-
1
-
-
75749103383
-
Rate, molecular spectrum, and consequences of human mutation
-
pmid: 20080596
-
M. Lynch, Rate, molecular spectrum, and consequences of human mutation. Proc. Natl. Acad. Sci. U.S.A. 107, 961-968 (2010). doi: 10.1073/pnas.0912629107; pmid: 20080596
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 961-968
-
-
Lynch, M.1
-
2
-
-
84938879480
-
Somatic mosaicism in the human genome
-
pmid: 25513881
-
D. Freed, E. L. Stevens, J. Pevsner, Somatic mosaicism in the human genome. Genes (Basel) 5, 1064-1094 (2014). doi: 10.3390/genes5041064; pmid: 25513881
-
(2014)
Genes (Basel)
, vol.5
, pp. 1064-1094
-
-
Freed, D.1
Stevens, E.L.2
Pevsner, J.3
-
3
-
-
76549128519
-
Evolution in health and medicine sackler colloquium: Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration
-
pmid: 19805033
-
S. A. Frank, Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration. Proc. Natl. Acad. Sci. U.S.A. 107 (suppl. 1), 1725-1730 (2010). doi: 10.1073/pnas.0909343106; pmid: 19805033
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 1725-1730
-
-
Frank, S.A.1
-
4
-
-
84880720828
-
Genome mosaicism-one human, multiple genomes
-
pmid: 23888031
-
J. R. Lupski, Genome mosaicism-One human, multiple genomes. Science 341, 358-359 (2013). doi: 10.1126/science.1239503; pmid: 23888031
-
(2013)
Science
, vol.341
, pp. 358-359
-
-
Lupski, J.R.1
-
5
-
-
84945278558
-
Somatic mutation in single human neurons tracks developmental and transcriptional history
-
pmid: 26430121
-
M. A. Lodato et al., Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 350, 94-98 (2015). doi: 10.1126/science.aab1785; pmid: 26430121
-
(2015)
Science
, vol.350
, pp. 94-98
-
-
Lodato, M.A.1
-
6
-
-
84887315590
-
Mosaic copy number variation in human neurons
-
pmid: 24179226
-
M. J. McConnell et al., Mosaic copy number variation in human neurons. Science 342, 632-637 (2013). doi: 10.1126/science.1243472; pmid: 24179226
-
(2013)
Science
, vol.342
, pp. 632-637
-
-
McConnell, M.J.1
-
7
-
-
84958675616
-
Assessment of megabasescale somatic copy number variation using single-cell sequencing
-
pmid: 26772196
-
K. A. Knouse, J. Wu, A. Amon, Assessment of megabasescale somatic copy number variation using single-cell sequencing. Genome Res. 26, 376-384 (2016). doi: 10.1101/gr.198937.115; pmid: 26772196
-
(2016)
Genome Res.
, vol.26
, pp. 376-384
-
-
Knouse, K.A.1
Wu, J.2
Amon, A.3
-
8
-
-
84922584195
-
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain
-
pmid: 25159146
-
X. Cai et al., Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Reports 8, 1280-1289 (2014). doi: 10.1016/j.celrep.2014.07.043; pmid: 25159146
-
(2014)
Cell Reports
, vol.8
, pp. 1280-1289
-
-
Cai, X.1
-
9
-
-
20044379205
-
Constitutional aneuploidy in the normal human brain
-
pmid: 15745943
-
S. K. Rehen et al., Constitutional aneuploidy in the normal human brain. J. Neurosci. 25, 2176-2180 (2005). doi: 10.1523/JNEUROSCI.4560-04.2005; pmid: 15745943
-
(2005)
J. Neurosci.
, vol.25
, pp. 2176-2180
-
-
Rehen, S.K.1
-
10
-
-
37049012350
-
Aneuploidy and confined chromosomal mosaicism in the developing human brain
-
pmid: 17593959
-
Y. B. Yurov et al., Aneuploidy and confined chromosomal mosaicism in the developing human brain. PLOS ONE 2, e558 (2007). doi: 10.1371/journal.pone.0000558; pmid: 17593959
-
(2007)
PLOS ONE
, vol.2
, pp. e558
-
-
Yurov, Y.B.1
-
11
-
-
84927136066
-
Ubiquitous L1 mosaicism in hippocampal neurons
-
pmid: 25860606
-
K. R. Upton et al., Ubiquitous L1 mosaicism in hippocampal neurons. Cell 161, 228-239 (2015). doi: 10.1016/j.cell.2015.03.026; pmid: 25860606
-
(2015)
Cell
, vol.161
, pp. 228-239
-
-
Upton, K.R.1
-
12
-
-
81855178276
-
Somatic retrotransposition alters the genetic landscape of the human brain
-
pmid: 22037309
-
J. K. Baillie et al., Somatic retrotransposition alters the genetic landscape of the human brain. Nature 479, 534-537 (2011). doi: 10.1038/nature10531; pmid: 22037309
-
(2011)
Nature
, vol.479
, pp. 534-537
-
-
Baillie, J.K.1
-
13
-
-
84868032982
-
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
-
pmid: 23101622
-
G. D. Evrony et al., Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell 151, 483-496 (2012). doi: 10.1016/j.cell.2012.09.035; pmid: 23101622
-
(2012)
Cell
, vol.151
, pp. 483-496
-
-
Evrony, G.D.1
-
14
-
-
84961266736
-
Resolving rates of mutation in the brain using single-neuron genomics
-
pmid: 26901440
-
G. D. Evrony, E. Lee, P. J. Park, C. A. Walsh, Resolving rates of mutation in the brain using single-neuron genomics. eLife 5, e12966 (2016). doi: 10.7554/eLife.12966; pmid: 26901440
-
(2016)
ELife
, vol.5
, pp. e12966
-
-
Evrony, G.D.1
Lee, E.2
Park, P.J.3
Walsh, C.A.4
-
15
-
-
84987617362
-
L1-associated genomic regions are deleted in somatic cells of the healthy human brain
-
J. A. Erwin et al., L1-associated genomic regions are deleted in somatic cells of the healthy human brain. Nat. Neurosci. 19, 1583-1591 (2016).
-
(2016)
Nat. Neurosci.
, vol.19
, pp. 1583-1591
-
-
Erwin, J.A.1
-
16
-
-
84920746893
-
Cell lineage analysis in human brain using endogenous retroelements
-
pmid: 25569347
-
G. D. Evrony et al., Cell lineage analysis in human brain using endogenous retroelements. Neuron 85, 49-59 (2015). doi: 10.1016/j.neuron.2014.12.028; pmid: 25569347
-
(2015)
Neuron
, vol.85
, pp. 49-59
-
-
Evrony, G.D.1
-
17
-
-
79959924122
-
Development and evolution of the human neocortex
-
pmid: 21729779
-
J. H. Lui, D. V. Hansen, A. R. Kriegstein, Development and evolution of the human neocortex. Cell 146, 18-36 (2011). doi: 10.1016/j.cell.2011.06.030; pmid: 21729779
-
(2011)
Cell
, vol.146
, pp. 18-36
-
-
Lui, J.H.1
Hansen, D.V.2
Kriegstein, A.R.3
-
18
-
-
85016477787
-
Engineered LINE-1 retrotransposition in nondividing human neurons
-
A. Macia et al., Engineered LINE-1 retrotransposition in nondividing human neurons. Genome Res. 27, 335-348 (2017).
-
(2017)
Genome Res.
