-
1
-
-
84945319215
-
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
-
Akawi, N., McRae, J., Ansari, M., Balasubramanian, M., Blyth, M., Brady, A. F., … Hurles, M. E. (2015). Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47, 1363–1369.
-
(2015)
Nature Genetics
, vol.47
, pp. 1363-1369
-
-
Akawi, N.1
McRae, J.2
Ansari, M.3
Balasubramanian, M.4
Blyth, M.5
Brady, A.F.6
Hurles, M.E.7
-
2
-
-
85029374004
-
-
American Psychiatric Association. (,). Diagnostic and statistical manual of mental disorders (4th ed.)
-
American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.).
-
(1994)
-
-
-
3
-
-
0034069495
-
Gene ontology: Tool for the unification of biology
-
Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Rubin, G. M., … Sherlock, G. (2000). Gene ontology: Tool for the unification of biology. Nature Genetics, 25, 25–29.
-
(2000)
Nature Genetics
, vol.25
, pp. 25-29
-
-
Ashburner, M.1
Ball, C.A.2
Blake, J.A.3
Botstein, D.4
Butler, H.5
Cherry, J.M.6
Rubin, G.M.7
Sherlock, G.8
-
4
-
-
84891779149
-
DECIPHER: Database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
-
Bragin, E., Chatzimichali, E. A., Wright, C. F., Hurles, M. E., Firth, H. V., Bevan, A. P., & Swaminathan, G. J. (2014). DECIPHER: Database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Research, 42, 993–1000.
-
(2014)
Nucleic Acids Research
, vol.42
, pp. 993-1000
-
-
Bragin, E.1
Chatzimichali, E.A.2
Wright, C.F.3
Hurles, M.E.4
Firth, H.V.5
Bevan, A.P.6
Swaminathan, G.J.7
-
6
-
-
80052497435
-
Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia
-
Carroll, L. S., Williams, H. J., Walters, J., Kirov, G., O'Donovan, M. C., & Owen, M. J. (2011). Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. American Journal of Medical Genetics Part B, Neuropsychiatric Genetics, 156B, 844–849.
-
(2011)
American Journal of Medical Genetics Part B, Neuropsychiatric Genetics
, vol.156B
, pp. 844-849
-
-
Carroll, L.S.1
Williams, H.J.2
Walters, J.3
Kirov, G.4
O'Donovan, M.C.5
Owen, M.J.6
-
7
-
-
84892814234
-
Chromatin modifiers and remodellers: Regulators of cellular differentiation
-
Chen, T., & Dent, S. Y. R. (2014). Chromatin modifiers and remodellers: Regulators of cellular differentiation. Nature Reviews Genetics, 15, 93–106.
-
(2014)
Nature Reviews Genetics
, vol.15
, pp. 93-106
-
-
Chen, T.1
Dent, S.Y.R.2
-
8
-
-
40849131338
-
XLMR genes: Update 2007
-
Chiurazzi, P., Schwartz, C. E., Gecz, J., & Neri, G. (2008). XLMR genes: Update 2007. European Journal of Human Genetics, 16, 422–434.
-
(2008)
European Journal of Human Genetics
, vol.16
, pp. 422-434
-
-
Chiurazzi, P.1
Schwartz, C.E.2
Gecz, J.3
Neri, G.4
-
9
-
-
84891753483
-
The reactome pathway knowledgebase
-
Croft, D., Mundo, A. F., Haw, R., Milacic, M., Weiser, J., Wu, G., … D'Eustachio, P. (2014). The reactome pathway knowledgebase. Nucleic Acids Research, 42, 472–477.
-
(2014)
Nucleic Acids Research
, vol.42
, pp. 472-477
-
-
Croft, D.1
Mundo, A.F.2
Haw, R.3
Milacic, M.4
Weiser, J.5
Wu, G.6
D'Eustachio, P.7
-
10
-
-
0036947252
-
Young cases of schizophrenia identified in a national inpatient register—Are the diagnoses valid
-
Dalman, C., Broms, J., Cullberg, J., & Allebeck, P. (2002). Young cases of schizophrenia identified in a national inpatient register—Are the diagnoses valid? Social Psychiatry and Psychiatric Epidemiology, 37, 527–531.
