-
1
-
-
77449121614
-
Target-enrichment strategies for next-generation sequencing
-
Mamanova, L., Coffey, A.J., Scott, C.E., Kozarewa, I., Turner, E.H., Kumar, A., Howard, E., Shendure, J. and Turner, D.J. (2010) Target-enrichment strategies for next-generation sequencing. Nat. Methods, 7, 111-118.
-
(2010)
Nat. Methods
, vol.7
, pp. 111-118
-
-
Mamanova, L.1
Coffey, A.J.2
Scott, C.E.3
Kozarewa, I.4
Turner, E.H.5
Kumar, A.6
Howard, E.7
Shendure, J.8
Turner, D.J.9
-
2
-
-
53649106195
-
Next-generation DNA sequencing
-
Shendure, J. and Ji, H. (2008) Next-generation DNA sequencing. Nat. Biotechnol., 26, 1135-1145.
-
(2008)
Nat. Biotechnol.
, vol.26
, pp. 1135-1145
-
-
Shendure, J.1
Ji, H.2
-
3
-
-
70350517377
-
Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007
-
Kogan, M.D., Blumberg, S.J., Schieve, L.A., Boyle, C.A., Perrin, J.M., Ghandour, R.M., Singh, G.K., Strickland, B.B., Trevathan, E. and van Dyck, P.C. (2009) Prevalence of parent-reported diagnosis of autism spectrum disorder among children in the US, 2007. Pediatrics, 124, 1395-1403.
-
(2009)
Pediatrics
, vol.124
, pp. 1395-1403
-
-
Kogan, M.D.1
Blumberg, S.J.2
Schieve, L.A.3
Boyle, C.A.4
Perrin, J.M.5
Ghandour, R.M.6
Singh, G.K.7
Strickland, B.B.8
Trevathan, E.9
van Dyck, P.C.10
-
4
-
-
0037218815
-
The prevalence of autism
-
Fombonne, E. (2003) The prevalence of autism. JAMA, 289, 87-89.
-
(2003)
JAMA
, vol.289
, pp. 87-89
-
-
Fombonne, E.1
-
5
-
-
0028906338
-
Autism as a strongly genetic disorder: evidence from a British twin study
-
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E. and Rutter, M. (1995) Autism as a strongly genetic disorder: evidence from a British twin study. Psychol. Med., 25, 63-77.
-
(1995)
Psychol. Med.
, vol.25
, pp. 63-77
-
-
Bailey, A.1
Le Couteur, A.2
Gottesman, I.3
Bolton, P.4
Simonoff, E.5
Yuzda, E.6
Rutter, M.7
-
6
-
-
78349291914
-
Sibling recurrence and the genetic epidemiology of autism
-
Constantino, J.N., Zhang, Y., Frazier, T., Abbacchi, A.M. and Law, P. (2010) Sibling recurrence and the genetic epidemiology of autism. Am. J. Psychiatry, 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
-
7
-
-
78349293844
-
The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood
-
Lichtenstein, P., Carlström, E., Råstam, M., Gillberg, C. and Anckarsäter, H. (2010) The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am. J. Psychiatry, 167, 1357- 1363.
-
(2010)
Am. J. Psychiatry
, vol.167
, pp. 1357-1363
-
-
Lichtenstein, P.1
Carlström, E.2
Råstam, M.3
Gillberg, C.4
Anckarsäter, H.5
-
8
-
-
80051944739
-
Genetic heritability and shared environmental factors among twin pairs with autism
-
Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., Miller, J., Fedele, A., Collins, J., Smith, K. et al. (2011) Genetic heritability and shared environmental factors among twin pairs with autism. Arch. Gen. Psychiatry, 68, 1095-1102.
-
(2011)
Arch. Gen. Psychiatry
, vol.68
, pp. 1095-1102
-
-
Hallmayer, J.1
Cleveland, S.2
Torres, A.3
Phillips, J.4
Cohen, B.5
Torigoe, T.6
Miller, J.7
Fedele, A.8
Collins, J.9
Smith, K.10
-
9
-
-
79952597943
-
Autism spectrum disorders and autistic traits: a decade of new twin studies
-
Ronald, A. and Hoekstra, R.A. (2011) Autism spectrum disorders and autistic traits: a decade of new twin studies. Am. J. Med. Genet. B, 156B, 255-274.