, vol.27
, pp. 335-348
-
-
Macia, A.1
-
19
-
-
33745593721
-
Generation of neuronal variability and complexity
-
pmid: 16810244
-
A. R. Muotri, F. H. Gage, Generation of neuronal variability and complexity. Nature 441, 1087-1093 (2006). doi: 10.1038/nature04959; pmid: 16810244
-
(2006)
Nature
, vol.441
, pp. 1087-1093
-
-
Muotri, A.R.1
Gage, F.H.2
-
20
-
-
84876703071
-
The genomically mosaic brain: Aneuploidy and more in neural diversity and disease
-
pmid: 23466288
-
D. M. Bushman, J. Chun, The genomically mosaic brain: Aneuploidy and more in neural diversity and disease. Semin. Cell Dev. Biol. 24, 357-369 (2013). doi: 10.1016/j. semcdb.2013.02.003; pmid: 23466288
-
(2013)
Semin. Cell Dev. Biol.
, vol.24
, pp. 357-369
-
-
Bushman, D.M.1
Chun, J.2
-
21
-
-
84912101541
-
The contribution of de novo coding mutations to autism spectrum disorder
-
pmid: 25363768
-
I. Iossifov et al., The contribution of de novo coding mutations to autism spectrum disorder. Nature 515, 216-221 (2014). doi: 10.1038/nature13908; pmid: 25363768
-
(2014)
Nature
, vol.515
, pp. 216-221
-
-
Iossifov, I.1
-
22
-
-
84990231487
-
The contribution of mosaic variants to autism spectrum disorder
-
pmid: 27632392
-
D. Freed, J. Pevsner, The contribution of mosaic variants to autism spectrum disorder. PLOS Genet. 12, e1006245 (2016). doi: 10.1371/journal.pgen.1006245; pmid: 27632392
-
(2016)
PLOS Genet.
, vol.12
, pp. e1006245
-
-
Freed, D.1
Pevsner, J.2
-
23
-
-
84893919352
-
De novo mutations in schizophrenia implicate synaptic networks
-
pmid: 24463507
-
M. Fromer et al., De novo mutations in schizophrenia implicate synaptic networks. Nature 506, 179-184 (2014). doi: 10.1038/nature12929; pmid: 24463507
-
(2014)
Nature
, vol.506
, pp. 179-184
-
-
Fromer, M.1
-
24
-
-
84858434210
-
CNVs: Harbingers of a rare variant revolution in psychiatric genetics
-
pmid: 22424231
-
D. Malhotra, J. Sebat, CNVs: Harbingers of a rare variant revolution in psychiatric genetics. Cell 148, 1223-1241 (2012). doi: 10.1016/j.cell.2012.02.039; pmid: 22424231
-
(2012)
Cell
, vol.148
, pp. 1223-1241
-
-
Malhotra, D.1
Sebat, J.2
-
25
-
-
84879756120
-
Somatic mutation, genomic variation, and neurological disease
-
pmid: 23828942
-
A. Poduri, G. D. Evrony, X. Cai, C. A. Walsh, Somatic mutation, genomic variation, and neurological disease. Science 341, 1237758 (2013). doi: 10.1126/science.1237758; pmid: 23828942
-
(2013)
Science
, vol.341
, pp. 1237758
-
-
Poduri, A.1
Evrony, G.D.2
Cai, X.3
Walsh, C.A.4
-
26
-
-
85014334912
-
Somatic mutations in disorders with disrupted brain connectivity
-
J. H. Lee, Somatic mutations in disorders with disrupted brain connectivity. Exp. Mol. Med. 48, e239 (2016).
-
(2016)
Exp. Mol. Med.
, vol.48
, pp. e239
-
-
Lee, J.H.1
-
27
-
-
0033497924
-
Nonhomologous end-joining proteins are required for V(D)J recombination, normal growth, and neurogenesis
-
pmid: 11232282
-
J. M. Sekiguchi et al., Nonhomologous end-joining proteins are required for V(D)J recombination, normal growth, and neurogenesis. Cold Spring Harb. Symp. Quant. Biol. 64, 169-181 (1999). doi: 10.1101/sqb.1999.64.169; pmid: 11232282
-
(1999)
Cold Spring Harb. Symp. Quant. Biol.
, vol.64
, pp. 169-181
-
-
Sekiguchi, J.M.1
-
28
-
-
0033634973
-
DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway
-
pmid: 10911993
-
K. M. Frank et al., DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway. Mol. Cell 5, 993-1002 (2000). doi: 10.1016/S1097-2765(00)80264-6; pmid: 10911993
-
(2000)
Mol. Cell
, vol.5
, pp. 993-1002
-
-
Frank, K.M.1
-
29
-
-
4644245822
-
Failed clearance of aneuploid embryonic neural progenitor cells leads to excess aneuploidy in the atm-deficient but not the trp53-deficient adult cerebral cortex
-
pmid: 15371510
-
M. J. McConnell et al., Failed clearance of aneuploid embryonic neural progenitor cells leads to excess aneuploidy in the Atm-deficient but not the Trp53-deficient adult cerebral cortex. J. Neurosci. 24, 8090-8096 (2004). doi: 10.1523/JNEUROSCI.2263-04.2004; pmid: 15371510
-
(2004)
J. Neurosci.
, vol.24
, pp. 8090-8096
-
-
McConnell, M.J.1
-
30
-
-
84855477961
-
Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells
-
pmid: 22159035
-
N. G. Coufal et al., Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells. Proc. Natl. Acad. Sci. U.S.A. 108, 20382-20387 (2011). doi: 10.1073/pnas.1100273108; pmid: 22159035
-
(2011)
Proc. Natl. Acad. Sci. U.S.A.
, vol.108
, pp. 20382-20387
-
-
Coufal, N.G.1
-
31
-
-
67649859655
-
Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain
-
pmid: 19414482
-
I. Y. Iourov, S. G. Vorsanova, T. Liehr, A. D. Kolotii, Y. B. Yurov, Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain. Hum. Mol. Genet. 18, 2656-2669 (2009). doi: 10.1093/hmg/ddp207; pmid: 19414482
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2656-2669
-
-
Iourov, I.Y.1
Vorsanova, S.G.2
Liehr, T.3
Kolotii, A.D.4
Yurov, Y.B.5
-
32
-
-
77649188409
-
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
-
pmid: 20118933
-
J. Shen et al., Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat. Genet. 42, 245-249 (2010). doi: 10.1038/ng.526; pmid: 20118933
-
(2010)
Nat. Genet.
, vol.42
, pp. 245-249
-
-
Shen, J.1
-
33
-
-
84959194281
-
Mechanisms underlying structural variant formation in genomic disorders
-
pmid: 26924765
-
C. M. Carvalho, J. R. Lupski, Mechanisms underlying structural variant formation in genomic disorders. Nat. Rev. Genet. 17, 224-238 (2016). doi: 10.1038/nrg.2015.25; pmid: 26924765
-
(2016)
Nat. Rev. Genet.
, vol.17
, pp. 224-238
-
-
Carvalho, C.M.1
Lupski, J.R.2
-
34
-
-
42649120310
-
The APOBEC3 cytidine deaminases: An innate defensive network opposing exogenous retroviruses and endogenous retroelements
-
pmid: 18304004
-
Y. L. Chiu, W. C. Greene, The APOBEC3 cytidine deaminases: An innate defensive network opposing exogenous retroviruses and endogenous retroelements. Annu. Rev. Immunol. 26, 317-353 (2008). doi: 10.1146/annurev. immunol.26.021607.090350; pmid: 18304004
-
(2008)
Annu. Rev. Immunol.
