-
1
-
-
0024283651
-
Where next with psychiatric illness?
-
Where next with psychiatric illness? Nature. 1988;336(6195):95-96.
-
(1988)
Nature
, vol.336
, Issue.6195
, pp. 95-96
-
-
-
2
-
-
78149428430
-
Rethinking schizophrenia
-
Insel TR. Rethinking schizophrenia. Nature. 2010;468(7321):187-193.
-
(2010)
Nature
, vol.468
, Issue.7321
, pp. 187-193
-
-
Insel, T.R.1
-
3
-
-
77955379566
-
Copy number variations in schizophrenia: Critical review and new perspectives on concepts of genetics and disease
-
Bassett AS, Scherer SW, Brzustowicz LM. Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. Am J Psychiatry. 2010;167(8):899-914.
-
(2010)
Am J Psychiatry
, vol.167
, Issue.8
, pp. 899-914
-
-
Bassett, A.S.1
Scherer, S.W.2
Brzustowicz, L.M.3
-
5
-
-
83555164890
-
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: Lessons for diagnostic workfow and research
-
Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workfow and research. Cytogenet Genome Res. 2011;135(3-4):174-202.
-
(2011)
Cytogenet Genome Res
, vol.135
, Issue.3-4
, pp. 174-202
-
-
Hochstenbach, R.1
Buizer-Voskamp, J.E.2
Vorstman, J.A.3
Ophoff, R.A.4
-
6
-
-
79955419362
-
Schizophrenia genetics: Where next?
-
Kim Y, Zerwas S, Trace SE, Sullivan PF. Schizophrenia genetics: where next? Schizophr Bull. 2011;37(3):456-463.
-
(2011)
Schizophr Bull
, vol.37
, Issue.3
, pp. 456-463
-
-
Kim, Y.1
Zerwas, S.2
Trace, S.E.3
Sullivan, P.F.4
-
7
-
-
74949088599
-
The role of copy number variation in schizophrenia
-
Kirov G. The role of copy number variation in schizophrenia. Expert Rev Neurother. 2010;10(1):25-32.
-
(2010)
Expert Rev Neurother
, vol.10
, Issue.1
, pp. 25-32
-
-
Kirov, G.1
-
8
-
-
84855926937
-
The genetic architecture of schizophrenia: New mutations and emerging paradigms
-
Rodriguez-Murillo L, Gogos JA, Karayiorgou M. The genetic architecture of schizophrenia: new mutations and emerging paradigms. Annu Rev Med. 2012;63:63-80.
-
(2012)
Annu Rev Med
, vol.63
, pp. 63-80
-
-
Rodriguez-Murillo, L.1
Gogos, J.A.2
Karayiorgou, M.3
-
9
-
-
84864406547
-
Genetics of schizophrenia and psychotic disorders
-
Smoller J W, Rosen Sheidley B, Tsuang MT, editors, Arlington: American Psychiatric Publishing, Inc
-
Bassett AS, Chow EWC, Hodgkinson KA. Genetics of schizophrenia and psychotic disorders. In: Smoller J W, Rosen Sheidley B, Tsuang MT, editors. Psychiatric Genetics: Applications in Clinical Practice. Arlington: American Psychiatric Publishing, Inc; 2008:99-130.
-
(2008)
Psychiatric Genetics: Applications In Clinical Practice
, pp. 99-130
-
-
Bassett, A.S.1
Chow, E.W.C.2
Hodgkinson, K.A.3
-
10
-
-
77049096715
-
Advances in the genetics of schizophrenia: Will high-risk copy number variants be useful in clinical genetics or diagnostics?
-
Collier DA, Vassos E, Holden S, Patch C, McGuire P, Lewis C. Advances in the genetics of schizophrenia: will high-risk copy number variants be useful in clinical genetics or diagnostics? F1000 Med Rep. 2009;1:61.
-
(2009)
F1000 Med Rep
, vol.1
, pp. 61
-
-
Collier, D.A.1
Vassos, E.2
Holden, S.3
Patch, C.4
McGuire, P.5
Lewis, C.6
-
11
-
-
79955899296
-
Copy number variants: A new molecular frontier in clinical psychiatry
-
Moreno-De-Luca D, Cubells JF. Copy number variants: a new molecular frontier in clinical psychiatry. Curr Psychiatry Rep. 2011; 13(2):129-137.
-
(2011)
Curr Psychiatry Rep
, vol.13
, Issue.2
, pp. 129-137
-
-
Moreno-De-Luca, D.1
Cubells, J.F.2
-
13
-
-
51349125233
-
Phenotype matters: The case for careful characterization of relevant traits
-
Brzustowicz LM, Bassett AS. Phenotype matters: the case for careful characterization of relevant traits. Am J Psychiatry. 2008;165(9): 1096-1098.
-
(2008)
Am J Psychiatry
, vol.165
, Issue.9
, pp. 1096-1098
-
-
Brzustowicz, L.M.1
Bassett, A.S.2
-
15
-
-
0031939076
-
The genetic epidemiology of schizophrenia in a Finnish twin cohort. A population-based modeling study
-
Cannon TD, Kaprio J, Lonnqvist J, Huttunen M, Koskenvuo M. The genetic epidemiology of schizophrenia in a Finnish twin cohort. A population-based modeling study. Arch Gen Psychiatry. 1998; 55(1):67-74.
-
(1998)
Arch Gen Psychiatry
, vol.55
, Issue.1
, pp. 67-74
-
-
Cannon, T.D.1
Kaprio, J.2
Lonnqvist, J.3
Huttunen, M.4
Koskenvuo, M.5
-
16
-
-
0034060459
-
Twin studies of schizophrenia: From bow-and-arrow concordances to star wars Mx and functional genomics
-
Cardno AG, Gottesman II. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics. Am J Med Genet. 2000;97(1):12-17.
-
(2000)
Am J Med Genet
, vol.97
, Issue.1
, pp. 12-17
-
-
Cardno, A.G.1
Gottesman, I.I.2
-
17
-
-
0027216273
-
The genetics of schizophrenia: A current, genetic-epidemiologic perspective
-
Kendler KS, Diehl SR. The genetics of schizophrenia: a current, genetic-epidemiologic perspective. Schizophr Bull. 1993;19(2):261-285.
-
(1993)
Schizophr Bull
, vol.19
, Issue.2
, pp. 261-285
-
-
Kendler, K.S.1
Diehl, S.R.2
-
21
-
-
0021970467
-
Psychiatric illness in first-degree relatives of schizophrenic and surgical control patients. A family study using DSM-III criteria
-
Kendler KS, Gruenberg AM, Tsuang MT. Psychiatric illness in first-degree relatives of schizophrenic and surgical control patients. A family study using DSM-III criteria. Arch Gen Psychiatry. 1985;42(8): 770-779.
-
(1985)
Arch Gen Psychiatry
, vol.42
, Issue.8
, pp. 770-779
-
-
Kendler, K.S.1
Gruenberg, A.M.2
Tsuang, M.T.3
-
22
-
-
0020558840
-
The inheritance of schizophrenia spectrum disorders: A reanalysis of the Danish adoptee study data
-
Lowing PA, Mirsky A F, Pereira R. The inheritance of schizophrenia spectrum disorders: a reanalysis of the Danish adoptee study data. Am J Psychiatry. 1983;140(9):1167-1171.
-
(1983)
Am J Psychiatry
, vol.140
, Issue.9
, pp. 1167-1171
-
-
Lowing, P.A.1
Mirsky, A.F.2
Pereira, R.3
-
23
-
-
0030698638
-
At issue: Genes, experience, and chance in schizophrenia - positioning for the 21st century
-
Moldin SO, Gottesman II. At issue: genes, experience, and chance in schizophrenia - positioning for the 21st century. Schizophr Bull. 1997;23(4):547-561.
-
(1997)
Schizophr Bull
, vol.23
, Issue.4
, pp. 547-561
-
-
Moldin, S.O.1
Gottesman, I.I.2
-
24
-
-
0028065281
-
Adoption studies of schizophrenia
-
Tienari PJ, Wynne LC. Adoption studies of schizophrenia. Ann Med. 1994;26(4):233-237.
-
(1994)
Ann Med
, vol.26
, Issue.4
, pp. 233-237
-
-
Tienari, P.J.1
Wynne, L.C.2
-
25
-
-
0037337603
-
Childhood head injury and expression of schizophrenia in multiply affected families
-
AbdelMalik P, Husted J, Chow EW, Bassett AS. Childhood head injury and expression of schizophrenia in multiply affected families. Arch Gen Psychiatry. 2003;60(3):231-236.
-
(2003)
Arch Gen Psychiatry
, vol.60
, Issue.3
, pp. 231-236
-
-
Abdelmalik, P.1
Husted, J.2
Chow, E.W.3
Bassett, A.S.4
-
26
-
-
0034090104
-
Labour and delivery complications and schizophrenia. Case-control study using contemporaneous labour ward records
-
Byrne M, Browne R, Mulryan N, et al. Labour and delivery complications and schizophrenia. Case-control study using contemporaneous labour ward records. Br J Psychiatry. 2000;176:531-536.
-
(2000)
Br J Psychiatry
, vol.176
, pp. 531-536
-
-
Byrne, M.1
Browne, R.2
Mulryan, N.3
-
27
-
-
54249123142
-
Gene-environment interplay between cannabis and psychosis
-
Henquet C, Di Forti M, Morrison P, Kuepper R, Murray RM. Gene-environment interplay between cannabis and psychosis. Schizophr Bull. 2008;34(6):1111-1121.
-
(2008)
Schizophr Bull
, vol.34
, Issue.6
, pp. 1111-1121
-
-
Henquet, C.1
Di Forti, M.2
Morrison, P.3
Kuepper, R.4
Murray, R.M.5
-
28
-
-
0028275174
-
The strength of the genetic effect. Is there room for an environmental infuence in the aetiology of schizophrenia?
-
McGuffn P, Asherson P, Owen M, Farmer A. The strength of the genetic effect. Is there room for an environmental infuence in the aetiology of schizophrenia? Br J Psychiatry. 1994;164(5):593-599.
-
(1994)
Br J Psychiatry
, vol.164
, Issue.5
, pp. 593-599
-
-
McGuffn, P.1
Asherson, P.2
Owen, M.3
Farmer, A.4
-
29
-
-
81955164808
-
A systematic meta-review grading the evidence for non-genetic risk factors and putative antecedents of schizophrenia
-
Matheson SL, Shepherd AM, Laurens KR, Carr VJ. A systematic meta-review grading the evidence for non-genetic risk factors and putative antecedents of schizophrenia. Schizophr Res. 2011;133(1-3):133-142.
