-
1
-
-
84870469320
-
Diagnostic and statistical manual of mental disorders
-
Fourth edition. American Psychiatric Association.
-
American Psychiatric Association (2000). Diagnostic and statistical manual of mental disorders, Fourth edition. American Psychiatric Association. 943p.
-
(2000)
, pp. 943
-
-
-
2
-
-
0036780698
-
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27
-
Auranen, M., Vanhala, R., Varilo, T., Ayers, K., Kempas, E., Ylisaukko-Oja, T., Järvelä, I. (2002). A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. American Journal of Human Genetics, 71, 777-790. doi:10.1086/342720
-
(2002)
American Journal of Human Genetics
, vol.71
, pp. 777-790
-
-
Auranen, M.1
Vanhala, R.2
Varilo, T.3
Ayers, K.4
Kempas, E.5
Ylisaukko-Oja, T.6
Järvelä, I.7
-
3
-
-
34547602163
-
GeneTrail-advanced gene set enrichment analysis
-
Backes, C., Keller, A., Kuentzer, J., Kneissl, B., Comtesse, N., Elnakady, Y. A., Lenhof, H. P. (2007). GeneTrail-advanced gene set enrichment analysis. Nucleic Acids Research, 35(Web Server issue), W186-92. doi:10.1093/nar/gkm323
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.WEB SERVER ISSUE
, pp. W186-W192
-
-
Backes, C.1
Keller, A.2
Kuentzer, J.3
Kneissl, B.4
Comtesse, N.5
Elnakady, Y.A.6
Lenhof, H.P.7
-
4
-
-
0027215902
-
Regulation of gene expression in hippocampal neurons by distinct calcium signaling pathways
-
doi:8097060
-
Bading, H., Ginty, D. D., & Greenberg, M. E. (1993). Regulation of gene expression in hippocampal neurons by distinct calcium signaling pathways. Science, 260, 181-186. doi:8097060
-
(1993)
Science
, vol.260
, pp. 181-186
-
-
Bading, H.1
Ginty, D.D.2
Greenberg, M.E.3
-
5
-
-
78650373804
-
Network medicine: a network-based approach to human disease
-
Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011). Network medicine: a network-based approach to human disease. Nature Reviews. Genetics, 12, 56-68. doi:10.1038/nrg2918
-
(2011)
Nature Reviews. Genetics
, vol.12
, pp. 56-68
-
-
Barabási, A.-L.1
Gulbahce, N.2
Loscalzo, J.3
-
6
-
-
79952313620
-
Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting
-
Betancur, C. (2011). Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Research, 1380, 42-77. doi:10.1016/j.brainres.2010.11.078
-
(2011)
Brain Research
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
7
-
-
33644602352
-
Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism
-
Buyske, S., Williams, T. A., Mars, A. E., Stenroos, E. S., Ming, S. X., Wang, R., Johnson, W. G. (2006). Analysis of case-parent trios at a locus with a deletion allele: association of GSTM1 with autism. BMC Genetics, 7, 8. doi:10.1186/1471-2156-7-8
-
(2006)
BMC Genetics
, vol.7
, pp. 8
-
-
Buyske, S.1
Williams, T.A.2
Mars, A.E.3
Stenroos, E.S.4
Ming, S.X.5
Wang, R.6
Johnson, W.G.7
-
8
-
-
84875898947
-
Autism spectrum disorder in the genetics clinic: a review
-
Carter, M. T., & Scherer, S. W. (2013). Autism spectrum disorder in the genetics clinic: a review. Clinical Genetics, 83, 399-407. doi:10.1111/cge.12101
-
(2013)
Clinical Genetics
, vol.83
, pp. 399-407
-
-
Carter, M.T.1
Scherer, S.W.2
-
9
-
-
44349186162
-
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder
-
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Cook, E. H. (2008). Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biological Psychiatry, 63, 1111-1117. doi:10.1016/j.biopsych.2008.01.009
-
(2008)
Biological Psychiatry
, vol.63
, pp. 1111-1117
-
-
Christian, S.L.1
Brune, C.W.2
Sudi, J.3
Kumar, R.A.4
Liu, S.5
Karamohamed, S.6
Cook, E.H.7
-
10
-
-
34247877877
-
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
-
Colella, S., Yau, C., Taylor, J. M., Mirza, G., Butler, H., Clouston, P., Ragoussis, J. (2007). QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Research, 35(6), 2013-2025. doi:10.1093/nar/gkm076
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.6
, pp. 2013-2025
-
-
Colella, S.1
Yau, C.2
Taylor, J.M.3
Mirza, G.4
Butler, H.5
Clouston, P.6
Ragoussis, J.7
-
11
-
-
84862493260
-
Genetic architecture in autism spectrum disorder
-
Devlin, B., & Scherer, S. W. (2012). Genetic architecture in autism spectrum disorder. Current Opinion in Genetics & Development, 22, 229-237. doi:10.1016/j.gde.2012.03.002
-
(2012)
Current Opinion in Genetics & Development
, vol.22
, pp. 229-237
-
-
Devlin, B.1
Scherer, S.W.2
-
12
-
-
84872593582
-
Activity-dependent neuronal signalling and autism spectrum disorder
-
Ebert, D. H., & Greenberg, M. E. (2013). Activity-dependent neuronal signalling and autism spectrum disorder. Nature, 493, 327-37. doi:10.1038/nature11860
-
(2013)
Nature
, vol.493
, pp. 327-337
-
-
Ebert, D.H.1
Greenberg, M.E.2
-
13
-
-
0027501283
-
The epidemiology of Asperger syndrome. A total population study
-
Ehlers, S., & Gillberg, C. (1993). The epidemiology of Asperger syndrome. A total population study. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 34, 1327-1350.