-
(2011)
Am. J. Med. Genet. B
, vol.156 B
, pp. 255-274
-
-
Ronald, A.1
Hoekstra, R.A.2
-
10
-
-
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 Res., 1380, 42-77.
-
(2011)
Brain Res
, vol.1380
, pp. 42-77
-
-
Betancur, C.1
-
11
-
-
82255192290
-
The conundrums of understanding genetic risks for autism spectrum disorders
-
State, M.W. and Levitt, P. (2011) The conundrums of understanding genetic risks for autism spectrum disorders. Nat. Neurosci., 14, 1499- 1506.
-
(2011)
Nat. Neurosci.
, vol.14
, pp. 1499-1506
-
-
State, M.W.1
Levitt, P.2
-
12
-
-
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., Salyakina, D., Imielinski, M., Bradfield, J.P., Sleiman, P.M.A. 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
Salyakina, D.7
Imielinski, M.8
Bradfield, J.P.9
Sleiman, P.M.A.10
-
13
-
-
70349956425
-
A genome-wide linkage and association scan reveals novel loci for autism
-
Weiss, L.A., Arking, D.E., Daly, M.J. and 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
-
14
-
-
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., Correia, C., Abrahams, B.S., Sykes, N., Pagnamenta, A.T. et al. (2010) A genome-wide scan for common alleles affecting risk for autism. Hum. Mol. Genet., 19, 4072-4082.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 4072-4082
-
-
Anney, R.1
Klei, L.2
Pinto, D.3
Regan, R.4
Conroy, J.5
Magalhaes, T.R.6
Correia, C.7
Abrahams, B.S.8
Sykes, N.9
Pagnamenta, A.T.10
-
15
-
-
79952310364
-
Do common variants play a role in risk for autism? Evidence and theoretical musings
-
Devlin, B., Melhem, N. and Roeder, K. (2011) Do common variants play a role in risk for autism? Evidence and theoretical musings. Brain Res., 1380, 78-84.
-
(2011)
Brain Res
, vol.1380
, pp. 78-84
-
-
Devlin, B.1
Melhem, N.2
Roeder, K.3
-
16
-
-
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., Badner, J.A., Matsui, S., Conroy, J., McQuaid, D. et al. (2008) Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol. Psychiatry, 63, 1111-1117.
-
(2008)
Biol. 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
Badner, J.A.7
Matsui, S.8
Conroy, J.9
McQuaid, D.10
-
17
-
-
38849126088
-
Recurrent 16p11.2 microdeletions in autism
-
Kumar, R.A., KaraMohamed, S., Sudi, J., Conrad, D.F., Brune, C., Badner, J.A., Gilliam, T.C., Nowak, N.J., Cook, E.H., Dobyns, W.B. et al. (2008) Recurrent 16p11.2 microdeletions in autism. Hum. Mol. Genet., 17, 628-638.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 628-638
-
-
Kumar, R.A.1
KaraMohamed, S.2
Sudi, J.3
Conrad, D.F.4
Brune, C.5
Badner, J.A.6
Gilliam, T.C.7
Nowak, N.J.8
Cook, E.H.9
Dobyns, W.B.10
-
18
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall, C.R., Noor, A., Vincent, J.B., Lionel, A.C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y. et al. (2008) Structural variation of chromosomes in autism spectrum disorder. Am. J. Hum. Genet., 82, 477-488.
-
(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
Skaug, J.6
Shago, M.7
Moessner, R.8
Pinto, D.9
Ren, Y.10
-
19
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss, L.A., Shen, Y., Korn, J.M., Arking, D.E., Miller, D.T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M.A., Green, T. et al. (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med., 358, 667-675.
-
(2008)
N. Engl. J. Med.
, vol.358
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
Arking, D.E.4
Miller, D.T.5
Fossdal, R.6
Saemundsen, E.7
Stefansson, H.8
Ferreira, M.A.9
Green, T.10
-
20
-
-
67651233780
-
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
-
Bucan, M., Abrahams, B.S., Wang, K., Glessner, J.T., Herman, E.I., Sonnenblick, L.I., Alvarez Retuerto, A.I., Imielinski, M., Hadley, D., Bradfield, J.P. et al. (2009) Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet., 5, e1000536.