-
(2011)
Schizophr Res
, vol.133
, Issue.1-3
, pp. 133-142
-
-
Matheson, S.L.1
Shepherd, A.M.2
Laurens, K.R.3
Carr, V.J.4
-
30
-
-
34447619511
-
Cannabis use and risk of psychotic or affective mental health outcomes: A systematic review
-
Moore TH, Zammit S, Lingford-Hughes A, et al. Cannabis use and risk of psychotic or affective mental health outcomes: a systematic review. Lancet. 2007;370(9584):319-328.
-
(2007)
Lancet
, vol.370
, Issue.9584
, pp. 319-328
-
-
Moore, T.H.1
Zammit, S.2
Lingford-Hughes, A.3
-
31
-
-
0026932394
-
Implications of adoption studies on schizophrenia
-
Tienari P. Implications of adoption studies on schizophrenia. Br J Psychiatry Suppl. 1992;18:52-58.
-
(1992)
Br J Psychiatry Suppl
, vol.18
, pp. 52-58
-
-
Tienari, P.1
-
32
-
-
15444359994
-
Gene-environment interaction in vulnerability to schizophrenia: Fndings from the Finnish Adoptive Family Study of Schizophrenia
-
Wahlberg KE, Wynne LC, Oja H, et al. Gene-environment interaction in vulnerability to schizophrenia: fndings from the Finnish Adoptive Family Study of Schizophrenia. Am J Psychiatry. 1997;154(3):355-362.
-
(1997)
Am J Psychiatry
, vol.154
, Issue.3
, pp. 355-362
-
-
Wahlberg, K.E.1
Wynne, L.C.2
Oja, H.3
-
33
-
-
0024435379
-
Confrming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal discordant twins
-
Gottesman II, Bertelsen A. Confrming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal discordant twins. Arch Gen Psychiatry. 1989; 46(10):867-872.
-
(1989)
Arch Gen Psychiatry
, vol.46
, Issue.10
, pp. 867-872
-
-
Gottesman, I.I.1
Bertelsen, A.2
-
34
-
-
0024448590
-
Offspring of monozygotic twins discordant for schizophrenia
-
Kringlen E, Cramer G. Offspring of monozygotic twins discordant for schizophrenia. Arch Gen Psychiatry. 1989;46(10):873-877.
-
(1989)
Arch Gen Psychiatry
, vol.46
, Issue.10
, pp. 873-877
-
-
Kringlen, E.1
Cramer, G.2
-
35
-
-
0035183944
-
Genetic insights into the neurodevelopmental hypothesis of schizophrenia
-
Bassett AS, Chow EW, O'Neill S, Brzustowicz LM. Genetic insights into the neurodevelopmental hypothesis of schizophrenia. Schizophr Bull. 2001;27(3):417-430.
-
(2001)
Schizophr Bull
, vol.27
, Issue.3
, pp. 417-430
-
-
Bassett, A.S.1
Chow, E.W.2
O'Neill, S.3
Brzustowicz, L.M.4
-
36
-
-
0035073405
-
Genetic insights into schizophrenia
-
Bassett AS, Chow EW, Waterworth DM, Brzustowicz L. Genetic insights into schizophrenia. Can J Psychiatry. 2001;46(2):131-137.
-
(2001)
Can J Psychiatry
, vol.46
, Issue.2
, pp. 131-137
-
-
Bassett, A.S.1
Chow, E.W.2
Waterworth, D.M.3
Brzustowicz, L.4
-
37
-
-
77956650754
-
Candidate genes and their interactions with other genetic/environmental risk factors in the etiology of schizophrenia
-
Prasad KM, Talkowski ME, Chowdari K V, McClain L, Yolken RH, Nimgaonkar VL. Candidate genes and their interactions with other genetic/environmental risk factors in the etiology of schizophrenia. Brain Res Bull. 2010;83(3-4):86-92.
-
(2010)
Brain Res Bull
, vol.83
, Issue.3-4
, pp. 86-92
-
-
Prasad, K.M.1
Talkowski, M.E.2
Chowdari, K.V.3
McClain, L.4
Yolken, R.H.5
Nimgaonkar, V.L.6
-
38
-
-
0025019555
-
Linkage strategies for genetically complex traits. I. Multilocus models
-
Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet. 1990;46(2):222-228.
-
(1990)
Am J Hum Genet
, vol.46
, Issue.2
, pp. 222-228
-
-
Risch, N.1
-
39
-
-
54149088214
-
Epistasis - the essential role of gene interactions in the structure and evolution of genetic systems
-
Phillips PC. Epistasis - the essential role of gene interactions in the structure and evolution of genetic systems. Nat Rev Genet. 2008;9(11): 855-867.
-
(2008)
Nat Rev Genet
, vol.9
, Issue.11
, pp. 855-867
-
-
Phillips, P.C.1
-
40
-
-
0000169448
-
Schizophrenia as a gene mutation
-
Book JA. Schizophrenia as a gene mutation. Acta Genet Stat Med. 1953; 4(2-3):133-139.
-
(1953)
Acta Genet Stat Med
, vol.4
, Issue.2-3
, pp. 133-139
-
-
Book, J.A.1
-
41
-
-
84940139790
-
Mutation in man
-
Penrose LS. Mutation in man. Acta Genet Stat Med. 1956;6(2): 169-182.
-
(1956)
Acta Genet Stat Med
, vol.6
, Issue.2
, pp. 169-182
-
-
Penrose, L.S.1
-
42
-
-
33847759937
-
Schizophrenia: A common disease caused by multiple rare alleles
-
McClellan JM, Susser E, King MC. Schizophrenia: a common disease caused by multiple rare alleles. Br J Psychiatry. 2007;190:194-199.
-
(2007)
Br J Psychiatry
, vol.190
, pp. 194-199
-
-
McClellan, J.M.1
Susser, E.2
King, M.C.3
-
43
-
-
49649124127
-
Schizophrenia and 22q11.2 deletion syndrome
-
Bassett AS, Chow EW. Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep. 2008;10(2):148-157.
-
(2008)
Curr Psychiatry Rep
, vol.10
, Issue.2
, pp. 148-157
-
-
Bassett, A.S.1
Chow, E.W.2
-
44
-
-
84875568135
-
-
[webpage on the Internet]. Philadelphia, PA: Clinical Genetics Center - The Children's Hospital of Philadelphia; nd, Accessed January 4, 2012
-
McDonald-McGinn DM, Zackai EH. The history of the 22q11.2 deletion [webpage on the Internet]. Philadelphia, PA: Clinical Genetics Center - The Children's Hospital of Philadelphia; nd. Available from: http:// www.cbil.upenn.edu/VCFS/history.html. Accessed January 4, 2012.
-
The History of the 22q11.2 Deletion
-
-
McDonald-McGinn, D.M.1
Zackai, E.H.2
-
45
-
-
0026511481
-
Late-onset psychosis in the velo-cardio-facial syndrome
-
Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992;42(1):141-142.
-
(1992)
Am J Med Genet
, vol.42
, Issue.1
, pp. 141-142
-
-
Shprintzen, R.J.1
Goldberg, R.2
Golding-Kushner, K.J.3
Marion, R.W.4
-
46
-
-
79960444931
-
Practical guidelines for managing patients with 22q11.2 deletion syndrome
-
Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-339 e1.
-
(2011)
J Pediatr
, vol.159
, Issue.2
, pp. 332-339
-
-
Bassett, A.S.1
McDonald-McGinn, D.M.2
Devriendt, K.3
-
47
-
-
77952738956
-
22q11.2 microdeletions: Linking DNA structural variation to brain dysfunction and schizophrenia
-
Karayiorgou M, Simon TJ, Gogos JA. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 2010;11(6):402-416.
-
(2010)
Nat Rev Neurosci
, vol.11
, Issue.6
, pp. 402-416
-
-
Karayiorgou, M.1
Simon, T.J.2
Gogos, J.A.3
-
48
-
-
79958190497
-
Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome
-
Philip N, Bassett A. Cognitive, behavioural and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet. 2011;41(3):403-412.
-
(2011)
Behav Genet
, vol.41
, Issue.3
, pp. 403-412
-
-
Philip, N.1
Bassett, A.2
-
49
-
-
34547923174
-
Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2
-
Sandrin-Garcia P, Abramides D V, Martelli LR, Ramos ES, Richieri-Costa A, Passos GA. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2. Mol Cell Biochem. 2007;303(1-2):9-17.
-
(2007)
Mol Cell Biochem
, vol.303
, Issue.1-2
, pp. 9-17
-
-
Sandrin-Garcia, P.1
Abramides, D.V.2
Martelli, L.R.3
Ramos, E.S.4
Richieri-Costa, A.5
Passos, G.A.6
-
50
-
-
33846401106
-
Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome
-
Weksberg R, Stachon AC, Squire JA, et al. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2007;120(6):837-845.
-
(2007)
Hum Genet
, vol.120
, Issue.6
, pp. 837-845
-
-
Weksberg, R.1
Stachon, A.C.2
Squire, J.A.3
-
51
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
-
Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999;64(4):1076-1086.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.4
, pp. 1076-1086
-
-
Edelmann, L.1
Pandita, R.K.2
Morrow, B.E.3
-
52
-
-
0036468807
-
Genome architecture, rearrangements and genomic disorders
-
Stankiewicz P, Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet. 2002;18(2):74-82.
-
(2002)
Trends Genet
, vol.18
, Issue.2
, pp. 74-82
-
-
Stankiewicz, P.1
Lupski, J.R.2
-
53
-
-
57049132697
-
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
-
Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer S W. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet. 2008;17(24):4045-4053.
-
(2008)
Hum Mol Genet
, vol.17
, Issue.24
, pp. 4045-4053
-
-
Bassett, A.S.1
Marshall, C.R.2
Lionel, A.C.3
Chow, E.W.4
Scherer, S.W.5
-
54
-
-
0032871644
-
Phenotype of adults with the 22q11 deletion syndrome: A review
-
Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: A review. Am J Med Genet. 1999; 86(4):359-365.
-
(1999)
Am J Med Genet
, vol.86
, Issue.4
, pp. 359-365
-
-
Cohen, E.1
Chow, E.W.2
Weksberg, R.3
Bassett, A.S.4
-
55
-
-
0042632658
-
Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies
-
Digilio MC, Angioni A, De Santis M, et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet. 2003;63(4): 308-313.
