-
1
-
-
33748987340
-
HLA-B locus in Caucasian patients with carbamazepine hypersensitivity
-
DOI 10.2217/14622416.7.6.813
-
A. Alfirevic, A.L. Jorgensen, P.R. Williamson, D.W. Chadwick, B.K. Park, and M. Pirmohamed HLA-B locus in Caucasian patients with carbamazepine hypersensitivity Pharmacogenomics 7 6 2006 813 818 (Pubitemid 44446732)
-
(2006)
Pharmacogenomics
, vol.7
, Issue.6
, pp. 813-818
-
-
Alfirevic, A.1
Jorgensen, A.L.2
Williamson, P.R.3
Chadwick, D.W.4
Park, B.K.5
Pirmohamed, M.6
-
2
-
-
84867544196
-
Looking back at genomic medicine in 2011
-
C. Auffray, T. Caulfield, M.J. Khoury, J.R. Lupski, M. Schwab, and T. Veenstra Looking back at genomic medicine in 2011 Genome Medicine 4 1 2012 9
-
(2012)
Genome Medicine
, vol.4
, Issue.1
, pp. 9
-
-
Auffray, C.1
Caulfield, T.2
Khoury, M.J.3
Lupski, J.R.4
Schwab, M.5
Veenstra, T.6
-
3
-
-
0032819729
-
Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin
-
DOI 10.1046/j.1365-2125.1999.00012.x
-
A.S. Aynacioglu, J. Brockmoller, S. Bauer, C. Sachse, P. Guzelbey, and Z. Ongen Frequency of cytochrome P450 CYP2C9 variants in a Turkish population and functional relevance for phenytoin British Journal of Clinical Pharmacology 48 3 1999 409 415 (Pubitemid 29417726)
-
(1999)
British Journal of Clinical Pharmacology
, vol.48
, Issue.3
, pp. 409-415
-
-
Sukru Aynacioglu, A.1
Brockmoller, J.2
Bauer, S.3
Sachse, C.4
Guzelbey, P.5
Ongen, Z.6
Nacak, M.7
Roots, I.8
-
4
-
-
84055193413
-
Linkage analysis in the next-generation sequencing era
-
J.E. Bailey-Wilson, and A.F. Wilson Linkage analysis in the next-generation sequencing era Human Heredity 72 4 2011 228 236
-
(2011)
Human Heredity
, vol.72
, Issue.4
, pp. 228-236
-
-
Bailey-Wilson, J.E.1
Wilson, A.F.2
-
5
-
-
77950865193
-
Towards a modern classification of the epilepsies?
-
A.T. Berg, and J.H. Cross Towards a modern classification of the epilepsies? Lancet Neurology 9 5 2010 459 461
-
(2010)
Lancet Neurology
, vol.9
, Issue.5
, pp. 459-461
-
-
Berg, A.T.1
Cross, J.H.2
-
6
-
-
0031748082
-
Epilepsies in twins: Genetics of the major epilepsy syndromes
-
DOI 10.1002/ana.410430405
-
S.F. Berkovic, R.A. Howell, D.A. Hay, and J.L. Hopper Epilepsies in twins: Genetics of the major epilepsy syndromes Annals of Neurology 43 4 1998 435 445 (Pubitemid 28231717)
-
(1998)
Annals of Neurology
, vol.43
, Issue.4
, pp. 435-445
-
-
Berkovic, S.F.1
Howell, R.A.2
Hay, D.A.3
Hopper, J.L.4
-
7
-
-
33746302765
-
Human epilepsies: Interaction of genetic and acquired factors
-
DOI 10.1016/j.tins.2006.05.009, PII S016622360600110X
-
S.F. Berkovic, J.C. Mulley, I.E. Scheffer, and S. Petrou Human epilepsies: Interaction of genetic and acquired factors Trends in Neurosciences 29 7 2006 391 397 (Pubitemid 44108246)
-
(2006)
Trends in Neurosciences
, vol.29
, Issue.7
, pp. 391-397
-
-
Berkovic, S.F.1
Mulley, J.C.2
Scheffer, I.E.3
Petrou, S.4
-
8
-
-
0019302053
-
Construction of a genetic linkage map in man using restriction fragment length polymorphisms
-
D. Botstein, R.L. White, M. Skolnick, and R.W. Davis Construction of a genetic linkage map in man using restriction fragment length polymorphisms American Journal of Human Genetics 32 3 1980 314 331 (Pubitemid 11105557)
-
(1980)
American Journal of Human Genetics
, vol.32
, Issue.3
, pp. 314-331
-
-
Botstein, D.1
White, R.L.2
Skolnick, M.3
Davis, R.W.4
-
9
-
-
0036980077
-
Interpretation of genetic association studies in complex disease
-
H. Campbell, and I. Rudan Interpretation of genetic association studies in complex disease The Pharmacogenomics Journal 2 6 2002 349 360 (Pubitemid 36175797)
-
(2002)
Pharmacogenomics Journal
, vol.2
, Issue.6
, pp. 349-360
-
-
Campbell, H.1
Rudan, I.2
-
10
-
-
77952818259
-
Genetic overlap between autism, schizophrenia and bipolar disorder
-
L.S. Carroll, and M.J. Owen Genetic overlap between autism, schizophrenia and bipolar disorder Genome Medicine 1 10 2009 102
-
(2009)
Genome Medicine
, vol.1
, Issue.10
, pp. 102
-
-
Carroll, L.S.1
Owen, M.J.2
-
11
-
-
23444437212
-
Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: Where to from here?