-
(2009)
PLoS Genet
, vol.5
-
-
Bucan, M.1
Abrahams, B.S.2
Wang, K.3
Glessner, J.T.4
Herman, E.I.5
Sonnenblick, L.I.6
Alvarez Retuerto, A.I.7
Imielinski, M.8
Hadley, D.9
Bradfield, J.P.10
-
21
-
-
67349182343
-
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
-
Glessner, J.T., Wang, K., Cai, G., Korvatska, O., Kim, C.E., Wood, S., Zhang, H., Estes, A., Brune, C.W., Bradfield, J.P. et al. (2009) Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature, 459, 569-573.
-
(2009)
Nature
, vol.459
, pp. 569-573
-
-
Glessner, J.T.1
Wang, K.2
Cai, G.3
Korvatska, O.4
Kim, C.E.5
Wood, S.6
Zhang, H.7
Estes, A.8
Brune, C.W.9
Bradfield, J.P.10
-
22
-
-
77954657070
-
Functional impact of global rare copy number variation in autism spectrum disorders
-
Pinto, D., Pagnamenta, A.T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T.R., Correia, C., Abrahams, B.S. et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature, 466, 368-372.
-
(2010)
Nature
, vol.466
, pp. 368-372
-
-
Pinto, D.1
Pagnamenta, A.T.2
Klei, L.3
Anney, R.4
Merico, D.5
Regan, R.6
Conroy, J.7
Magalhaes, T.R.8
Correia, C.9
Abrahams, B.S.10
-
23
-
-
78249281977
-
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
-
Moreno-De-Luca, D., Mulle, J.G., Kaminsky, E.B., Sanders, S.J., Myers, S.M., Adam, M.P., Pakula, A.T., Eisenhauer, N.J., Uhas, K., Weik, L. et al. (2010) Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am. J. Hum. Genet., 87, 618-630.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 618-630
-
-
Moreno-De-Luca, D.1
Mulle, J.G.2
Kaminsky, E.B.3
Sanders, S.J.4
Myers, S.M.5
Adam, M.P.6
Pakula, A.T.7
Eisenhauer, N.J.8
Uhas, K.9
Weik, L.10
-
24
-
-
77955563933
-
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
-
49ra68
-
Noor, A., Whibley, A., Marshall, C.R., Gianakopoulos, P.J., Piton, A., Carson, A.R., Orlic-Milacic, M., Lionel, A.C., Sato, D., Pinto, D. et al. (2010) Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Sci. Transl. Med., 2, 49ra68.
-
(2010)
Sci. Transl. Med.
, vol.2
-
-
Noor, A.1
Whibley, A.2
Marshall, C.R.3
Gianakopoulos, P.J.4
Piton, A.5
Carson, A.R.6
Orlic-Milacic, M.7
Lionel, A.C.8
Sato, D.9
Pinto, D.10
-
25
-
-
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., Chu, S.H., Moreau, M.P., Gupta, A.R., Thomson, S.A. et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron, 70, 863-885.
-
(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
Moreno-De-Luca, D.6
Chu, S.H.7
Moreau, M.P.8
Gupta, A.R.9
Thomson, S.A.10
-
26
-
-
79958032110
-
Rare de novo and transmitted copy-number variation in autistic spectrum disorders
-
Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K. et al. (2011) Rare de novo and transmitted copy-number variation in autistic spectrum disorders. Neuron, 70, 886-897.
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.-H.4
Leotta, A.5
Kendall, J.6
Marks, S.7
Lakshmi, B.8
Pai, D.9
Ye, K.10
-
27
-
-
80054957107
-
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in
-
Celestino-Soper, P.B.S., Shaw, C.A., Sanders, S.J., Li, J., Murtha, M.T., Ercan-Sencicek, A.G., Davis, L., Thomson, S., Gambin, T., Chinault, A.C. et al. (2011) Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in, TMLHE. Hum. Mol. Genet., 20, 4360-4370.
-
(2011)
TMLHE. Hum. Mol. Genet.
