-
1
-
-
84862160222
-
Global prevalence of autism and other pervasive developmental disorders
-
Elsabbagh M, Divan G, Koh YJ, et al. Global prevalence of autism and other pervasive developmental disorders. Autism Res 2012, 5:160-179.
-
(2012)
Autism Res
, vol.5
, pp. 160-179
-
-
Elsabbagh, M.1
Divan, G.2
Koh, Y.J.3
-
2
-
-
84920646431
-
Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders
-
Kim YS, Leventhal BL Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. Biol Psychiatry 2015, 77:66-74.
-
(2015)
Biol Psychiatry
, vol.77
, pp. 66-74
-
-
Kim, Y.S.1
Leventhal, B.L.2
-
3
-
-
84897126113
-
Psychiatric disorders: diagnosis to therapy
-
Krystal JH, State MW Psychiatric disorders: diagnosis to therapy. Cell 2014, 157:201-214.
-
(2014)
Cell
, vol.157
, pp. 201-214
-
-
Krystal, J.H.1
State, M.W.2
-
4
-
-
84975795680
-
An integrated map of genetic variation from 1,092 human genomes
-
Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012, 491:56-65. 1000 Genomes Project Consortium.
-
(2012)
Nature
, vol.491
, pp. 56-65
-
-
Abecasis, G.R.1
Auton, A.2
-
5
-
-
84874773677
-
Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency
-
Kiezun A, Pulit SL, Francioli LC, et al. Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency. PLoS Genet 2013, 9:e1003301.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003301
-
-
Kiezun, A.1
Pulit, S.L.2
Francioli, L.C.3
-
6
-
-
84876383766
-
New genes and new insights from old genes: update on Alzheimer disease
-
Ringman JM, Coppola G New genes and new insights from old genes: update on Alzheimer disease. Continuum (Minneap Minn) 2013, 19:358-371.
-
(2013)
Continuum (Minneap Minn)
, vol.19
, pp. 358-371
-
-
Ringman, J.M.1
Coppola, G.2
-
7
-
-
84906858173
-
Age-related macular degeneration: genetics and biology coming together
-
Fritsche LG, Fariss RN, Stambolian D, Abecasis GR, Curcio CA, Swaroop A Age-related macular degeneration: genetics and biology coming together. Annu Rev Genomics Hum Genet 2014, 15:151-171.
-
(2014)
Annu Rev Genomics Hum Genet
, vol.15
, pp. 151-171
-
-
Fritsche, L.G.1
Fariss, R.N.2
Stambolian, D.3
Abecasis, G.R.4
Curcio, C.A.5
Swaroop, A.6
-
8
-
-
84984932946
-
Population genetics-making sense out of sequence
-
Chakravarti A Population genetics-making sense out of sequence. Nat Genet 1999, 21(1 Suppl):56-60.
-
(1999)
Nat Genet
, vol.21
, Issue.1
, pp. 56-60
-
-
Chakravarti, A.1
-
9
-
-
0029805706
-
The new genomics: global views of biology
-
Lander ES The new genomics: global views of biology. Science 1996, 274:536-539.
-
(1996)
Science
, vol.274
, pp. 536-539
-
-
Lander, E.S.1
-
10
-
-
0033362024
-
A genomic screen of autism: evidence for a multilocus etiology
-
Risch N, Spiker D, Lotspeich L, et al. A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 1999, 65:493-507.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 493-507
-
-
Risch, N.1
Spiker, D.2
Lotspeich, L.3
-
11
-
-
54549086639
-
Autism: many genes, common pathways?
-
Geschwind DH Autism: many genes, common pathways?. Cell 2008, 135:391-395.
-
(2008)
Cell
, vol.135
, pp. 391-395
-
-
Geschwind, D.H.1
-
12
-
-
84871298155
-
Common genetic variants, acting additively, are a major source of risk for autism
-
Klei L, Sanders SJ, Murtha MT, et al. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism 2012, 3:9.
-
(2012)
Mol Autism
, vol.3
, pp. 9
-
-
Klei, L.1
Sanders, S.J.2
Murtha, M.T.3
-
13
-
-
84905582433
-
Most genetic risk for autism resides with common variation
-
Gaugler T, Klei L, Sanders SJ, et al. Most genetic risk for autism resides with common variation. Nat Genet 2014, 46:881-885.