-
DOI 10.1093/brain/awh524
-
G.L. Cavalleri, J.M. Lynch, C. Depondt, M.W. Burley, N.W. Wood, and S.M. Sisodiya Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: Where to from here? Brain 128 Pt 8 2005 1832 1840 (Pubitemid 41373654)
-
(2005)
Brain
, vol.128
, Issue.8
, pp. 1832-1840
-
-
Cavalleri, G.L.1
Lynch, J.M.2
Depondt, C.3
Burley, M.-W.4
Wood, N.W.5
Sisodiya, S.M.6
Goldstein, D.B.7
-
12
-
-
80054890105
-
Pharmacogenomics and epilepsy: The road ahead
-
G.L. Cavalleri, M. McCormack, S. Alhusaini, E. Chaila, and N. Delanty Pharmacogenomics and epilepsy: The road ahead Pharmacogenomics 12 10 2011 1429 1447
-
(2011)
Pharmacogenomics
, vol.12
, Issue.10
, pp. 1429-1447
-
-
Cavalleri, G.L.1
McCormack, M.2
Alhusaini, S.3
Chaila, E.4
Delanty, N.5
-
13
-
-
79953216429
-
Taiwan SJS Consortium
-
P. Chen, J.J. Lin, C.S. Lu, C.T. Ong, P.F. Hsieh, and C.C. Yang Taiwan SJS Consortium The New England Journal of Medicine 364 12 2011 1126 1133
-
(2011)
The New England Journal of Medicine
, vol.364
, Issue.12
, pp. 1126-1133
-
-
Chen, P.1
Lin, J.J.2
Lu, C.S.3
Ong, C.T.4
Hsieh, P.F.5
Yang, C.C.6
-
14
-
-
1842784823
-
Medical genetics: A marker for Stevens-Johnson syndrome
-
W.H. Chung, S.I. Hung, H.S. Hong, M.S. Hsih, L.C. Yang, and H.C. Ho Medical genetics: A marker for Stevens-Johnson syndrome Nature 428 6982 2004 486
-
(2004)
Nature
, vol.428
, Issue.6982
, pp. 486
-
-
Chung, W.H.1
Hung, S.I.2
Hong, H.S.3
Hsih, M.S.4
Yang, L.C.5
Ho, H.C.6
-
15
-
-
3843056691
-
Multiple rare alleles contribute to low plasma levels of HDL cholesterol
-
DOI 10.1126/science.1099870
-
J.C. Cohen, R.S. Kiss, A. Pertsemlidis, Y.L. Marcel, R. McPherson, and H.H. Hobbs Multiple rare alleles contribute to low plasma levels of HDL cholesterol Science 305 5685 2004 869 872 (Pubitemid 39038422)
-
(2004)
Science
, vol.305
, Issue.5685
, pp. 869-872
-
-
Cohen, J.C.1
Kiss, R.S.2
Pertsemlidis, A.3
Marcel, Y.L.4
McPherson, R.5
Hobbs, H.H.6
-
16
-
-
84860570409
-
Next-generation sequencing: Ready for the clinics?
-
A.N. Desai, and A. Jere Next-generation sequencing: Ready for the clinics? Clinical Genetics 81 6 2012 503 510
-
(2012)
Clinical Genetics
, vol.81
, Issue.6
, pp. 503-510
-
-
Desai, A.N.1
Jere, A.2
-
17
-
-
16544380910
-
Genomic control to the extreme
-
author reply 1131
-
B. Devlin, S.A. Bacanu, and K. Roeder Genomic control to the extreme Nature Genetics 36 11 2004 1129 1130 author reply 1131
-
(2004)
Nature Genetics
, vol.36
, Issue.11
, pp. 1129-1130
-
-
Devlin, B.1
Bacanu, S.A.2
Roeder, K.3
-
18
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
DOI 10.1038/380152a0
-
C. Dib, S. Faure, C. Fizames, D. Samson, N. Drouot, and A. Vignal A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 6570 1996 152 154 (Pubitemid 26085878)
-
(1996)
Nature
, vol.380
, Issue.6570
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
19
-
-
0023663060
-
A genetic linkage map of the human genome
-
H. Donis-Keller, P. Green, C. Helms, S. Cartinhour, B. Weiffenbach, and K. Stephens A genetic linkage map of the human genome Cell 51 2 1987 319 337
-
(1987)
Cell
, vol.51
, Issue.2
, pp. 319-337
-
-
Donis-Keller, H.1
Green, P.2
Helms, C.3
Cartinhour, S.4
Weiffenbach, B.5
Stephens, K.6
-
20
-
-
33645745372
-
Adult epilepsy
-
J.S. Duncan, J.W. Sander, S.M. Sisodiya, and M.C. Walker Adult epilepsy The Lancet 367 9516 2006 1087 1100
-
(2006)
The Lancet
, vol.367
, Issue.9516
, pp. 1087-1100
-
-
Duncan, J.S.1
Sander, J.W.2
Sisodiya, S.M.3
Walker, M.C.4
-
21
-
-
84865023341
-
Epi4K: Gene discovery in 4,000 genomes
-
Epi4K: Gene discovery in 4,000 genomes. (2012). Epilepsia, 53(8), 1457-1467.