, vol.20
, pp. 4360-4370
-
-
Celestino-Soper, P.B.S.1
Shaw, C.A.2
Sanders, S.J.3
Li, J.4
Murtha, M.T.5
Ercan-Sencicek, A.G.6
Davis, L.7
Thomson, S.8
Gambin, T.9
Chinault, A.C.10
-
28
-
-
0037656313
-
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
-
Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I.C., Soderstrom, H., Giros, B., Leboyer, M., Gillberg, C. et al. (2003) Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat. Genet., 34, 27-29.
-
(2003)
Nat. Genet.
, vol.34
, pp. 27-29
-
-
Jamain, S.1
Quach, H.2
Betancur, C.3
Råstam, M.4
Colineaux, C.5
Gillberg, I.C.6
Soderstrom, H.7
Giros, B.8
Leboyer, M.9
Gillberg, C.10
-
29
-
-
12144291350
-
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
-
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P. et al. (2004) X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am. J. Hum. Genet., 74, 552-557.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 552-557
-
-
Laumonnier, F.1
Bonnet-Brilhault, F.2
Gomot, M.3
Blanc, R.4
David, A.5
Moizard, M.-P.6
Raynaud, M.7
Ronce, N.8
Lemonnier, E.9
Calvas, P.10
-
30
-
-
84860582461
-
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
-
Chung, R.-H., Ma, D., Wang, K., Hedges, D.J., Jaworski, J.M., Gilbert, J.R., Cuccaro, M.L., Wright, H.H., Abramson, R.K., Konidari, I. et al. (2011) An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Mol. Autism, 2, 18.
-
(2011)
Mol. Autism
, vol.2
, pp. 18
-
-
Chung, R.-H.1
Ma, D.2
Wang, K.3
Hedges, D.J.4
Jaworski, J.M.5
Gilbert, J.R.6
Cuccaro, M.L.7
Wright, H.H.8
Abramson, R.K.9
Konidari, I.10
-
31
-
-
0030138905
-
Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island
-
Gu, Y., Shen, Y., Gibbs, R.A. and Nelson, D.L. (1996) Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat. Genet., 13, 109-113.
-
(1996)
Nat. Genet.
, vol.13
, pp. 109-113
-
-
Gu, Y.1
Shen, Y.2
Gibbs, R.A.3
Nelson, D.L.4
-
32
-
-
0030137717
-
Identification of the gene FMR2, associated with FRAXE mental retardation
-
Gecz, J., Gedeon, A.K., Sutherland, G.R. and Mulley, J.C. (1996) Identification of the gene FMR2, associated with FRAXE mental retardation. Nat. Genet., 13, 105-108.
-
(1996)
Nat. Genet.
, vol.13
, pp. 105-108
-
-
Gecz, J.1
Gedeon, A.K.2
Sutherland, G.R.3
Mulley, J.C.4
-
33
-
-
0031239275
-
Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators
-
Gecz, J., Bielby, S., Sutherland, G.R. and Mulley, J.C. (1997) Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators. Genomics, 44, 201-213.
-
(1997)
Genomics
, vol.44
, pp. 201-213
-
-
Gecz, J.1
Bielby, S.2
Sutherland, G.R.3
Mulley, J.C.4
-
34
-
-
0032966205
-
Fragile X syndrome with FMR1 and FMR2 deletion
-
Moore, S.J., Strain, L., Cole, G.F., Miedzybrodzka, Z., Kelly, K.F. and Dean, J.C. (1999) Fragile X syndrome with FMR1 and FMR2 deletion. J. Med. Genet., 36, 565-566.
-
(1999)
J. Med. Genet.
, vol.36
, pp. 565-566
-
-
Moore, S.J.1
Strain, L.2
Cole, G.F.3
Miedzybrodzka, Z.4
Kelly, K.F.5
Dean, J.C.6
-
35
-
-
34249881332
-
Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation
-
Probst, F.J., Roeder, E.R., Enciso, V.B., Ou, Z., Cooper, M.L., Eng, P., Li, J., Gu, Y., Stratton, R.F., Chinault, A.C. et al. (2007) Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation. Am. J. Med. Genet. A, 143A, 1358-1365.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 1358-1365
-
-
Probst, F.J.1
Roeder, E.R.2
Enciso, V.B.3
Ou, Z.4
Cooper, M.L.5
Eng, P.6
Li, J.7
Gu, Y.8
Stratton, R.F.9
Chinault, A.C.10
-
36
-
-
78650671135
-
FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother
-
Cavani, S., Prontera, P., Grasso, M., Ardisia, C., Malacarne, M., Gradassi, C., Cecconi, M., Mencarelli, A., Donti, E. and Pierluigi, M. (2011) FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother. Am. J. Med. Genet. A, 155A, 221-224.
