-
1
-
-
42349095075
-
Advances in autism genetics: On the threshold of a new neurobiol-ogy
-
Abrahams B, Geschwind DH: Advances in autism genetics: on the threshold of a new neurobiol-ogy. Nat Rev Genet 9: 341-355 (2008).
-
(2008)
Nat Rev Genet
, vol.9
, pp. 341-355
-
-
Abrahams, B.1
Geschwind, D.H.2
-
2
-
-
84867829870
-
Individual common variants exert weak effects on the risk for autism spectrum disorders
-
Anney R, Klei L, Pinto D, Almeida J, Bacchelli E, et al: Individual common variants exert weak effects on the risk for autism spectrum disorders. Hum Mol Genet 21: 4781-4792 (2012).
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4781-4792
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Almeida, J.4
Bacchelli, E.5
-
3
-
-
33847327313
-
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
-
Autism Genome Project Consortium
-
Autism Genome Project Consortium, Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, et al: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 39: 319-328 (2007).
-
(2007)
Nat Genet
, vol.39
, pp. 319-328
-
-
Szatmari, P.1
Paterson, A.D.2
Zwaigenbaum, L.3
Roberts, W.4
-
4
-
-
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, Glessner JT, Herman EI, et al: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5:e1000536 (2009).
-
(2009)
PLoS Genet
, vol.5
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
Glessner, J.T.4
Herman, E.I.5
-
5
-
-
84886800878
-
Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci
-
Chilian B, Abdollahpour H, Bierhals T, Haltrich I, Fekete G, et al: Dysfunction of SHANK2 and CHRNA7 in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci. Clin Genet 84: 560-565 (2013).
-
(2013)
Clin Genet
, vol.84
, pp. 560-565
-
-
Chilian, B.1
Abdollahpour, H.2
Bierhals, T.3
Haltrich, I.4
Fekete, G.5
-
6
-
-
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 SM, et al: No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet 156B:633-639 (2011).
-
(2011)
Am J Med Genet B Neuropsychiatr Genet
, vol.156 B
, pp. 633-639
-
-
Curran, S.1
Bolton, P.2
Rozsnyai, K.3
Chiocchetti, A.4
Klauck, S.M.5
-
7
-
-
78049329316
-
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
-
Endele S, Rosenberger G, Geider K, Popp B, Tamer C, et al: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42: 1021-1026 (2010).
-
(2010)
Nat Genet
, vol.42
, pp. 1021-1026
-
-
Endele, S.1
Rosenberger, G.2
Geider, K.3
Popp, B.4
Tamer, C.5
-
8
-
-
33845797961
-
The genetics of autistic disorders and its clinical relevance: A review of the literature
-
Freitag CM: The genetics of autistic disorders and its clinical relevance: a review of the literature. Mol Psychiatry 12: 2-22 (2007).
-
(2007)
Mol Psychiatry
, vol.12
, pp. 2-22
-
-
Freitag, C.M.1
-
9
-
-
78650808443
-
Phenotypic variability and genetic susceptibility to genomic disorders
-
Girirajan S, Eichler EE: Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet 19:R176-R187 (2010).
-
(2010)
Hum Mol Genet
, vol.19
-
-
Girirajan, S.1
Eichler, E.E.2
-
10
-
-
84867172514
-
Phenotypic heterogeneity of genomic disorders and rare copy-number variants
-
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, et al: Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 367: 1321-1331 (2012).
-
(2012)
N Engl J Med
, vol.367
, pp. 1321-1331
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Coe, B.P.3
Parikh, S.4
Friedman, N.5
-
11
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, et al: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459: 569-573 (2009).
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
-
12
-
-
77955981330
-
Linkage and candidate gene studies of autism spectrum disorders in European populations
-
Holt R, Barnby G, Maestrini E, Bacchelli E, Brock-lebank D, et al: Linkage and candidate gene studies of autism spectrum disorders in European populations. Eur J Hum Genet 18: 1013-1019 (2010).