-
(2012)
Epilepsia
, vol.53
, Issue.8
, pp. 1457-1467
-
-
-
22
-
-
0018087680
-
Analysis of the β-δ-globin gene loci in normal and Hb Lepore DNA: Direct determination of gene linkage and intergene distance
-
R.A. Flavell, J.M. Kooter, E. De Boer, P.F. Little, and R. Williamson Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: Direct determination of gene linkage and intergene distance Cell 15 1 1978 25 41 (Pubitemid 9027508)
-
(1978)
Cell
, vol.15
, Issue.1
, pp. 25-41
-
-
Flavell, R.A.1
Kooter, J.M.2
De Boer, E.3
-
23
-
-
79951472909
-
Charting a course for genomic medicine from base pairs to bedside
-
E.D. Green, and M.S. Guyer Charting a course for genomic medicine from base pairs to bedside Nature 470 7333 2011 204 213
-
(2011)
Nature
, vol.470
, Issue.7333
, pp. 204-213
-
-
Green, E.D.1
Guyer, M.S.2
-
24
-
-
84863012719
-
Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese
-
Y. Guo, L.W. Baum, P.C. Sham, V. Wong, P.W. Ng, and C.H. Lui Two-stage genome-wide association study identifies variants in CAMSAP1L1 as susceptibility loci for epilepsy in Chinese Human Molecular Genetics 21 5 2012 1184 1189
-
(2012)
Human Molecular Genetics
, vol.21
, Issue.5
, pp. 1184-1189
-
-
Guo, Y.1
Baum, L.W.2
Sham, P.C.3
Wong, V.4
Ng, P.W.5
Lui, C.H.6
-
25
-
-
84864928152
-
Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
-
E.L. Heinzen, C. Depondt, G.L. Cavalleri, E.K. Ruzzo, N.M. Walley, and A.C. Need Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy The American Journal of Human Genetics 91 2 2012 293 302
-
(2012)
The American Journal of Human Genetics
, vol.91
, Issue.2
, pp. 293-302
-
-
Heinzen, E.L.1
Depondt, C.2
Cavalleri, G.L.3
Ruzzo, E.K.4
Walley, N.M.5
Need, A.C.6
-
26
-
-
77952096810
-
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
-
E.L. Heinzen, R.A. Radtke, T.J. Urban, G.L. Cavalleri, C. Depondt, and A.C. Need Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes American Journal of Human Genetics 86 5 2010 707 718
-
(2010)
American Journal of Human Genetics
, vol.86
, Issue.5
, pp. 707-718
-
-
Heinzen, E.L.1
Radtke, R.A.2
Urban, T.J.3
Cavalleri, G.L.4
Depondt, C.5
Need, A.C.6
-
27
-
-
59149096726
-
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
-
I. Helbig, H.C. Mefford, A.J. Sharp, M. Guipponi, M. Fichera, and A. Franke 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy Nature Genetics 41 2 2009 160 162
-
(2009)
Nature Genetics
, vol.41
, Issue.2
, pp. 160-162
-
-
Helbig, I.1
Mefford, H.C.2
Sharp, A.J.3
Guipponi, M.4
Fichera, M.5
Franke, A.6
-
28
-
-
38949127199
-
Navigating the channels and beyond: Unravelling the genetics of the epilepsies
-
DOI 10.1016/S1474-4422(08)70039-5, PII S1474442208700395
-
I. Helbig, I.E. Scheffer, J.C. Mulley, and S.F. Berkovic Navigating the channels and beyond: Unravelling the genetics of the epilepsies Lancet Neurology 7 3 2008 231 245 (Pubitemid 351215982)
-
(2008)
The Lancet Neurology
, vol.7
, Issue.3
, pp. 231-245
-
-
Helbig, I.1
Scheffer, I.E.2
Mulley, J.C.3
Berkovic, S.F.4
-
29
-
-
38649138348
-
Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation [1]
-
DOI 10.1111/j.1528-1167.2007.01439-2.x
-
N. Hindocha, L. Nashef, F. Elmslie, R. Birch, S. Zuberi, and A. Al-Chalabi Two cases of sudden unexpected death in epilepsy in a GEFS + family with an SCN1A mutation Epilepsia 49 2 2008 360 365 (Pubitemid 351172005)
-
(2008)
Epilepsia
, vol.49
, Issue.2
, pp. 360-365
-
-
Hindocha, N.1
Nashef, L.2
Elmslie, F.3
Birch, R.4
Zuberi, S.5
Al-Chalabi, A.6
Crotti, L.7
Schwartz, P.J.8
Makoff, A.9
-
30
-
-
80052859044
-