-
(2003)
Clin Genet
, vol.63
, Issue.4
, pp. 308-313
-
-
Digilio, M.C.1
Angioni, A.2
de Santis, M.3
-
56
-
-
0035746391
-
Phenotype of the 22q11.2 deletion in individuals identifed through an affected relative: Cast a wide FISHing net!
-
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identifed through an affected relative: cast a wide FISHing net! Genet Med. 2001; 3(1):23-29.
-
(2001)
Genet Med
, vol.3
, Issue.1
, pp. 23-29
-
-
McDonald-McGinn, D.M.1
Tonnesen, M.K.2
Laufer-Cahana, A.3
-
57
-
-
84855992342
-
Sex differences in reproductive ftness contribute to preferential maternal transmission of 22q11.2 deletions
-
Costain G, Chow EW, Silversides CK, Bassett AS. Sex differences in reproductive ftness contribute to preferential maternal transmission of 22q11.2 deletions. J Med Genet. 2011;48(12):819-824.
-
(2011)
J Med Genet
, vol.48
, Issue.12
, pp. 819-824
-
-
Costain, G.1
Chow, E.W.2
Silversides, C.K.3
Bassett, A.S.4
-
58
-
-
67649973564
-
Genomic disorders ten years on
-
Lupski JR. Genomic disorders ten years on. Genome Med. 2009; 1(4):42.
-
(2009)
Genome Med
, vol.1
, Issue.4
, pp. 42
-
-
Lupski, J.R.1
-
59
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet. 2007;370(9596):1443-1452.
-
(2007)
Lancet
, vol.370
, Issue.9596
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
60
-
-
78651245300
-
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
McDonald-McGinn DM, Sullivan KE. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore). 2011;90(1):1-18.
-
(2011)
Medicine (Baltimore)
, vol.90
, Issue.1
, pp. 1-18
-
-
McDonald-McGinn, D.M.1
Sullivan, K.E.2
-
61
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam M P, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.
-
(2010)
Am J Hum Genet
, vol.86
, Issue.5
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
-
62
-
-
34247892309
-
Detection of single clone deletions using array CGH: Identifcation of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system
-
Tokuyasu TA, Cotter PD, Segraves R, et al. Detection of single clone deletions using array CGH: identifcation of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system. Am J Med Genet A. 2007;143A(9):925-932.
-
(2007)
Am J Med Genet A
, vol.143 A
, Issue.9
, pp. 925-932
-
-
Tokuyasu, T.A.1
Cotter, P.D.2
Segraves, R.3
-
63
-
-
27444447025
-
Clinical features of 78 adults with 22q11 Deletion Syndrome
-
Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A. 2005;138(4):307-313.
-
(2005)
Am J Med Genet A
, vol.138
, Issue.4
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.2
Husted, J.3
-
64
-
-
80052260252
-
A copy number variation morbidity map of developmental delay
-
Cooper GM, Coe B P, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838-846.
-
(2011)
Nat Genet
, vol.43
, Issue.9
, pp. 838-846
-
-
Cooper, G.M.1
Coe, B.P.2
Girirajan, S.3
-
65
-
-
77956328282
-
Clinically detectable copy number variations in a Canadian catchment population of schizophrenia
-
Bassett AS, Costain G, Fung WL, et al. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res. 2010;44(15):1005-1009.
-
(2010)
J Psychiatr Res
, vol.44
, Issue.15
, pp. 1005-1009
-
-
Bassett, A.S.1
Costain, G.2
Fung, W.L.3
-
66
-
-
77955401776
-
Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome
-
Fung WL, McEvilly R, Fong J, Silversides CK, Chow EWC, Bassett AS. Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. Am J Psychiatry. 2010;167(8):998.
-
(2010)
Am J Psychiatry
, vol.167
, Issue.8
, pp. 998
-
-
Fung, W.L.1
McEvilly, R.2
Fong, J.3
Silversides, C.K.4
Chow, E.W.C.5
Bassett, A.S.6
-
67
-
-
0032882849
-
High rates of schizophrenia in adults with velo-cardio-facial syndrome
-
Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999;56(10):940-945.
-
(1999)
Arch Gen Psychiatry
, vol.56
, Issue.10
, pp. 940-945
-
-
Murphy, K.C.1
Jones, L.A.2
Owen, M.J.3
-
68
-
-
4344619866
-
Cognitive defcits associated with schizophrenia in velo-cardio-facial syndrome
-
van Amelsvoort T, Henry J, Morris R, et al. Cognitive defcits associated with schizophrenia in velo-cardio-facial syndrome. Schizophr Res. 2004;70(2-3):223-232.
-
(2004)
Schizophr Res
, vol.70
, Issue.2-3
, pp. 223-232
-
-
van Amelsvoort, T.1
Henry, J.2
Morris, R.3
-
69
-
-
0346322914
-
The schizophrenia phenotype in 22q11 deletion syndrome
-
Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry. 2003;160(9):1580-1586.
-
(2003)
Am J Psychiatry
, vol.160
, Issue.9
, pp. 1580-1586
-
-
Bassett, A.S.1
Chow, E.W.2
Abdelmalik, P.3
Gheorghiu, M.4
Husted, J.5
Weksberg, R.6
-
70
-
-
33748895740
-
Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
-
Chow EW, Watson M, Young DA, Bassett AS. Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr Res. 2006;87(1-3):270-278.
-
(2006)
Schizophr Res
, vol.87
, Issue.1-3
, pp. 270-278
-
-
Chow, E.W.1
Watson, M.2
Young, D.A.3
Bassett, A.S.4
-
71
-
-
77951978706
-
Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome
-
Stoddard J, Niendam T, Hendren R, Carter C, Simon TJ. Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophr Res. 2010;118(1-3): 118-121.
-
(2010)
Schizophr Res
, vol.118
, Issue.1-3
, pp. 118-121
-
-
Stoddard, J.1
Niendam, T.2
Hendren, R.3
Carter, C.4
Simon, T.J.5
-
72
-
-
34247499520
-
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
-
Torres-Juan L, Rosell J, Sanchez-de-la-Torre M, Fibla J, Heine-Suner D. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet. 2007;8:14.
-
(2007)
BMC Med Genet
, vol.8
, pp. 14
-
-
Torres-Juan, L.1
Rosell, J.2
Sanchez-de-la-Torre, M.3
Fibla, J.4
Heine-Suner, D.5
-
73
-
-
0032874085
-
22q11 deletion syndrome: A genetic subtype of schizophrenia
-
Bassett AS, Chow EW. 22q11 deletion syndrome: a genetic subtype of schizophrenia. Biol Psychiatry. 1999;46(7):882-891.
-
(1999)
Biol Psychiatry
, vol.46
, Issue.7
, pp. 882-891
-
-
Bassett, A.S.1
Chow, E.W.2
-
74
-
-
33646755589
-
ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome
-
Antshel KM, Fremont W, Roizen NJ, et al. ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. J Am Acad Child Adolesc Psychiatry. 2006;45(5):596-603.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, Issue.5
, pp. 596-603
-
-
Antshel, K.M.1
Fremont, W.2
Roizen, N.J.3
-
75
-
-
66249135663
-
Premature death in adults with 22q11.2 deletion syndrome
-
Bassett AS, Chow EW, Husted J, et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet. 2009;46(5):324-330.
-
(2009)
J Med Genet
, vol.46
, Issue.5
, pp. 324-330
-
-
Bassett, A.S.1
Chow, E.W.2
Husted, J.3
-
76
-
-
78049295283
-
Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging
-
Booij J, van Amelsvoort T, Boot E. Co-occurrence of early-onset Parkinson disease and 22q11.2 deletion syndrome: Potential role for dopamine transporter imaging. Am J Med Genet A. 2010;152A(11): 2937-2938.
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.11
, pp. 2937-2938
-
-
Booij, J.1
van Amelsvoort, T.2
Boot, E.3
-
77
-
-
64549121558
-
Mathematical learning disabilities in children with 22q11.2 deletion syndrome: A review
-
De Smedt B, Swillen A, Verschaffel L, Ghesquiere P. Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review. Dev Disabil Res Rev. 2009;15(1):4-10.
-
(2009)
Dev Disabil Res Rev
, vol.15
, Issue.1
, pp. 4-10
-
-
de Smedt, B.1
Swillen, A.2
Verschaffel, L.3
Ghesquiere, P.4
-
78
-
-
71149112408
-
Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome
-
Green T, Gothelf D, Glaser B, et al. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry. 2009;48(11):1060-1068.
-
(2009)
J Am Acad Child Adolesc Psychiatry
, vol.48
, Issue.11
, pp. 1060-1068
-
-
Green, T.1
Gothelf, D.2
Glaser, B.3
-
79
-
-
51449090320
-
Living with a child at risk for psychotic illness: The experience of parents coping with 22q11 deletion syndrome: An exploratory study
-
Hercher L, Bruenner G. Living with a child at risk for psychotic illness: the experience of parents coping with 22q11 deletion syndrome: an exploratory study. Am J Med Genet A. 2008;146A(18):2355-2360.
-
(2008)
Am J Med Genet A
, vol.146 A
, Issue.18
, pp. 2355-2360
-
-
Hercher, L.1
Bruenner, G.2
-
80
-
-
70349775911
-
Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome
-
Jolin EM, Weller RA, Jessani NR, Zackai EH, McDonald-McGinn DM, Weller EB. Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome. J Affect Disord. 2009;119(1-3):177-180.
-
(2009)
J Affect Disord
, vol.119
, Issue.1-3
, pp. 177-180
-
-
Jolin, E.M.1
Weller, R.A.2
Jessani, N.R.3
Zackai, E.H.4
McDonald-McGinn, D.M.5
Weller, E.B.6
-
81
-
-
39749127846
-
Recognizing a common genetic syndrome: 22q11.2 deletion syndrome
-
Kapadia RK, Bassett AS. Recognizing a common genetic syndrome: 22q11.2 deletion syndrome. CMAJ. 2008;178(4):391-393.
-
(2008)
CMAJ
, vol.178
, Issue.4
, pp. 391-393
-
-
Kapadia, R.K.1
Bassett, A.S.2
-
82
-
-
0041832225
-
Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome
-
Lawrence S, McDonald-McGinn DM, Zackai E, Sullivan KE. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. J Pediatr. 2003;143(2):277-278.
-
(2003)
J Pediatr
, vol.143
, Issue.2
, pp. 277-278
-
-
Lawrence, S.1
McDonald-McGinn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
83
-
-
0033033492
-
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
-
McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999;10(1):11-24.
