y.1
Quinn, J.F.2
Weiss, L.A.3
-
13
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis, S., He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Cicek, A. E., et al. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209–215.
-
(2014)
Nature
, vol.515
, pp. 209-215
-
-
De Rubeis, S.1
He, X.2
Goldberg, A.P.3
Poultney, C.S.4
Samocha, K.5
Cicek, A.E.6
-
15
-
-
84936125915
-
Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born hippocampal dentate granule cells
-
Duan, Y., Wang, S.H., Song, J., Mironova, Y., Ming, G.L., Kolodkin, A.L., et al. (2014). Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born hippocampal dentate granule cells. eLife, 3.
-
(2014)
eLife
, pp. 3
-
-
Duan, Y.1
Wang, S.H.2
Song, J.3
Mironova, Y.4
Ming, G.L.5
Kolodkin, A.L.6
-
16
-
-
84862160222
-
Global prevalence of autism and other pervasive developmental disorders
-
Elsabbagh, M., Divan, G., Koh, Y.J., Kim, Y.S., Kauchali, S., Marcin, C., et al. (2012). Global prevalence of autism and other pervasive developmental disorders. Autism Research, 5, 160–179.
-
(2012)
Autism Research
, vol.5
, pp. 160-179
-
-
Elsabbagh, M.1
Divan, G.2
Koh, Y.J.3
Kim, Y.S.4
Kauchali, S.5
Marcin, C.6
-
17
-
-
67049118065
-
Epidemiology of pervasive developmental disorders
-
Fombonne, E. (2009). Epidemiology of pervasive developmental disorders. Pediatric Research, 65, 591–598.
-
(2009)
Pediatric Research
, vol.65
, pp. 591-598
-
-
Fombonne, E.1
-
18
-
-
33845797961
-
The genetics of autistic disorders and its clinical relevance: A review of the literature
-
Freitag, C.M. (2007). The genetics of autistic disorders and its clinical relevance: A review of the literature. Molecular Psychiatry, 12, 1, 2–22.
-
(2007)
Molecular Psychiatry
, vol.12
, Issue.1
, pp. 2-22
-
-
Freitag, C.M.1
-
19
-
-
84925937250
-
minimac2: Faster genotype imputation
-
Fuchsberger, C., Abecasis, G.R. & Hinds, D.A. (2015). minimac2: Faster genotype imputation. Bioinformatics, 31, 782–784.
-
(2015)
Bioinformatics
, vol.31
, pp. 782-784
-
-
Fuchsberger, C.1
Abecasis, G.R.2
Hinds, D.A.3
-
20
-
-
84905582433
-
Most genetic risk for autism resides with common variation
-
Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., Lee, A. B., et al. (2014). Most genetic risk for autism resides with common variation. Nat Genet 46, 881–885.
-
(2014)
Nat Genet
, vol.46
, pp. 881-885
-
-
Gaugler, T.1
Klei, L.2
Sanders, S.J.3
Bodea, C.A.4
Goldberg, A.P.5
Lee, A.B.6
-
21
-
-
79960858895
-
Are Sema5a mutant mice a good model of autism?
-
Gunn, R.K., Huentelman, M.J. & Brown, R.E. (2011). Are Sema5a mutant mice a good model of autism? A behavioral analysis of sensory systems, emotionality and cognition. Behavioural Brain Research, 225, 142–150.
-
(2011)
A behavioral analysis of sensory systems, emotionality and cognition. Behavioural Brain Research
, vol.225
, pp. 142-150
-
-
Gunn, R.K.1
Huentelman, M.J.2
Brown, R.E.3
-
22
-
-
67651222400
-
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
-
Howie, B.N., Donnelly, P. & Marchini, J. (2009). A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genetics, 5, e1000529.
-
(2009)
PLoS Genetics
, vol.5
-
-
Howie, B.N.1
Donnelly, P.2
Marchini, J.3
-
23
-
-
79960938123
-
A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism
-
Hussman, J.P., Chung, R.H., Griswold, A.J., Jaworski, J.M., Salyakina, D., Ma, D., et al. (2011). A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. Molecular Autism, 2, 1.