Genomics, health care, and society
-
K.L. Hudson Genomics, health care, and society The New England Journal of Medicine 365 11 2011 1033 1041
-
(2011)
The New England Journal of Medicine
, vol.365
, Issue.11
, pp. 1033-1041
-
-
Hudson, K.L.1
-
31
-
-
4744365530
-
Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms
-
C.C. Hung, C.J. Lin, C.C. Chen, C.J. Chang, and H.H. Liou Dosage recommendation of phenytoin for patients with epilepsy with different CYP2C9/CYP2C19 polymorphisms Therapeutic Drug Monitoring 26 5 2004 534 540
-
(2004)
Therapeutic Drug Monitoring
, vol.26
, Issue.5
, pp. 534-540
-
-
Hung, C.C.1
Lin, C.J.2
Chen, C.C.3
Chang, C.J.4
Liou, H.H.5
-
32
-
-
79959524146
-
A haplotype map of the human genome
-
International HapMap Consortium A haplotype map of the human genome Nature 437 7063 2005 1299 1320
-
(2005)
Nature
, vol.437
, Issue.7063
, pp. 1299-1320
-
-
Hapmap Consortium, I.1
-
33
-
-
77954356949
-
Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study
-
D. Kasperaviciute, C.B. Catarino, E.L. Heinzen, C. Depondt, G.L. Cavalleri, and L.O. Caboclo Common genetic variation and susceptibility to partial epilepsies: A genome-wide association study Brain 133 Pt 7 2010 2136 2147
-
(2010)
Brain
, vol.133
, Issue.PART 7
, pp. 2136-2147
-
-
Kasperaviciute, D.1
Catarino, C.B.2
Heinzen, E.L.3
Depondt, C.4
Cavalleri, G.L.5
Caboclo, L.O.6
-
34
-
-
0042932513
-
Epileptic seizures and syndromes in twins: The importance of genetic factors
-
DOI 10.1016/S0920-1211(03)00117-7
-
M.J. Kjeldsen, L.A. Corey, K. Christensen, and M.L. Friis Epileptic seizures and syndromes in twins: The importance of genetic factors Epilepsy Research 55 1-2 2003 137 146 (Pubitemid 37011378)
-
(2003)
Epilepsy Research
, vol.55
, Issue.1-2
, pp. 137-146
-
-
Kjeldsen, M.J.1
Corey, L.A.2
Christensen, K.3
Friis, M.L.4
-
35
-
-
20244380171
-
Complement factor H polymorphism in age-related macular degeneration
-
DOI 10.1126/science.1109557
-
R.J. Klein, C. Zeiss, E.Y. Chew, J.Y. Tsai, R.S. Sackler, and C. Haynes Complement factor H polymorphism in age-related macular degeneration Science 308 5720 2005 385 389 (Pubitemid 40530070)
-
(2005)
Science
, vol.308
, Issue.5720
, pp. 385-389
-
-
Klein, R.J.1
Zeiss, C.2
Chew, E.Y.3
Tsai, J.-Y.4
Sackler, R.S.5
Haynes, C.6
Henning, A.K.7
SanGiovanni, J.P.8
Mane, S.M.9
Mayne, S.T.10
Bracken, M.B.11
Ferris, F.L.12
Ott, J.13
Barnstable, C.14
Hoh, J.15
-
36
-
-
8844280819
-
A combined linkage-physical map of the human genome
-
DOI 10.1086/426405
-
X. Kong, K. Murphy, T. Raj, C. He, P.S. White, and T.C. Matise A combined linkage-physical map of the human genome American Journal of Human Genetics 75 6 2004 1143 1148 (Pubitemid 39532083)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.6
, pp. 1143-1148
-
-
Kong, X.1
Murphy, K.2
Raj, T.3
He, C.4
White, P.S.5
Matise, T.C.6
-
38
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
H. Lango Allen, K. Estrada, G. Lettre, S.I. Berndt, M.N. Weedon, and F. Rivadeneira Hundreds of variants clustered in genomic loci and biological pathways affect human height Nature 467 7317 2010 832 838
-
(2010)
Nature
, vol.467
, Issue.7317
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
Rivadeneira, F.6
-
39
-
-
77956317384
-
A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation
-
F. Le Gal, C.M. Korff, C. Monso-Hinard, M.T. Mund, M. Morris, and A. Malafosse A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation Epilepsia 51 9 2010 1915 1918
-
(2010)
Epilepsia
, vol.51
, Issue.9
, pp. 1915-1918
-
-
Le Gal, F.1
Korff, C.M.2
Monso-Hinard, C.3
