-
1
-
-
77954356949
-
Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study
-
Kasperaviciute D, Catarino CB, Heinzen EL, et al. Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study. Brain 2010; 133 (Pt 7):2136-2147.
-
(2010)
Brain
, vol.133
, pp. 2136-2147
-
-
Kasperaviciute, D.1
Catarino, C.B.2
Heinzen, E.L.3
-
2
-
-
84863012719
-
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
-
Guo Y, Baum LW, Sham PC, et al. Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese. Hum Mol Genet 2012; 21:1184-1189.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 1184-1189
-
-
Guo, Y.1
Baum, L.W.2
Sham, P.C.3
-
3
-
-
84870312067
-
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
-
EPICURE Consortium EMINet Consortium
-
EPICURE Consortium, EMINet Consortium. Steffens M, et al. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet 2012; 21:5359-5372.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5359-5372
-
-
Steffens, M.1
-
4
-
-
84884838178
-
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A
-
Kasperaviciute D, Catarino CB, Matarin M, et al. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain 2013; 136 (Pt 10):3140-3150.
-
(2013)
Brain
, vol.136
, pp. 3140-3150
-
-
Kasperaviciute, D.1
Catarino, C.B.2
Matarin, M.3
-
5
-
-
84890378918
-
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy
-
Speed D, Petrovski S, Tachmazidou I, et al. A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy. Hum Mol Genet 2014; 23:247-258.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 247-258
-
-
Speed, D.1
Petrovski, S.2
Tachmazidou, I.3
-
6
-
-
84908391631
-
Describing the genetic architecture of epilepsy through heritability analysis
-
Speed D, Obrien TJ, Palotie A, et al. Describing the genetic architecture of epilepsy through heritability analysis. Brain 2014; 137 (Pt 10):2680-2689.
-
(2014)
Brain
, vol.137
, pp. 2680-2689
-
-
Speed, D.1
Obrien, T.J.2
Palotie, A.3
-
7
-
-
84942076987
-
Genetic determinants of common epilepsies: A meta-Analysis of genome-wide association studies
-
ILAE consortium on Complex Epilepsies.
-
ILAE consortium on Complex Epilepsies. Genetic determinants of common epilepsies: a meta-Analysis of genome-wide association studies. Lancet Neurol 2014; 13:893-903.
-
(2014)
Lancet Neurol
, vol.13
, pp. 893-903
-
-
-
8
-
-
84922551032
-
Common variants associated with general and MMR vaccine-related febrile seizures
-
Feenstra B, Pasternak B, Geller F, et al. Common variants associated with general and MMR vaccine-related febrile seizures. Nat Genet 2014; 46:1274-1282.
-
(2014)
Nat Genet
, vol.46
, pp. 1274-1282
-
-
Feenstra, B.1
Pasternak, B.2
Geller, F.3
-
9
-
-
84901608878
-
Large-scale genomics unveils the genetic architecture of psychiatric disorders
-
Gratten J, Wray NR, KellerMC, Visscher PM. Large-scale genomics unveils the genetic architecture of psychiatric disorders. NatNeurosci2014;17:782-790.
-
(2014)
NatNeurosci
, vol.17
, pp. 782-790
-
-
Gratten, J.1
Wray, N.R.2
Keller, M.C.3
Visscher, P.M.4
-
10
-
-
84876665206
-
Power failure: Why small sample size undermines the reliability of neuroscience
-
Button KS, Ioannidis JPA, Mokrysz C, et al. Power failure: why small sample size undermines the reliability of neuroscience. Nat Rev Neurosci 2013; 14:365-376.
-
(2013)
Nat Rev Neurosci
, vol.14
, pp. 365-376
-
-
Button, K.S.1
Ioannidis, J.P.A.2
Mokrysz, C.3
-
11
-
-
84902316937
-
Structural genomic variation in childhood epilepsies with complex phenotypes
-
Helbig I, Swinkels MEM, Aten E, et al. Structural genomic variation in childhood epilepsies with complex phenotypes. Eur J Hum Genet 2014; 22:896-901.
-
(2014)
Eur J Hum Genet
, vol.22
, pp. 896-901
-
-
Helbig, I.1
Swinkels, M.E.M.2
Aten, E.3
-
12
-
-
84922978456
-
Copy number variations in children with brain malformations and refractory epilepsy
-
Wincent J, Kolbjer S, Martin D, et al. Copy number variations in children with brain malformations and refractory epilepsy. Am J Med Genet A 2015; 167A:512-523.
-
(2015)
Am J Med Genet A
, vol.167
, pp. 512-523
-
-
Wincent, J.1
Kolbjer, S.2
Martin, D.3
-
13
-
-
84861418024
-
Genotype-phenotype correlation in interstitial 6q deletions: A report of 12 new cases
-
Rosenfeld JA, Amrom D, Andermann E, et al. Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases. Neurogenetics 2012; 13:31-47.
-
(2012)
Neurogenetics
, vol.13
, pp. 31-47
-
-
Rosenfeld, J.A.1
Amrom, D.2
Andermann, E.3
-
14
-
-
84921414372
-
6q22.1 microdeletion and susceptibility to pediatric epilepsy
-
Szafranski P, Von Allmen GK, Graham BH, et al. 6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet 2015; 23:173-179.
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 173-179
-
-
Szafranski, P.1
Von Allmen, G.K.2
Graham, B.H.3
-
15
-
-
84975810789
-
Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
-
Lal D, Ruppert A-K, Trucks H, et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet 2015; 11:e1005226.