-
(2011)
Molecular Autism
, vol.2
, pp. 1
-
-
Hussman, J.P.1
Chung, R.H.2
Griswold, A.J.3
Jaworski, J.M.4
Salyakina, D.5
Ma, D.6
-
24
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov, I., O'Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., et al. (2014). The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216–221.
-
(2014)
Nature
, vol.515
, pp. 216-221
-
-
Iossifov, I.1
O'Roak, B.J.2
Sanders, S.J.3
Ronemus, M.4
Krumm, N.5
Levy, D.6
-
25
-
-
84923920708
-
MACROD2 gene associated with autistic-like traits in a general population sample
-
Jones, R.M., Cadby, G., Blangero, J., Abraham, L.J., Whitehouse, A.J. & Moses, E.K. (2014). MACROD2 gene associated with autistic-like traits in a general population sample. Psychiatric Genetics, 24, 241–248.
-
(2014)
Psychiatric Genetics
, vol.24
, pp. 241-248
-
-
Jones, R.M.1
Cadby, G.2
Blangero, J.3
Abraham, L.J.4
Whitehouse, A.J.5
Moses, E.K.6
-
26
-
-
84989199361
-
Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10
-
Jonsson, L., Zettergren, A., Pettersson, E., Hovey, D., Anckarsater, H., Westberg, L., et al. (2014). Association study between autistic-like traits and polymorphisms in the autism candidate regions RELN, CNTNAP2, SHANK3, and CDH9/10. Molecular Autism, 5, 55.
-
(2014)
Molecular Autism
, vol.5
, pp. 55
-
-
Jonsson, L.1
Zettergren, A.2
Pettersson, E.3
Hovey, D.4
Anckarsater, H.5
Westberg, L.6
-
27
-
-
84859513087
-
A noncoding RNA antisense to moesin at 5p14.1 in autism
-
Kerin, T., Ramanathan, A., Rivas, K., Grepo, N., Coetzee, G.A. & Campbell, D.B. (2012). A noncoding RNA antisense to moesin at 5p14.1 in autism. Science Translational Medicine, 4, 128ra140.
-
(2012)
Science Translational Medicine
, vol.4
, pp. 128ra140
-
-
Kerin, T.1
Ramanathan, A.2
Rivas, K.3
Grepo, N.4
Coetzee, G.A.5
Campbell, D.B.6
-
28
-
-
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., et al. (2012). Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism, 3, 9.
-
(2012)
Molecular 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
-
29
-
-
84862116032
-
Genome-wide association study identifies candidate genes for male fertility traits in humans
-
Kosova, G., Scott, N.M., Niederberger, C., Prins, G.S. & Ober, C. (2012). Genome-wide association study identifies candidate genes for male fertility traits in humans. American Journal of Human Genetics, 90, 950–961.
-
(2012)
American Journal of Human Genetics
, vol.90
, pp. 950-961
-
-
Kosova, G.1
Scott, N.M.2
Niederberger, C.3
Prins, G.S.4
Ober, C.5
-
30
-
-
84947899575
-
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
-
Kottgen, A., Albrecht, E., Teumer, A., Vitart, V., Krumsiek, J., Hundertmark, C., et al. (2013). Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature Genetics, 45, 145–154.
-
(2013)
Nature Genetics
, vol.45
, pp. 145-154
-
-
Kottgen, A.1
Albrecht, E.2
Teumer, A.3
Vitart, V.4
Krumsiek, J.5
Hundertmark, C.6
-
31
-
-
84930082024
-
Excess of rare, inherited truncating mutations in autism
-
Krumm, N., Turner, T.N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., et al. (2015). Excess of rare, inherited truncating mutations in autism. Nature Genetics, 47, 582–588.
-
(2015)
Nature Genetics
, vol.47
, pp. 582-588
-
-
Krumm, N.1
Turner, T.N.2
Baker, C.3
Vives, L.4
Mohajeri, K.5
Witherspoon, K.6
-
32
-
-
84955195749
-
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
-
Li, J., Cai, T., Jiang, Y., Chen, H., He, X., Chen, C., et al. (2016). Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Molecular Psychiatry, 21, 290–297.