-
(1993)
Journal of Child Psychology and Psychiatry, and Allied Disciplines
, vol.34
, pp. 1327-1350
-
-
Ehlers, S.1
Gillberg, C.2
-
14
-
-
84866390941
-
RBFOX1 regulates both splicing and transcriptional networks in human neuronal development
-
Fogel, B. L., Wexler, E., Wahnich, A., Friedrich, T., Vijayendran, C., Gao, F.,. Geschwind, D. H. (2012). RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Human Molecular Genetics, 21, 4171-86. doi:10.1093/hmg/dds240
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 4171-4186
-
-
Fogel, B.L.1
Wexler, E.2
Wahnich, A.3
Friedrich, T.4
Vijayendran, C.5
Gao, F.6
Geschwind, D.H.7
-
15
-
-
84876515907
-
STRING v9.1: protein-protein interaction networks, with increased coverage and integration
-
Franceschini, A., Szklarczyk, D., Frankild, S., Kuhn, M., Simono vic, M., Roth, A., Jensen, L. J. (2013). STRING v9.1: protein-protein interaction networks, with increased coverage and integration. Nucleic Acids Research, 41, D808-15. doi:10.1093/nar/gks1094
-
(2013)
Nucleic Acids Research
, vol.41
, pp. D808-D815
-
-
Franceschini, A.1
Szklarczyk, D.2
Frankild, S.3
Kuhn, M.4
Simono vic, M.5
Roth, A.6
Jensen, L.J.7
-
16
-
-
84861035734
-
Oxidative stress-related biomarkers in autism: Systematic review and meta-analyses
-
Frustaci, A., Neri, M., Cesario, A., Adams, J. B., Domenici, E., Dalla Bernardina, B., & Bonassi, S. (2012). Oxidative stress-related biomarkers in autism: Systematic review and meta-analyses. Free Radical Biology and Medicine, 52, 2128-2141. doi:10.1016/j.freeradbiomed.2012.03.011
-
(2012)
Free Radical Biology and Medicine
, vol.52
, pp. 2128-2141
-
-
Frustaci, A.1
Neri, M.2
Cesario, A.3
Adams, J.B.4
Domenici, E.5
Dalla Bernardina, B.6
Bonassi, S.7
-
17
-
-
58149148226
-
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism
-
Gargus, J. J. (2009). Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism. Annals of the New York Academy of Sciences, 1151, 133-156. doi:10.1111/j.1749-6632.2008.03572.x
-
(2009)
Annals of the New York Academy of Sciences
, vol.1151
, pp. 133-156
-
-
Gargus, J.J.1
-
18
-
-
79959726422
-
The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain
-
Gehman, L. T., Stoilov, P., Maguire, J., Damianov, A., Lin, C.-H., Shiue, L., Black, D. L. (2011). The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain. Nature Genetics, 43, 706-711. doi:10.1038/ng.841
-
(2011)
Nature Genetics
, vol.43
, pp. 706-711
-
-
Gehman, L.T.1
Stoilov, P.2
Maguire, J.3
Damianov, A.4
Lin, C.-H.5
Shiue, L.6
Black, D.L.7
-
19
-
-
84865702862
-
Glutathione-Related Factors and Oxidative Stress in Autism, A Review
-
Ghanizadeh, A., Akhondzadeh, S., Hormozi, M., Makarem, A., Abotorabi-Zarchi, M., & Firoozabadi, A. (2012). Glutathione-Related Factors and Oxidative Stress in Autism, A Review. Current Medicinal Chemistry, 19, 4000-4005. doi:10.2174/092986712802002572
-
(2012)
Current Medicinal Chemistry
, vol.19
, pp. 4000-4005
-
-
Ghanizadeh, A.1
Akhondzadeh, S.2
Hormozi, M.3
Makarem, A.4
Abotorabi-Zarchi, M.5
Firoozabadi, A.6
-
20
-
-
79958035893
-
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
-
Gilman, S. R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011). Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron, 70, 898-907. doi:10.1016/j.neuron.2011.05.021
-
(2011)
Neuron
, vol.70
, pp. 898-907
-
-
Gilman, S.R.1
Iossifov, I.2
Levy, D.3
Ronemus, M.4
Wigler, M.5
Vitkup, D.6
-
21
-
-