-
(1999)
Genet Couns
, vol.10
, Issue.1
, pp. 11-24
-
-
McDonald-McGinn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
-
85
-
-
17644421861
-
Presenting pheno-type in 100 children with the 22q11 deletion syndrome
-
Oskarsdottir S, Persson C, Eriksson BO, Fasth A. Presenting pheno-type in 100 children with the 22q11 deletion syndrome. Eur J Pediatr. 2005;164(3):146-153.
-
(2005)
Eur J Pediatr
, vol.164
, Issue.3
, pp. 146-153
-
-
Oskarsdottir, S.1
Persson, C.2
Eriksson, B.O.3
Fasth, A.4
-
86
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997;34(10):798-804.
-
(1997)
J Med Genet
, vol.34
, Issue.10
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
-
87
-
-
0032609084
-
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience
-
Vantrappen G, Devriendt K, Swillen A, et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience. Genet Couns. 1999;10(1):3-9.
-
(1999)
Genet Couns
, vol.10
, Issue.1
, pp. 3-9
-
-
Vantrappen, G.1
Devriendt, K.2
Swillen, A.3
-
88
-
-
61749100480
-
The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome
-
Zaleski C, Bassett AS, Tam K, Shugar AL, Chow EW, McPherson E. The co-occurrence of early onset Parkinson disease and 22q11.2 deletion syndrome. Am J Med Genet A. 2009;149A(3):525-528.
-
(2009)
Am J Med Genet A
, vol.149 A
, Issue.3
, pp. 525-528
-
-
Zaleski, C.1
Bassett, A.S.2
Tam, K.3
Shugar, A.L.4
Chow, E.W.5
McPherson, E.6
-
89
-
-
0141730274
-
Postmaturity in a genetic subtype of schizophrenia
-
Chow EW, Husted J, Weksberg R, Bassett AS. Postmaturity in a genetic subtype of schizophrenia. Acta Psychiatr Scand. 2003;108(4): 260-268.
-
(2003)
Acta Psychiatr Scand
, vol.108
, Issue.4
, pp. 260-268
-
-
Chow, E.W.1
Husted, J.2
Weksberg, R.3
Bassett, A.S.4
-
90
-
-
27644524899
-
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome
-
Gothelf D, Eliez S, Thompson T, et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci. 2005;8(11):1500-1502.
-
(2005)
Nat Neurosci
, vol.8
, Issue.11
, pp. 1500-1502
-
-
Gothelf, D.1
Eliez, S.2
Thompson, T.3
-
91
-
-
63449086286
-
Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome
-
Vorstman JA, Chow EW, Ophoff RA, et al. Association of the PIK4CA schizophrenia-susceptibility gene in adults with the 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2009;150B(3):430-433.
-
(2009)
Am J Med Genet B Neuropsychiatr Genet
, vol.150 B
, Issue.3
, pp. 430-433
-
-
Vorstman, J.A.1
Chow, E.W.2
Ophoff, R.A.3
-
92
-
-
80054695658
-
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients
-
Guo T, McDonald-McGinn D, Blonska A, et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients. Hum Mutat. 2011;32(11):1278-1289.
-
(2011)
Hum Mutat
, vol.32
, Issue.11
, pp. 1278-1289
-
-
Guo, T.1
McDonald-McGinn, D.2
Blonska, A.3
-
93
-
-
78951482163
-
Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome
-
Swaby JA, Silversides CK, Bekeschus SC, et al. Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. Am J Cardiol. 2011;107(3):466-471.
-
(2011)
Am J Cardiol
, vol.107
, Issue.3
, pp. 466-471
-
-
Swaby, J.A.1
Silversides, C.K.2
Bekeschus, S.C.3
-
94
-
-
34247636739
-
Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome
-
Bassett AS, Caluseriu O, Weksberg R, Young DA, Chow EW. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biol Psychiatry. 2007;61(10):1135-1140.
-
(2007)
Biol Psychiatry
, vol.61
, Issue.10
, pp. 1135-1140
-
-
Bassett, A.S.1
Caluseriu, O.2
Weksberg, R.3
Young, D.A.4
Chow, E.W.5
-
95
-
-
80051958061
-
Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia - relationship with COMT Val(1)/(1)Met polymorphism, gender and symptomatology
-
Boot E, Booij J, Abeling N, et al. Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia - relationship with COMT Val(1)/(1)Met polymorphism, gender and symptomatology. J Psychopharmacol. 2011;25(7):888-895.
-
(2011)
J Psychopharmacol
, vol.25
, Issue.7
, pp. 888-895
-
-
Boot, E.1
Booij, J.2
Abeling, N.3
-
96
-
-
77952676630
-
Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome
-
Ikeda M, Williams N, Williams HJ, et al. Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet. 2010;153B(4):980-982.
-
(2010)
Am J Med Genet B Neuropsychiatr Genet
, vol.153 B
, Issue.4
, pp. 980-982
-
-
Ikeda, M.1
Williams, N.2
Williams, H.J.3
-
97
-
-
77949656899
-
Cognitive and psychiatric predictors to psychosis in velocardio-facial syndrome: A 3-year follow-up study
-
Antshel KM, Shprintzen R, Fremont W, Higgins AM, Faraone S V, Kates WR. Cognitive and psychiatric predictors to psychosis in velocardio-facial syndrome: a 3-year follow-up study. J Am Acad Child Adolesc Psychiatry. 2010;49(4):333-344.
-
(2010)
J Am Acad Child Adolesc Psychiatry
, vol.49
, Issue.4
, pp. 333-344
-
-
Antshel, K.M.1
Shprintzen, R.2
Fremont, W.3
Higgins, A.M.4
Faraone, S.V.5
Kates, W.R.6
-
98
-
-
34247503348
-
Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome
-
Gothelf D, Feinstein C, Thompson T, et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry. 2007;164(4):663-669.
-
(2007)
Am J Psychiatry
, vol.164
, Issue.4
, pp. 663-669
-
-
Gothelf, D.1
Feinstein, C.2
Thompson, T.3
-
99
-
-
79951554896
-
Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome
-
Gothelf D, Hoeft F, Ueno T, et al. Developmental changes in multivariate neuroanatomical patterns that predict risk for psychosis in 22q11.2 deletion syndrome. J Psychiatr Res. 2011;45(3):322-331.
-
(2011)
J Psychiatr Res
, vol.45
, Issue.3
, pp. 322-331
-
-
Gothelf, D.1
Hoeft, F.2
Ueno, T.3
-
100
-
-
79955391338
-
Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric defcits in the superior temporal gyrus
-
Chow EW, Ho A, Wei C, Voormolen EH, Crawley AP, Bassett AS. Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric defcits in the superior temporal gyrus. Am J Psychiatry. 2011;168(5):522-529.
-
(2011)
Am J Psychiatry
, vol.168
, Issue.5
, pp. 522-529
-
-
Chow, E.W.1
Ho, A.2
Wei, C.3
Voormolen, E.H.4
Crawley, A.P.5
Bassett, A.S.6
-
101
-
-
40349091125
-
Predictors of long-term outcome in schizophrenia
-
Emsley R, Chiliza B, Schoeman R. Predictors of long-term outcome in schizophrenia. Curr Opin Psychiatry. 2008;21(2):173-177.
-
(2008)
Curr Opin Psychiatry
, vol.21
, Issue.2
, pp. 173-177
-
-
Emsley, R.1
Chiliza, B.2
Schoeman, R.3
-
102
-
-
80052975209
-
Diagnostic shifts during the decade following first admission for psychosis
-
Bromet EJ, Kotov R, Fochtmann LJ, et al. Diagnostic shifts during the decade following first admission for psychosis. Am J Psychiatry. 2011;168(11):1186-1194.
-
(2011)
Am J Psychiatry
, vol.168
, Issue.11
, pp. 1186-1194
-
-
Bromet, E.J.1
Kotov, R.2
Fochtmann, L.J.3
-
103
-
-
84864406999
-
Knowledge, attitudes and training of professionals on dual diagnosis of intellectual disability and psychiatric disorder
-
Werner S, Stawski M. Knowledge, attitudes and training of professionals on dual diagnosis of intellectual disability and psychiatric disorder. J Intellect Disabil Res. 2011.
-
(2011)
J Intellect Disabil Res
-
-
Werner, S.1
Stawski, M.2
-
104
-
-
0036258079
-
Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia
-
Badner JA, Gershon ES. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry. 2002;7(4):405-411.
-
(2002)
Mol Psychiatry
, vol.7
, Issue.4
, pp. 405-411
-
-
Badner, J.A.1
Gershon, E.S.2
-
105
-
-
0038003196
-
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia
-
Lewis CM, Levinson DF, Wise LH, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet. 2003;73(1):34-48.
-
(2003)
Am J Hum Genet
, vol.73
, Issue.1
, pp. 34-48
-
-
Lewis, C.M.1
Levinson, D.F.2
Wise, L.H.3
-
106
-
-
67651160485
-
Meta-analysis of 32 genome-wide linkage studies of schizophrenia
-
Ng MY, Levinson D F, Faraone S V, et al. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry. 2009;14(8):774-785.
-
(2009)
Mol Psychiatry
, vol.14
, Issue.8
, pp. 774-785
-
-
Ng, M.Y.1
Levinson, D.F.2
Faraone, S.V.3
-
107
-
-
0842329756
-
The molecular genetics of schizophrenia: New findings promise new insights
-
Owen MJ, Williams NM, O'Donovan MC. The molecular genetics of schizophrenia: new findings promise new insights. Mol Psychiatry. 2004;9(1):14-27.
-
(2004)
Mol Psychiatry
, vol.9
, Issue.1
, pp. 14-27
-
-
Owen, M.J.1
Williams, N.M.2
O'Donovan, M.C.3
-
109
-
-
17344364477
-
Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21
-
Blouin JL, Dombroski BA, Nath SK, et al. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet. 1998;20(1):70-73.
-
(1998)
Nat Genet
, vol.20
, Issue.1
, pp. 70-73
-
-
Blouin, J.L.1
Dombroski, B.A.2
Nath, S.K.3
-
110
-
-
0033206288
-
Linkage of familial schizophrenia to chromosome 13q32
-
Brzustowicz LM, Honer WG, Chow EW, et al. Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet. 1999;65(4):1096-1103.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.4
, pp. 1096-1103
-
-
Brzustowicz, L.M.1
Honer, W.G.2
Chow, E.W.3
-
111
-
-
0034724924
-
Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22
-
Brzustowicz LM, Hodgkinson KA, Chow EW, Honer WG, Bassett AS. Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22. Science. 2000;288(5466):678-682.