-
(2014)
Nat Genet
, vol.46
, pp. 881-885
-
-
Gaugler, T.1
Klei, L.2
Sanders, S.J.3
-
14
-
-
42349095075
-
Advances in autism genetics: on the threshold of a new neurobiology
-
Abrahams BS, Geschwind DH Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet 2008, 9:341-355.
-
(2008)
Nat Rev Genet
, vol.9
, pp. 341-355
-
-
Abrahams, B.S.1
Geschwind, D.H.2
-
15
-
-
83655167240
-
Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century
-
Sucksmith E, Roth I, Hoekstra RA Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century. Neuropsychol Rev 2011, 21:360-389.
-
(2011)
Neuropsychol Rev
, vol.21
, pp. 360-389
-
-
Sucksmith, E.1
Roth, I.2
Hoekstra, R.A.3
-
16
-
-
79954571673
-
The quantitative nature of autistic social impairment
-
Constantino JN The quantitative nature of autistic social impairment. Pediatr Res 2011, 69:55R-62R.
-
(2011)
Pediatr Res
, vol.69
, pp. 55R-62R
-
-
Constantino, J.N.1
-
17
-
-
84899784475
-
The familial risk of autism
-
Sandin S, Lichtenstein P, Kuja-Halkola R, Larsson H, Hultman CM, Reichenberg A The familial risk of autism. JAMA 2014, 311:1770-1777.
-
(2014)
JAMA
, vol.311
, pp. 1770-1777
-
-
Sandin, S.1
Lichtenstein, P.2
Kuja-Halkola, R.3
Larsson, H.4
Hultman, C.M.5
Reichenberg, A.6
-
18
-
-
78349291914
-
Sibling recurrence and the genetic epidemiology of autism
-
Constantino JN, Zhang Y, Frazier T, Abbacchi AM, Law P Sibling recurrence and the genetic epidemiology of autism. Am J Psychiatry 2010, 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
-
19
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss LA, Arking DE, Daly MJ, Chakravarti A A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009, 461:802-808. Gene Discovery Project of Johns Hopkins & the Autism Consortium.
-
(2009)
Nature
, vol.461
, pp. 802-808
-
-
Weiss, L.A.1
Arking, D.E.2
Daly, M.J.3
Chakravarti, A.4
-
20
-
-
84895925000
-
Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder
-
Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Mol Autism 2014, 5:13.
-
(2014)
Mol Autism
, vol.5
, pp. 13
-
-
Werling, D.M.1
Lowe, J.K.2
Luo, R.3
Cantor, R.M.4
Geschwind, D.H.5
-
21
-
-
8844244724
-
Evidence for sex-specific risk alleles in autism spectrum disorder
-
Stone JL, Merriman B, Cantor RM, et al. Evidence for sex-specific risk alleles in autism spectrum disorder. Am J Hum Genet 2004, 75:1117-1123.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 1117-1123
-
-
Stone, J.L.1
Merriman, B.2
Cantor, R.M.3
-
22
-
-
84923872518
-
Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8
-
Lowe JK, Werling DM, Constantino JN, Cantor RM, Geschwind DH Social responsiveness, an autism endophenotype: genomewide significant linkage to two regions on chromosome 8. Am J Psychiatry 2015, 172:266-275.
-
(2015)
Am J Psychiatry
, vol.172
, pp. 266-275
-
-
Lowe, J.K.1
Werling, D.M.2
Constantino, J.N.3
Cantor, R.M.4
Geschwind, D.H.5
-
23
-
-
84873057188
-
QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders
-
Lu AT, Yoon J, Geschwind DH, Cantor RM QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders. Mol Psychiatry 2013, 18:226-235.