84873731200
-
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
-
Girirajan, S., Dennis, M. Y., Baker, C., Malig, M., Coe, B. P., Campbell, C. D.,. Eichler, E. E. (2013). Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder. American Journal of Human Genetics, 92, 221-37. doi:10.1016/j.ajhg.2012.12.016
-
(2013)
American Journal of Human Genetics
, vol.92
, pp. 221-237
-
-
Girirajan, S.1
Dennis, M.Y.2
Baker, C.3
Malig, M.4
Coe, B.P.5
Campbell, C.D.6
Eichler, E.E.7
-
22
-
-
84879964832
-
Global increases in both common and rare copy number load associated with autism
-
Girirajan, S., Johnson, R. L., Tassone, F., Balciuniene, J., Katiyar, N., Fox, K., Selleck, S. B. (2013). Global increases in both common and rare copy number load associated with autism. Human Molecular Genetics, 22, 2870-80. doi:10.1093/hmg/ddt136
-
(2013)
Human Molecular Genetics
, vol.22
, pp. 2870-2880
-
-
Girirajan, S.1
Johnson, R.L.2
Tassone, F.3
Balciuniene, J.4
Katiyar, N.5
Fox, K.6
Selleck, S.B.7
-
23
-
-
84864506652
-
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways
-
Griswold, A. J., Ma, D., Cukier, H. N., Nations, L. D., Schmidt, M. aA., Chung, R.-H., Pericak-Vance, M. a. (2012). Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human Molecular Genetics, 21, 3513-23. doi:10.1093/hmg/dds164
-
(2012)
Human Molecular Genetics
, vol.21
, pp. 3513-3523
-
-
Griswold, A.J.1
Ma, D.2
Cukier, H.N.3
Nations, L.D.4
Schmidt, M.A.5
Chung, R.-H.6
Pericak-Vance, M.A.7
-
24
-
-
33751257500
-
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
-
Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V., Lyonnet, S., Philippe, A. (2006). Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. Journal of Medical Genetics, 43, 843-849. doi:10.1136/jmg.2006.043166
-
(2006)
Journal of Medical Genetics
, vol.43
, pp. 843-849
-
-
Jacquemont, M.-L.1
Sanlaville, D.2
Redon, R.3
Raoul, O.4
Cormier-Daire, V.5
Lyonnet, S.6
Philippe, A.7
-
25
-
-
68849131751
-
Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism
-
James, S. J., Rose, S., Melnyk, S., Jernigan, S., Blossom, S., Pavliv, O., & Gaylor, D. W. (2009). Cellular and mitochondrial glutathione redox imbalance in lymphoblastoid cells derived from children with autism. FASEB J, 23(8), 2374-2383. doi:10.1096/fj.08-128926
-
(2009)
FASEB J
, vol.23
, Issue.8
, pp. 2374-2383
-
-
James, S.J.1
Rose, S.2
Melnyk, S.3
Jernigan, S.4
Blossom, S.5
Pavliv, O.6
Gaylor, D.W.7
-
26
-
-
84887621488
-
The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population
-
Kanduri, C., Ukkola-Vuoti, L., Oikkonen, J., Buck, G., Blancher, C., Raijas, P., Karma, K., Lähdesmäki, H., Järvelä, I. (2013). The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population. European Journal of Human Genetics EJHG, 21, 1411-1416. doi:10.1038/ejhg.2013.60
-
(2013)
European Journal of Human Genetics EJHG
, vol.21
, pp. 1411-1416
-
-
Kanduri, C.1
Ukkola-Vuoti, L.2
Oikkonen, J.3
Buck, G.4
Blancher, C.5
Raijas, P.6
Karma, K.7
Lähdesmäki, H.8
Järvelä, I.9
-
27
-
-
38349191027
-
Association of DISC1 with autism and Asperger syndrome
-
Kilpinen, H., Ylisaukko-Oja, T., Hennah, W., Palo, O. M., Varilo, T., Vanhala, R., Peltonen, L. (2008). Association of DISC1 with autism and Asperger syndrome. Molecular Psychiatry, 13, 187-196. doi:10.1038/sj.mp.4002031
-
(2008)
Molecular Psychiatry
, vol.13
, pp. 187-196
-
-
Kilpinen, H.1
Ylisaukko-Oja, T.2
Hennah, W.3
Palo, O.M.4