-
(2000)
Science
, vol.288
, Issue.5466
, pp. 678-682
-
-
Brzustowicz, L.M.1
Hodgkinson, K.A.2
Chow, E.W.3
Honer, W.G.4
Bassett, A.S.5
-
112
-
-
0035878561
-
Chromosome 1 loci in Finnish schizophrenia families
-
Ekelund J, Hovatta I, Parker A, et al. Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet. 2001;10(15):1611-1617.
-
(2001)
Hum Mol Genet
, vol.10
, Issue.15
, pp. 1611-1617
-
-
Ekelund, J.1
Hovatta, I.2
Parker, A.3
-
113
-
-
0035089756
-
Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23
-
Gurling HM, Kalsi G, Brynjolfson J, et al. Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. Am J Hum Genet. 2001;68(3):661-673.
-
(2001)
Am J Hum Genet
, vol.68
, Issue.3
, pp. 661-673
-
-
Gurling, H.M.1
Kalsi, G.2
Brynjolfson, J.3
-
114
-
-
67651177454
-
Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms
-
Holmans PA, Riley B, Pulver AE, et al. Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms. Mol Psychiatry. 2009;14(8):786-795.
-
(2009)
Mol Psychiatry
, vol.14
, Issue.8
, pp. 786-795
-
-
Holmans, P.A.1
Riley, B.2
Pulver, A.E.3
-
115
-
-
0031058747
-
Suggestive evidence for linkage of schizophrenia to markers on chromosome 13 in Caucasian but not Oriental populations
-
Lin M W, Sham P, Hwu HG, Collier D, Murray R, Powell JF. Suggestive evidence for linkage of schizophrenia to markers on chromosome 13 in Caucasian but not Oriental populations. Hum Genet. 1997;99(3):417-420.
-
(1997)
Hum Genet
, vol.99
, Issue.3
, pp. 417-420
-
-
Lin, M.W.1
Sham, P.2
Hwu, H.G.3
Collier, D.4
Murray, R.5
Powell, J.F.6
-
116
-
-
0031713339
-
A genome-wide search for schizophrenia susceptibility genes
-
Shaw SH, Kelly M, Smith AB, et al. A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet. 1998;81(5):364-376.
-
(1998)
Am J Med Genet
, vol.81
, Issue.5
, pp. 364-376
-
-
Shaw, S.H.1
Kelly, M.2
Smith, A.B.3
-
118
-
-
0030980118
-
Support for a possible schizophrenia vulnerability locus in region 5q22-31 in Irish families
-
Straub RE, MacLean CJ, O'Neill FA, Walsh D, Kendler KS. Support for a possible schizophrenia vulnerability locus in region 5q22-31 in Irish families. Mol Psychiatry. 1997;2(2):148-155.
-
(1997)
Mol Psychiatry
, vol.2
, Issue.2
, pp. 148-155
-
-
Straub, R.E.1
Maclean, C.J.2
O'Neill, F.A.3
Walsh, D.4
Kendler, K.S.5
-
119
-
-
33748591490
-
Thermometers: Something for statistical geneticists to think about
-
Vieland VJ. Thermometers: something for statistical geneticists to think about. Hum Hered. 2006;61(3):144-156.
-
(2006)
Hum Hered
, vol.61
, Issue.3
, pp. 144-156
-
-
Vieland, V.J.1
-
120
-
-
33749465267
-
Genome scan of Han Chinese schizophrenia families from Taiwan: Confrmation of linkage to 10q22.3
-
Faraone S V, Hwu HG, Liu CM, et al. Genome scan of Han Chinese schizophrenia families from Taiwan: confrmation of linkage to 10q22.3. Am J Psychiatry. 2006;163(10):1760-1766.
-
(2006)
Am J Psychiatry
, vol.163
, Issue.10
, pp. 1760-1766
-
-
Faraone, S.V.1
Hwu, H.G.2
Liu, C.M.3
-
121
-
-
33847274113
-
Mood-incongruent psychotic features in bipolar disorder: Familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33
-
Goes FS, Zandi P P, Miao K, et al. Mood-incongruent psychotic features in bipolar disorder: familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33. Am J Psychiatry. 2007;164(2):236-247.
-
(2007)
Am J Psychiatry
, vol.164
, Issue.2
, pp. 236-247
-
-
Goes, F.S.1
Zandi, P.P.2
Miao, K.3
-
122
-
-
31544444484
-
Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: Suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample
-
Suarez BK, Duan J, Sanders AR, et al. Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample. Am J Hum Genet. 2006;78(2):315-333.
-
(2006)
Am J Hum Genet
, vol.78
, Issue.2
, pp. 315-333
-
-
Suarez, B.K.1
Duan, J.2
Sanders, A.R.3
-
123
-
-
64949180420
-
Identification of a schizophrenia-associated functional noncoding variant in NOS1AP
-
Wratten NS, Memoli H, Huang Y, et al. Identification of a schizophrenia-associated functional noncoding variant in NOS1AP. Am J Psychiatry. 2009;166(4):434-441.
-
(2009)
Am J Psychiatry
, vol.166
, Issue.4
, pp. 434-441
-
-
Wratten, N.S.1
Memoli, H.2
Huang, Y.3
-
124
-
-
79952722217
-
After GWAS: Searching for genetic risk for schizophrenia and bipolar disorder
-
Gershon ES, Alliey-Rodriguez N, Liu C. After GWAS: searching for genetic risk for schizophrenia and bipolar disorder. Am J Psychiatry. 2011;168(3):253-256.
-
(2011)
Am J Psychiatry
, vol.168
, Issue.3
, pp. 253-256
-
-
Gershon, E.S.1
Alliey-Rodriguez, N.2
Liu, C.3
-
125
-
-
77955426959
-
Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort
-
Athanasiu L, Mattingsdal M, Kahler AK, et al. Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. J Psychiatr Res. 2010;44(12): 748-753.
-
(2010)
J Psychiatr Res
, vol.44
, Issue.12
, pp. 748-753
-
-
Athanasiu, L.1
Mattingsdal, M.2
Kahler, A.K.3
-
126
-
-
34249332776
-
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia
-
Lencz T, Morgan T V, Athanasiou M, et al. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry. 2007;12(6):572-580.
-
(2007)
Mol Psychiatry
, vol.12
, Issue.6
, pp. 572-580
-
-
Lencz, T.1
Morgan, T.V.2
Athanasiou, M.3
-
127
-
-
61449229353
-
A genome-wide investigation of SNPs and CNVs in schizophrenia
-
Need AC, Ge D, Weale ME, et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet. 2009;5(2):e1000373.
-
(2009)
PLoS Genet
, vol.5
, Issue.2
-
-
Need, A.C.1
Ge, D.2
Weale, M.E.3
-
128
-
-
79551709776
-
Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population
-
Schanze D, Ekici AB, Gawlik M, Pfuhlmann B, Reis A, Stober G. Evaluation of risk loci for schizophrenia derived from genome-wide association studies in a German population. Am J Med Genet B Neuropsychiatr Genet. 2011;156(2):198-203.
-
(2011)
Am J Med Genet B Neuropsychiatr Genet
, vol.156
, Issue.2
, pp. 198-203
-
-
Schanze, D.1
Ekici, A.B.2
Gawlik, M.3
Pfuhlmann, B.4
Reis, A.5
Stober, G.6
-
129
-
-
43949122950
-
Genomewide association for schizophrenia in the CATIE study: Results of stage 1
-
Sullivan P F, Lin D, Tzeng JY, et al. Genomewide association for schizophrenia in the CATIE study: results of stage 1. Mol Psychiatry. 2008;13(6):570-584.
-
(2008)
Mol Psychiatry
, vol.13
, Issue.6
, pp. 570-584
-
-
Sullivan, P.F.1
Lin, D.2
Tzeng, J.Y.3
-
130
-
-
50449100461
-
Identification of loci associated with schizophrenia by genome-wide association and follow-up
-
O'Donovan MC, Craddock N, Norton N, et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet. 2008;40(9):1053-1055.
-
(2008)
Nat Genet
, vol.40
, Issue.9
, pp. 1053-1055
-
-
O'Donovan, M.C.1
Craddock, N.2
Norton, N.3
-
131
-
-
68449086236
-
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
-
Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460(7256):748-752.
-
(2009)
Nature
, vol.460
, Issue.7256
, pp. 748-752
-
-
Purcell, S.M.1
Wray, N.R.2
Stone, J.L.3
-
132
-
-
84866386840
-
Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe
-
Rietschel M, Mattheisen M, Degenhardt F, et al. Association between genetic variation in a region on chromosome 11 and schizophrenia in large samples from Europe. Mol Psychiatry. 2011.
-
(2011)
Mol Psychiatry
-
-
Rietschel, M.1
Mattheisen, M.2
Degenhardt, F.3
-
133
-
-
80053384370
-
Genome-wide association study identifies five new schizophrenia loci
-
Ripke S, Sanders AR, Kendler KS, et al. Genome-wide association study identifies five new schizophrenia loci. Nat Genet. 2011;43(10):969-976.
-
(2011)
Nat Genet
, vol.43
, Issue.10
, pp. 969-976
-
-
Ripke, S.1
Sanders, A.R.2
Kendler, K.S.3
-
134
-
-
68449096727
-
Common variants on chromosome 6p22.1 are associated with schizophrenia
-
Shi J, Levinson D F, Duan J, et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature. 2009;460(7256): 753-757.
-
(2009)
Nature
, vol.460
, Issue.7256
, pp. 753-757
-
-
Shi, J.1
Levinson, D.F.2
Duan, J.3
-
135
-
-
68449090594
-
Common variants conferring risk of schizophrenia
-
Stefansson H, Ophoff RA, Steinberg S, et al. Common variants conferring risk of schizophrenia. Nature. 2009;460(7256):744-747.
-
(2009)
Nature
, vol.460
, Issue.7256
, pp. 744-747
-
-
Stefansson, H.1
Ophoff, R.A.2
Steinberg, S.3
-
136
-
-
79958173278
-
Genome-wide association study of schizophrenia in Japanese population
-
Yamada K, Iwayama Y, Hattori E, et al. Genome-wide association study of schizophrenia in Japanese population. PLoS One. 2011;6(6):e20468.
-
(2011)
PLoS One
, vol.6
, Issue.6
-
-
Yamada, K.1
Iwayama, Y.2
Hattori, E.3
-
137
-
-
82255175589
-
Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2
-
Yue WH, Wang HF, Sun LD, et al. Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2. Nat Genet. 2011;43(12):1228-1231.