-
(2002)
Social Psychiatry and Psychiatric Epidemiology
, vol.37
, pp. 527-531
-
-
Dalman, C.1
Broms, J.2
Cullberg, J.3
Allebeck, P.4
-
11
-
-
77952888719
-
A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with schizophrenia
-
Datta, S. R., McQuillin, A., Rizig, M., Blaveri, E., Thirumalai, S., Kalsi, G., … Gurling, H. M. D. (2010). A threonine to isoleucine missense mutation in the pericentriolar material 1 gene is strongly associated with schizophrenia. Molecular Psychiatry, 15, 615–628.
-
(2010)
Molecular Psychiatry
, vol.15
, pp. 615-628
-
-
Datta, S.R.1
McQuillin, A.2
Rizig, M.3
Blaveri, E.4
Thirumalai, S.5
Kalsi, G.6
Gurling, H.M.D.7
-
12
-
-
84963595642
-
The statistical properties of gene-set analysis
-
de Leeuw, C. A., Neale, B. M., Heskes, T., & Posthuma, D. (2016). The statistical properties of gene-set analysis. Nature Reviews Genetics, 17, 353–364.
-
(2016)
Nature Reviews Genetics
, vol.17
, pp. 353-364
-
-
de Leeuw, C.A.1
Neale, B.M.2
Heskes, T.3
Posthuma, D.4
-
13
-
-
84868686559
-
Diagnostic exome sequencing in persons with severe intellectual disability
-
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., … Kroes, T. (2012). Diagnostic exome sequencing in persons with severe intellectual disability. New England Journal of Medicine, 367, 1921–1929.
-
(2012)
New England Journal of Medicine
, vol.367
, pp. 1921-1929
-
-
de Ligt, J.1
Willemsen, M.H.2
van Bon, B.W.M.3
Kleefstra, T.4
Yntema, H.G.5
Kroes, T.6
-
14
-
-
84912144889
-
Synaptic, transcriptional and chromatin genes disrupted in autism
-
De Rubeis, S., He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., … Buxbaum, J. D. (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature, 515, 209–215.
-
(2014)
Nature
, vol.515
, pp. 209-215
-
-
De Rubeis, S.1
He, X.2
Goldberg, A.P.3
Poultney, C.S.4
Samocha, K.5
Ercument Cicek, A.6
Buxbaum, J.D.7
-
15
-
-
0018119373
-
A diagnostic interview: The schedule for affective disorders and schizophrenia
-
Endicott, J., & Spitzer, R. L. (1978). A diagnostic interview: The schedule for affective disorders and schizophrenia. Archives of General Psychiatry, 35, 837–844.
-
(1978)
Archives of General Psychiatry
, vol.35
, pp. 837-844
-
-
Endicott, J.1
Spitzer, R.L.2
-
16
-
-
84941069145
-
The Mouse Genome Database (MGD): Facilitating mouse as a model for human biology and disease
-
Eppig, J. T., Blake, J. A., Bult, C. J., Kadin, J. A., Richardson, J. E., Anagnostopoulos, A., … Zhu, Y. (2015). The Mouse Genome Database (MGD): Facilitating mouse as a model for human biology and disease. Nucleic Acids Research, 43, D726–D736.
-
(2015)
Nucleic Acids Research
, vol.43
, pp. D726-D736
-
-
Eppig, J.T.1
Blake, J.A.2
Bult, C.J.3
Kadin, J.A.4
Richardson, J.E.5
Anagnostopoulos, A.6
Zhu, Y.7
-
17
-
-
84893919352
-
De novo mutations in schizophrenia implicate synaptic networks
-
Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., … O'Donovan, M. C. (2014). De novo mutations in schizophrenia implicate synaptic networks. Nature, 506, 179–184.
-
(2014)
Nature
, vol.506
, pp. 179-184
-
-
Fromer, M.1
Pocklington, A.J.2
Kavanagh, D.H.3
Williams, H.J.4
Dwyer, S.5
Gormley, P.6
O'Donovan, M.C.7
-
18
-
-
84946735654
-
Gene ontology consortium: Going forward
-
Gene Ontology Consortium
-
Gene Ontology Consortium. (2015). Gene ontology consortium: Going forward. Nucleic Acids Research, 43, D1049–D1056.