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 1013-1019
-
-
Holt, R.1
Barnby, G.2
Maestrini, E.3
Bacchelli, E.4
Brock-Lebank, D.5
-
14
-
-
84871298155
-
Common genetic variants, acting addi-tively, are a major source of risk for autism
-
Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, et al: Common genetic variants, acting addi-tively, are a major source of risk for autism. Mol Autism 3: 9 (2012).
-
(2012)
Mol Autism
, vol.3
, pp. 9
-
-
Klei, L.1
Sanders, S.J.2
Murtha, M.T.3
Hus, V.4
Lowe, J.K.5
-
15
-
-
84859066832
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
-
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, et al: Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS Genet 8:e1002521 (2012).
-
(2012)
PLoS Genet
, vol.8
-
-
Leblond, C.S.1
Heinrich, J.2
Delorme, R.3
Proepper, C.4
Betancur, C.5
-
16
-
-
65449184161
-
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1
-
Ma D, Salyakina D, Jaworski JM, Konidari I, Whitehead PL, et al: A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet 73: 263-273 (2009).
-
(2009)
Ann Hum Genet
, vol.73
, pp. 263-273
-
-
Ma, D.1
Salyakina, D.2
Jaworski, J.M.3
Konidari, I.4
Whitehead, P.L.5
-
17
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, et al: Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82: 477-488 (2008).
-
(2008)
Am J Hum Genet
, vol.82
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
Lionel, A.C.4
Feuk, L.5
-
18
-
-
84890795915
-
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
-
Nava C, Keren B, Mignot C, Rastetter A, Chantot-Bastaraud S, et al: Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders. Eur J Hum Genet 22: 71-78 (2014).
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 71-78
-
-
Nava, C.1
Keren, B.2
Mignot, C.3
Rastetter, A.4
Chantot-Bastaraud, S.5
-
19
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE, et al: Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485: 242-245 (2012).
-
(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
-
20
-
-
0035879770
-
Neural recognition molecule NB-2 of the con-tactin/F3 subgroup in rat: Specificity in neu-rite outgrowth-promoting activity and restricted expression in the brain regions
-
Ogawa J, Lee S, Itoh K, Nagata S, Machida T, et al: Neural recognition molecule NB-2 of the con-tactin/F3 subgroup in rat: specificity in neu-rite outgrowth-promoting activity and restricted expression in the brain regions. J Neurosci Res 65: 100-110 (2001).
-
(2001)
J Neurosci Res
, vol.65
, pp. 100-110
-
-
Ogawa, J.1
Lee, S.2
Itoh, K.3
Nagata, S.4
Machida, T.5
-
21
-
-
79957589237
-
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
-
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, et al: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet 43: 585-589 (2011).
-
(2011)
Nat Genet
, vol.43
, pp. 585-589
-
-
O'Roak, B.J.1
Deriziotis, P.2
Lee, C.3
Vives, L.4
Schwartz, J.J.5
-
22
-
-
84860741138
-
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
-
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, et al: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485: 246-250 (2012a).
-
(2012)
Nature
, vol.485
, pp. 246-250
-
-
O'Roak, B.J.1
Vives, L.2
Girirajan, S.3
Karakoc, E.4
Krumm, N.5
-
23
-
-
84871448593
-
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
-
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, et al: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 338: 1619-1622 (2012b).
-
(2012)
Science
, vol.338
, pp. 1619-1622
-
-
O'Roak, B.J.1
Vives, L.2
Fu, W.3
Egertson, J.D.4
Stanaway, I.B.5
-
24
-
-
84858077787
-
What does CNTNAP2 reveal about autism spectrum disorder?
-
Peñagarikano O, Geschwind DH: What does CNTNAP2 reveal about autism spectrum disorder? Trends Mol Med 18: 156-163 (2012).
-
(2012)
Trends Mol Med
, vol.18
, pp. 156-163
-
-
Peñagarikano, O.1
Geschwind, D.H.2
-
25
-
-
80053540965
-
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
-
Peñagarikano O, Abrahams BS, Herman EI, Winden KD, Gdalyahu A, et al: Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell 147: 235-246 (2011).