-
(2013)
Mol Psychiatry
, vol.18
, pp. 226-235
-
-
Lu, A.T.1
Yoon, J.2
Geschwind, D.H.3
Cantor, R.M.4
-
24
-
-
38749140677
-
Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene
-
Alarcón M, Abrahams BS, Stone JL, et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008, 82:150-159.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 150-159
-
-
Alarcón, M.1
Abrahams, B.S.2
Stone, J.L.3
-
25
-
-
84867829870
-
Individual common variants exert weak effects on the risk for autism spectrum disorders
-
Anney R, Klei L, Pinto D, et al. Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 2012, 21:4781-4792.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4781-4792
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
-
26
-
-
84893725555
-
Arguments for the sake of endophenotypes: examining common misconceptions about the use of endophenotypes in psychiatric genetics
-
Glahn DC, Knowles EE, McKay DR, et al. Arguments for the sake of endophenotypes: examining common misconceptions about the use of endophenotypes in psychiatric genetics. Am J Med Genet B Neuropsychiatr Genet 2014, 165B:122-130.
-
(2014)
Am J Med Genet B Neuropsychiatr Genet
, vol.165B
, pp. 122-130
-
-
Glahn, D.C.1
Knowles, E.E.2
McKay, D.R.3
-
27
-
-
67650732715
-
Advances in autism
-
Geschwind DH Advances in autism. Annu Rev Med 2009, 60:367-380.
-
(2009)
Annu Rev Med
, vol.60
, pp. 367-380
-
-
Geschwind, D.H.1
-
28
-
-
0036138102
-
Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families
-
Alarcón M, Cantor RM, Liu J, Gilliam TC, Geschwind DH Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families. Am J Hum Genet 2002, 70:60-71. Autism Genetic Research Exchange Consortium.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 60-71
-
-
Alarcón, M.1
Cantor, R.M.2
Liu, J.3
Gilliam, T.C.4
Geschwind, D.H.5
-
29
-
-
84920658472
-
Discovering schizophrenia endophenotypes in randomly ascertained pedigrees
-
Glahn DC, Williams JT, McKay DR, et al. Discovering schizophrenia endophenotypes in randomly ascertained pedigrees. Biol Psychiatry 2015, 77:75-83.
-
(2015)
Biol Psychiatry
, vol.77
, pp. 75-83
-
-
Glahn, D.C.1
Williams, J.T.2
McKay, D.R.3
-
30
-
-
79958067224
-
CNTNAP2 variants affect early language development in the general population
-
Whitehouse AJ, Bishop DV, Ang QW, Pennell CE, Fisher SE CNTNAP2 variants affect early language development in the general population. Genes Brain Behav 2011, 10:451-456.
-
(2011)
Genes Brain Behav
, vol.10
, pp. 451-456
-
-
Whitehouse, A.J.1
Bishop, D.V.2
Ang, Q.W.3
Pennell, C.E.4
Fisher, S.E.5
-
31
-
-
57149090343
-
A functional genetic link between distinct developmental language disorders
-
Vernes SC, Newbury DF, Abrahams BS, et al. A functional genetic link between distinct developmental language disorders. N Engl J Med 2008, 359:2337-2345.
-
(2008)
N Engl J Med
, vol.359
, pp. 2337-2345
-
-
Vernes, S.C.1
Newbury, D.F.2
Abrahams, B.S.3
-
32
-
-
34249943502
-
Autistic traits in a population-based ADHD twin sample
-
Reiersen AM, Constantino JN, Volk HE, Todd RD Autistic traits in a population-based ADHD twin sample. J Child Psychol Psychiatry 2007, 48:464-472.
-
(2007)
J Child Psychol Psychiatry
, vol.48
, pp. 464-472
-
-
Reiersen, A.M.1
Constantino, J.N.2
Volk, H.E.3
Todd, R.D.4
-
33
-
-
0141539482
-
Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised
-
Constantino JN, Davis SA, Todd RD, et al. Validation of a brief quantitative measure of autistic traits: comparison of the social responsiveness scale with the autism diagnostic interview-revised. J Autism Dev Disord 2003, 33:427-433.
-
(2003)
J Autism Dev Disord
, vol.33
, pp. 427-433
-
-
Constantino, J.N.1
Davis, S.A.2
Todd, R.D.3
-
34
-
-
77956390384
-
Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees
-
Coon H, Villalobos ME, Robison RJ, et al. Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees. Mol Autism 2010, 1:8.