Mund, M.T.4
Morris, M.5
Malafosse, A.6
-
40
-
-
84865020270
-
Targeted next generation sequencing as a diagnostic tool in epileptic disorders
-
J.R. Lemke, E. Riesch, T. Scheurenbrand, M. Schubach, C. Wilhelm, and I. Steiner Targeted next generation sequencing as a diagnostic tool in epileptic disorders Epilepsia 53 8 2012 1387 1398
-
(2012)
Epilepsia
, vol.53
, Issue.8
, pp. 1387-1398
-
-
Lemke, J.R.1
Riesch, E.2
Scheurenbrand, T.3
Schubach, M.4
Wilhelm, C.5
Steiner, I.6
-
41
-
-
39749181521
-
Worldwide human relationships inferred from genome-wide patterns of variation
-
DOI 10.1126/science.1153717
-
J.Z. Li, D.M. Absher, H. Tang, A.M. Southwick, A.M. Casto, and S. Ramachandran Worldwide human relationships inferred from genome-wide patterns of variation Science 319 5866 2008 1100 1104 (Pubitemid 351300793)
-
(2008)
Science
, vol.319
, Issue.5866
, pp. 1100-1104
-
-
Li, J.Z.1
Absher, D.M.2
Tang, H.3
Southwick, A.M.4
Casto, A.M.5
Ramachandran, S.6
Cann, H.M.7
Barsh, G.S.8
Feldman, M.9
Cavalli-Sforza, L.L.10
Myers, R.M.11
-
42
-
-
82355169007
-
Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies
-
D. Li, J.P. Lewinger, W.J. Gauderman, C.E. Murcray, and D. Conti Using extreme phenotype sampling to identify the rare causal variants of quantitative traits in association studies Genetic Epidemiology 35 8 2011 790 799
-
(2011)
Genetic Epidemiology
, vol.35
, Issue.8
, pp. 790-799
-
-
Li, D.1
Lewinger, J.P.2
Gauderman, W.J.3
Murcray, C.E.4
Conti, D.5
-
43
-
-
38149108354
-
A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs
-
C. Lonjou, N. Borot, P. Sekula, N. Ledger, L. Thomas, and S. Halevy A European study of HLA-B in Stevens-Johnson syndrome and toxic epidermal necrolysis related to five high-risk drugs Pharmacogenetics and Genomics 18 2 2008 99 107
-
(2008)
Pharmacogenetics and Genomics
, vol.18
, Issue.2
, pp. 99-107
-
-
Lonjou, C.1
Borot, N.2
Sekula, P.3
Ledger, N.4
Thomas, L.5
Halevy, S.6
-
44
-
-
77950475726
-
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
-
J.R. Lupski, J.G. Reid, C. Gonzaga-Jauregui, D. Rio Deiros, D.C. Chen, and L. Nazareth Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy The New England Journal of Medicine 362 13 2010 1181 1191
-
(2010)
The New England Journal of Medicine
, vol.362
, Issue.13
, pp. 1181-1191
-
-
Lupski, J.R.1
Reid, J.G.2
Gonzaga-Jauregui, C.3
Rio Deiros, D.4
Chen, D.C.5
Nazareth, L.6
-
45
-
-
70349956433
-
Finding the missing heritability of complex diseases
-
T.A. Manolio, F.S. Collins, N.J. Cox, D.B. Goldstein, L.A. Hindorff, and D.J. Hunter Finding the missing heritability of complex diseases Nature 461 7265 2009 747 753
-
(2009)
Nature
, vol.461
, Issue.7265
, pp. 747-753
-
-
Manolio, T.A.1
Collins, F.S.2
Cox, N.J.3
Goldstein, D.B.4
Hindorff, L.A.5
Hunter, D.J.6
-
46
-
-
0041488881
-
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set
-
DOI 10.1086/377137
-
T.C. Matise, R. Sachidanandam, A.G. Clark, L. Kruglyak, E. Wijsman, and J. Kakol A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set American Journal of Human Genetics 73 2 2003 271 284 (Pubitemid 36920991)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.2
, pp. 271-284
-
-
Matise, T.C.1
Sachidanandam, R.2
Clark, A.G.3
Kruglyak, L.4
Wijsman, E.5
Kakol, J.6
Buyske, S.7
Chui, B.8
Cohen, P.9
De Toma, C.10
Ehm, M.11
Glanowski, S.12
He, C.13
Heil, J.14
Markianos, K.15
McMullen, I.16
Pericak-Vance, M.A.17
Silbergleit, A.18
Stein, L.19
Wagner, M.20
Wilson, A.F.21
Winick, J.D.22
Winn-Deen, E.S.23
Yamashiro, C.T.24
Cann, H.M.25
Lai, E.26
Holden, A.L.27
more..