-
(2016)
Molecular Psychiatry
, vol.21
, pp. 290-297
-
-
Li, J.1
Cai, T.2
Jiang, Y.3
Chen, H.4
He, X.5
Chen, C.6
-
33
-
-
80051709029
-
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
-
Lionel, A.C., Crosbie, J., Barbosa, N., Goodale, T., Thiruvahindrapuram, B., Rickaby, J., et al. (2011). Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Science Translational Medicine, 3, 95ra75.
-
(2011)
Science Translational Medicine
, vol.3
, pp. 95ra75
-
-
Lionel, A.C.1
Crosbie, J.2
Barbosa, N.3
Goodale, T.4
Thiruvahindrapuram, B.5
Rickaby, J.6
-
34
-
-
0033802632
-
The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism
-
Lord, C., Risi, S., Lambrecht, L., Cook, E.H., Jr., Leventhal, B.L., DiLavore, P.C., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30, 205–223.
-
(2000)
Journal of Autism and Developmental Disorders
, vol.30
, pp. 205-223
-
-
Lord, C.1
Risi, S.2
Lambrecht, L.3
Cook, E.H.4
Leventhal, B.L.5
DiLavore, P.C.6
-
35
-
-
0027997172
-
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
-
Lord, C., Rutter, M. & Le Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.
-
(1994)
Journal of Autism and Developmental Disorders
, vol.24
, pp. 659-685
-
-
Lord, C.1
Rutter, M.2
Le Couteur, A.3
-
36
-
-
65449184161
-
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1
-
Pt
-
Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., et al. (2009). A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Annuals of Human Genetics 73, Pt 3, 263–273.
-
(2009)
Annuals of Human Genetics
, vol.73
, Issue.3
, pp. 263-273
-
-
Ma, D.1
Salyakina, D.2
Jaworski, J.M.3
Konidari, I.4
Whitehead, P.L.5
Andersen, A.N.6
-
37
-
-
33750687891
-
Constitutional downregulation of SEMA5A expression in autism
-
Melin, M., Carlsson, B., Anckarsater, H., Rastam, M., Betancur, C., Isaksson, A., et al. (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
-
38
-
-
84860583712
-
Evaluating the evidence for transmission distortion in human pedigrees
-
Meyer, W.K., Arbeithuber, B., Ober, C., Ebner, T., Tiemann-Boege, I., Hudson, R.R., et al. (2012). Evaluating the evidence for transmission distortion in human pedigrees. Genetics, 191, 215–232.
-
(2012)
Genetics
, vol.191
, pp. 215-232
-
-
Meyer, W.K.1
Arbeithuber, B.2
Ober, C.3
Ebner, T.4
Tiemann-Boege, I.5
Hudson, R.R.6
-
39
-
-
84942133878
-
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability
-
Mosca-Boidron, A.L., Gueneau, L., Huguet, G., Goldenberg, A., Henry, C., Gigot, N., et al. (2015). A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. European Journal of Human Genetics, 24, 838–843.
-
(2015)
European Journal of Human Genetics
, vol.24
, pp. 838-843
-
-
Mosca-Boidron, A.L.1
Gueneau, L.2
Huguet, G.3
Goldenberg, A.4
Henry, C.5
Gigot, N.6
-
40
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale, B.M., Kou, Y., Liu, L., Ma'ayan, A., Samocha, K.E., Sabo, A., et al. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485, 242–245.
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'ayan, A.4
Samocha, K.E.5
Sabo, A.6
-
41
-
-
84905632330
-
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families
-
Prandini, P., Pasquali, A., Malerba, G., Marostica, A., Zusi, C., Xumerle, L., et al. (2012). The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. Psychiatric Genetics, 22, 177–181.
-
(2012)
Psychiatric Genetics
, vol.22
, pp. 177-181
-
-
Prandini, P.1
Pasquali, A.2
Malerba, G.3
Marostica, A.4
Zusi, C.5
Xumerle, L.6
-
42
-
-
12244264435
-
Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits
-
Purcell, S., Cherny, S.S. & Sham, P.C. (2003). Genetic power calculator: Design of linkage and association genetic mapping studies of complex traits. Bioinformatics, 19, 149–150.