-
(2010)
Mol Autism
, vol.1
, pp. 8
-
-
Coon, H.1
Villalobos, M.E.2
Robison, R.J.3
-
35
-
-
34247507349
-
A quantitative trait locus analysis of social responsiveness in multiplex autism families
-
Duvall JA, Lu A, Cantor RM, Todd RD, Constantino JN, Geschwind DH A quantitative trait locus analysis of social responsiveness in multiplex autism families. Am J Psychiatry 2007, 164:656-662.
-
(2007)
Am J Psychiatry
, vol.164
, pp. 656-662
-
-
Duvall, J.A.1
Lu, A.2
Cantor, R.M.3
Todd, R.D.4
Constantino, J.N.5
Geschwind, D.H.6
-
36
-
-
84926358552
-
A genome-wide association study of autism using the Simons Simplex Collection: does reducing phenotypic heterogeneity in autism increase genetic homogeneity?
-
published online Sept 29.
-
Chaste P, Klei L, Sanders SJ, et al. A genome-wide association study of autism using the Simons Simplex Collection: does reducing phenotypic heterogeneity in autism increase genetic homogeneity?. Biol Psychiatry 2014, published online Sept 29. http://dx.doi.org/10.1016/j.biopsych.2014.09.017.
-
(2014)
Biol Psychiatry
-
-
Chaste, P.1
Klei, L.2
Sanders, S.J.3
-
37
-
-
77957735529
-
A genome-wide scan for common alleles affecting risk for autism
-
Anney R, Klei L, Pinto D, et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010, 19:4072-4082.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4072-4082
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
-
38
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang K, Zhang H, Ma D, et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009, 459:528-533.
-
(2009)
Nature
, vol.459
, pp. 528-533
-
-
Wang, K.1
Zhang, H.2
Ma, D.3
-
39
-
-
84883465830
-
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
-
Lee SH, Ripke S, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet 2013, 45:984-994. Cross-Disorder Group of the Psychiatric Genomics Consortium.
-
(2013)
Nat Genet
, vol.45
, pp. 984-994
-
-
Lee, S.H.1
Ripke, S.2
-
40
-
-
84904804929
-
Biological insights from 108 schizophrenia-associated genetic loci
-
Biological insights from 108 schizophrenia-associated genetic loci. Nature 2014, 511:421-427. Schizophrenia Working Group of the Psychiatric Genomics Consortium.
-
(2014)
Nature
, vol.511
, pp. 421-427
-
-
-
41
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain S, Quach H, Betancur C, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003, 34:27-29.
-
(2003)
Nat Genet
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
-
42
-
-
33845889998
-
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders
-
Durand CM, Betancur C, Boeckers TM, et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 2007, 39:25-27.
-
(2007)
Nat Genet
, vol.39
, pp. 25-27
-
-
Durand, C.M.1
Betancur, C.2
Boeckers, T.M.3
-
43
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
-
Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006, 354:1370-1377.
-
(2006)
N Engl J Med
, vol.354
, pp. 1370-1377
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Huentelman, M.J.3
-
44
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
-
(2004)
Science
, vol.305
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
-
45
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951.
-
(2004)
Nat Genet
, vol.36
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
-
46
-
-
33751257500
-
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
-
Jacquemont ML, Sanlaville D, Redon R, et al. Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet 2006, 43:843-849.
-
(2006)
J Med Genet
, vol.43
, pp. 843-849
-
-
Jacquemont, M.L.1
Sanlaville, D.2
Redon, R.3
-
47
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
Sebat J, Lakshmi B, Malhotra D, et al. Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
Lakshmi, B.2
Malhotra, D.3
-
48
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Szatmari P, Paterson AD, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007, 39:319-328. Autism Genome Project Consortium.
-
(2007)
Nat Genet
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
-
49
-
-
36749040875
-
Contribution of SHANK3 mutations to autism spectrum disorder
-
Moessner R, Marshall CR, Sutcliffe JS, et al. Contribution of SHANK3 mutations to autism spectrum disorder. Am J Hum Genet 2007, 81:1289-1297.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1289-1297
-
-
Moessner, R.1
Marshall, C.R.2
Sutcliffe, J.S.3
-
50
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008, 358:667-675.