-
47
-
-
79953197983
-
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans
-
M. McCormack, A. Alfirevic, S. Bourgeois, J.J. Farrell, D. Kasperaviciute, and M. Carrington HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans The New England Journal of Medicine 364 12 2011 1134 1143
-
(2011)
The New England Journal of Medicine
, vol.364
, Issue.12
, pp. 1134-1143
-
-
McCormack, M.1
Alfirevic, A.2
Bourgeois, S.3
Farrell, J.J.4
Kasperaviciute, D.5
Carrington, M.6
-
48
-
-
77956628767
-
Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies
-
H.C. Mefford, H. Muhle, P. Ostertag, S. von Spiczak, K. Buysse, and C. Baker Genome-wide copy number variation in epilepsy: Novel susceptibility loci in idiopathic generalized and focal epilepsies PLoS Genetics 6 5 2010 e1000962
-
(2010)
PLoS Genetics
, vol.6
, Issue.5
, pp. 1000962
-
-
Mefford, H.C.1
Muhle, H.2
Ostertag, P.3
Von Spiczak, S.4
Buysse, K.5
Baker, C.6
-
49
-
-
79952575575
-
Epilepsy and the new cytogenetics
-
J.C. Mulley, and H.C. Mefford Epilepsy and the new cytogenetics Epilepsia 52 3 2011 423 432
-
(2011)
Epilepsia
, vol.52
, Issue.3
, pp. 423-432
-
-
Mulley, J.C.1
Mefford, H.C.2
-
50
-
-
84860712363
-
Patterns and rates of exonic de novo mutations in autism spectrum disorders
-
B.M. Neale, Y. Kou, L. Liu, A. Ma'ayan, K.E. Samocha, and A. Sabo Patterns and rates of exonic de novo mutations in autism spectrum disorders Nature 485 7397 2012 242 245
-
(2012)
Nature
, vol.485
, Issue.7397
, pp. 242-245
-
-
Neale, B.M.1
Kou, Y.2
Liu, L.3
Ma'Ayan, A.4
Samocha, K.E.5
Sabo, A.6
-
51
-
-
84863541347
-
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
-
M.R. Nelson, D. Wegmann, M.G. Ehm, D. Kessner, P. St Jean, and C. Verzilli An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people Science 337 2012 100 104
-
(2012)
Science
, vol.337
, pp. 100-104
-
-
Nelson, M.R.1
Wegmann, D.2
Ehm, M.G.3
Kessner, D.4
St Jean, P.5
Verzilli, C.6
-
52
-
-
55549115654
-
Genes mirror geography within Europe
-
J. Novembre, T. Johnson, K. Bryc, Z. Kutalik, A.R. Boyko, and A. Auton Genes mirror geography within Europe Nature 456 7218 2008 98 101
-
(2008)
Nature
, vol.456
, Issue.7218
, pp. 98-101
-
-
Novembre, J.1
Johnson, T.2
Bryc, K.3
Kutalik, Z.4
Boyko, A.R.5
Auton, A.6
-
53
-
-
0031897530
-
Are generalized and localization-related epilepsies genetically distinct?