, vol.26
, pp. 317-353
-
-
Chiu, Y.L.1
Greene, W.C.2
-
35
-
-
84862491928
-
Replication stress and mechanisms of CNV formation
-
pmid: 22365495
-
M. F. Arlt, T. E. Wilson, T. W. Glover, Replication stress and mechanisms of CNV formation. Curr. Opin. Genet. Dev. 22, 204-210 (2012). doi: 10.1016/j.gde.2012.01.009; pmid: 22365495
-
(2012)
Curr. Opin. Genet. Dev.
, vol.22
, pp. 204-210
-
-
Arlt, M.F.1
Wilson, T.E.2
Glover, T.W.3
-
36
-
-
67651098662
-
Mechanisms of change in gene copy number
-
pmid: 19597530
-
P. J. Hastings, J. R. Lupski, S. M. Rosenberg, G. Ira, Mechanisms of change in gene copy number. Nat. Rev. Genet. 10, 551-564 (2009). doi: 10.1038/nrg2593; pmid: 19597530
-
(2009)
Nat. Rev. Genet.
, vol.10
, pp. 551-564
-
-
Hastings, P.J.1
Lupski, J.R.2
Rosenberg, S.M.3
Ira, G.4
-
37
-
-
84958157371
-
Long neural genes harbor recurrent DNA break clusters in neural stem/progenitor cells
-
pmid: 26871630
-
P. C. Wei et al., Long neural genes harbor recurrent DNA break clusters in neural stem/progenitor cells. Cell 164, 644-655 (2016). doi: 10.1016/j.cell.2015.12.039; pmid: 26871630
-
(2016)
Cell
, vol.164
, pp. 644-655
-
-
Wei, P.C.1
-
38
-
-
84922359016
-
Large transcription units unify copy number variants and common fragile sites arising under replication stress
-
pmid: 25373142
-
T. E. Wilson et al., Large transcription units unify copy number variants and common fragile sites arising under replication stress. Genome Res. 25, 189-200 (2015). doi: 10.1101/gr.177121.114; pmid: 25373142
-
(2015)
Genome Res.
, vol.25
, pp. 189-200
-
-
Wilson, T.E.1
-
39
-
-
84883740518
-
Topoisomerases facilitate transcription of long genes linked to autism
-
pmid: 23995680
-
I. F. King et al., Topoisomerases facilitate transcription of long genes linked to autism. Nature 501, 58-62 (2013). doi: 10.1038/nature12504; pmid: 23995680
-
(2013)
Nature
, vol.501
, pp. 58-62
-
-
King, I.F.1
-
40
-
-
84929208641
-
Gene length matters in neurons
-
pmid: 25905808
-
M. J. Zylka, J. M. Simon, B. D. Philpot, Gene length matters in neurons. Neuron 86, 353-355 (2015). doi: 10.1016/j.neuron.2015.03.059; pmid: 25905808
-
(2015)
Neuron
, vol.86
, pp. 353-355
-
-
Zylka, M.J.1
Simon, J.M.2
Philpot, B.D.3
-
41
-
-
84928533445
-
Disruption of DNA-methylation-dependent long gene repression in rett syndrome
-
pmid: 25762136
-
H. W. Gabel et al., Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. Nature 522, 89-93 (2015). doi: 10.1038/nature14319; pmid: 25762136
-
(2015)
Nature
, vol.522
, pp. 89-93
-
-
Gabel, H.W.1
-
42
-
-
84952876465
-
The influence of LINE-1 and SINE retrotransposons on mammalian genomes
-
MDNA3-0061-2014, MDNA3-0061-2014
-
S. R. Richardson et al., The influence of LINE-1 and SINE retrotransposons on mammalian genomes. Microbiol. Spectr. 3, MDNA3-0061-2014 (2015). doi: 10.1128/microbiolspec. MDNA3-0061-2014
-
(2015)
Microbiol. Spectr.
, vol.3
-
-
Richardson, S.R.1
-
43
-
-
0027450385
-
Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition
-
pmid: 7679954
-
D. D. Luan, M. H. Korman, J. L. Jakubczak, T. H. Eickbush, Reverse transcription of R2Bm RNA is primed by a nick at the chromosomal target site: A mechanism for non-LTR retrotransposition. Cell 72, 595-605 (1993). doi: 10.1016/0092-8674(93)90078-5; pmid: 7679954
-
(1993)
Cell
, vol.72
, pp. 595-605
-
-
Luan, D.D.1
Korman, M.H.2
Jakubczak, J.L.3
Eickbush, T.H.4
-
44
-
-
0036613245
-
DNA repair mediated by endonuclease-independent LINE-1 retrotransposition
-
pmid: 12006980
-
T. A. Morrish et al., DNA repair mediated by endonuclease-independent LINE-1 retrotransposition. Nat. Genet. 31, 159-165 (2002). doi: 10.1038/ng898; pmid: 12006980
-
(2002)
Nat. Genet.
, vol.31
, pp. 159-165
-
-
Morrish, T.A.1
-
45
-
-
23844510228
-
Multiple fates of L1 retrotransposition intermediates in cultured human cells
-
pmid: 16107723
-
N. Gilbert, S. Lutz, T. A. Morrish, J. V. Moran, Multiple fates of L1 retrotransposition intermediates in cultured human cells. Mol. Cell. Biol. 25, 7780-7795 (2005). doi: 10.1128/MCB.25.17.7780-7795.2005; pmid: 16107723
-
(2005)
Mol. Cell. Biol.
, vol.25
, pp. 7780-7795
-
-
Gilbert, N.1
Lutz, S.2
Morrish, T.A.3
Moran, J.V.4
-
46
-
-
0037047396
-
Human l1 retrotransposition is associated with genetic instability in vivo
-
pmid: 12176320
-
D. E. Symer et al., Human l1 retrotransposition is associated with genetic instability in vivo. Cell 110, 327-338 (2002). doi: 10.1016/S0092-8674(02)00839-5; pmid: 12176320
-
(2002)
Cell
, vol.110
, pp. 327-338
-
-
Symer, D.E.1
-
47
-
-
0037047355
-
Genomic deletions created upon LINE-1 retrotransposition
-
pmid: 12176319
-
N. Gilbert, S. Lutz-Prigge, J. V. Moran, Genomic deletions created upon LINE-1 retrotransposition. Cell 110, 315-325 (2002). doi: 10.1016/S0092-8674(02)00828-0; pmid: 12176319
-
(2002)
Cell
, vol.110
, pp. 315-325
-
-
Gilbert, N.1
Lutz-Prigge, S.2
Moran, J.V.3
-
48
-
-
22844438250
-
A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease
-
pmid: 15983781
-
J. M. Chen, P. D. Stenson, D. N. Cooper, C. Férec, A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease. Hum. Genet. 117, 411-427 (2005). doi: 10.1007/s00439-005-1321-0; pmid: 15983781
-
(2005)
Hum. Genet.
, vol.117
, pp. 411-427
-
-
Chen, J.M.1
Stenson, P.D.2
Cooper, D.N.3
Férec, C.4
-
49
-
-
84971484777
-
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism
-
pmid: 27159400
-
G. M. Mirzaa et al., Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol. 73, 836-845 (2016). doi: 10.1001/jamaneurol.2016.0363; pmid: 27159400
-
(2016)
JAMA Neurol.