Varilo, T.5
Vanhala, R.6
Peltonen, L.7
-
28
-
-
84863230195
-
Interplay between DISC1 and GABA signaling regulates neurogenesis in mice and risk for schizophrenia
-
Kim, J. Y., Liu, C. Y., Zhang, F., Duan, X., Wen, Z., Song, J., Ming, G. (2012). Interplay between DISC1 and GABA signaling regulates neurogenesis in mice and risk for schizophrenia. Cell, 148, 1051-1064. doi:10.1016/j.cell.2011.12.037
-
(2012)
Cell
, vol.148
, pp. 1051-1064
-
-
Kim, J.Y.1
Liu, C.Y.2
Zhang, F.3
Duan, X.4
Wen, Z.5
Song, J.6
Ming, G.7
-
29
-
-
84860814711
-
Genome-wide screen for metabolic syndrome susceptibility loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits
-
Kristiansson, K., Perola, M., Tikkanen, E., Kettunen, J., Surakka, I., Havulinna, A. S., Salomaa, V. (2012). Genome-wide screen for metabolic syndrome susceptibility loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. Circulation: Cardiovascular Genetics, 5, 242-249. doi:10.1161/CIRCGENETICS.111.961482
-
(2012)
Circulation: Cardiovascular Genetics
, vol.5
, pp. 242-249
-
-
Kristiansson, K.1
Perola, M.2
Tikkanen, E.3
Kettunen, J.4
Surakka, I.5
Havulinna, A.S.6
Salomaa, V.7
-
30
-
-
84885301258
-
Transmission Disequilibrium of Small CNVs in Simplex Autism
-
Krumm, N., O'Roak, B. J., Karakoc, E., Mohajeri, K., Nelson, B., Vives, L., Eichler, E. E. (2013). Transmission Disequilibrium of Small CNVs in Simplex Autism. American Journal of Human Genetics, 93, 595-606. doi:10.1016/j.ajhg.2013.07.024
-
(2013)
American Journal of Human Genetics
, vol.93
, pp. 595-606
-
-
Krumm, N.1
O'Roak, B.J.2
Karakoc, E.3
Mohajeri, K.4
Nelson, B.5
Vives, L.6
Eichler, E.E.7
-
31
-
-
78650512918
-
Identification of blood biomarkers for psychosis using convergent functional genomics
-
Kurian, S. M., Le-Niculescu, H., Patel, S. D., Bertram, D., Davis, J., Dike, C., Niculescu, A. B. (2011). Identification of blood biomarkers for psychosis using convergent functional genomics. Mol Psychiatry, 16(1), 37-58. doi:10.1038/mp.2009.117
-
(2011)
Mol Psychiatry
, vol.16
, Issue.1
, pp. 37-58
-
-
Kurian, S.M.1
Le-Niculescu, H.2
Patel, S.D.3
Bertram, D.4
Davis, J.5
Dike, C.6
Niculescu, A.B.7
-
32
-
-
79958133280
-
Convergent functional genomics of anxiety disorders: translational identification of genes, biomarkers, pathways and mechanisms
-
Le-Niculescu, H., Balaraman, Y., Patel, S. D., Ayalew, M., Gupta, J., Kuczenski, R., Niculescu, A. B. (2011). Convergent functional genomics of anxiety disorders: translational identification of genes, biomarkers, pathways and mechanisms. Translational Psychiatry, 1, e9, doi:10.1038/tp.2011.9
-
(2011)
Translational Psychiatry
, vol.1
, pp. e9
-
-
Le-Niculescu, H.1
Balaraman, Y.2
Patel, S.D.3
Ayalew, M.4
Gupta, J.5
Kuczenski, R.6
Niculescu, A.B.7
-
33
-
-
58549118937
-
Identifying blood biomarkers for mood disorders using convergent functional genomics
-
Le-Niculescu, H., Kurian, S. M., Yehyawi, N., Dike, C., Patel, S. D., Edenberg, H. J., Niculescu, A. B. (2009). Identifying blood biomarkers for mood disorders using convergent functional genomics. Mol Psychiatry, 14(2), 156-174. doi:10.1038/mp.2008.11
-
(2009)
Mol Psychiatry
, vol.14
, Issue.2
, pp. 156-174
-
-
Le-Niculescu, H.1
Kurian, S.M.2
Yehyawi, N.3
Dike, C.4
Patel, S.D.5
Edenberg, H.J.6
Niculescu, A.B.7
-
34
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
-
Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Bourgeron, T. (2012). Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genetics, 8, e1002521. doi:10.1371/journal.pgen.1002521
-
(2012)
PLoS Genetics
, vol.8
, pp. e1002521
-
-
Leblond, C.S.1
Heinrich, J.2
Delorme, R.3
Proepper, C.4
Betancur, C.5
Huguet, G.6
Bourgeron, T.7
-
35
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy, D., Ronemus, M., Yamrom, B., Lee, Y., Leotta, A., Kendall, J., Wigler, M. (2011). Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70, 886-897. doi:10.1016/j.neuron.2011.05.015
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.4
Leotta, A.5
Kendall, J.6
Wigler, M.7
-
36
-
-
84891783452
-
The database of genomic variants: a curated collection of structural variation in the human genome
-
Macdonald, J. R., Ziman, R., Yuen, R. K. C., Feuk, L., & Scherer, S. W. (2014). The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Research, 42, D986-992. doi:10.1093/nar/gkt958
-
(2014)
Nucleic Acids Research
, vol.42
, pp. D986-D992
-
-
Macdonald, J.R.1
Ziman, R.2
Yuen, R.K.C.3
Feuk, L.4
Scherer, S.W.5
-
37
-
-
84858434210
-
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
-
Malhotra, D., & Sebat, J. (2012). CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics. Cell, 148, 1223-1241. doi:10.1016/j.cell.2012.02.039
-
(2012)
Cell
, vol.148
, pp. 1223-1241
-
-
Malhotra, D.1
Sebat, J.2
-
38
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Scherer, S. W. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82, 477-488. doi:10.1016/j.ajhg.2007.12.009
-
(2008)
American Journal of Human Genetics
, 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
Scherer, S.W.7
-
39
-
-
84860722976
-
Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network
-
Morbidity and Mortal Weekly Report. (2012). Prevalence of autism spectrum disorders-autism and developmental disabilities monitoring network. Autism and Developmental Disabilities Monitoring (ADDM) Network, 61, 1-44. Retrieved from www.cdc.gov/ncbddd/autism/documents/ADDM-2012-Community-Report.pdf
-
(2012)
Autism and Developmental Disabilities Monitoring (ADDM) Network
, vol.61
, pp. 1-44
-
-
-
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., Daly, M. J. (2012). Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature, 485, 242-245. doi:10.1038/nature11011
-
(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
Daly, M.J.7
-
42
-
-
0037605877
-
Finnish disease heritage II: population prehistory and genetic roots of Finns
-
Norio, R. (2003). Finnish disease heritage II: population prehistory and genetic roots of Finns. Human Genetics, 112(5-6), 457-469. doi:10.1007/s00439-002-0876-2
-
(2003)
Human Genetics
, vol.112
, Issue.5-6
, pp. 457-469
-
-
Norio, R.1
-
43
-
-
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., Eichler, E. E. (2011). Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics, 43, 585-589. doi:10.1038/ng0412-471
-
(2011)
Nature Genetics
, 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
Eichler, E.E.7
-
44
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Eichler, E. E. (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485, 246-250. doi:10.1038/nature10989
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
Coe, B.P.6
Eichler, E.E.7
-
45
-
-
0032869123
-
Molecular genetics of the Finnish disease heritage
-
Peltonen, L., Jalanko, A., & Varilo, T. (1999). Molecular genetics of the Finnish disease heritage. Human Molecular Genetics, 8(10), 1913-1923.