-
DOI 10.1001/archneur.55.3.339
-
R. Ottman, J.H. Lee, W.A. Hauser, and N. Risch Are generalized and localization-related epilepsies genetically distinct? Archives of Neurology 55 3 1998 339 344 (Pubitemid 28146198)
-
(1998)
Archives of Neurology
, vol.55
, Issue.3
, pp. 339-344
-
-
Ottman, R.1
Lee, J.H.2
Hauser, W.A.3
Risch, N.4
-
54
-
-
79551600984
-
Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population
-
T. Ozeki, T. Mushiroda, A. Yowang, A. Takahashi, M. Kubo, and Y. Shirakata Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population Human Molecular Genetics 20 5 2011 1034 1041
-
(2011)
Human Molecular Genetics
, vol.20
, Issue.5
, pp. 1034-1041
-
-
Ozeki, T.1
Mushiroda, T.2
Yowang, A.3
Takahashi, A.4
Kubo, M.5
Shirakata, Y.6
-
55
-
-
67349176356
-
A 15q13.3 microdeletion segregating with autism
-
A.T. Pagnamenta, K. Wing, E.S. Akha, S.J. Knight, S. Bolte, and G. Schmotzer A 15q13.3 microdeletion segregating with autism European Journal of Human Genetics 17 5 2009 687 692
-
(2009)
European Journal of Human Genetics
, vol.17
, Issue.5
, pp. 687-692
-
-
Pagnamenta, A.T.1
Wing, K.2
Akha, E.S.3
Knight, S.J.4
Bolte, S.5
Schmotzer, G.6
-
57
-
-
78049416608
-
The characterization of twenty sequenced human genomes
-
K. Pelak, K.V. Shianna, D. Ge, J.M. Maia, M. Zhu, and J.P. Smith The characterization of twenty sequenced human genomes PLoS Genetics 6 9 2010
-
(2010)
PLoS Genetics
, vol.6
, Issue.9
-
-
Pelak, K.1
Shianna, K.V.2
Ge, D.3
Maia, J.M.4
Zhu, M.5
Smith, J.P.6
-
58
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
DOI 10.1038/ng1847, PII NG1847
-
A.L. Price, N.J. Patterson, R.M. Plenge, M.E. Weinblatt, N.A. Shadick, and D. Reich Principal components analysis corrects for stratification in genome-wide association studies Nature Genetics 38 8 2006 904 909 (Pubitemid 44141658)
-
(2006)
Nature Genetics
, vol.38
, Issue.8
, 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
-
59
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
S.M. Purcell, N.R. Wray, J.L. Stone, P.M. Visscher, M.C. O'Donovan, and P.F. Sullivan Common polygenic variation contributes to risk of schizophrenia and bipolar disorder Nature 460 7256 2009 748 752
-
(2009)
Nature
, vol.460
, Issue.7256
, pp. 748-752
-
-
Purcell, S.M.1
Wray, N.R.2
Stone, J.L.3
Visscher, P.M.4
O'Donovan, M.C.5
Sullivan, P.F.6
-
60
-
-
0035837267
-
Linkage disequilibrium in the human genome
-
DOI 10.1038/35075590
-
D.E. Reich, M. Cargill, S. Bolk, J. Ireland, P.C. Sabeti, and D.J. Richter Linkage disequilibrium in the human genome Nature 411 6834 2001 199 204 (Pubitemid 32455179)
-
(2001)
Nature
, vol.411
, Issue.6834
, pp. 199-204
-
-
Reich, D.E.1
Cargili, M.2
Boik, S.3
Ireland, J.4
Sabeti, P.C.5
Richter, D.J.6
Lavery, T.7
Kouyoumjian, R.8
Farhadian, S.F.9
Ward, R.10
Lander, E.S.11
-
61
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
N. Risch, and K. Merikangas The future of genetic studies of complex human diseases Science 273 5281 1996 1516 1517 (Pubitemid 26301653)
-
(1996)
Science
, vol.273
, Issue.5281
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
62
-
-
84860780495
-
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
-
S.J. Sanders, M.T. Murtha, A.R. Gupta, J.D. Murdoch, M.J. Raubeson, and A.J. Willsey De novo mutations revealed by whole-exome sequencing are strongly associated with autism Nature 485 7397 2012 237 241
-
(2012)
Nature
, vol.485
, Issue.7397
, 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
-
63
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
DOI 10.1038/ng.93, PII NG93
-
A.J. Sharp, H.C. Mefford, K. Li, C. Baker, C. Skinner, and R.E. Stevenson A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures Nature Genetics 40 3 2008 322 328 (Pubitemid 351311774)
-
(2008)
Nature Genetics
, vol.40
, Issue.3
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
Baker, C.4
Skinner, C.5
Stevenson, R.E.6
Schroer, R.J.7
Novara, F.8
De Gregori, M.9
Ciccone, R.10
Broomer, A.11
Casuga, I.12
Wang, Y.13
Xiao, C.14
Barbacioru, C.15
Gimelli, G.16
Bernardina, B.D.17
Torniero, C.18
Giorda, R.19
Regan, R.20
Murday, V.21
Mansour, S.22
Fichera, M.23
Castiglia, L.24
Failla, P.25
Ventura, M.26
Jiang, Z.27
Cooper, G.M.28
Knight, S.J.L.29
Romano, C.30
Zuffardi, O.31
Chen, C.32
Schwartz, C.E.33
Eichler, E.E.34
more..