-
(2008)
N Engl J Med
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
51
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008, 82:477-488.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
-
52
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar RA, KaraMohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008, 17:628-638.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
KaraMohamed, S.2
Sudi, J.3
-
53
-
-
84858434210
-
CNVs: harbingers of a rare variant revolution in psychiatric genetics
-
Malhotra D, Sebat J CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell 2012, 148:1223-1241.
-
(2012)
Cell
, vol.148
, pp. 1223-1241
-
-
Malhotra, D.1
Sebat, J.2
-
54
-
-
84922394049
-
A framework for the interpretation of de novo mutation in human disease
-
Samocha KE, Robinson EB, Sanders SJ, et al. A framework for the interpretation of de novo mutation in human disease. Nat Genet 2014, 46:944-950.
-
(2014)
Nat Genet
, vol.46
, pp. 944-950
-
-
Samocha, K.E.1
Robinson, E.B.2
Sanders, S.J.3
-
55
-
-
79958074870
-
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
-
Sanders SJ, Ercan-Sencicek AG, Hus V, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011, 70:863-885.
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
-
56
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis S, He X, Goldberg AP, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014, 515:209-215.
-
(2014)
Nature
, vol.515
, pp. 209-215
-
-
De Rubeis, S.1
He, X.2
Goldberg, A.P.3
-
57
-
-
84907982955
-
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
-
Dong S, Walker MF, Carriero NJ, et al. De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Rep 2014, 9:16-23.
-
(2014)
Cell Rep
, vol.9
, pp. 16-23
-
-
Dong, S.1
Walker, M.F.2
Carriero, N.J.3
-
58
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
Iossifov I, O'Roak BJ, Sanders SJ, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014, 515:216-221.
-
(2014)
Nature
, vol.515
, pp. 216-221
-
-
Iossifov, I.1
O'Roak, B.J.2
Sanders, S.J.3
-
59
-
-
84889583293
-
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
-
Willsey AJ, Sanders SJ, Li M, et al. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell 2013, 155:997-1007.
-
(2013)
Cell
, vol.155
, pp. 997-1007
-
-
Willsey, A.J.1
Sanders, S.J.2
Li, M.3
-
60
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov I, Ronemus M, Levy D, et al. De novo gene disruptions in children on the autistic spectrum. Neuron 2012, 74:285-299.
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
Ronemus, M.2
Levy, D.3
-
61
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale BM, Kou Y, Liu L, et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 2012, 485:242-245.
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
-
62
-
-
84923328885
-
Recurrent de novo mutations implicate novel genes underlying simplex autism risk
-
O'Roak BJ, Stessman HA, Boyle EA, et al. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nat Commun 2014, 5:5595.
-
(2014)
Nat Commun
, vol.5
, pp. 5595
-
-
O'Roak, B.J.1
Stessman, H.A.2
Boyle, E.A.3
-
63
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak BJ, Vives L, Girirajan S, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012, 485:246-250.
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
-
64
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 2011, 43:585-589.
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
-
65
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders SJ, Murtha MT, Gupta AR, et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 2012, 485:237-241.
-
(2012)
Nature
, vol.485
, pp. 237-241
-
-
Sanders, S.J.1
Murtha, M.T.2
Gupta, A.R.3
-
66
-
-
79959262465
-
Transcriptomic analysis of autistic brain reveals convergent molecular pathology
-
Voineagu I, Wang X, Johnston P, et al. Transcriptomic analysis of autistic brain reveals convergent molecular pathology. Nature 2011, 474:380-384.
-
(2011)
Nature
, vol.474
, pp. 380-384
-
-
Voineagu, I.1
Wang, X.2
Johnston, P.3
-
67
-
-
84889561601
-
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
-
Parikshak NN, Luo R, Zhang A, et al. Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism. Cell 2013, 155:1008-1021.
-
(2013)
Cell
, vol.155
, pp. 1008-1021
-
-
Parikshak, N.N.1
Luo, R.2
Zhang, A.3
-
68
-
-
79958035893
-
Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses
-
Gilman SR, Iossifov I, Levy D, Ronemus M, Wigler M, Vitkup D Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. Neuron 2011, 70:898-907.