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.10
, pp. 1913-1923
-
-
Peltonen, L.1
Jalanko, A.2
Varilo, T.3
-
46
-
-
33845987107
-
Lifetime prevalence of psychotic and bipolar I disorders in a general population
-
Perälä, J., Suvisaari, J., Saarni, S. I., Kuoppasalmi, K., Isometsä, E., Pirkola, S., Lönnqvist, J. (2007). Lifetime prevalence of psychotic and bipolar I disorders in a general population. Archives of General Psychiatry, 64, 19-28. doi:10.1001/archpsyc.64.1.19
-
(2007)
Archives of General Psychiatry
, vol.64
, pp. 19-28
-
-
Perälä, J.1
Suvisaari, J.2
Saarni, S.I.3
Kuoppasalmi, K.4
Isometsä, E.5
Pirkola, S.6
Lönnqvist, J.7
-
47
-
-
0036578794
-
Retinoid metabolism: a balancing act
-
Perlmann, T. (2002). Retinoid metabolism: a balancing act. Nature Genetics, 31(1), 7-8. doi:10.1038/ng877
-
(2002)
Nature Genetics
, vol.31
, Issue.1
, pp. 7-8
-
-
Perlmann, T.1
-
48
-
-
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., Betancur, C. (2010). Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372. doi:10.1038/nature09146
-
(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
Betancur, C.7
-
49
-
-
11244260723
-
DSM-IV mood-, anxiety- and alcohol use disorders and their comorbidity in the Finnish general population-results from the Health 2000 Study
-
Pirkola, S. P., Isometsä, E., Suvisaari, J., Aro, H., Joukamaa, M., Poikolainen, K., Lönnqvist, J. K. (2005). DSM-IV mood-, anxiety- and alcohol use disorders and their comorbidity in the Finnish general population-results from the Health 2000 Study. Social Psychiatry and Psychiatric Epidemiology, 40, 1-10. doi:10.1007/s00127-005-0848-7
-
(2005)
Social Psychiatry and Psychiatric Epidemiology
, vol.40
, pp. 1-10
-
-
Pirkola, S.P.1
Isometsä, E.2
Suvisaari, J.3
Aro, H.4
Joukamaa, M.5
Poikolainen, K.6
Lönnqvist, J.K.7
-
50
-
-
84885222459
-
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder
-
Poultney, C. S., Goldberg, A. P., Drapeau, E., Kou, Y., Harony-Nicolas, H., Kajiwara, Y., Buxbaum, J. D. (2013). Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. American Journal of Human Genetics, 93, 607-19. doi:10.1016/j.ajhg.2013.09.001
-
(2013)
American Journal of Human Genetics
, vol.93
, pp. 607-619
-
-
Poultney, C.S.1
Goldberg, A.P.2
Drapeau, E.3
Kou, Y.4
Harony-Nicolas, H.5
Kajiwara, Y.6
Buxbaum, J.D.7
-
51
-
-
84883171661
-
A discovery resource of rare copy number variations in individuals with autism spectrum disorder
-
Prasad, A., Merico, D., Thiruvahindrapuram, B., Wei, J., Lionel, A. C., Sato, D., Scherer, S. W. (2012). A discovery resource of rare copy number variations in individuals with autism spectrum disorder. G3 (Bethesda, Md.), 2, 1665-85. doi:10.1534/g3.112.004689
-
(2012)
G3 (Bethesda, Md.)