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, pp. 221-224
-
-
Cavani, S.1
Prontera, P.2
Grasso, M.3
Ardisia, C.4
Malacarne, M.5
Gradassi, C.6
Cecconi, M.7
Mencarelli, A.8
Donti, E.9
Pierluigi, M.10
-
37
-
-
79960561878
-
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion
-
Stettner, G.M., Shoukier, M., Höger, C., Brockmann, K. and Auber, B. (2011) Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion. Am. J. Med. Genet. A, 155A, 2003-2007.
-
(2011)
Am. J. Med. Genet. A
, vol.155 A
, pp. 2003-2007
-
-
Stettner, G.M.1
Shoukier, M.2
Höger, C.3
Brockmann, K.4
Auber, B.5
-
38
-
-
77955569706
-
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability
-
Whibley, A.C., Plagnol, V., Tarpey, P.S., Abidi, F., Fullston, T., Choma, M.K., Boucher, C.A., Shepherd, L., Willatt, L., Parkin, G. et al. (2010) Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. Am. J. Hum. Genet., 87, 173-188.
-
(2010)
Am. J. Hum. Genet.
, vol.87
, pp. 173-188
-
-
Whibley, A.C.1
Plagnol, V.2
Tarpey, P.S.3
Abidi, F.4
Fullston, T.5
Choma, M.K.6
Boucher, C.A.7
Shepherd, L.8
Willatt, L.9
Parkin, G.10
-
39
-
-
0016491430
-
On the number of segregating sites in genetical models without recombination
-
Watterson, G.A. (1975) On the number of segregating sites in genetical models without recombination. Theor. Pop. Biol., 7, 256-276.
-
(1975)
Theor. Pop. Biol.
, vol.7
, pp. 256-276
-
-
Watterson, G.A.1
-
40
-
-
0024313579
-
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism
-
Tajima, F. (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics, 123, 585-595.
-
(1989)
Genetics
, vol.123
, pp. 585-595
-
-
Tajima, F.1
-
41
-
-
33846006923
-
Population structure and eigenanalysis
-
Patterson, N., Price, A.L. and Reich, D. (2006) Population structure and eigenanalysis. PLoS Genet., 2, e190.
-
(2006)
PLoS Genet
, vol.2
-
-
Patterson, N.1
Price, A.L.2
Reich, D.3
-
42
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A.L., Patterson, N.J., Plenge, R.M., Weinblatt, M.E., Shadick, N.A. and Reich, D. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet., 38, 904- 909.
-
(2006)
Nat. Genet.
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
-
43
-
-
79959241413
-
Genomic inflation factors under polygenic inheritance
-
Yang, J., Weedon, M.N., Purcell, S., Lettre, G., Estrada, K., Willer, C.J., Smith, A.V., Ingelsson, E., O'Connell, J.R., Mangino, M. et al. (2011) Genomic inflation factors under polygenic inheritance. Eur. J. Human Genet., 19, 807-812.
-
(2011)
Eur. J. Human Genet.
, vol.19
, pp. 807-812
-
-
Yang, J.1
Weedon, M.N.2
Purcell, S.3
Lettre, G.4
Estrada, K.5
Willer, C.J.6
Smith, A.V.7
Ingelsson, E.8
O'Connell, J.R.9
Mangino, M.10
-
44
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch, N. and Merikangas, K. (1996) The future of genetic studies of complex human diseases. Science, 273, 1516-1517.
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
45
-
-
0029805706
-
The new genomics: global views of biology
-
Lander, E.S. (1996) The new genomics: global views of biology. Science, 274, 536-539.
-
(1996)
Science
, vol.274
, pp. 536-539
-
-
Lander, E.S.1
-
46
-
-
0033039497
-
Prospects for whole-genome linkage disequilibrium mapping of common disease genes
-
Kruglyak, L. (1999) Prospects for whole-genome linkage disequilibrium mapping of common disease genes. Nat. Genet., 22, 139-144.