, vol.73
, pp. 836-845
-
-
Mirzaa, G.M.1
-
50
-
-
84946763306
-
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: A next-generation sequencing study
-
pmid: 26520804
-
G. M. Mirzaa et al., Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: A next-generation sequencing study. Lancet Neurol. 14, 1182-1195 (2015). doi: 10.1016/S1474-4422(15)00278-1; pmid: 26520804
-
(2015)
Lancet Neurol.
, vol.14
, pp. 1182-1195
-
-
Mirzaa, G.M.1
-
51
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
pmid: 22729224
-
J. B. Rivière et al., De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat. Genet. 44, 934-940 (2012). doi: 10.1038/ng.2331; pmid: 22729224
-
(2012)
Nat. Genet.
, vol.44
, pp. 934-940
-
-
Rivière, J.B.1
-
52
-
-
84991518992
-
Tuberous sclerosis complex
-
pmid: 27226234
-
E. P. Henske, S. Jóźwiak, J. C. Kingswood, J. R. Sampson, E. A. Thiele, Tuberous sclerosis complex. Nat. Rev. Dis. Primers 2, 16035 (2016). doi: 10.1038/nrdp.2016.35; pmid: 27226234
-
(2016)
Nat. Rev. Dis. Primers
, vol.2
, pp. 16035
-
-
Henske, E.P.1
Jóźwiak, S.2
Kingswood, J.C.3
Sampson, J.R.4
Thiele, E.A.5
-
53
-
-
84877957142
-
Sturge-weber syndrome and port-wine stains caused by somatic mutation in GNAQ
-
pmid: 23656586
-
M. D. Shirley et al., Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N. Engl. J. Med. 368, 1971-1979 (2013). doi: 10.1056/NEJMoa1213507; pmid: 23656586
-
(2013)
N. Engl. J. Med.
, vol.368
, pp. 1971-1979
-
-
Shirley, M.D.1
-
54
-
-
59049107421
-
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi
-
pmid: 19078957
-
C. D. Van Raamsdonk et al., Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457, 599-602 (2009). doi: 10.1038/nature07586; pmid: 19078957
-
(2009)
Nature
, vol.457
, pp. 599-602
-
-
Van Raamsdonk, C.D.1
-
55
-
-
84907313347
-
Somatic mutations in cerebral cortical malformations
-
pmid: 25140959
-
S. S. Jamuar et al., Somatic mutations in cerebral cortical malformations. N. Engl. J. Med. 371, 733-743 (2014). doi: 10.1056/NEJMoa1314432; pmid: 25140959
-
(2014)
N. Engl. J. Med.
, vol.371
, pp. 733-743
-
-
Jamuar, S.S.1
-
56
-
-
0344033815
-
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
-
pmid: 14581661
-
F. Sicca et al., Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 61, 1042-1046 (2003). doi: 10.1212/WNL.61.8.1042; pmid: 14581661
-
(2003)
Neurology
, vol.61
, pp. 1042-1046
-
-
Sicca, F.1
-
57
-
-
0034168369
-
Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin
-
pmid: 10987567
-
J. G. Gleeson, Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin. Curr. Opin. Neurol. 13, 121-125 (2000). doi: 10.1097/00019052-200004000-00002; pmid: 10987567
-
(2000)
Curr. Opin. Neurol.
, vol.13
, pp. 121-125
-
-
Gleeson, J.G.1
-
58
-
-
84893657126
-
Brain somatic mutations: The dark matter of psychiatric genetics?
-
pmid: 24342990
-
T. R. Insel, Brain somatic mutations: The dark matter of psychiatric genetics? Mol. Psychiatry 19, 156-158 (2014). doi: 10.1038/mp.2013.168; pmid: 24342990
-
(2014)
Mol. Psychiatry
, vol.19
, pp. 156-158
-
-
Insel, T.R.1
-
59
-
-
84949432392
-
Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms
-
pmid: 26637798
-
A. M. D'Gama et al., Targeted DNA sequencing from autism spectrum disorder brains implicates multiple genetic mechanisms. Neuron 88, 910-917 (2015). doi: 10.1016/j.neuron.2015.11.009; pmid: 26637798
-
(2015)
Neuron
, vol.88
, pp. 910-917
-
-
D'Gama, A.M.1
-
60
-
-
84860297457
-
De novo gene disruptions in children on the autistic spectrum
-
pmid: 22542183
-
I. Iossifov et al., De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285-299 (2012). doi: 10.1016/j.neuron.2012.04.009; pmid: 22542183
-
(2012)
Neuron
, vol.74
, pp. 285-299
-
-
Iossifov, I.1
-
61
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
pmid: 22495311
-
B. M. Neale et al., Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242-245 (2012). doi: 10.1038/nature11011; pmid: 22495311
-
(2012)
Nature
, vol.485
, pp. 242-245
-
-
Neale, B.M.1
-
62
-
-
34247481814
-
Strong association of de novo copy number mutations with autism
-
pmid: 17363630
-
J. Sebat et al., Strong association of de novo copy number mutations with autism. Science 316, 445-449 (2007). doi: 10.1126/science.1138659; pmid: 17363630
-
(2007)
Science
, vol.316
, pp. 445-449
-
-
Sebat, J.1
-
63
-
-
84959236937
-
Review: Cortical construction in autism spectrum disorder: Columns, connectivity and the subplate
-
pmid: 25630827
-
J. J. Hutsler, M. F. Casanova, Review: Cortical construction in autism spectrum disorder: Columns, connectivity and the subplate. Neuropathol. Appl. Neurobiol. 42, 115-134 (2016). doi: 10.1111/nan.12227; pmid: 25630827
-
(2016)
Neuropathol. Appl. Neurobiol.
, vol.42
, pp. 115-134
-
-
Hutsler, J.J.1
Casanova, M.F.2
-
64
-
-
84992677286
-
The neuroanatomy of autism - A developmental perspective
-
pmid: 27620360
-
A. P. Donovan, M. A. Basson, The neuroanatomy of autism - A developmental perspective. J. Anat. 230, 4-15 (2017). doi: 10.1111/joa.12542; pmid: 27620360
-
(2017)
J. Anat.
, vol.230
, pp. 4-15
-
-
Donovan, A.P.1
Basson, M.A.2
-
65
-
-
84976868789
-
Altered proliferation and networks in neural cells derived from idiopathic autistic individuals
-
M. C. Marchetto et al., Altered proliferation and networks in neural cells derived from idiopathic autistic individuals. Mol. Psychiatry, 10.1038/mp.2016.95 (2016).
-
(2016)
Mol. Psychiatry
-
-
Marchetto, M.C.1
-
66
-
-
84937212591
-
FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders
-
pmid: 26186191
-
J. Mariani et al., FOXG1-dependent dysregulation of GABA/glutamate neuron differentiation in autism spectrum disorders. Cell 162, 375-390 (2015). doi: 10.1016/j.cell.2015.06.034; pmid: 26186191
-
(2015)
Cell
, vol.162
, pp. 375-390
-
-
Mariani, J.1
-
67
-
-
84896918827
-
Patches of disorganization in the neocortex of children with autism
-
pmid: 24670167
-
R. Stoner et al., Patches of disorganization in the neocortex of children with autism. N. Engl. J. Med. 370, 1209-1219 (2014). doi: 10.1056/NEJMoa1307491; pmid: 24670167
-
(2014)
N. Engl. J. Med.
, vol.370
, pp. 1209-1219
-
-
Stoner, R.1
-
68
-
-
79959964671
-
Maternal infection and immune involvement in autism
-
pmid: 21482187
-
P. H. Patterson, Maternal infection and immune involvement in autism. Trends Mol. Med. 17, 389-394 (2011). doi: 10.1016/j.molmed.2011.03.001; pmid: 21482187
-
(2011)
Trends Mol. Med.