-
65
-
-
77954158128
-
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
-
N.L. Sobreira, E.T. Cirulli, D. Avramopoulos, E. Wohler, G.L. Oswald, and E.L. Stevens Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene PLoS Genetics 6 6 2010 e1000991
-
(2010)
PLoS Genetics
, vol.6
, Issue.6
, pp. 1000991
-
-
Sobreira, N.L.1
Cirulli, E.T.2
Avramopoulos, D.3
Wohler, E.4
Oswald, G.L.5
Stevens, E.L.6
-
66
-
-
78049337953
-
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index
-
E.K. Speliotes, C.J. Willer, S.I. Berndt, K.L. Monda, G. Thorleifsson, and A.U. Jackson Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index Nature Genetics 42 11 2010 937 948
-
(2010)
Nature Genetics
, vol.42
, Issue.11
, pp. 937-948
-
-
Speliotes, E.K.1
Willer, C.J.2
Berndt, S.I.3
Monda, K.L.4
Thorleifsson, G.5
Jackson, A.U.6
-
67
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
H. Stefansson, D. Rujescu, S. Cichon, A. Ingason, S. Steinberg, and R. Fossdal Large recurrent microdeletions associated with schizophrenia Nature 455 7210 2008 232 236
-
(2008)
Nature
, vol.455
, Issue.7210
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
Ingason, A.4
Steinberg, S.5
Fossdal, R.6
-
68
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
O.K. Steinlein, J.C. Mulley, P. Propping, R.H. Wallace, H.A. Phillips, and G.R. Sutherland A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy Nature Genetics 11 2 1995 201 203
-
(1995)
Nature Genetics
, vol.11
, Issue.2
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
Wallace, R.H.4
Phillips, H.A.5
Sutherland, G.R.6
-
69
-
-
7944233055
-
Genetic association studies in epilepsy: "The truth is out there"
-
DOI 10.1111/j.0013-9580.2004.22904.x
-
N.C. Tan, J.C. Mulley, and S.F. Berkovic Genetic association studies in epilepsy: "The truth is out there" Epilepsia 45 11 2004 1429 1442 (Pubitemid 39470047)
-
(2004)
Epilepsia
, vol.45
, Issue.11
, pp. 1429-1442
-
-
Tan, N.C.K.1
Mulley, J.C.2
Berkovic, S.F.3
-
70
-
-
84863556835
-
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
-
J.A. Tennessen, A.W. Bigham, T.D. O'Connor, W. Fu, E.E. Kenny, and S. Gravel Evolution and functional impact of rare coding variation from deep sequencing of human exomes Science 337 2012 64 69
-
(2012)
Science
, vol.337
, pp. 64-69
-
-
Tennessen, J.A.1
Bigham, A.W.2
O'Connor, T.D.3
Fu, W.4
Kenny, E.E.5
Gravel, S.6
-
71
-
-
79251560652
-
Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases
-
E. Tu, R.D. Bagnall, J. Duflou, and C. Semsarian Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases Brain Pathology 21 2 2011 201 208
-
(2011)
Brain Pathology
, vol.21
, Issue.2
, pp. 201-208
-
-
Tu, E.1
Bagnall, R.D.2
Duflou, J.3
Semsarian, C.4
-
72
-
-
80054679391
-
Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases
-
E. Tu, L. Waterhouse, J. Duflou, R.D. Bagnall, and C. Semsarian Genetic analysis of hyperpolarization-activated cyclic nucleotide-gated cation channels in sudden unexpected death in epilepsy cases Brain Pathology 21 6 2011 692 698
-
(2011)
Brain Pathology
, vol.21
, Issue.6
, pp. 692-698
-
-
Tu, E.1
Waterhouse, L.2
Duflou, J.3
Bagnall, R.D.4
Semsarian, C.5
-
73
-
-
24144498733
-
Sacred disease secrets revealed: The genetics of human epilepsy
-
DOI 10.1093/hmg/ddi250
-
J. Turnbull, H. Lohi, J.A. Kearney, G.A. Rouleau, A.V. Delgado-Escueta, and M.H. Meisler Sacred disease secrets revealed: The genetics of human epilepsy Human Molecular Genetics 14 17 2005 2491 2500 (Pubitemid 41236062)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.17
, pp. 2491-2500
-
-
Turnbull, J.1
Lohi, H.2
Kearney, J.A.3
Rouleau, G.A.4
Delgado-Escueta, A.V.5
Meisler, M.H.6
Cossette, P.7
Minassian, B.A.8
-
74
-
-
78649484216
-
A de novo paradigm for mental retardation
-
L.E. Vissers, J. de Ligt, C. Gilissen, I. Janssen, M. Steehouwer, and P. de Vries A de novo paradigm for mental retardation Nature Genetics 42 12 2010 1109 1112
-
(2010)
Nature Genetics
, vol.42
, Issue.12
, pp. 1109-1112
-
-
Vissers, L.E.1
De Ligt, J.2
Gilissen, C.3
Janssen, I.4
Steehouwer, M.5
De Vries, P.6
-
76
-
-
0344738663
-
Genetic influences on myoclonic and absence seizures
-
M.R. Winawer, D. Rabinowitz, T.A. Pedley, W.A. Hauser, and R. Ottman Genetic influences on myoclonic and absence seizures Neurology 61 11 2003 1576 1581 (Pubitemid 37505582)
-
(2003)
Neurology
, vol.61
, Issue.11
, pp. 1576-1581
-
-
Winawer, M.R.1
Rabinowitz, D.2
Pedley, T.A.3
Hauser, W.A.4
Ottman, R.5
|