-
(1999)
Nat. Genet.
, vol.22
, pp. 139-144
-
-
Kruglyak, L.1
-
47
-
-
79959524146
-
A haplotype map of the human genome
-
Consortium, I.H. (2005) A haplotype map of the human genome. Nature, 437, 1299-1320.
-
(2005)
Nature
, vol.437
, pp. 1299-1320
-
-
Consortium, I.H.1
-
48
-
-
35348983887
-
A second generation human haplotype map of over 3.1 million SNPs
-
Consortium, I.H., Frazer, K.A., Ballinger, D.G., Cox, D.R., Hinds, D.A., Stuve, L.L., Gibbs, R.A., Belmont, J.W., Boudreau, A., Hardenbol, P. et al. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature, 449, 851-861.
-
(2007)
Nature
, vol.449
, pp. 851-861
-
-
Consortium, I.H.1
Frazer, K.A.2
Ballinger, D.G.3
Cox, D.R.4
Hinds, D.A.5
Stuve, L.L.6
Gibbs, R.A.7
Belmont, J.W.8
Boudreau, A.9
Hardenbol, P.10
-
49
-
-
0034570964
-
Patterns of genetic variation in Mendelian and complex traits
-
Zwick, M.E., Cutler, D.J. and Chakravarti, A. (2000) Patterns of genetic variation in Mendelian and complex traits. Annu. Rev. Genomics Hum. Genet., 1, 387-407.
-
(2000)
Annu. Rev. Genomics Hum. Genet.
, vol.1
, pp. 387-407
-
-
Zwick, M.E.1
Cutler, D.J.2
Chakravarti, A.3
-
50
-
-
84862909349
-
Five years of GWAS discovery
-
Visscher, P.M., Brown, M.A., McCarthy, M.I. and Yang, J. (2012) Five years of GWAS discovery. Am. J. Hum. Genet., 90, 7-24.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 7-24
-
-
Visscher, P.M.1
Brown, M.A.2
McCarthy, M.I.3
Yang, J.4
-
51
-
-
84955349191
-
A mathematical theory of natural and artificial selection, part V: selection and mutation
-
Haldane, J.B.S. (1927) A mathematical theory of natural and artificial selection, part V: selection and mutation. Math. Proc. Cambridge, 23, 838-844.
-
(1927)
Math. Proc. Cambridge
, vol.23
, pp. 838-844
-
-
Haldane, J.B.S.1
-
52
-
-
0024792701
-
Evolutionary quantitative genetics: how little do we know? Annu
-
Barton, N.H. and Turelli, M. (1989) Evolutionary quantitative genetics: how little do we know? Annu. Rev. Genet., 23, 337-370.
-
(1989)
Rev. Genet.
, vol.23
, pp. 337-370
-
-
Barton, N.H.1
Turelli, M.2
-
53
-
-
0036245475
-
Understanding quantitative genetic variation
-
Barton, N.H. and Keightley, P.D. (2002) Understanding quantitative genetic variation. Nat. Rev. Genet., 3, 11-21.
-
(2002)
Nat. Rev. Genet.
, vol.3
, pp. 11-21
-
-
Barton, N.H.1
Keightley, P.D.2
-
54
-
-
0016814243
-
The maintenance of genetic variability by mutation in a polygenic character with linked loci
-
Lande, R. (1975) The maintenance of genetic variability by mutation in a polygenic character with linked loci. Genet. Res., 26, 221-235.
-
(1975)
Genet. Res.
, vol.26
, pp. 221-235
-
-
Lande, R.1
-
55
-
-
0021419667
-
Heritable genetic variation via mutation-selection balance: Lerch's zeta meets the abdominal bristle
-
Turelli, M. (1984) Heritable genetic variation via mutation-selection balance: Lerch's zeta meets the abdominal bristle. Theor. Pop. Biol., 25, 138-193.
-
(1984)
Theor. Pop. Biol.
, vol.25
, pp. 138-193
-
-
Turelli, M.1
-
56
-
-
66749148353
-
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
-
Tarpey, P.S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A. et al. (2009) A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat. Genet., 41, 535-543.