-
(2011)
Cell
, vol.147
, pp. 235-246
-
-
Peñagarikano, O.1
Abrahams, B.S.2
Herman, E.I.3
Winden, K.D.4
Gdalyahu, A.5
-
26
-
-
84884592445
-
Genic intolerance to functional variation and the interpretation of personal genomes
-
Petrovski S, Wang Q, Heinzen EL, Allen AS, Goldstein DB: Genic intolerance to functional variation and the interpretation of personal genomes. PLoS Genet 9:e1003709 (2013).
-
(2013)
PLoS Genet
, vol.9
-
-
Petrovski, S.1
Wang, Q.2
Heinzen, E.L.3
Allen, A.S.4
Goldstein, D.B.5
-
27
-
-
84880003036
-
Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders
-
Poot M: Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. Mol Syndromol 4: 213-226 (2013).
-
(2013)
Mol Syndromol
, vol.4
, pp. 213-226
-
-
Poot, M.1
-
28
-
-
77449099603
-
Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex
-
Poot M, Eleveld MJ, van 't Slot R, Ploos van Am-stel HK, Hochstenbach R: Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex. Eur J Hum Genet 18: 39-46 (2010a).
-
(2010)
Eur J Hum Genet
, vol.18
, pp. 39-46
-
-
Poot, M.1
Eleveld, M.J.2
Van 'T Slot, R.3
Ploos Van Amstel, H.K.4
Hochstenbach, R.5
-
29
-
-
76549104658
-
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
-
Poot M, Beyer V, Schwaab I, Damatova N, Van 't Slot R, et al: Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 11: 81-89 (2010b).
-
(2010)
Neurogenetics
, vol.11
, pp. 81-89
-
-
Poot, M.1
Beyer, V.2
Schwaab, I.3
Damatova, N.4
Van 'T Slot, R.5
-
30
-
-
83555168191
-
Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
-
Poot M, van der Smagt JJ, Brilstra EH, Bourgeron T: Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. Cyto-genet Genome Res 135: 228-240 (2011).
-
(2011)
Cyto-genet Genome Res
, vol.135
, pp. 228-240
-
-
Poot, M.1
Van Der Smagt, J.J.2
Brilstra, E.H.3
Bourgeron, T.4
-
31
-
-
77956586071
-
LocusZoom: Regional visualization of genome-wide association scan results
-
Pruim RJ, Welch RP, Sanna S, Teslovich TM, Chines PS, et al: LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics 26: 2336-2337 (2010).
-
(2010)
Bioinformatics
, vol.26
, pp. 2336-2337
-
-
Pruim, R.J.1
Welch, R.P.2
Sanna, S.3
Teslovich, T.M.4
Chines, P.S.5
-
32
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575 (2007).
-
(2007)
Am J Hum Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
-
33
-
-
84892805805
-
Shining a light on CNTNAP2: Complex functions to complex disorders
-
Rodenas-Cuadrado P, Ho J, Vernes SC: Shining a light on CNTNAP2: complex functions to complex disorders. Eur J Hum Genet 22: 171-178 (2014).
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 171-178
-
-
Rodenas-Cuadrado, P.1
Ho, J.2
Vernes, S.C.3
-
34
-
-
80053892695
-
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk
-
Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, et al: Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One 6:e26049 (2011).
-
(2011)
PLoS One
, vol.6
-
-
Salyakina, D.1
Cukier, H.N.2
Lee, J.M.3
Sacharow, S.4
Nations, L.D.5
-
35
-
-
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, Luo R, Murtha MT, et al: Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70: 863-885 (2011).
-
(2011)
Neuron
, vol.70
, pp. 863-885
-
-
Sanders, S.J.1
Ercan-Sencicek, A.G.2
Hus, V.3
Luo, R.4
Murtha, M.T.5
-
36
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, et al: De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485: 237-241 (2012).