-
(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
-
69
-
-
84892720695
-
Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders
-
Xu X, Wells AB, O'Brien DR, Nehorai A, Dougherty JD Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders. J Neurosci 2014, 34:1420-1431.
-
(2014)
J Neurosci
, vol.34
, pp. 1420-1431
-
-
Xu, X.1
Wells, A.B.2
O'Brien, D.R.3
Nehorai, A.4
Dougherty, J.D.5
-
70
-
-
80053540965
-
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
-
Peñagarikano O, Abrahams BS, Herman EI, et al. Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 2011, 147:235-246.
-
(2011)
Cell
, vol.147
, pp. 235-246
-
-
Peñagarikano, O.1
Abrahams, B.S.2
Herman, E.I.3
-
71
-
-
84921792372
-
Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism
-
Peñagarikano O, Lazaro MT, Lu XH, et al. Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism. Sci Transl Med 2015, 7:271ra278.
-
(2015)
Sci Transl Med
, vol.7
, pp. 271ra278
-
-
Peñagarikano, O.1
Lazaro, M.T.2
Lu, X.H.3
-
72
-
-
84924371272
-
No evidence for association of autism with rare heterozygous point mutations in contactin-associated protein-like 2 (CNTNAP2), or in other contactin-associated proteins or contactins
-
Murdoch JD, Gupta AR, Sanders SJ, et al. No evidence for association of autism with rare heterozygous point mutations in contactin-associated protein-like 2 (CNTNAP2), or in other contactin-associated proteins or contactins. PLoS Genet 2015, 11:e1004852.
-
(2015)
PLoS Genet
, vol.11
, pp. e1004852
-
-
Murdoch, J.D.1
Gupta, A.R.2
Sanders, S.J.3
-
73
-
-
47249088331
-
Identifying autism loci and genes by tracing recent shared ancestry
-
Morrow EM, Yoo SY, Flavell SW, et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008, 321:218-223.
-
(2008)
Science
, vol.321
, pp. 218-223
-
-
Morrow, E.M.1
Yoo, S.Y.2
Flavell, S.W.3
-
74
-
-
84867687830
-
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
-
Novarino G, El-Fishawy P, Kayserili H, et al. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012, 338:394-397.
-
(2012)
Science
, vol.338
, pp. 394-397
-
-
Novarino, G.1
El-Fishawy, P.2
Kayserili, H.3
-
75
-
-
84894589475
-
Genes for endosomal NHE6 and NHE9 are misregulated in autism brains
-
Schwede M, Garbett K, Mirnics K, Geschwind DH, Morrow EM Genes for endosomal NHE6 and NHE9 are misregulated in autism brains. Mol Psychiatry 2014, 19:277-279.
-
(2014)
Mol Psychiatry
, vol.19
, pp. 277-279
-
-
Schwede, M.1
Garbett, K.2
Mirnics, K.3
Geschwind, D.H.4
Morrow, E.M.5
-
77
-
-
84872696957
-
Using whole-exome sequencing to identify inherited causes of autism
-
Yu TW, Chahrour MH, Coulter ME, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron 2013, 77:259-273.
-
(2013)
Neuron
, vol.77
, pp. 259-273
-
-
Yu, T.W.1
Chahrour, M.H.2
Coulter, M.E.3
-
78
-
-
84872722295
-
Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
-
Lim ET, Raychaudhuri S, Sanders SJ, et al. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron 2013, 77:235-242.
-
(2013)
Neuron
, vol.77
, pp. 235-242
-
-
Lim, E.T.1
Raychaudhuri, S.2
Sanders, S.J.3
-
79
-
-
84884620245
-
Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
-
He X, Sanders SJ, Liu L, et al. Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes. PLoS Genet 2013, 9:e1003671.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003671
-
-
He, X.1
Sanders, S.J.2
Liu, L.3
-
80
-
-
84920646314
-
Leveraging genetics and genomics to define the causes of mental illness
-
State MW, Geschwind DH Leveraging genetics and genomics to define the causes of mental illness. Biol Psychiatry 2015, 77:3-5.
-
(2015)
Biol Psychiatry
, vol.77
, pp. 3-5
-
-
State, M.W.1
Geschwind, D.H.2
-
82
-
-
0242300623
-
Postnatal neurodevelopmental disorders: meeting at the synapse?