-
(2009)
Nat. Genet.
, vol.41
, pp. 535-543
-
-
Tarpey, P.S.1
Smith, R.2
Pleasance, E.3
Whibley, A.4
Edkins, S.5
Hardy, C.6
O'Meara, S.7
Latimer, C.8
Dicks, E.9
Menzies, A.10
-
57
-
-
79960837617
-
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia
-
Piton, A., Gauthier, J., Hamdan, F.F., Lafreniere, R.G., Yang, Y., Henrion, E., Laurent, S., Noreau, A., Thibodeau, P., Karemera, L. et al. (2011) Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Mol. Psychiatry, 16, 867-880.
-
(2011)
Mol. Psychiatry
, vol.16
, pp. 867-880
-
-
Piton, A.1
Gauthier, J.2
Hamdan, F.F.3
Lafreniere, R.G.4
Yang, Y.5
Henrion, E.6
Laurent, S.7
Noreau, A.8
Thibodeau, P.9
Karemera, L.10
-
58
-
-
84860817223
-
Recent explosive human population growth has resulted in an excess of rare genetic variants
-
Keinan, A. and Clark, A.G. (2012) Recent explosive human population growth has resulted in an excess of rare genetic variants. Science, 336, 740-743.
-
(2012)
Science
, vol.336
, pp. 740-743
-
-
Keinan, A.1
Clark, A.G.2
-
59
-
-
0035179971
-
Replication validity of genetic association studies
-
Ioannidis, J.P., Ntzani, E.E., Trikalinos, T.A. and Contopoulos-Ioannidis, D.G. (2001) Replication validity of genetic association studies. Nat. Genet., 29, 306-309.
-
(2001)
Nat. Genet.
, vol.29
, pp. 306-309
-
-
Ioannidis, J.P.1
Ntzani, E.E.2
Trikalinos, T.A.3
Contopoulos-Ioannidis, D.G.4
-
60
-
-
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., Lin, C.F., Stevens, C., Wang, L.S., Makarov, V. 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
Lin, C.F.7
Stevens, C.8
Wang, L.S.9
Makarov, V.10
-
61
-
-
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., Levy, R., Ko, A., Lee, C., Smith, J.D. et al. (2012) Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature, 485, 246-250.
-
(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
Levy, R.7
Ko, A.8
Lee, C.9
Smith, J.D.10
-
62
-
-
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., Ercan-Sencicek, A.G., DiLullo, N.M., Parikshak, N.N., Stein, J.L. 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
Ercan-Sencicek, A.G.7
DiLullo, N.M.8
Parikshak, N.N.9
Stein, J.L.10
-
63
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A. et al. (2012) De novo gene disruptions in children on the autistic spectrum. Neuron, 74, 285- 299.
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
Ronemus, M.2
Levy, D.3
Wang, Z.4
Hakker, I.5
Rosenbaum, J.6
Yamrom, B.7
Lee, Y.-H.8
Narzisi, G.9
Leotta, A.10
-
64
-
-
62549119174
-
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure
-
Bensaid, M., Melko, M., Bechara, E.G., Davidovic, L., Berretta, A., Catania, M.V., Gecz, J., Lalli, E. and Bardoni, B. (2009) FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. Nucleic Acids Res., 37, 1269-1279.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 1269-1279
-
-
Bensaid, M.1
Melko, M.2
Bechara, E.G.3
Davidovic, L.4
Berretta, A.5
Catania, M.V.6
Gecz, J.7
Lalli, E.8
Bardoni, B.9
-
65
-
-
0035047263
-
Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator
-
Hillman, M.A. and Gecz, J. (2001) Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator. J. Hum. Genet., 46, 251-259.
-
(2001)
J. Hum. Genet.
, vol.46
, pp. 251-259
-
-
Hillman, M.A.1
Gecz, J.2
-
66
-
-
0034916325
-
The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions
-
AGRE Steering Committee
-
Geschwind, D.H., Sowinski, J., Lord, C., Iversen, P., Shestack, J., Jones, P., Ducat, L. and Spence, S.J., AGRE Steering Committee. (2001) The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions. Am. J. Hum. Genet., 69, 463-466.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 463-466
-
-
Geschwind, D.H.1
Sowinski, J.2
Lord, C.3
Iversen, P.4
Shestack, J.5
Jones, P.6
Ducat, L.7
Spence, S.J.8
-
67
-
-
77957927440
-
The Simons Simplex Collection: a resource for identification of autism genetic risk factors
-
Fischbach, G.D. and Lord, C. (2010) The Simons Simplex Collection: a resource for identification of autism genetic risk factors. Neuron, 68, 192-195.