, vol.2
, pp. 1665-1685
-
-
Prasad, A.1
Merico, D.2
Thiruvahindrapuram, B.3
Wei, J.4
Lionel, A.C.5
Sato, D.6
Scherer, S.W.7
-
52
-
-
78049450213
-
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function
-
Raychaudhuri, S., Korn, J. M., McCarroll, S. A., Altshuler, D., Sklar, P., Purcell, S., & Daly, M. J. (2010). Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genetics, 6, e1001097. doi:10.1371/journal.pgen.1001097
-
(2010)
PLoS Genetics
, vol.6
, pp. e1001097
-
-
Raychaudhuri, S.1
Korn, J.M.2
McCarroll, S.A.3
Altshuler, D.4
Sklar, P.5
Purcell, S.6
Daly, M.J.7
-
53
-
-
84890087087
-
A new statistic for identifying batch effects in high-throughput genomic data that uses guided principal component analysis
-
Reese, S. E., Archer, K. J., Therneau, T. M., Atkinson, E. J., Vachon, C. M., de Andrade, M., Eckel-Passow, J. E. (2013). A new statistic for identifying batch effects in high-throughput genomic data that uses guided principal component analysis. Bioinformatics (Oxford, England), 29, 2877-83. doi:10.1093/bioinformatics/btt480
-
(2013)
Bioinformatics (Oxford, England)
, vol.29
, pp. 2877-2883
-
-
Reese, S.E.1
Archer, K.J.2
Therneau, T.M.3
Atkinson, E.J.4
Vachon, C.M.5
de Andrade, M.6
Eckel-Passow, J.E.7
-
54
-
-
84863736932
-
Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain
-
Rose, S., Melnyk, S., Pavliv, O., Bai, S., Nick, T. G., Frye, R. E., & James, S. J. (2012). Evidence of oxidative damage and inflammation associated with low glutathione redox status in the autism brain. Translational Psychiatry, 2, e134. doi:10.1038/tp.2012.61
-
(2012)
Translational Psychiatry
, vol.2
, pp. e134
-
-
Rose, S.1
Melnyk, S.2
Pavliv, O.3
Bai, S.4
Nick, T.G.5
Frye, R.E.6
James, S.J.7
-
55
-
-
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., State, M. W. (2011). Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70(5), 863-885. doi:S0896-6273(11)00374-6 [pii] 10.1016/j.neuron.2011.05.002
-
(2011)
Neuron
, vol.70
, Issue.5
, 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
State, M.W.7
-
56
-
-
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., State, M. W. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature, 485, 237-241. doi:10.1038/nature10945
-
(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
State, M.W.7
-
57
-
-
79959981749
-
Risk factors for autism: translating genomic discoveries into diagnostics
-
Scherer, S. W., & Dawson, G. (2011). Risk factors for autism: translating genomic discoveries into diagnostics. Human Genetics, 130, 123-148. doi:10.1007/s00439-011-1037-2
-
(2011)
Human Genetics
, vol.130
, pp. 123-148
-
-
Scherer, S.W.1
Dawson, G.2
-
58
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Wigler, M. (2007). Strong association of de novo copy number mutations with autism. Science, 316(5823), 445-449. doi:10.1126/science.1138659
-
(2007)
Science
, vol.316
, Issue.5823
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
Troge, J.4
Lese-Martin, C.5
Walsh, T.6
Wigler, M.7
-
59
-
-
4544301223
-
Polymorphisms in xenobiotic metabolism genes and autism
-
Serajee, F. J., Nabi, R., Zhong, H., & Huq, M. (2004). Polymorphisms in xenobiotic metabolism genes and autism. Journal of Child Neurology, 19(6), 413-417. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15446388
-
(2004)
Journal of Child Neurology
, vol.19
, Issue.6
, pp. 413-417
-
-
Serajee, F.J.1
Nabi, R.2
Zhong, H.3
Huq, M.4
-
60
-
-
81355150792
-
Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development
-
Singh, K. K., De Rienzo, G., Drane, L., Mao, Y., Flood, Z., Madison, J., Tsai, L.-H. (2011). Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development. Neuron, 72, 545-558. doi:10.1016/j.neuron.2011.09.030
-
(2011)
Neuron
, vol.72
, pp. 545-558
-
-
Singh, K.K.1
Rienzo, D.2
Drane, G.3
Mao, L.4
Flood, Y.5
Madison, Z.6
Tsai, L.-H.7
-
61
-
-
82255192290
-
The conundrums of understanding genetic risks for autism spectrum disorders
-
State, M. W., & Levitt, P. (2011). The conundrums of understanding genetic risks for autism spectrum disorders. Nature Neuroscience, 14, 1499-1506. doi:10.1038/nn.2924
-
(2011)
Nature Neuroscience
, vol.14
, pp. 1499-1506
-
-
State, M.W.1
Levitt, P.2
-
62
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