, vol.17
, pp. 389-394
-
-
Patterson, P.H.1
-
69
-
-
84959447961
-
The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring
-
pmid: 26822608
-
G. B. Choi et al., The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring. Science 351, 933-939 (2016). doi: 10.1126/science. aad0314; pmid: 26822608
-
(2016)
Science
, vol.351
, pp. 933-939
-
-
Choi, G.B.1
-
70
-
-
84866057053
-
Maternal immune activation increases neonatal mouse cortex thickness and cell density
-
pmid: 22570011
-
S. E. Smith, R. M. Elliott, M. P. Anderson, Maternal immune activation increases neonatal mouse cortex thickness and cell density. J. Neuroimmune Pharmacol. 7, 529-532 (2012). doi: 10.1007/s11481-012-9372-1; pmid: 22570011
-
(2012)
J. Neuroimmune Pharmacol.
, vol.7
, pp. 529-532
-
-
Smith, S.E.1
Elliott, R.M.2
Anderson, M.P.3
-
71
-
-
84858740384
-
Maternal immune activation yields offspring displaying mouse versions of the three core symptoms of autism
-
pmid: 22310922
-
N. V. Malkova, C. Z. Yu, E. Y. Hsiao, M. J. Moore, P. H. Patterson, Maternal immune activation yields offspring displaying mouse versions of the three core symptoms of autism. Brain Behav. Immun. 26, 607-616 (2012). doi: 10.1016/j.bbi.2012.01.011; pmid: 22310922
-
(2012)
Brain Behav. Immun.
, vol.26
, pp. 607-616
-
-
Malkova, N.V.1
Yu, C.Z.2
Hsiao, E.Y.3
Moore, M.J.4
Patterson, P.H.5
-
72
-
-
79960065931
-
Prenatal immune challenge compromises development of upper-layer but not deeper-layer neurons of the mouse cerebral cortex
-
pmid: 21674566
-
H. Soumiya, H. Fukumitsu, S. Furukawa, Prenatal immune challenge compromises development of upper-layer but not deeper-layer neurons of the mouse cerebral cortex. J. Neurosci. Res. 89, 1342-1350 (2011). doi: 10.1002/jnr.22636; pmid: 21674566
-
(2011)
J. Neurosci. Res.
, vol.89
, pp. 1342-1350
-
-
Soumiya, H.1
Fukumitsu, H.2
Furukawa, S.3
-
73
-
-
84892789989
-
Increased l1 retrotransposition in the neuronal genome in schizophrenia
-
pmid: 24389010
-
M. Bundo et al., Increased l1 retrotransposition in the neuronal genome in schizophrenia. Neuron 81, 306-313 (2014). doi: 10.1016/j.neuron.2013.10.053; pmid: 24389010
-
(2014)
Neuron
, vol.81
, pp. 306-313
-
-
Bundo, M.1
-
74
-
-
78549247463
-
L1 retrotransposition in neurons is modulated by MeCP2
-
pmid: 21085180
-
A. R. Muotri et al., L1 retrotransposition in neurons is modulated by MeCP2. Nature 468, 443-446 (2010). doi: 10.1038/nature09544; pmid: 21085180
-
(2010)
Nature
, vol.468
, pp. 443-446
-
-
Muotri, A.R.1
-
75
-
-
84976276942
-
Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain
-
pmid: 27339989
-
B. B. Lake et al., Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain. Science 352, 1586-1590 (2016). doi: 10.1126/science. aaf1204; pmid: 27339989
-
(2016)
Science
, vol.352
, pp. 1586-1590
-
-
Lake, B.B.1
-
76
-
-
84987784903
-
Prenatal and preimplantation genetic diagnosis
-
pmid: 27629932
-
J. R. Vermeesch, T. Voet, K. Devriendt, Prenatal and preimplantation genetic diagnosis. Nat. Rev. Genet. 17, 643-656 (2016). doi: 10.1038/nrg.2016.97; pmid: 27629932
-
(2016)
Nat. Rev. Genet.
, vol.17
, pp. 643-656
-
-
Vermeesch, J.R.1
Voet, T.2
Devriendt, K.3
-
77
-
-
84952690370
-
Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by nextgeneration sequencing with linkage analyses
-
pmid: 26712022
-
L. Yan et al., Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by nextgeneration sequencing with linkage analyses. Proc. Natl. Acad. Sci. U.S.A. 112, 15964-15969 (2015). doi: 10.1073/pnas.1523297113; pmid: 26712022
-
(2015)
Proc. Natl. Acad. Sci. U.S.A.
, vol.112
, pp. 15964-15969
-
-
Yan, L.1
-
78
-
-
84979520403
-
Comparison of variations detection between whole-genome amplification methods used in single-cell resequencing
-
pmid: 26251698
-
Y. Hou et al., Comparison of variations detection between whole-genome amplification methods used in single-cell resequencing. Gigascience 4, 37 (2015). doi: 10.1186/s13742-015-0068-3; pmid: 26251698
-
(2015)
Gigascience
, vol.4
, pp. 37
-
-
Hou, Y.1
-
79
-
-
34247489656
-
Mechanism of chimera formation during the multiple displacement amplification reaction
-
pmid: 17430586
-
R. S. Lasken, T. B. Stockwell, Mechanism of chimera formation during the multiple displacement amplification reaction. BMC Biotechnol. 7, 19 (2007). doi: 10.1186/1472-6750-7-19; pmid: 17430586
-
(2007)
BMC Biotechnol.
, vol.7
, pp. 19
-
-
Lasken, R.S.1
Stockwell, T.B.2
-
80
-
-
84871410004
-
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
-
pmid: 23160490
-
A. Abyzov et al., Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 492, 438-442 (2012). doi: 10.1038/nature11629; pmid: 23160490
-
(2012)
Nature
, vol.492
, pp. 438-442
-
-
Abyzov, A.1
-
81
-
-
84968662246
-
Clonal genotype and population structure inference from single-cell tumor sequencing
-
pmid: 27183439
-
A. Roth et al., Clonal genotype and population structure inference from single-cell tumor sequencing. Nat. Methods 13, 573-576 (2016). doi: 10.1038/nmeth.3867; pmid: 27183439
-
(2016)
Nat. Methods
, vol.13
, pp. 573-576
-
-
Roth, A.1
-
82
-
-
84964381098
-
Monovar: Single-nucleotide variant detection in single cells
-
pmid: 27088313
-
H. Zafar, Y. Wang, L. Nakhleh, N. Navin, K. Chen, Monovar: Single-nucleotide variant detection in single cells. Nat. Methods 13, 505-507 (2016). doi: 10.1038/nmeth.3835; pmid: 27088313
-
(2016)
Nat. Methods
, vol.13
, pp. 505-507
-
-
Zafar, H.1
Wang, Y.2
Nakhleh, L.3
Navin, N.4
Chen, K.5
-
83
-
-
84946488247
-
Interactive analysis and assessment of singlecell copy-number variations
-
pmid: 26344043
-
T. Garvin et al., Interactive analysis and assessment of singlecell copy-number variations. Nat. Methods 12, 1058-1060 (2015). doi: 10.1038/nmeth.3578; pmid: 26344043
-
(2015)
Nat. Methods
, vol.12
, pp. 1058-1060
-
-
Garvin, T.1
-
84
-
-
84960805198
-
The complete genome sequences, unique mutational spectra, and developmental potency of adult neurons revealed by cloning
-
pmid: 26948891
-
J. L. Hazen et al., The complete genome sequences, unique mutational spectra, and developmental potency of adult neurons revealed by cloning. Neuron 89, 1223-1236 (2016). doi: 10.1016/j.neuron.2016.02.004; pmid: 26948891
-
(2016)
Neuron
, vol.89
, pp. 1223-1236
-
-
Hazen, J.L.1
-
85
-
-
84874025843
-
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
-
pmid: 23396013
-
K. Cibulskis et al., Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat. Biotechnol. 31, 213-219 (2013). doi: 10.1038/nbt.2514; pmid: 23396013
-
(2013)
Nat. Biotechnol.