-
(2010)
Neuron
, vol.68
, pp. 192-195
-
-
Fischbach, G.D.1
Lord, C.2
-
68
-
-
80053322191
-
Targeted sequencing of the human X chromosome exome
-
Mondal, K., Shetty, A.C., Patel, V., Cutler, D.J. and Zwick, M.E. (2011) Targeted sequencing of the human X chromosome exome. Genomics, 98, 260-265.
-
(2011)
Genomics
, vol.98
, pp. 260-265
-
-
Mondal, K.1
Shetty, A.C.2
Patel, V.3
Cutler, D.J.4
Zwick, M.E.5
-
69
-
-
77956640112
-
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations
-
Shetty, A.C., Athri, P., Mondal, K., Horner, V.L., Steinberg, K.M., Patel, V., Caspary, T., Cutler, D.J. and Zwick, M.E. (2010) SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. BMC Bioinformatics, 11, 471.
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 471
-
-
Shetty, A.C.1
Athri, P.2
Mondal, K.3
Horner, V.L.4
Steinberg, K.M.5
Patel, V.6
Caspary, T.7
Cutler, D.J.8
Zwick, M.E.9
-
70
-
-
78349251291
-
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
-
Collins, S.C., Bray, S.M., Suhl, J.A., Cutler, D.J., Coffee, B., Zwick, M.E. and Warren, S.T. (2010) Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am. J. Med. Genet. A, 152A, 2512-2520.
-
(2010)
Am. J. Med. Genet. A
, vol.152 A
, pp. 2512-2520
-
-
Collins, S.C.1
Bray, S.M.2
Suhl, J.A.3
Cutler, D.J.4
Coffee, B.5
Zwick, M.E.6
Warren, S.T.7
-
71
-
-
15944384859
-
Microarray-based resequencing of multiple Bacillus anthracis isolates
-
Zwick, M.E., Mcafee, F., Cutler, D.J., Read, T.D., Ravel, J., Bowman, G.R., Galloway, D.R. and Mateczun, A. (2005) Microarray-based resequencing of multiple Bacillus anthracis isolates. Genome Biol., 6, R10.
-
(2005)
Genome Biol
, vol.6
-
-
Zwick, M.E.1
Mcafee, F.2
Cutler, D.J.3
Read, T.D.4
Ravel, J.5
Bowman, G.R.6
Galloway, D.R.7
Mateczun, A.8
-
72
-
-
84877350354
-
-
Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA. Accessed 12/2011. Available
-
Exome Variant Server, NHLBI Exome Sequencing Project (ESP), Seattle, WA. Accessed 12/2011. Available: http://evs.gs.washington.edu/EVS/viatheInternet.
-
-
-
-
73
-
-
84859865967
-
The UCSC Genome Browser database: extensions and updates 2011
-
Dreszer, T.R., Karolchik, D., Zweig, A.S., Hinrichs, A.S., Raney, B.J., Kuhn, R.M., Meyer, L.R., Wong, M., Sloan, C.A., Rosenbloom, K.R. et al. (2012) The UCSC Genome Browser database: extensions and updates 2011. Nucleic Acids Res., 40, D918-D923.
-
(2012)
Nucleic Acids Res
, vol.40
-
-
Dreszer, T.R.1
Karolchik, D.2
Zweig, A.S.3
Hinrichs, A.S.4
Raney, B.J.5
Kuhn, R.M.6
Meyer, L.R.7
Wong, M.8
Sloan, C.A.9
Rosenbloom, K.R.10
-
74
-
-
84877357521
-
-
Plink 1.0.7. Available
-
Plink 1.0.7. Available: http://pngu.mgh.harvard.edu/purcell/plink via the Internet.
-
-
-
-
75
-
-
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., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
-
(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
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.J.10
|