-
(2015)
PLoS Genet
, vol.11
, pp. e1005226
-
-
Lal, D.1
Ruppert, A.-K.2
Trucks, H.3
-
16
-
-
84911395683
-
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
-
16p11.2 microduplication as a risk factor Rolandic epilepsy
-
Reinthaler EM, Lal D, Lebon S, et al. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet 2014; 23:6069-6080. 16p11.2 microduplication as a risk factor Rolandic epilepsy.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 6069-6080
-
-
Reinthaler, E.M.1
Lal, D.2
Lebon, S.3
-
17
-
-
80053920983
-
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
-
Jacquemont S, Reymond A, Zufferey F, et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011; 478:97-102.
-
(2011)
Nature
, vol.478
, pp. 97-102
-
-
Jacquemont, S.1
Reymond, A.2
Zufferey, F.3
-
18
-
-
84937728425
-
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
-
Epilepsy Phenome/Genome Project Epi4K Consortium.
-
Epilepsy Phenome/Genome Project Epi4K Consortium. Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy. Ann Neurol 2015; 78:323-328.
-
(2015)
Ann Neurol
, vol.78
, pp. 323-328
-
-
-
19
-
-
84936758676
-
Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome
-
Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, et al. Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. Hum Genet 2015; 134:649-658.
-
(2015)
Hum Genet
, vol.134
, pp. 649-658
-
-
Hino-Fukuyo, N.1
Kikuchi, A.2
Arai-Ichinoi, N.3
-
20
-
-
84923289875
-
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
-
Boutry-Kryza N, Labalme A, Ville D, et al. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. Eur J Med Genet 2015; 58:51-58.
-
(2015)
Eur J Med Genet
, vol.58
, pp. 51-58
-
-
Boutry-Kryza, N.1
Labalme, A.2
Ville, D.3
-
21
-
-
84884130368
-
De novo mutations in epileptic encephalopathies
-
Epi4K Consortium, Epilepsy Phenome/Genome Project
-
Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature 2013; 501:217-221.
-
(2013)
Nature
, vol.501
, pp. 217-221
-
-
-
22
-
-
84902536437
-
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
-
Du X, An Y, Yu L, et al. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Med Genet 2014; 15:62.
-
(2014)
BMC Med Genet
, vol.15
, pp. 62
-
-
Du, X.1
An, Y.2
Yu, L.3
-
23
-
-
84943171338
-
A global reference for human genetic variation
-
1000 Genomes Project Consortium
-
A1000 Genomes Project Consortium. Auton A, Brooks LD, et al. A global reference for human genetic variation. Nature 2015; 526:68-74.
-
(2015)
Nature
, vol.526
, pp. 68-74
-
-
Auton, A.1
Brooks, L.D.2
-
24
-
-
84941702459
-
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
-
Huang J, Howie B, McCarthy S, et al. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun 2015; 6:8111.
-
(2015)
Nat Commun
, vol.6
, pp. 8111
-
-
Huang, J.1
Howie, B.2
McCarthy, S.3
-
25
-
-
84927128250
-
Whole-genome CNV analysis: Advances in computational approaches
-
Pirooznia M, Goes FS, Zandi PP. Whole-genome CNV analysis: advances in computational approaches. Front Genet 2015; 6:138.
-
(2015)
Front Genet
, vol.6
, pp. 138
-
-
Pirooznia, M.1
Goes, F.S.2
Zandi, P.P.3
-
26
-
-
84921803785
-
Epilepsy Phenome/Genome Project, Epi4K Consortium. de novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
-
EuroEPINOMICS-RES Consortium
-
EuroEPINOMICS-RES Consortium, Epilepsy Phenome/Genome Project, Epi4K Consortium. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies. Am J Hum Genet 2014; 95:360-370.
-
(2014)
Am J Hum Genet
, vol.95
, pp. 360-370
-
-
-
27
-
-
33947123754
-
The spectrum of SCN1Arelated infantile epileptic encephalopathies
-
Harkin LA, McMahon JM, Iona X, et al. The spectrum of SCN1Arelated infantile epileptic encephalopathies. Brain 2007; 130 (Pt 3):843-852.
-
(2007)
Brain
, vol.130
, pp. 843-852
-
-
Harkin, L.A.1
McMahon, J.M.2
Iona, X.3
-
28
-
-
79851487367
-
Synthetic associations created by rare variants do not explain most GWAS results
-
Wray NR, Purcell SM, Visscher PM. Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol 2011; 9:e1000579.
-
(2011)
PLoS Biol
, vol.9
, pp. e1000579
-
-
Wray, N.R.1
Purcell, S.M.2
Visscher, P.M.3
-
29
-
-
84874770275
-
Properties and modeling of GWAS when complex disease risk is due to noncomplementing, deleterious mutations in genes of large effect
-
Thornton KR, Foran AJ, Long AD. Properties and modeling of GWAS when complex disease risk is due to noncomplementing, deleterious mutations in genes of large effect. PLoS Genet 2013; 9:e1003258.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003258
-
-
Thornton, K.R.1
Foran, A.J.2
Long, A.D.3
-
30
-
-
84942279459
-
Genetics and genomics of psychiatric disease
-
Geschwind DH, Flint J. Genetics and genomics of psychiatric disease. Science 2015; 349:1489-1494.
-
(2015)
Science
, vol.349
, pp. 1489-1494
-
-
Geschwind, D.H.1
Flint, J.2
|