, vol.31
, pp. 213-219
-
-
Cibulskis, K.1
-
86
-
-
69949122158
-
Var scan: Variant detection in massively parallel sequencing of individual and pooled samples
-
pmid: 19542151
-
D. C. Koboldt et al., Var Scan: Variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics 25, 2283-2285 (2009). doi: 10.1093/bioinformatics/btp373; pmid: 19542151
-
(2009)
Bioinformatics
, vol.25
, pp. 2283-2285
-
-
Koboldt, D.C.1
-
87
-
-
84973530151
-
Resolving complex structural genomic rearrangements using a randomized approach
-
pmid: 27287201
-
X. Zhao, S. B. Emery, B. Myers, J. M. Kidd, R. E. Mills, Resolving complex structural genomic rearrangements using a randomized approach. Genome Biol. 17, 126 (2016). doi: 10.1186/s13059-016-0993-1; pmid: 27287201
-
(2016)
Genome Biol.
, vol.17
, pp. 126
-
-
Zhao, X.1
Emery, S.B.2
Myers, B.3
Kidd, J.M.4
Mills, R.E.5
-
88
-
-
84982824750
-
Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants
-
pmid: 27260798
-
R. Xi, S. Lee, Y. Xia, T.-M. Kim, P. J. Park, Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants. Nucleic Acids Res. 44, 6274-6286 (2016). doi: 10.1093/nar/gkw491; pmid: 27260798
-
(2016)
Nucleic Acids Res.
, vol.44
, pp. 6274-6286
-
-
Xi, R.1
Lee, S.2
Xia, Y.3
Kim, T.-M.4
Park, P.J.5
-
89
-
-
84912096454
-
LUMPY: A probabilistic framework for structural variant discovery
-
pmid: 24970577
-
R. M. Layer, C. Chiang, A. R. Quinlan, I. M. Hall, LUMPY: A probabilistic framework for structural variant discovery. Genome Biol. 15, R84 (2014). doi: 10.1186/gb-2014-15-6-r84; pmid: 24970577
-
(2014)
Genome Biol.
, vol.15
, pp. R84
-
-
Layer, R.M.1
Chiang, C.2
Quinlan, A.R.3
Hall, I.M.4
-
90
-
-
84905281076
-
Variant detection sensitivity and biases in whole genome and exome sequencing
-
pmid: 25038816
-
A. M. Meynert, M. Ansari, D. R. Fitz Patrick, M. S. Taylor, Variant detection sensitivity and biases in whole genome and exome sequencing. BMC Bioinformatics 15, 247 (2014). doi: 10.1186/1471-2105-15-247; pmid: 25038816
-
(2014)
BMC Bioinformatics
, vol.15
, pp. 247
-
-
Meynert, A.M.1
Ansari, M.2
Fitz Patrick, D.R.3
Taylor, M.S.4
-
91
-
-
84865285978
-
Landscape of somatic retrotransposition in human cancers
-
pmid: 22745252
-
E. Lee et al., Landscape of somatic retrotransposition in human cancers. Science 337, 967-971 (2012). doi: 10.1126/science.1222077; pmid: 22745252
-
(2012)
Science
, vol.337
, pp. 967-971
-
-
Lee, E.1
-
92
-
-
80052318161
-
A comprehensive map of mobile element insertion polymorphisms in humans
-
pmid: 21876680
-
C. Stewart et al., A comprehensive map of mobile element insertion polymorphisms in humans. PLOS Genet. 7, e1002236 (2011). doi: 10.1371/journal.pgen.1002236; pmid: 21876680
-
(2011)
PLOS Genet.
, vol.7
, pp. e1002236
-
-
Stewart, C.1
-
93
-
-
84913546448
-
L1 retrotransposons and somatic mosaicism in the brain
-
pmid: 25036377
-
S. R. Richardson, S. Morell, G. J. Faulkner, L1 retrotransposons and somatic mosaicism in the brain. Annu. Rev. Genet. 48, 1-27 (2014). doi: 10.1146/annurev-genet-120213-092412; pmid: 25036377
-
(2014)
Annu. Rev. Genet.
, vol.48
, pp. 1-27
-
-
Richardson, S.R.1
Morell, S.2
Faulkner, G.J.3
-
94
-
-
84928027333
-
Calibrating genomic and allelic coverage bias in single-cell sequencing
-
pmid: 25879913
-
C. Z. Zhang et al., Calibrating genomic and allelic coverage bias in single-cell sequencing. Nat. Commun. 6, 6822 (2015). doi: 10.1038/ncomms7822; pmid: 25879913
-
(2015)
Nat. Commun.
, vol.6
, pp. 6822
-
-
Zhang, C.Z.1
-
95
-
-
81255175501
-
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number
-
pmid: 22035192
-
B. J. Hindson et al., High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal. Chem. 83, 8604-8610 (2011). doi: 10.1021/ac202028g; pmid: 22035192
-
(2011)
Anal. Chem.
, vol.83
, pp. 8604-8610
-
-
Hindson, B.J.1
-
96
-
-
51549095601
-
Somatic mosaicism for copy number variation in differentiated human tissues
-
pmid: 18570184
-
A. Piotrowski et al., Somatic mosaicism for copy number variation in differentiated human tissues. Hum. Mutat. 29, 1118-1124 (2008). doi: 10.1002/humu.20815; pmid: 18570184
-
(2008)
Hum. Mutat.
, vol.29
, pp. 1118-1124
-
-
Piotrowski, A.1
-
97
-
-
84868130720
-
Extensive genetic variation in somatic human tissues
-
pmid: 23043118
-
M. O'Huallachain, K. J. Karczewski, S. M. Weissman, A. E. Urban, M. P. Snyder, Extensive genetic variation in somatic human tissues. Proc. Natl. Acad. Sci. U.S.A. 109, 18018-18023 (2012). doi: 10.1073/pnas.1213736109; pmid: 23043118
-
(2012)
Proc. Natl. Acad. Sci. U.S.A.
, vol.109
, pp. 18018-18023
-
-
O'Huallachain, M.1
Karczewski, K.J.2
Weissman, S.M.3
Urban, A.E.4
Snyder, M.P.5
-
98
-
-
20544466648
-
Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition
-
pmid: 15959507
-
A. R. Muotri et al., Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition. Nature 435, 903-910 (2005). doi: 10.1038/nature03663; pmid: 15959507
-
(2005)
Nature
, vol.435
, pp. 903-910
-
-
Muotri, A.R.1
-
99
-
-
69349096044
-
L1 retrotransposition in human neural progenitor cells
-
pmid: 19657334
-
N. G. Coufal et al., L1 retrotransposition in human neural progenitor cells. Nature 460, 1127-1131 (2009). doi: 10.1038/nature08248; pmid: 19657334
-
(2009)
Nature
, vol.460
, pp. 1127-1131
-
-
Coufal, N.G.1
-
100
-
-
84862129718
-
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome
-
pmid: 22658544
-
K. C. Kurek et al., Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am. J. Hum. Genet. 90, 1108-1115 (2012). doi: 10.1016/j.ajhg.2012.05.006; pmid: 22658544
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 1108-1115
-
-
Kurek, K.C.1
-
101
-
-
84864402732
-
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
-
pmid: 22729223
-
J. H. Lee et al., De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat. Genet. 44, 941-945 (2012). doi: 10.1038/ng.2329; pmid: 22729223
-
(2012)
Nat. Genet.