-
(2011)
Nat Genet
, vol.43
, Issue.12
, pp. 1228-1231
-
-
Yue, W.H.1
Wang, H.F.2
Sun, L.D.3
-
138
-
-
0018350038
-
HLA antigens and schizophrenia
-
Crowe RR, Thompson JS, Flink R, Weinberger B. HLA antigens and schizophrenia. Arch Gen Psychiatry. 1979;36(2):231-233.
-
(1979)
Arch Gen Psychiatry
, vol.36
, Issue.2
, pp. 231-233
-
-
Crowe, R.R.1
Thompson, J.S.2
Flink, R.3
Weinberger, B.4
-
139
-
-
0016728611
-
Schizophrenia susceptibility and HL-A antigen
-
Eberhard G, Franzen G, Low B. Schizophrenia susceptibility and HL-A antigen. Neuropsychobiolog y. 1975;1(4):211-217.
-
(1975)
Neuropsychobiolog Y
, vol.1
, Issue.4
, pp. 211-217
-
-
Eberhard, G.1
Franzen, G.2
Low, B.3
-
140
-
-
82255175590
-
Common variants on 8p12 and 1q24.2 confer risk of schizophrenia
-
Shi Y, Li Z, Xu Q, et al. Common variants on 8p12 and 1q24.2 confer risk of schizophrenia. Nat Genet. 2011;43(12):1224-1227.
-
(2011)
Nat Genet
, vol.43
, Issue.12
, pp. 1224-1227
-
-
Shi, Y.1
Li, Z.2
Xu, Q.3
-
141
-
-
80053159517
-
Common variants at VRK2 and TCF4 conferring risk of schizophrenia
-
Steinberg S, de Jong S, Andreassen OA, et al. Common variants at VRK2 and TCF4 conferring risk of schizophrenia. Hum Mol Genet. 2011;20(20):4076-4081.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.20
, pp. 4076-4081
-
-
Steinberg, S.1
de Jong, S.2
Andreassen, O.A.3
-
142
-
-
78249259373
-
A genome-wide meta-analysis identi-fes novel loci associated with schizophrenia and bipolar disorder
-
Wang KS, Liu XF, Aragam N. A genome-wide meta-analysis identi-fes novel loci associated with schizophrenia and bipolar disorder. Schizophr Res. 2010;124(1-3):192-199.
-
(2010)
Schizophr Res
, vol.124
, Issue.1-3
, pp. 192-199
-
-
Wang, K.S.1
Liu, X.F.2
Aragam, N.3
-
143
-
-
79953034507
-
Fine mapping of ZNF804A and genome-wide signifcant evidence for its involvement in schizophrenia and bipolar disorder
-
Williams HJ, Norton N, Dwyer S, et al. Fine mapping of ZNF804A and genome-wide signifcant evidence for its involvement in schizophrenia and bipolar disorder. Mol Psychiatry. 2011;16(4):429-441.
-
(2011)
Mol Psychiatry
, vol.16
, Issue.4
, pp. 429-441
-
-
Williams, H.J.1
Norton, N.2
Dwyer, S.3
-
144
-
-
77953776675
-
Strong synaptic transmission impact by copy number variations in schizophrenia
-
Glessner JT, Reilly M P, Kim CE, et al. Strong synaptic transmission impact by copy number variations in schizophrenia. Proc Natl Acad Sci U S A. 2010;107(23):10584-10589.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, Issue.23
, pp. 10584-10589
-
-
Glessner, J.T.1
Reilly, M.P.2
Kim, C.E.3
-
145
-
-
80555145254
-
Pharmacogenetics of response to antipsychotics in patients with schizophrenia
-
Arranz MJ, Rivera M, Munro JC. Pharmacogenetics of response to antipsychotics in patients with schizophrenia. CNS Drugs. 2011; 25(11):933-969.
-
(2011)
CNS Drugs
, vol.25
, Issue.11
, pp. 933-969
-
-
Arranz, M.J.1
Rivera, M.2
Munro, J.C.3
-
146
-
-
79251568944
-
Pharmacogenomics of antipsychotics efficacy for schizophrenia
-
Cacabelos R, Hashimoto R, Takeda M. Pharmacogenomics of antipsychotics efficacy for schizophrenia. Psychiatry Clin Neurosci. 2011; 65(1):3-19.
-
(2011)
Psychiatry Clin Neurosci
, vol.65
, Issue.1
, pp. 3-19
-
-
Cacabelos, R.1
Hashimoto, R.2
Takeda, M.3
-
147
-
-
0035065968
-
Genetic counselling for schizophrenia in the era of molecular genetics
-
Hodgkinson KA, Murphy J, O'Neill S, Brzustowicz L, Bassett AS. Genetic counselling for schizophrenia in the era of molecular genetics. Can J Psychiatry. 2001;46(2):123-130.
-
(2001)
Can J Psychiatry
, vol.46
, Issue.2
, pp. 123-130
-
-
Hodgkinson, K.A.1
Murphy, J.2
O'Neill, S.3
Brzustowicz, L.4
Bassett, A.S.5
-
148
-
-
46249104490
-
Systematic meta-analyses and feld synopsis of genetic association studies in schizophrenia: The SzGene database
-
Allen NC, Bagade S, McQueen MB, et al. Systematic meta-analyses and feld synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet. 2008;40(7):827-834.
-
(2008)
Nat Genet
, vol.40
, Issue.7
, pp. 827-834
-
-
Allen, N.C.1
Bagade, S.2
McQueen, M.B.3
-
149
-
-
80052269336
-
Increased exonic de novo mutation rate in individuals with schizophrenia
-
Girard SL, Gauthier J, Noreau A, et al. Increased exonic de novo mutation rate in individuals with schizophrenia. Nat Genet. 2011;43(9): 860-863.
-
(2011)
Nat Genet
, vol.43
, Issue.9
, pp. 860-863
-
-
Girard, S.L.1
Gauthier, J.2
Noreau, A.3
-
150
-
-
80052273655
-
Exome sequencing supports a de novo mutational paradigm for schizophrenia
-
Xu B, Roos JL, Dexheimer P, et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia. Nat Genet. 2011;43(9): 864-868.
-
(2011)
Nat Genet
, vol.43
, Issue.9
, pp. 864-868
-
-
Xu, B.1
Roos, J.L.2
Dexheimer, P.3
-
151
-
-
54049144653
-
Copy-number variations associated with neuropsychiatric conditions
-
Cook EH Jr, Scherer SW. Copy-number variations associated with neuropsychiatric conditions. Nature. 2008;455(7215):919-923.
-
(2008)
Nature
, vol.455
, Issue.7215
, pp. 919-923
-
-
Cook Jr., E.H.1
Scherer, S.W.2
-
152
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet. 2004;36(9):949-951.
-
(2004)
Nat Genet
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
-
153
-
-
77952690350
-
The clinical context of copy number variation in the human genome
-
Lee C, Scherer S W. The clinical context of copy number variation in the human genome. Expert Rev Mol Med. 2010;12:e8.
-
(2010)
Expert Rev Mol Med
, vol.e8
, pp. 12
-
-
Lee, C.1
Scherer, S.W.2
-
154
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-454.
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
155
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science. 2004;305(5683):525-528.
-
(2004)
Science
, vol.305
, Issue.5683
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
-
156
-
-
0026783363
-
Chromosomal aberrations and schizophrenia. Autosomes
-
Bassett AS. Chromosomal aberrations and schizophrenia. Autosomes. Br J Psychiatry. 1992;161:323-334.
-
(1992)
Br J Psychiatry
, vol.161
, pp. 323-334
-
-
Bassett, A.S.1
-
157
-
-
79955145012
-
Maternally derived microdu-plications at 15q11-q13: Implication of imprinted genes in psychotic illness
-
Ingason A, Kirov G, Giegling I, et al. Maternally derived microdu-plications at 15q11-q13: implication of imprinted genes in psychotic illness. Am J Psychiatry. 2011;168(4):408-417.
-
(2011)
Am J Psychiatry
, vol.168
, Issue.4
, pp. 408-417
-
-
Ingason, A.1
Kirov, G.2
Giegling, I.3
-
158
-
-
77950587223
-
Rare copy number variants: A point of rarity in genetic risk for bipolar disorder and schizophrenia
-
Grozeva D, Kirov G, Ivanov D, et al. Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. Arch Gen Psychiatry. 2010;67(4):318-327.
-
(2010)
Arch Gen Psychiatry
, vol.67
, Issue.4
, pp. 318-327
-
-
Grozeva, D.1
Kirov, G.2
Ivanov, D.3
-
159
-
-
51649107017
-
Rare chromosomal deletions and duplications increase risk of schizophrenia
-
International Schizophrenia Consortium
-
International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008;455(7210):237-241.
-
(2008)
Nature
, vol.455
, Issue.7210
, pp. 237-241
-
-
-
160
-
-
64549147485
-
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
-
Kirov G, Grozeva D, Norton N, et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet. 2009;18(8):1497-1503.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.8
, pp. 1497-1503
-
-
Kirov, G.1
Grozeva, D.2
Norton, N.3
-
161
-
-
84856225986
-
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
-
Kirov G, Pocklington AJ, Holmans P, et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry. 2012;17(2):142-153.
-
(2012)
Mol Psychiatry
, vol.17
, Issue.2
, pp. 142-153
-
-
Kirov, G.1
Pocklington, A.J.2
Holmans, P.3
-
162
-
-
78149436172
-
New copy number variations in schizophrenia
-
Magri C, Sacchetti E, Traversa M, et al. New copy number variations in schizophrenia. PLoS One. 2010;5(10):e13422.
-
(2010)
PLoS One
, vol.5
, Issue.10
-
-
Magri, C.1
Sacchetti, E.2
Traversa, M.3
-
163
-
-
81855182144
-
Copy number variants for schizophrenia and related psychotic disorders in oceanic palau: Risk and transmission in extended pedigrees
-
Melhem N, Middleton F, McFadden K, et al. Copy number variants for schizophrenia and related psychotic disorders in oceanic palau: risk and transmission in extended pedigrees. Biol Psychiatry. 2011;70(12):1115-1121.
-
(2011)
Biol Psychiatry
, vol.70
, Issue.12
, pp. 1115-1121
-
-
Melhem, N.1
Middleton, F.2
McFadden, K.3
-
164
-
-
49949085933
-
Large recurrent microdeletions associated with schizophrenia
-
Stefansson H, Rujescu D, Cichon S, et al. Large recurrent microdeletions associated with schizophrenia. Nature. 2008;455(7210):232-236.