-
(2015)
Nucleic Acids Research
, vol.43
, pp. D1049-D1056
-
-
-
19
-
-
84989926166
-
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
-
Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., … McCarroll, S. A. (2016). Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. Nature Neuroscience, 19, 1433–1441.
-
(2016)
Nature Neuroscience
, vol.19
, pp. 1433-1441
-
-
Genovese, G.1
Fromer, M.2
Stahl, E.A.3
Ruderfer, D.M.4
Chambert, K.5
Landén, M.6
McCarroll, S.A.7
-
21
-
-
84867293769
-
ZCall: A rare variant caller for array-based genotyping: Genetics and population analysis
-
Goldstein, J. I., Crenshaw, A., Carey, J., Grant, G. B., Maguire, J., Fromer, M., … Neale, B. M. (2012). ZCall: A rare variant caller for array-based genotyping: Genetics and population analysis. Bioinformatics, 28, 2543–2545.
-
(2012)
Bioinformatics
, vol.28
, pp. 2543-2545
-
-
Goldstein, J.I.1
Crenshaw, A.2
Carey, J.3
Grant, G.B.4
Maguire, J.5
Fromer, M.6
Neale, B.M.7
-
23
-
-
84878220679
-
Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC
-
Hamshere, M. L., Walters, J. T. R., Smith, R., Richards, A. L., Green, E., Grozeva, D., … O'Donovan, M. C. (2013). Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Molecular Psychiatry, 18, 708–712.
-
(2013)
Molecular Psychiatry
, vol.18
, pp. 708-712
-
-
Hamshere, M.L.1
Walters, J.T.R.2
Smith, R.3
Richards, A.L.4
Green, E.5
Grozeva, D.6
O'Donovan, M.C.7
-
24
-
-
0033982936
-
Kyoto encyclopedia of genes and genomes
-
Kanehisa, M., & Goto, S. (2000). Kyoto encyclopedia of genes and genomes. Nucleic Acids Research, 28, 27–30.
-
(2000)
Nucleic Acids Research
, vol.28
, pp. 27-30
-
-
Kanehisa, M.1
Goto, S.2
-
25
-
-
84891760956
-
Data, information, knowledge and principle: Back to metabolism in KEGG
-
Kanehisa, M., Goto, S., Sato, Y., Kawashima, M., Furumichi, M., & Tanabe, M. (2014). Data, information, knowledge and principle: Back to metabolism in KEGG. Nucleic Acids Research, 42, 199–205.
-
(2014)
Nucleic Acids Research
, vol.42
, pp. 199-205
-
-
Kanehisa, M.1
Goto, S.2
Sato, Y.3
Kawashima, M.4
Furumichi, M.5
Tanabe, M.6
-
26
-
-
84862156464
-
HIstome—A relational knowledgebase of human histone proteins and histone modifying enzymes
-
Khare, S. P., Habib, F., Sharma, R., Gadewal, N., Gupta, S., & Galande, S. (2012). HIstome—A relational knowledgebase of human histone proteins and histone modifying enzymes. Nucleic Acids Research, 40, 337–342.
-
(2012)
Nucleic Acids Research
, vol.40
, pp. 337-342
-
-
Khare, S.P.1
Habib, F.2
Sharma, R.3
Gadewal, N.4
Gupta, S.5
Galande, S.6
-
27
-
-
84907130413
-
Validity of the diagnosis schizophrenia in a psychiatric inpatient register: A retrospective application of DSM-III criteria on ICD-8 diagnoses in Stockholm county
-
Kristjansson, E., Allebeck, P., & Börje, W. (1987). Validity of the diagnosis schizophrenia in a psychiatric inpatient register: A retrospective application of DSM-III criteria on ICD-8 diagnoses in Stockholm county. Nordisk Psykiatrisk Tidsskrift, 41, 229–234.
-
(1987)
Nordisk Psykiatrisk Tidsskrift
, vol.41
, pp. 229-234
-
-
Kristjansson, E.1
Allebeck, P.2
Börje, W.3
-
28
-
-
84864942403
-
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies
-
Lee, S., Emond, M. J., Bamshad, M. J., Barnes, K. C., Rieder, M. J., Nickerson, D. A., … Lin, X. (2012). Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. American Journal of Human Genetics, 91, 224–237.