-
Zoghbi HY Postnatal neurodevelopmental disorders: meeting at the synapse?. Science 2003, 302:826-830.
-
(2003)
Science
, vol.302
, pp. 826-830
-
-
Zoghbi, H.Y.1
-
83
-
-
84884669130
-
Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism
-
Ben-David E, Shifman S Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism. Mol Psychiatry 2013, 18:1054-1056.
-
(2013)
Mol Psychiatry
, vol.18
, pp. 1054-1056
-
-
Ben-David, E.1
Shifman, S.2
-
84
-
-
84859241496
-
Networks of neuronal genes affected by common and rare variants in autism spectrum disorders
-
Ben-David E, Shifman S Networks of neuronal genes affected by common and rare variants in autism spectrum disorders. PLoS Genet 2012, 8:e1002556.
-
(2012)
PLoS Genet
, vol.8
, pp. e1002556
-
-
Ben-David, E.1
Shifman, S.2
-
85
-
-
84890551041
-
Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism
-
Jones W, Klin A Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature 2013, 504:427-431.
-
(2013)
Nature
, vol.504
, pp. 427-431
-
-
Jones, W.1
Klin, A.2
-
86
-
-
80054993342
-
Spatio-temporal transcriptome of the human brain
-
Kang HJ, Kawasawa YI, Cheng F, et al. Spatio-temporal transcriptome of the human brain. Nature 2011, 478:483-489.
-
(2011)
Nature
, vol.478
, pp. 483-489
-
-
Kang, H.J.1
Kawasawa, Y.I.2
Cheng, F.3
-
87
-
-
77949411446
-
Adult reversal of cognitive phenotypes in neurodevelopmental disorders
-
Silva AJ, Ehninger D Adult reversal of cognitive phenotypes in neurodevelopmental disorders. J Neurodev Disord 2009, 1:150-157.
-
(2009)
J Neurodev Disord
, vol.1
, pp. 150-157
-
-
Silva, A.J.1
Ehninger, D.2
-
88
-
-
84862659562
-
Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
-
Zoghbi HY, Bear MF Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities. Cold Spring Harb Perspect Biol 2012, 4:a009886.
-
(2012)
Cold Spring Harb Perspect Biol
, vol.4
, pp. a009886
-
-
Zoghbi, H.Y.1
Bear, M.F.2
-
89
-
-
84893844183
-
Disentangling the heterogeneity of autism spectrum disorder through genetic findings
-
Jeste SS, Geschwind DH Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nat Rev Neurol 2014, 10:74-81.
-
(2014)
Nat Rev Neurol
, vol.10
, pp. 74-81
-
-
Jeste, S.S.1
Geschwind, D.H.2
-
90
-
-
84884675916
-
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
-
Moreno-De-Luca D, Sanders SJ, Willsey AJ, et al. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry 2013, 18:1090-1095.
-
(2013)
Mol Psychiatry
, vol.18
, pp. 1090-1095
-
-
Moreno-De-Luca, D.1
Sanders, S.J.2
Willsey, A.J.3
-
91
-
-
84904635209
-
Disruptive CHD8 mutations define a subtype of autism early in development
-
Bernier R, Golzio C, Xiong B, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell 2014, 158:263-276.
-
(2014)
Cell
, vol.158
, pp. 263-276
-
-
Bernier, R.1
Golzio, C.2
Xiong, B.3
-
92
-
-
67651233780
-
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
-
Bucan M, Abrahams BS, Wang K, et al. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 2009, 5:e1000536.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000536
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
-
93
-
-
84922628604
-
Whole-genome sequencing of quartet families with autism spectrum disorder
-
Yuen RK, Thiruvahindrapuram B, Merico D, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med 2015, 21:185-191.
-
(2015)
Nat Med
, vol.21
, pp. 185-191
-
-
Yuen, R.K.1
Thiruvahindrapuram, B.2
Merico, D.3
-
94
-
-
84920647081
-
An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders
-
Kohane IS An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders. Biol Psychiatry 2015, 77:59-65.
-
(2015)
Biol Psychiatry
, vol.77
, pp. 59-65
-
-
Kohane, I.S.1
|