-
(2008)
Nature
, vol.455
, Issue.7210
, pp. 232-236
-
-
Stefansson, H.1
Rujescu, D.2
Cichon, S.3
-
165
-
-
78249281977
-
Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
-
Moreno-De-Luca D, Mulle JG, Kaminsky EB, et al. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet. 2010;87(5):618-630.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.5
, pp. 618-630
-
-
Moreno-De-Luca, D.1
Mulle, J.G.2
Kaminsky, E.B.3
-
166
-
-
79952710338
-
Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
-
Levinson DF, Duan J, Oh S, et al. Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry. 2011;168(3):302-316.
-
(2011)
Am J Psychiatry
, vol.168
, Issue.3
, pp. 302-316
-
-
Levinson, D.F.1
Duan, J.2
Oh, S.3
-
167
-
-
84947649513
-
Copy number variations of chromosome 16p13.1 region associated with schizophrenia
-
Ingason A, Rujescu D, Cichon S, et al. Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry. 2011;16(1):17-25.
-
(2011)
Mol Psychiatry
, vol.16
, Issue.1
, pp. 17-25
-
-
Ingason, A.1
Rujescu, D.2
Cichon, S.3
-
168
-
-
56749154242
-
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
-
Brunetti-Pierri N, Berg JS, Scaglia F, et al. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008;40(12):1466-1471.
-
(2008)
Nat Genet
, vol.40
, Issue.12
, pp. 1466-1471
-
-
Brunetti-Pierri, N.1
Berg, J.S.2
Scaglia, F.3
-
169
-
-
67349130116
-
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances
-
Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet. 2009;52(2-3):108-115.
-
(2009)
Eur J Med Genet
, vol.52
, Issue.2-3
, pp. 108-115
-
-
Doornbos, M.1
Sikkema-Raddatz, B.2
Ruijvenkamp, C.A.3
-
170
-
-
68149181705
-
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
-
Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet. 2009;41(8):931-935.
-
(2009)
Nat Genet
, vol.41
, Issue.8
, pp. 931-935
-
-
Greenway, S.C.1
Pereira, A.C.2
Lin, J.C.3
-
171
-
-
65949097704
-
Recurrent reciprocal deletions and duplications of 16p13.11: The deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
-
Hannes FD, Sharp AJ, Mefford HC, et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 2009;46(4):223-232.
-
(2009)
J Med Genet
, vol.46
, Issue.4
, pp. 223-232
-
-
Hannes, F.D.1
Sharp, A.J.2
Mefford, H.C.3
-
172
-
-
79961105991
-
Understanding the impact of 1q21.1 copy number variant
-
Harvard C, Strong E, Mercier E, et al. Understanding the impact of 1q21.1 copy number variant. Orphanet J Rare Dis. 2011;6:54.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 54
-
-
Harvard, C.1
Strong, E.2
Mercier, E.3
-
173
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
-
de Kovel CG, Trucks H, Helbig I, et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 2010;133(Pt 1):23-32.
-
(2010)
Brain
, vol.133
, Issue.Pt 1
, pp. 23-32
-
-
de Kovel, C.G.1
Trucks, H.2
Helbig, I.3
-
174
-
-
35348827304
-
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy
-
Mefford HC, Clauin S, Sharp AJ, et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007;81(5):1057-1069.
-
(2007)
Am J Hum Genet
, vol.81
, Issue.5
, pp. 1057-1069
-
-
Mefford, H.C.1
Clauin, S.2
Sharp, A.J.3
-
175
-
-
54049094444
-
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
-
Mefford HC, Sharp AJ, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008;359(16):1685-1699.
-
(2008)
N Engl J Med
, vol.359
, Issue.16
, pp. 1685-1699
-
-
Mefford, H.C.1
Sharp, A.J.2
Baker, C.3
-
176
-
-
69749104320
-
A method for rapid, targeted CNV genotyping identifes rare variants associated with neurocognitive disease
-
Mefford HC, Cooper GM, Zerr T, et al. A method for rapid, targeted CNV genotyping identifes rare variants associated with neurocognitive disease. Genome Res. 2009;19(9):1579-1585.
-
(2009)
Genome Res
, vol.19
, Issue.9
, pp. 1579-1585
-
-
Mefford, H.C.1
Cooper, G.M.2
Zerr, T.3
-
177
-
-
77149134317
-
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12
-
Nagamani SC, Erez A, Shen J, et al. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010;18(3):278-284.
-
(2010)
Eur J Hum Genet
, vol.18
, Issue.3
, pp. 278-284
-
-
Nagamani, S.C.1
Erez, A.2
Shen, J.3
-
178
-
-
34447278070
-
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/ or mental retardation
-
Ullmann R, Turner G, Kirchhoff M, et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/ or mental retardation. Hum Mutat. 2007;28(7):674-682.
-
(2007)
Hum Mutat
, vol.28
, Issue.7
, pp. 674-682
-
-
Ullmann, R.1
Turner, G.2
Kirchhoff, M.3
-
179
-
-
78049303903
-
Rare chromosomal deletions and duplications in attention-defcit hyperactivity disorder: A genome-wide analysis
-
Williams NM, Zaharieva I, Martin A, et al. Rare chromosomal deletions and duplications in attention-defcit hyperactivity disorder: a genome-wide analysis. Lancet. 2010;376(9750):1401-1408.
-
(2010)
Lancet
, vol.376
, Issue.9750
, pp. 1401-1408
-
-
Williams, N.M.1
Zaharieva, I.2
Martin, A.3
-
180
-
-
79955140031
-
Parental origin, DNA structure, and the schizophrenia spectrum
-
Bassett AS. Parental origin, DNA structure, and the schizophrenia spectrum. Am J Psychiatry. 2011;168(4):350-353.
-
(2011)
Am J Psychiatry
, vol.168
, Issue.4
, pp. 350-353
-
-
Bassett, A.S.1
-
181
-
-
11844264786
-
A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients
-
Horowitz A, Shifman S, Rivlin N, Pisante A, Darvasi A. A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients. Schizophr Res. 2005;73(2-3):263-267.
-
(2005)
Schizophr Res
, vol.73
, Issue.2-3
, pp. 263-267
-
-
Horowitz, A.1
Shifman, S.2
Rivlin, N.3
Pisante, A.4
Darvasi, A.5
-
182
-
-
42349088634
-
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
-
Walsh T, McClellan JM, McCarthy SE, et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008;320(5875):539-543.
-
(2008)
Science
, vol.320
, Issue.5875
, pp. 539-543
-
-
Walsh, T.1
McClellan, J.M.2
McCarthy, S.E.3
-
183
-
-
11144354655
-
22q11 deletion syndrome in childhood onset schizophrenia: An update
-
Sporn A, Addington A, Reiss AL, et al. 22q11 deletion syndrome in childhood onset schizophrenia: an update. Mol Psychiatry. 2004;9(3):225-226.
-
(2004)
Mol Psychiatry
, vol.9
, Issue.3
, pp. 225-226
-
-
Sporn, A.1
Addington, A.2
Reiss, A.L.3
-
184
-
-
18444385647
-
The neurode-velopmental model of schizophrenia: Update 2005
-
Rapoport JL, Addington AM, Frangou S, Psych MR. The neurode-velopmental model of schizophrenia: update 2005. Mol Psychiatry. 2005;10(5):434-449.
-
(2005)
Mol Psychiatry
, vol.10
, Issue.5
, pp. 434-449
-
-
Rapoport, J.L.1
Addington, A.M.2
Frangou, S.3
Psych, M.R.4
-
185
-
-
78650808443
-
Phenotypic variability and genetic susceptibility to genomic disorders
-
Girirajan S, Eichler EE. Phenotypic variability and genetic susceptibility to genomic disorders. Hum Mol Genet. 2010;19(R2):R176-R187.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.R2
-
-
Girirajan, S.1
Eichler, E.E.2
-
186
-
-
84864407023
-
Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome
-
Costain G, Chow EW, Ray PN, Bassett AS. Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome. J Intellect Disabil Res. 2011.
-
(2011)
J Intellect Disabil Res
-
-
Costain, G.1
Chow, E.W.2
Ray, P.N.3
Bassett, A.S.4
-
188
-
-
79953044828
-
Schizophrenia: Zooming in on a gene
-
Piggins HD. Schizophrenia: zooming in on a gene. Nature. 2011; 471(7339):455-456.
-
(2011)
Nature
, vol.471
, Issue.7339
, pp. 455-456
-
-
Piggins, H.D.1
-
189
-
-
79951472909
-
Charting a course for genomic medicine from base pairs to bedside
-
Green ED, Guyer MS. Charting a course for genomic medicine from base pairs to bedside. Nature. 2011;470(7333):204-213.
-
(2011)
Nature
, vol.470
, Issue.7333
, pp. 204-213
-
-
Green, E.D.1
Guyer, M.S.2
-
190
-
-
79959981749
-
Risk factors for autism: Translating genomic discoveries into diagnostics
-
Scherer S W, Dawson G. Risk factors for autism: translating genomic discoveries into diagnostics. Hum Genet. 2011;130(1):123-148.
-
(2011)
Hum Genet
, vol.130
, Issue.1
, pp. 123-148
-
-
Scherer, S.W.1
Dawson, G.2
-
192
-
-
77954915671
-
What is a meaningful result? Disclosing the results of genomic research in autism to research participants
-
Miller FA, Hayeems RZ, Bytautas J P. What is a meaningful result? Disclosing the results of genomic research in autism to research participants. Eur J Hum Genet. 2010;18(8):867-871.
-
(2010)
Eur J Hum Genet
, vol.18
, Issue.8
, pp. 867-871
-
-
Miller, F.A.1
Hayeems, R.Z.2
Bytautas, J.P.3
-
193
-
-
0030592327
-
Reproductive fitness in familial schizophrenia
-
Bassett AS, Bury A, Hodgkinson KA, Honer WG. Reproductive fitness in familial schizophrenia. Schizophr Res. 1996;21(3): 151-160.
-
(1996)
Schizophr Res
, vol.21
, Issue.3
, pp. 151-160
-
-
Bassett, A.S.1
Bury, A.2
Hodgkinson, K.A.3
Honer, W.G.4
-
194
-
-
78650797486
-
A systematic review and meta-analysis of the fertility of patients with schizophrenia and their unaffected relatives
-
Bundy H, Stahl D, MacCabe JH. A systematic review and meta-analysis of the fertility of patients with schizophrenia and their unaffected relatives. Acta Psychiatr Scand. 2011;123(2):98-106.