-
(2012)
American Journal of Human Genetics
, vol.91
, pp. 224-237
-
-
Lee, S.1
Emond, M.J.2
Bamshad, M.J.3
Barnes, K.C.4
Rieder, M.J.5
Nickerson, D.A.6
Lin, X.7
-
29
-
-
84957823399
-
Analysis of protein-coding genetic variation in 60,706 humans 2
-
… Exome Aggregation Consortium
-
Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., … Exome Aggregation Consortium. (2015). Analysis of protein-coding genetic variation in 60,706 humans 2. Heart Lung, 1–26.
-
(2015)
Heart Lung
, pp. 1-26
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
Samocha, K.E.4
Banks, E.5
Fennell, T.6
-
30
-
-
50949095168
-
Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
-
Li, B., & Leal, S. S. M. (2008). Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data. American Journal of Human Genetics, 83, 311–321.
-
(2008)
American Journal of Human Genetics
, vol.83
, pp. 311-321
-
-
Li, B.1
Leal, S.S.M.2
-
31
-
-
58149464318
-
Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study
-
Lichtenstein, P., Yip, B. H., Björk, C., Pawitan, Y., Cannon, T. D., Sullivan, P. F., & Hultman, C. M. (2009). Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: A population-based study. The Lancet, 373, 234–239.
-
(2009)
The Lancet
, vol.373
, pp. 234-239
-
-
Lichtenstein, P.1
Yip, B.H.2
Björk, C.3
Pawitan, Y.4
Cannon, T.D.5
Sullivan, P.F.6
Hultman, C.M.7
-
32
-
-
61449168010
-
A groupwise association test for rare mutations using a weighted sum statistic
-
Madsen, B. E., & Browning, S. R. (2009). A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genetics, 5, e1000384.
-
(2009)
PLoS Genetics
, vol.5
-
-
Madsen, B.E.1
Browning, S.R.2
-
33
-
-
84892511644
-
Large-scale gene function analysis with the PANTHER classification system
-
Mi, H., Muruganujan, A., Casagrande, J. T., & Thomas, P. D. (2013). Large-scale gene function analysis with the PANTHER classification system. Nature Protocols, 8, 1551–1566.
-
(2013)
Nature Protocols
, vol.8
, pp. 1551-1566
-
-
Mi, H.1
Muruganujan, A.2
Casagrande, J.T.3
Thomas, P.D.4
-
34
-
-
84874969184
-
PANTHER in 2013: Modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees
-
Mi, H., Muruganujan, A., & Thomas, P. D. (2013). PANTHER in 2013: Modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees. Nucleic Acids Research, 41.
-
(2013)
Nucleic Acids Research
, vol.41
-
-
Mi, H.1
Muruganujan, A.2
Thomas, P.D.3
-
35
-
-
84871602426
-
Annotating cancer variants and anti-cancer therapeutics in reactome
-
Milacic, M., Haw, R., Rothfels, K., Wu, G., Croft, D., Hermjakob, H., D'Eustachio, P., & Stein, L. (2012). Annotating cancer variants and anti-cancer therapeutics in reactome. Cancers (Basel), 4, 1180–1211.
-
(2012)
Cancers (Basel)
, vol.4
, pp. 1180-1211
-
-
Milacic, M.1
Haw, R.2
Rothfels, K.3
Wu, G.4
Croft, D.5
Hermjakob, H.6
D'Eustachio, P.7
Stein, L.8
-
36
-
-
80053906761
-
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
-
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., … Ropers, H. H. (2011). Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature, 478, 57–63.
-
(2011)
Nature
, vol.478
, pp. 57-63
-
-
Najmabadi, H.1
Hu, H.2
Garshasbi, M.3
Zemojtel, T.4
Abedini, S.S.5
Chen, W.6
Ropers, H.H.7
-
37
-
-
84923077204
-
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
-
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, TN and PAS of the PG
-
Network and Pathway Analysis Subgroup of Psychiatric Genomics Consortium, TN and PAS of the PG. (2015). Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways. Nature Neuroscience, 18, 199–209.