Stone, J. L., O'Donovan, M. C., Gurling, H., Kirov, G. K., Blackwood, D. H. R., Corvin, A., Ardlie, K. (2008). Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature, 455, 237-241. doi:10.1038/nature07239
-
(2008)
Nature
, vol.455
, pp. 237-241
-
-
Stone, J.L.1
O'Donovan, M.C.2
Gurling, H.3
Kirov, G.K.4
Blackwood, D.H.R.5
Corvin, A.6
Ardlie, K.7
-
63
-
-
15244352734
-
Calcium dysregulation, IP3 signaling, and Alzheimer's disease
-
Stutzmann, G. E. (2005). Calcium dysregulation, IP3 signaling, and Alzheimer's disease. The Neuroscientist: A Review Journal Bringing Neurobiology, Neurology and Psychiatry, 11, 110-115. doi:10.1177/1073858404270899
-
(2005)
The Neuroscientist: A Review Journal Bringing Neurobiology, Neurology and Psychiatry
, vol.11
, pp. 110-115
-
-
Stutzmann, G.E.1
-
64
-
-
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., Meyer, K. J. (2007). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics, 39, 319-328. doi:10.1038/ng1985
-
(2007)
Nature Genetics
, 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
Meyer, K.J.7
-
65
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Sebat, J. (2008). Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science, 320(5875), 539-543. doi: 10.1126/science.1155174
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
Addington, A.M.4
Pierce, S.B.5
Cooper, G.M.6
Sebat, J.7
-
66
-
-
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., Hadley, D., Liu, R., Glessner, J., Grant, S. F., Bucan, M. (2007). PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Research, 17(11), 1665-1674. doi: 10.1101/gr.6861907
-
(2007)
Genome Research
, vol.17
, Issue.11
, pp. 1665-1674
-
-
Wang, K.1
Li, M.2
Hadley, D.3
Liu, R.4
Glessner, J.5
Grant, S.F.6
Bucan, M.7
-
67
-
-
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., Hakonarson, H. (2009). Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature, 459, 528-533. doi:10.1038/nature07999
-
(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
Hakonarson, H.7
-
68
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss, L. A., Arking, D. E., Daly, M. J., & Chakravarti, A. (2009). A genome-wide linkage and association scan reveals novel loci for autism. Nature, 461, 802-808. doi:10.1038/nature08490
-
(2009)
Nature
, vol.461
, pp. 802-808
-
-
Weiss, L.A.1
Arking, D.E.2
Daly, M.J.3
Chakravarti, A.4
-
69
-
-
78049303903
-
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis
-
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Thapar, A. (2010). Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet, 376, 1401-1408. doi:10.1016/S0140-6736(10)61109-9
-
(2010)
Lancet
, vol.376
, pp. 1401-1408
-
-
Williams, N.M.1
Zaharieva, I.2
Martin, A.3
Langley, K.4
Mantripragada, K.5
Fossdal, R.6
Thapar, A.7
-
70
-
-
84893664908
-
The ICD-10 Classification of Mental and Behavioural Disorders
-
World Health Organization. (1992). The ICD-10 Classification of Mental and Behavioural Disorders. International Classification, 10, 1-267. doi:10.1002/1520-6505(2000)9:5<201::AID-EVAN2>3.3.CO;2-P
-
(1992)
International Classification
, vol.10
, pp. 1-267
-
-
-
71
-
-
1542376929
-
Glutathione metabolism and its implications for health
-
Wu, G., Fang, Y. Z., Yang, S., Lupton, J. R., & Turner, N. D. (2004). Glutathione metabolism and its implications for health. Journal of Nutrition, 134(3), 489-492. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14988435
-
(2004)
Journal of Nutrition
, vol.134
, Issue.3
, pp. 489-492
-
-
Wu, G.1
Fang, Y.Z.2
Yang, S.3
Lupton, J.R.4
Turner, N.D.5
-
72
-
-
84862224852
-
AutismKB: an evidence-based knowledgebase of autism genetics
-
Xu, L.-M., Li, J.-R., Huang, Y., Zhao, M., Tang, X., & Wei, L. (2012). AutismKB: an evidence-based knowledgebase of autism genetics. Nucleic Acids Research, 40, D1016-22. doi:10.1093/nar/gkr1145
-
(2012)
Nucleic Acids Research
, vol.40
, pp. D1016-D1022
-
-
Xu, L.-M.1
Li, J.-R.2
Huang, Y.3
Zhao, M.4
Tang, X.5
Wei, L.6
-
73
-
-
38649091333
-
A navigator for human genome epidemiology
-
Yu, W., Gwinn, M., Clyne, M., Yesupriya, A., & Khoury, M. J. (2008). A navigator for human genome epidemiology. Nature Genetics, 40, 124-125. doi:10.1038/ng0208-124
-
(2008)
Nature Genetics
, vol.40
, pp. 124-125
-
-
Yu, W.1
Gwinn, M.2
Clyne, M.3
Yesupriya, A.4
Khoury, M.J.5
|