, vol.44
, pp. 941-945
-
-
Lee, J.H.1
-
102
-
-
84864409793
-
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA
-
pmid: 22729222
-
M. J. Lindhurst et al., Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat. Genet. 44, 928-933 (2012). doi: 10.1038/ng.2332; pmid: 22729222
-
(2012)
Nat. Genet.
, vol.44
, pp. 928-933
-
-
Lindhurst, M.J.1
-
103
-
-
84864400015
-
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
-
pmid: 22729224
-
J. B. Rivière et al., De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat. Genet. 44, 934-940 (2012). doi: 10.1038/ng.2331; pmid: 22729224
-
(2012)
Nat. Genet.
, vol.44
, pp. 934-940
-
-
Rivière, J.B.1
-
104
-
-
13944284494
-
Oncogenic mutations of PIK3CA in human cancers
-
pmid: 15467468
-
Y. Samuels, V. E. Velculescu, Oncogenic mutations of PIK3CA in human cancers. Cell Cycle 3, 1221-1224 (2004). doi: 10.4161/cc.3.10.1164; pmid: 15467468
-
(2004)
Cell Cycle
, vol.3
, pp. 1221-1224
-
-
Samuels, Y.1
Velculescu, V.E.2
-
105
-
-
84860389181
-
A mosaic activating mutation in AKT1 associated with the proteus syndrome
-
pmid: 21793738
-
M. J. Lindhurst et al., A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N. Engl. J. Med. 365, 611-619 (2011). doi: 10.1056/NEJMoa1104017; pmid: 21793738
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 611-619
-
-
Lindhurst, M.J.1
-
106
-
-
80055087787
-
An activating mutation of AKT2 and human hypoglycemia
-
pmid: 21979934
-
K. Hussain et al., An activating mutation of AKT2 and human hypoglycemia. Science 334, 474 (2011). doi: 10.1126/science.1210878; pmid: 21979934
-
(2011)
Science
, vol.334
, pp. 474
-
-
Hussain, K.1
-
107
-
-
84859646140
-
Somatic activation of AKT3 causes hemispheric developmental brain malformations
-
pmid: 22500628
-
A. Poduri et al., Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74, 41-48 (2012). doi: 10.1016/j.neuron.2012.03.010; pmid: 22500628
-
(2012)
Neuron
, vol.74
, pp. 41-48
-
-
Poduri, A.1
-
108
-
-
84931090578
-
Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy
-
pmid: 25799227
-
J. S. Lim et al., Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. Nat. Med. 21, 395-400 (2015). doi: 10.1038/nm.3824; pmid: 25799227
-
(2015)
Nat. Med.
, vol.21
, pp. 395-400
-
-
Lim, J.S.1
-
109
-
-
84878357685
-
A tumor suppressor complex with GAP activity for the rag GTPases that signal amino acid sufficiency to mTORC1
-
pmid: 23723238
-
L. Bar-Peled et al., A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 340, 1100-1106 (2013). doi: 10.1126/science.1232044; pmid: 23723238
-
(2013)
Science
, vol.340
, pp. 1100-1106
-
-
Bar-Peled, L.1
-
110
-
-
84925430981
-
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations
-
pmid: 25623524
-
S. Baulac et al., Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann. Neurol. 77, 675-683 (2015). doi: 10.1002/ana.24368; pmid: 25623524
-
(2015)
Ann. Neurol.
, vol.77
, pp. 675-683
-
-
Baulac, S.1
-
111
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
pmid: 8269512
-
European Chromosome 16 Tuberous Sclerosis Consortium, Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75, 1305-1315 (1993). doi: 10.1016/0092-8674(93)90618-Z; pmid: 8269512
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
112
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
pmid: 9242607
-
M. van Slegtenhorst et al., Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277, 805-808 (1997). doi: 10.1126/science.277.5327.805; pmid: 9242607
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
-
113
-
-
78649620521
-
Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma
-
pmid: 20805368
-
F. Bourdeaut et al., Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J. Med. Genet. 47, 859-862 (2010). doi: 10.1136/jmg.2009.075374; pmid: 20805368
-
(2010)
J. Med. Genet.
, vol.47
, pp. 859-862
-
-
Bourdeaut, F.1
-
114
-
-
79953720837
-
Absence of BRAF and HRAS mutations in eruptive spitz naevi
-
pmid: 21418173
-
S. Gantner et al., Absence of BRAF and HRAS mutations in eruptive Spitz naevi. Br. J. Dermatol. 164, 873-877 (2011). doi: 10.1111/j.1365-2133.2011.10210.x; pmid: 21418173
-
(2011)
Br. J. Dermatol.
, vol.164
, pp. 873-877
-
-
Gantner, S.1
-
115
-
-
34548069945
-
Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern
-
pmid: 17673550
-
C. Hafner et al., Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc. Natl. Acad. Sci. U.S.A. 104, 13450-13454 (2007). doi: 10.1073/pnas.0705218104; pmid: 17673550
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 13450-13454
-
-
Hafner, C.1
-
116
-
-
33746754183
-
Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi
-
pmid: 16841094
-
C. Hafner et al., Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J. Clin. Invest. 116, 2201-2207 (2006). doi: 10.1172/JCI28163; pmid: 16841094
-
(2006)
J. Clin. Invest.
, vol.116
, pp. 2201-2207
-
-
Hafner, C.1
-
117
-
-
0032767677
-
Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi
-
pmid: 10465111
-
T. Papp et al., Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi. J. Med. Genet. 36, 610-614 (1999). pmid: 10465111
-
(1999)
J. Med. Genet.
, vol.36
, pp. 610-614
-
-
Papp, T.1
-
118
-
-
0037228055
-
High frequency of BRAF mutations in nevi
-
pmid: 12447372
-
P. M. Pollock et al., High frequency of BRAF mutations in nevi. Nat. Genet. 33, 19-20 (2003). doi: 10.1038/ng1054; pmid: 12447372
-
(2003)
Nat. Genet.
, vol.33
, pp. 19-20
-
-
Pollock, P.M.1
-
119
-
-
0027245423
-
Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2
-
pmid: 8379998
-
G. A. Rouleau et al., Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature 363, 515-521 (1993). doi: 10.1038/363515a0; pmid: 8379998
-
(1993)
Nature
, vol.363
, pp. 515-521
-
-
Rouleau, G.A.1
-
120
-
-
0025326726
-
A major segment of the neurofibromatosis type 1 gene: CDNA sequence, genomic structure, and point mutations
-
pmid: 2114220
-
R. M. Cawthon et al., A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 62, 193-201 (1990). doi: 10.1016/0092-8674(90)90253-B; pmid: 2114220
-
(1990)
Cell
, vol.62
, pp. 193-201
-
-
Cawthon, R.M.1
-
121
-
-
78650488798
-
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH
-
pmid: 21031597
-
C. Garcia-Linares et al., Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH. Hum. Mutat. 32, 78-90 (2011). doi: 10.1002/humu.21387; pmid: 21031597
-
(2011)
Hum. Mutat.