-
(2015)
Nature Neuroscience
, vol.18
, pp. 199-209
-
-
-
38
-
-
85016435773
-
-
Holmans, P., Pocklington A. J., Escott-Price V., Ripke S., … Walters J. T. R. (,). Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection., bioRxiv, 068593
-
Pardiñas, A. F., Holmans, P., Pocklington A. J., Escott-Price V., Ripke S., … Walters J. T. R. (2016). Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. bioRxiv, 068593. https://doi.org/10.1101/068593
-
(2016)
-
-
Pardiñas, A.F.1
-
39
-
-
33846006923
-
Population structure and eigenanalysis
-
Patterson, N., Price, A. L., & Reich, D. (2006). Population structure and eigenanalysis. PLoS Genetics, 2, e190.
-
(2006)
PLoS Genetics
, vol.2
-
-
Patterson, N.1
Price, A.L.2
Reich, D.3
-
40
-
-
34547839782
-
Life-course influences on health in British adults: Effects of socio-economic position in childhood and adulthood
-
Power, C., Atherton, K., Strachan, D. P., Shepherd, P., Fuller, E., Davis, A., … Stansfeld, S. (2007). Life-course influences on health in British adults: Effects of socio-economic position in childhood and adulthood. International Journal of Epidemiology, 36, 532–539.
-
(2007)
International Journal of Epidemiology
, vol.36
, pp. 532-539
-
-
Power, C.1
Atherton, K.2
Strachan, D.P.3
Shepherd, P.4
Fuller, E.5
Davis, A.6
Stansfeld, S.7
-
41
-
-
32144461525
-
Cohort profile: 1958 british birth cohort (National child development study)
-
Power, C., & Elliott, J. (2006). Cohort profile: 1958 british birth cohort (National child development study). International Journal of Epidemiology, 35, 34–41.
-
(2006)
International Journal of Epidemiology
, vol.35
, pp. 34-41
-
-
Power, C.1
Elliott, J.2
-
42
-
-
33746512512
-
Principal components analysis corrects for stratification in genome-wide association studies
-
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006). Principal components analysis corrects for stratification in genome-wide association studies. Nature Genetics, 38, 904–909.
-
(2006)
Nature Genetics
, vol.38
, pp. 904-909
-
-
Price, A.L.1
Patterson, N.J.2
Plenge, R.M.3
Weinblatt, M.E.4
Shadick, N.A.5
Reich, D.6
-
43
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., … Sham, P. C. (2007). PLINK: A tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81, 559–575.
-
(2007)
American Journal of Human Genetics
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Sham, P.C.7
-
44
-
-
84893904007
-
A polygenic burden of rare disruptive mutations in schizophrenia
-
Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., … Sklar, P. (2014). A polygenic burden of rare disruptive mutations in schizophrenia. Nature, 506, 185–190.
-
(2014)
Nature
, vol.506
, pp. 185-190
-
-
Purcell, S.M.1
Moran, J.L.2
Fromer, M.3
Ruderfer, D.4
Solovieff, N.5
Roussos, P.6
Sklar, P.7
-
45
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
Purcell, S. M., Wray, N. R., Stone, J. L., Visscher, P. M., O'Donovan, M. C., Sullivan, P. F., & Sklar, P. (2009). Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature, 460, 748–752.
-
(2009)
Nature
, vol.460
, 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
Sklar, P.7
-
46
-
-
84868543309
-
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study
-
Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., … Strom, T. M. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. The Lancet, 380, 1674–1682.
-
(2012)
The Lancet
, vol.380
, pp. 1674-1682
-
-
Rauch, A.1
Wieczorek, D.2
Graf, E.3
Wieland, T.4
Endele, S.5
Schwarzmayr, T.6
Strom, T.M.7
-
47
-
-
81855178259
-
De novo rates and selection of schizophrenia-associated copy number variants
-
Rees, E., Moskvina, V., Owen, M. J., O'Donovan, M. C., & Kirov, G. (2011). De novo rates and selection of schizophrenia-associated copy number variants. Biological Psychiatry, 70, 1109–1114.