-
(2003)
Bioinformatics
, vol.19
, pp. 149-150
-
-
Purcell, S.1
Cherny, S.S.2
Sham, P.C.3
-
43
-
-
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., Bender, D., et al. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81, 559–575.
-
(2007)
American Journal of Human Genetics
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
-
44
-
-
79955698929
-
Variants in several genomic regions associated with asperger disorder
-
Salyakina, D., Ma, D.Q., Jaworski, J.M., Konidari, I., Whitehead, P.L., Henson, R., et al. (2010). Variants in several genomic regions associated with asperger disorder. Autism Research, 3, 303–310.
-
(2010)
Autism Research
, vol.3
, pp. 303-310
-
-
Salyakina, D.1
Ma, D.Q.2
Jaworski, J.M.3
Konidari, I.4
Whitehead, P.L.5
Henson, R.6
-
45
-
-
84925489079
-
Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder
-
Sanchez-Mora, C., Ramos-Quiroga, J.A., Bosch, R., Corrales, M., Garcia-Martinez, I., Nogueira, M., et al. (2015). Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder. Neuropsychopharmacology, 40, 915–926.
-
(2015)
Neuropsychopharmacology
, vol.40
, pp. 915-926
-
-
Sanchez-Mora, C.1
Ramos-Quiroga, J.A.2
Bosch, R.3
Corrales, M.4
Garcia-Martinez, I.5
Nogueira, M.6
-
46
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders, S.J., Murtha, M.T., Gupta, A.R., Murdoch, J.D., Raubeson, M.J., Willsey, A.J., et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature, 485, 237–241.
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
Murtha, M.T.2
Gupta, A.R.3
Murdoch, J.D.4
Raubeson, M.J.5
Willsey, A.J.6
-
47
-
-
80053384370
-
Genome-wide association study identifies five new schizophrenia loci
-
Schizophrenia Psychiatric Genome-Wide Association Study, C. (2011). Genome-wide association study identifies five new schizophrenia loci. Nat Genet 43, 969–976.
-
(2011)
Nat Genet
, vol.43
, pp. 969-976
-
-
-
48
-
-
84904804929
-
Biological insights from 108 schizophrenia-associated genetic loci
-
Schizophrenia |Working Group of the Psychiatric Genomics, C. (2014). Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421–427.
-
(2014)
Nature
, vol.511
, pp. 421-427
-
-
-
49
-
-
82555194123
-
Two-marker association tests yield new disease associations for coronary artery disease and hypertension
-
Slavin, T.P., Feng, T., Schnell, A., Zhu, X. & Elston, R.C. (2011). Two-marker association tests yield new disease associations for coronary artery disease and hypertension. Human Genetics, 130, 725–733.
-
(2011)
Human Genetics
, vol.130
, pp. 725-733
-
-
Slavin, T.P.1
Feng, T.2
Schnell, A.3
Zhu, X.4
Elston, R.C.5
-
50
-
-
78349233542
-
Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population
-
St Pourcain, B., Wang, K., Glessner, J.T., Golding, J., Steer, C., Ring, S.M., et al. (2010). Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. American Journal of Psychiatry, 167, 1364–1372.
-
(2010)
American Journal of Psychiatry
, vol.167
, pp. 1364-1372
-
-
St Pourcain, B.1
Wang, K.2
Glessner, J.T.3
Golding, J.4
Steer, C.5
Ring, S.M.6
-
51
-
-
84863980709
-
Genetic architectures of psychiatric disorders: The emerging picture and its implications
-
Sullivan, P.F., Daly, M.J. & O'Donovan, M. (2012). Genetic architectures of psychiatric disorders: The emerging picture and its implications. Nature Reviews Genetics, 13, 537–551.