-
(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
-
37
-
-
84856800670
-
A cis-xcomplex of NB-2/contac-tin-5 with amyloid precursor-like protein 1 is localized on the presynaptic membrane
-
Shimoda Y, Koseki F, Itoh M, Toyoshima M, Watanabe K: A cis-xcomplex of NB-2/contac-tin-5 with amyloid precursor-like protein 1 is localized on the presynaptic membrane. Neu-rosc Let 510: 148-153 (2012).
-
(2012)
Neu-rosc Let
, vol.510
, pp. 148-153
-
-
Shimoda, Y.1
Koseki, F.2
Itoh, M.3
Toyoshima, M.4
Watanabe, K.5
-
38
-
-
34447628063
-
Rethinking the nature of genetic vulnerability to autistic spectrum disorders
-
Skuse DH: Rethinking the nature of genetic vulnerability to autistic spectrum disorders. Trends Genet 23: 387-395 (2007).
-
(2007)
Trends Genet
, vol.23
, pp. 387-395
-
-
Skuse, D.H.1
-
39
-
-
82255192290
-
The conundrums of understanding genetic risks for autism spectrum disorders
-
State MW, Levitt P: The conundrums of understanding genetic risks for autism spectrum disorders. Nat Neurosci14: 1499-1506 (2011).
-
(2011)
Nat Neurosci
, vol.14
, pp. 1499-1506
-
-
State, M.W.1
Levitt, P.2
-
40
-
-
79954605497
-
A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits
-
Stein MB, Yang BZ, Chavira DA, Hitchcock CA, Sung SC, et al: A common genetic variant in the neurexin superfamily member CNTNAP2 is associated with increased risk for selective mutism and social anxiety-related traits. Biol Psychiatry 69: 825-831 (2011).
-
(2011)
Biol Psychiatry
, vol.69
, pp. 825-831
-
-
Stein, M.B.1
Yang, B.Z.2
Chavira, D.A.3
Hitchcock, C.A.4
Sung, S.C.5
-
41
-
-
77955093058
-
Key role for gene dosage and synaptic homeostasis in autism spectrum disorders
-
Toro R, Konyukh M, Delorme R, Leblond C, Chaste P, et al: Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. Trends Genet 26: 363-372 (2010).
-
(2010)
Trends Genet
, vol.26
, pp. 363-372
-
-
Toro, R.1
Konyukh, M.2
Delorme, R.3
Leblond, C.4
Chaste, P.5
-
42
-
-
84855277684
-
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism
-
van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T, et al: Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. Neurogenetics 12: 315-323 (2011).
-
(2011)
Neurogenetics
, vol.12
, pp. 315-323
-
-
Van Daalen, E.1
Kemner, C.2
Verbeek, N.E.3
Van Der Zwaag, B.4
Dijkhuizen, T.5
-
43
-
-
57149090343
-
A functional genetic link between distinct developmental language disorders
-
Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, et al: A functional genetic link between distinct developmental language disorders. N Engl J Med 359: 2337-2345 (2008).
-
(2008)
N Engl J Med
, vol.359
, pp. 2337-2345
-
-
Vernes, S.C.1
Newbury, D.F.2
Abrahams, B.S.3
Winchester, L.4
Nicod, J.5
-
44
-
-
67349112868
-
Common genetic variants on 5p14.1 associate with autism spectrum disorders
-
Wang K, Zhang H, Ma D, Bucan M, Glessner JT, et al: Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459: 528-533 (2009).
-
(2009)
Nature
, vol.459
, pp. 528-533
-
-
Wang, K.1
Zhang, H.2
Ma, D.3
Bucan, M.4
Glessner, J.T.5
-
45
-
-
83555161562
-
Functional enrichment analysis with structural variants: Pitfalls and strategies
-
Webber C: Functional enrichment analysis with structural variants: pitfalls and strategies. Cy-togenet Genome Res 135: 277-285 (2011).
-
(2011)
Cy-togenet Genome Res
, vol.135
, pp. 277-285
-
-
Webber, C.1
|