-
(2011)
Biological Psychiatry
, vol.70
, pp. 1109-1114
-
-
Rees, E.1
Moskvina, V.2
Owen, M.J.3
O'Donovan, M.C.4
Kirov, G.5
-
48
-
-
84962840928
-
Exome arrays capture polygenic rare variant contributions to schizophrenia
-
Richards, A. L., Leonenko, G., Walters, J. T., Kavanagh, D. H., Rees, E. G., Evans, A., … O'Donovan, M. C. (2016). Exome arrays capture polygenic rare variant contributions to schizophrenia. Human Molecular Genetics, 25, 1001–1007.
-
(2016)
Human Molecular Genetics
, vol.25
, pp. 1001-1007
-
-
Richards, A.L.1
Leonenko, G.2
Walters, J.T.3
Kavanagh, D.H.4
Rees, E.G.5
Evans, A.6
O'Donovan, M.C.7
-
49
-
-
84885020424
-
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
-
advance o
-
Ripke, S., O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., … Sullivan, P. F. (2013). Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nature Genetics, advance on, 45, 1150–1159.
-
(2013)
Nature Genetics
, vol.45
, pp. 1150-1159
-
-
Ripke, S.1
O'Dushlaine, C.2
Chambert, K.3
Moran, J.L.4
Kähler, A.K.5
Akterin, S.6
Sullivan, P.F.7
-
50
-
-
58149186477
-
PID: The pathway interaction database
-
Schaefer, C. F., Anthony, K., Krupa, S., Buchoff, J., Day, M., Hannay, T., & Buetow, K. H. (2009). PID: The pathway interaction database. Nucleic Acids Research, 37, 674–679.
-
(2009)
Nucleic Acids Research
, vol.37
, pp. 674-679
-
-
Schaefer, C.F.1
Anthony, K.2
Krupa, S.3
Buchoff, J.4
Day, M.5
Hannay, T.6
Buetow, K.H.7
-
51
-
-
84962233946
-
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
-
Singh, T., Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., … Barrett, J. C. (2016). Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. Nature Neuroscience, 19, 571–577.
-
(2016)
Nature Neuroscience
, vol.19
, pp. 571-577
-
-
Singh, T.1
Kurki, M.I.2
Curtis, D.3
Purcell, S.M.4
Crooks, L.5
McRae, J.6
Barrett, J.C.7
-
52
-
-
0344305525
-
Schizophrenia as a complex trait: Evidence from a meta-analysis of twin studies
-
Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003). Schizophrenia as a complex trait: Evidence from a meta-analysis of twin studies. Archives of General Psychiatry, 60, 1187–1192.
-
(2003)
Archives of General Psychiatry
, vol.60
, pp. 1187-1192
-
-
Sullivan, P.F.1
Kendler, K.S.2
Neale, M.C.3
-
53
-
-
84959575456
-
Weighting sequence variants based on their annotation increases power of whole-genome association studies
-
Sveinbjornsson, G., Albrechtsen, A., Zink, F., Gudjonsson, S. A., Oddson, A., … Stefansson, K. (2016). Weighting sequence variants based on their annotation increases power of whole-genome association studies. Nature Genetics, 48, 314–317.
-
(2016)
Nature Genetics
, vol.48
, pp. 314-317
-
-
Sveinbjornsson, G.1
Albrechtsen, A.2
Zink, F.3
Gudjonsson, S.A.4
Oddson, A.5
Stefansson, K.6
-
54
-
-
84903649108
-
Copy number variation in schizophrenia in Sweden
-
Szatkiewicz, J. P., O'Dushlaine, C., Chen, G., Chambert, K., Moran, J. L., Neale, B. M., … Sullivan, P. F. (2014). Copy number variation in schizophrenia in Sweden. Molecular Psychiatry, 19, 762–773.
-
(2014)
Molecular Psychiatry
, vol.19
, pp. 762-773
-
-
Szatkiewicz, J.P.1
O'Dushlaine, C.2
Chen, G.3
Chambert, K.4
Moran, J.L.5
Neale, B.M.6
Sullivan, P.F.7
-
55
-
-
84904804929
-
Biological insights from 108 schizophrenia-associated genetic loci
-
The Psychiatric Genomics Consortium
-
The Psychiatric Genomics Consortium. (2014). Biological insights from 108 schizophrenia-associated genetic loci. Nature, 511, 421–427.