-
(2012)
Nature Reviews Genetics
, vol.13
, pp. 537-551
-
-
Sullivan, P.F.1
Daly, M.J.2
O'Donovan, M.3
-
52
-
-
84884237624
-
Neurotransmitter systems and neurotrophic factors in autism: Association study of 37 genes suggests involvement of DDC
-
Toma, C., Hervas, A., Balmana, N., Salgado, M., Maristany, M., Vilella, E., et al. (2013). Neurotransmitter systems and neurotrophic factors in autism: Association study of 37 genes suggests involvement of DDC. World J Biol Psychiatry 14, 516–527.
-
(2013)
World J Biol Psychiatry
, vol.14
, pp. 516-527
-
-
Toma, C.1
Hervas, A.2
Balmana, N.3
Salgado, M.4
Maristany, M.5
Vilella, E.6
-
53
-
-
84903632999
-
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
-
Toma, C., Torrico, B., Hervas, A., Valdes-Mas, R., Tristan-Noguero, A., Padillo, V., et al. (2014). Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Molecular Psychiatry, 19, 784–790.
-
(2014)
Molecular Psychiatry
, vol.19
, pp. 784-790
-
-
Toma, C.1
Torrico, B.2
Hervas, A.3
Valdes-Mas, R.4
Tristan-Noguero, A.5
Padillo, V.6
-
54
-
-
84948713126
-
Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability
-
Torrico, B., Fernandez-Castillo, N., Hervas, A., Mila, M., Salgado, M., Rueda, I., et al. (2015). Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. European Journal of Human Genetics, 23, 1694–1701.
-
(2015)
European Journal of Human Genetics
, vol.23
, pp. 1694-1701
-
-
Torrico, B.1
Fernandez-Castillo, N.2
Hervas, A.3
Mila, M.4
Salgado, M.5
Rueda, I.6
-
55
-
-
84865498866
-
The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD
-
van Steijn, D. J., Richards, J. S., Oerlemans, A. M., de Ruiter, S. W., van Aken, M. A., Franke, B., et al. (2012). The co-occurrence of autism spectrum disorder and attention-deficit/hyperactivity disorder symptoms in parents of children with ASD or ASD with ADHD. Journal of Child Psychology Psychiatry 53, 954–963.
-
(2012)
Journal of Child Psychology Psychiatry
, vol.53
, pp. 954-963
-
-
van Steijn, D.J.1
Richards, J.S.2
Oerlemans, A.M.3
de Ruiter, S.W.4
van Aken, M.A.5
Franke, B.6
-
56
-
-
84901188282
-
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders
-
Waltes, R., Duketis, E., Knapp, M., Anney, R. J., Huguet, G., Schlitt, S., et al. (2014). Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders. Human Genetics 133, 781–792.
-
(2014)
Human Genetics
, vol.133
, pp. 781-792
-
-
Waltes, R.1
Duketis, E.2
Knapp, M.3
Anney, R.J.4
Huguet, G.5
Schlitt, S.6
-
57
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J.T., Abrahams, B.S., 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
-
58
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss, L.A., Arking, D.E., Gene Discovery Project of Johns, H., the Autism, C., Daly, M.J. & 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
-
59
-
-
85058204934
-
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations
-
Xie, T., Deng, L., Mei, P., Zhou, Y., Wang, B., Zhang, J., et al. (2014). Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. Neurobiology of Aging, 35, 1778 e1779–1778 e1723.
-
(2014)
Neurobiology of Aging
, vol.35
, pp. 1778 e1779-1778 e1723
-
-
Xie, T.1
Deng, L.2
Mei, P.3
Zhou, Y.4
Wang, B.5
Zhang, J.6
-
60
-
-
70349756961
-
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
-
Xu, B., Woodroffe, A., Rodriguez-Murillo, L., Roos, J.L., van Rensburg, E.J., Abecasis, G.R., et al. (2009). Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proceeding of the National Academy of Sciences of the United States of America, 106, 16746–16751.
-
(2009)
Proceeding of the National Academy of Sciences of the United States of America
, vol.106
, pp. 16746-16751
-
-
Xu, B.1
Woodroffe, A.2
Rodriguez-Murillo, L.3
Roos, J.L.4
van Rensburg, E.J.5
Abecasis, G.R.6
|