, vol.32
, pp. 78-90
-
-
Garcia-Linares, C.1
-
122
-
-
79551573541
-
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
-
pmid: 21280148
-
L. Messiaen et al., Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum. Mutat. 32, 213-219 (2011). doi: 10.1002/humu.21418; pmid: 21280148
-
(2011)
Hum. Mutat.
, vol.32
, pp. 213-219
-
-
Messiaen, L.1
-
123
-
-
0033941724
-
NF1 gene and neurofibromatosis 1
-
pmid: 10625171
-
S. A. Rasmussen, J. M. Friedman, NF1 gene and neurofibromatosis 1. Am. J. Epidemiol. 151, 33-40 (2000). doi: 10.1093/oxfordjournals.aje.a010118; pmid: 10625171
-
(2000)
Am. J. Epidemiol.
, vol.151
, pp. 33-40
-
-
Rasmussen, S.A.1
Friedman, J.M.2
-
124
-
-
0025297599
-
Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
-
pmid: 2134734
-
M. R. Wallace et al., Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249, 181-186 (1990). doi: 10.1126/science.2134734; pmid: 2134734
-
(1990)
Science
, vol.249
, pp. 181-186
-
-
Wallace, M.R.1
-
125
-
-
84973442689
-
BRAF and RAS mutations in sporadic and secondary pyogenic granuloma
-
pmid: 26802240
-
L. Groesser et al., BRAF and RAS mutations in sporadic and secondary pyogenic granuloma. J. Invest. Dermatol. 136, 481-486 (2016). doi: 10.1038/JID.2015.376; pmid: 26802240
-
(2016)
J. Invest. Dermatol.
, vol.136
, pp. 481-486
-
-
Groesser, L.1
-
126
-
-
84983027370
-
KRAS, HRAS and egfr mutations in sporadic sebaceous gland hyperplasia
-
pmid: 26804118
-
L. Groesser et al., KRAS, HRAS and egfr mutations in sporadic sebaceous gland hyperplasia. Acta Derm. Venereol. 96, 737-741 (2016). pmid: 26804118
-
(2016)
Acta Derm. Venereol.
, vol.96
, pp. 737-741
-
-
Groesser, L.1
-
127
-
-
79953113625
-
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis
-
pmid: 21079152
-
J. E. Niemela et al., Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. Blood 117, 2883-2886 (2011). doi: 10.1182/blood-2010-07-295501; pmid: 21079152
-
(2011)
Blood
, vol.117
, pp. 2883-2886
-
-
Niemela, J.E.1
-
128
-
-
79953124749
-
Autoimmune lymphoproliferative syndromelike disease with somatic KRAS mutation
-
pmid: 21063026
-
M. Takagi et al., Autoimmune lymphoproliferative syndromelike disease with somatic KRAS mutation. Blood 117, 2887-2890 (2011). doi: 10.1182/blood-2010-08-301515; pmid: 21063026
-
(2011)
Blood
, vol.117
, pp. 2887-2890
-
-
Takagi, M.1
-
129
-
-
84877957142
-
Sturge-weber syndrome and port-wine stains caused by somatic mutation in GNAQ
-
pmid: 23656586
-
M. D. Shirley et al., Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N. Engl. J. Med. 368, 1971-1979 (2013). doi: 10.1056/NEJMoa1213507; pmid: 23656586
-
(2013)
N. Engl. J. Med.
, vol.368
, pp. 1971-1979
-
-
Shirley, M.D.1
-
130
-
-
84978144297
-
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis
-
pmid: 26778290
-
A. C. Thomas et al., Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis. J. Invest. Dermatol. 136, 770-778 (2016). doi: 10.1016/j.jid.2015.11.027; pmid: 26778290
-
(2016)
J. Invest. Dermatol.
, vol.136
, pp. 770-778
-
-
Thomas, A.C.1
-
131
-
-
84924231485
-
A somatic MAP3K3 mutation is associated with verrucous venous malformation
-
pmid: 25728774
-
J. A. Couto et al., A somatic MAP3K3 mutation is associated with verrucous venous malformation. Am. J. Hum. Genet. 96, 480-486 (2015). doi: 10.1016/j.ajhg.2015.01.007; pmid: 25728774
-
(2015)
Am. J. Hum. Genet.
, vol.96
, pp. 480-486
-
-
Couto, J.A.1
-
132
-
-
0025323257
-
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
-
pmid: 2109828
-
J. L. Patten et al., Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N. Engl. J. Med. 322, 1412-1419 (1990). doi: 10.1056/NEJM199005173222002; pmid: 2109828
-
(1990)
N. Engl. J. Med.
, vol.322
, pp. 1412-1419
-
-
Patten, J.L.1
-
133
-
-
0026694168
-
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-albright syndrome
-
pmid: 1594625
-
W. F. Schwindinger, C. A. Francomano, M. A. Levine, Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc. Natl. Acad. Sci. U.S.A. 89, 5152-5156 (1992). doi: 10.1073/pnas.89.11.5152; pmid: 1594625
-
(1992)
Proc. Natl. Acad. Sci. U.S.A.
, vol.89
, pp. 5152-5156
-
-
Schwindinger, W.F.1
Francomano, C.A.2
Levine, M.A.3
-
134
-
-
20144363192
-
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
-
pmid: 15781101
-
E. J. Baxter et al., Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365, 1054-1061 (2005). doi: 10.1016/S0140-6736(05)74230-6; pmid: 15781101
-
(2005)
Lancet
, vol.365
, pp. 1054-1061
-
-
Baxter, E.J.1
-
135
-
-
17644424955
-
A gain-of-function mutation of JAK2 in myeloproliferative disorders
-
pmid: 15858187
-
R. Kralovics et al., A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 352, 1779-1790 (2005). doi: 10.1056/NEJMoa051113; pmid: 15858187
-
(2005)
N. Engl. J. Med.
, vol.352
, pp. 1779-1790
-
-
Kralovics, R.1
-
136
-
-
77953701040
-
Mechanisms for variable expressivity of inherited SCN1A mutations causing dravet syndrome
-
pmid: 20522430
-
C. Depienne et al., Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J. Med. Genet. 47, 404-410 (2010). doi: 10.1136/jmg.2009.074328; pmid: 20522430
-
(2010)
J. Med. Genet.
, vol.47
, pp. 404-410
-
-
Depienne, C.1
-
137
-
-
80155148684
-
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study
-
pmid: 21702021
-
N. Tanaka et al., High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an International Multicenter Collaborative Study. Arthritis Rheum. 63, 3625-3632 (2011). doi: 10.1002/art.30512; pmid: 21702021
-
(2011)
Arthritis Rheum.
, vol.63
, pp. 3625-3632
-
-
Tanaka, N.1
-
138
-
-
34347326153
-
Deficiency of PORCN, a regulator of wnt signaling, is associated with focal dermal hypoplasia
-
pmid: 17546031
-
K. H. Grzeschik et al., Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat. Genet. 39, 833-835 (2007). doi: 10.1038/ng2052; pmid: 17546031
-
(2007)
Nat. Genet.
, vol.39
, pp. 833-835
-
-
Grzeschik, K.H.1
-
139
-
-
0027310539
-
Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria
-
pmid: 8500164
-
J. Takeda et al., Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell 73, 703-711 (1993). doi: 10.1016/0092-8674(93)90250-T; pmid: 8500164
-
(1993)
Cell
, vol.73
, pp. 703-711
-
-
Takeda, J.1
|