-
(2014)
Nature
, vol.511
, pp. 421-427
-
-
-
56
-
-
27544446224
-
The International HapMap Project Web site
-
Thorisson, G. A., Smith, A. V., Krishnan, L., & Stein, L. D. (2005). The International HapMap Project Web site. Genome Research, 15, 1592–1593.
-
(2005)
Genome Research
, vol.15
, pp. 1592-1593
-
-
Thorisson, G.A.1
Smith, A.V.2
Krishnan, L.3
Stein, L.D.4
-
57
-
-
80755168331
-
Genetic and epigenetic networks in intellectual disabilities
-
van Bokhoven, H. (2011). Genetic and epigenetic networks in intellectual disabilities. Annual Review of Genetics, 45, 81–104.
-
(2011)
Annual Review of Genetics
, vol.45
, pp. 81-104
-
-
van Bokhoven, H.1
-
58
-
-
0025439099
-
SCAN. Schedules for clinical assessment in neuropsychiatry
-
Wing, J. K., Babor, T., Brugha, T., Burke, J., Cooper, J. E., Giel, R., Jablenski, A., Regier, D., & Sartorius, N. (1990). SCAN. Schedules for clinical assessment in neuropsychiatry. Archives of General Psychiatry, 47, 589–593.
-
(1990)
Archives of General Psychiatry
, vol.47
, pp. 589-593
-
-
Wing, J.K.1
Babor, T.2
Brugha, T.3
Burke, J.4
Cooper, J.E.5
Giel, R.6
Jablenski, A.7
Regier, D.8
Sartorius, N.9
-
59
-
-
84969213492
-
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
-
WTCC
-
WTCCC (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447, 661–678.
-
(2007)
Nature
, vol.447
, pp. 661-678
-
-
-
60
-
-
80051499915
-
Rare-variant association testing for sequencing data with the sequence kernel association test
-
Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011). Rare-variant association testing for sequencing data with the sequence kernel association test. American Journal of Human Genetics, 89, 82–93.
-
(2011)
American Journal of Human Genetics
, vol.89
, pp. 82-93
-
-
Wu, M.C.1
Lee, S.2
Cai, T.3
Li, Y.4
Boehnke, M.5
Lin, X.6
-
61
-
-
78650856517
-
GCTA: A tool for genome-wide complex trait analysis
-
Yang, J., Lee, S. H., Goddard, M. E., & Visscher, P. M. (2011). GCTA: A tool for genome-wide complex trait analysis. American Journal of Human Genetics, 88, 76–82.
-
(2011)
American Journal of Human Genetics
, vol.88
, pp. 76-82
-
-
Yang, J.1
Lee, S.H.2
Goddard, M.E.3
Visscher, P.M.4
-
62
-
-
84895801913
-
Advantages and pitfalls in the application of mixed-model association methods
-
Yang, J., Zaitlen, N. A., Goddard, M. E., Visscher, P. M., & Price, A. L. (2014). Advantages and pitfalls in the application of mixed-model association methods. Nature Genetics, 46, 100–106.
-
(2014)
Nature Genetics
, vol.46
, pp. 100-106
-
-
Yang, J.1
Zaitlen, N.A.2
Goddard, M.E.3
Visscher, P.M.4
Price, A.L.5
-
63
-
-
79954416946
-
Readers of histone modifications
-
Yun, M., Wu, J., Workman, J. L., & Li, B. (2011). Readers of histone modifications. Cell Research, 21, 564–578.
-
(2011)
Cell Research
, vol.21
, pp. 564-578
-
-
Yun, M.1
Wu, J.2
Workman, J.L.3
Li, B.4
-
64
-
-
84893378179
-
Searching for missing heritability: Designing rare variant association studies
-
Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., … Lander, E. S. (2014). Searching for missing heritability: Designing rare variant association studies. Proceedings of the National Academy of Sciences of the United States of America, 111, E455–E464.
-
(2014)
Proceedings of the National Academy of Sciences of the United States of America
, vol.111
, pp. E455-E464
-
-
Zuk, O.1
Schaffner, S.F.2
Samocha, K.3
Do, R.4
Hechter, E.5
Kathiresan, S.6
Lander, E.S.7
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