-
(2011)
Acta Psychiatr Scand
, vol.123
, Issue.2
, pp. 98-106
-
-
Bundy, H.1
Stahl, D.2
Maccabe, J.H.3
-
195
-
-
77956525597
-
Predictive and diagnostic genetic testing in psychiatry
-
Mitchell PB, Meiser B, Wilde A, et al. Predictive and diagnostic genetic testing in psychiatry. Clin Lab Med. 2010;30(4): 829-846.
-
(2010)
Clin Lab Med
, vol.30
, Issue.4
, pp. 829-846
-
-
Mitchell, P.B.1
Meiser, B.2
Wilde, A.3
-
197
-
-
78650511582
-
Genetic counselors' attitudes towards individuals with schizophrenia: Desire for social distance and endorsement of stereotypes
-
Feret H, Conway L, Austin JC. Genetic counselors' attitudes towards individuals with schizophrenia: desire for social distance and endorsement of stereotypes. Patient Educ Couns. 2011;82(1): 69-73.
-
(2011)
Patient Educ Couns
, vol.82
, Issue.1
, pp. 69-73
-
-
Feret, H.1
Conway, L.2
Austin, J.C.3
-
198
-
-
77951133127
-
Exploring genetic counselors' perceptions of and attitudes towards schizophrenia
-
Monaco LC, Conway L, Valverde K, Austin JC. Exploring genetic counselors' perceptions of and attitudes towards schizophrenia. Public Health Genomics. 2010;13(1):21-26.
-
(2010)
Public Health Genomics
, vol.13
, Issue.1
, pp. 21-26
-
-
Monaco, L.C.1
Conway, L.2
Valverde, K.3
Austin, J.C.4
-
199
-
-
77951526543
-
Genetic counseling for women with intellectual disabilities
-
In: LeRoy BS, Veach PM, Bartels DM, editors, Hoboken: Wiley-Blackwell
-
Finucane B. Genetic counseling for women with intellectual disabilities. In: LeRoy BS, Veach PM, Bartels DM, editors. Genetic Counseling Practice: Advanced Concepts and Skills. Hoboken: Wiley-Blackwell; 2010:470-507.
-
(2010)
Genetic Counseling Practice: Advanced Concepts and Skills
, pp. 470-507
-
-
Finucane, B.1
-
200
-
-
33750984559
-
Lost in transition: Challenges in the expanding field of adult genetics
-
Taylor MR, Edwards JG, Ku L. Lost in transition: challenges in the expanding field of adult genetics. Am J Med Genet C Semin Med Genet. 2006;142C(4):294-303.
-
(2006)
Am J Med Genet C Semin Med Genet
, vol.142 C
, Issue.4
, pp. 294-303
-
-
Taylor, M.R.1
Edwards, J.G.2
Ku, L.3
-
201
-
-
77951575953
-
Genetic counseling of adults with Williams syndrome: A frst study
-
Farwig K, Harmon AG, Fontana KM, Mervis CB, Morris CA. Genetic counseling of adults with Williams syndrome: a frst study. Am J Med Genet C Semin Med Genet. 2010;154C(2):307-315.
-
(2010)
Am J Med Genet C Semin Med Genet
, vol.154 C
, Issue.2
, pp. 307-315
-
-
Farwig, K.1
Harmon, A.G.2
Fontana, K.M.3
Mervis, C.B.4
Morris, C.A.5
-
202
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet. 2007; 39(7 Suppl):S48-S54.
-
(2007)
Nat Genet
, vol.39
, Issue.SUPPL 7
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
203
-
-
33747148076
-
Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: A practical review for healthcare professionals providing clinical psychiatric genetics consultations
-
Austin JC, Peay HL. Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations. Clin Genet. 2006;70(3):177-187.
-
(2006)
Clin Genet
, vol.70
, Issue.3
, pp. 177-187
-
-
Austin, J.C.1
Peay, H.L.2
-
205
-
-
0026741660
-
One hundred requests for predictive testing for Huntington's disease
-
Simpson SA, Besson J, Alexander D, Allan K, Johnston AW. One hundred requests for predictive testing for Huntington's disease. Clin Genet. 1992;41(6):326-330.
-
(1992)
Clin Genet
, vol.41
, Issue.6
, pp. 326-330
-
-
Simpson, S.A.1
Besson, J.2
Alexander, D.3
Allan, K.4
Johnston, A.W.5
-
206
-
-
0026697453
-
Presymptomatic testing for Huntington's disease in Wales 1987-1990
-
Tyler A, Morris M, Lazarou L, Meredith L, Myring J, Harper P. Presymptomatic testing for Huntington's disease in Wales 1987-1990. Br J Psychiatry. 1992;161:481-488.
-
(1992)
Br J Psychiatry
, vol.161
, pp. 481-488
-
-
Tyler, A.1
Morris, M.2
Lazarou, L.3
Meredith, L.4
Myring, J.5
Harper, P.6
-
207
-
-
70349756961
-
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
-
Xu B, Woodroffe A, Rodriguez-Murillo L, et al. Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. Proc Natl Acad Sci U S A. 2009;106(39): 16746-16751.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.39
, pp. 16746-16751
-
-
Xu, B.1
Woodroffe, A.2
Rodriguez-Murillo, L.3
-
208
-
-
80051586618
-
Modelling the effects of penetrance and family size on rates of sporadic and familial disease
-
Al-Chalabi A, Lewis CM. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered. 2011;71(4):281-288.
-
(2011)
Hum Hered
, vol.71
, Issue.4
, pp. 281-288
-
-
Al-Chalabi, A.1
Lewis, C.M.2
-
209
-
-
77955983296
-
Sporadic cases are the norm for complex disease
-
Yang J, Visscher PM, Wray NR. Sporadic cases are the norm for complex disease. Eur J Hum Genet. 2010;18(9):1039-1043.
-
(2010)
Eur J Hum Genet
, vol.18
, Issue.9
, pp. 1039-1043
-
-
Yang, J.1
Visscher, P.M.2
Wray, N.R.3
-
211
-
-
9244221094
-
The family history - more important than ever
-
Guttmacher AE, Collins FS, Carmona RH. The family history - more important than ever. N Engl J Med. 2004;351(22):2333-2336.
-
(2004)
N Engl J Med
, vol.351
, Issue.22
, pp. 2333-2336
-
-
Guttmacher, A.E.1
Collins, F.S.2
Carmona, R.H.3
-
212
-
-
0642336301
-
How does recent knowledge on the heredity of schizophrenia affect genetic counseling?
-
Papadimitriou GN, Dikeos DG. How does recent knowledge on the heredity of schizophrenia affect genetic counseling? Curr Psychiatry Rep. 2003;5(4):239-240.
-
(2003)
Curr Psychiatry Rep
, vol.5
, Issue.4
, pp. 239-240
-
-
Papadimitriou, G.N.1
Dikeos, D.G.2
-
213
-
-
0021930690
-
Genetic counselling for schizophrenia
-
Reveley A. Genetic counselling for schizophrenia. Br J Psychiatry. 1985;147:107-112.
-
(1985)
Br J Psychiatry
, vol.147
, pp. 107-112
-
-
Reveley, A.1
-
214
-
-
0018164835
-
Genetic counseling for psychiatric patients and their families
-
Tsuang MT. Genetic counseling for psychiatric patients and their families. Am J Psychiatry. 1978;135(12):1465-1475.
-
(1978)
Am J Psychiatry
, vol.135
, Issue.12
, pp. 1465-1475
-
-
Tsuang, M.T.1
-
215
-
-
75149138800
-
Genetic counseling for schizophrenia: A review of referrals to a provincial medical genetics program from 1968 to 2007
-
Hunter MJ, Hippman C, Honer WG, Austin JC. Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968 to 2007. Am J Med Genet A. 2010;152A(1): 147-152.
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.1
, pp. 147-152
-
-
Hunter, M.J.1
Hippman, C.2
Honer, W.G.3
Austin, J.C.4
-
216
-
-
36749022156
-
The importance of genetic counseling for individuals with schizophrenia and their relatives: Potential clients' opinions and experiences
-
Lyus VL. The importance of genetic counseling for individuals with schizophrenia and their relatives: potential clients' opinions and experiences. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(8):1014-1021.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, Issue.8
, pp. 1014-1021
-
-
Lyus, V.L.1
-
217
-
-
65249124115
-
Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: A pilot study
-
Austin JC, Honer WG. Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: a pilot study. Early Interv Psychiatry. 2008;2(2):80-89.
-
(2008)
Early Interv Psychiatry
, vol.2
, Issue.2
, pp. 80-89
-
-
Austin, J.C.1
Honer, W.G.2
-
219
-
-
40849109768
-
Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
-
Bruder CE, Piotrowski A, Gijsbers AA, et al. Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet. 2008;82(3):763-771.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.3
, pp. 763-771
-
-
Bruder, C.E.1
Piotrowski, A.2
Gijsbers, A.A.3
-
220
-
-
81855183787
-
Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder
-
Dempster EL, Pidsley R, Schalkwyk LC, et al. Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder. Hum Mol Genet. 2011;20(24):4786-4796.
-
(2011)
Hum Mol Genet
, vol.20
, Issue.24
, pp. 4786-4796
-
-
Dempster, E.L.1
Pidsley, R.2
Schalkwyk, L.C.3
-
221
-
-
21844439212
-
Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders
-
Kato T, Iwamoto K, Kakiuchi C, Kuratomi G, Okazaki Y. Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders. Mol Psychiatry. 2005;10(7):622-630.
-
(2005)
Mol Psychiatry
, vol.10
, Issue.7
, pp. 622-630
-
-
Kato, T.1
Iwamoto, K.2
Kakiuchi, C.3
Kuratomi, G.4
Okazaki, Y.5
-
222
-
-
79952289176
-
Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: Studies on two families with MZD twins for schizophrenia
-
Maiti S, Kumar KH, Castellani CA, O'Reilly R, Singh SM. Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One. 2011;6(3):e17125.
-
(2011)
PLoS One
, vol.6
, Issue.3
-
-
Maiti, S.1
Kumar, K.H.2
Castellani, C.A.3
O'Reilly, R.4
Singh, S.M.5
-
223
-
-
77955051972
-
Childhood trauma and genetic factors in familial schizophrenia associated with the NOS1AP gene
-
Husted JA, Ahmed R, Chow EW, Brzustowicz LM, Bassett AS. Childhood trauma and genetic factors in familial schizophrenia associated with the NOS1AP gene. Schizophr Res. 2010;121(1-3):187-192.
-
(2010)
Schizophr Res
, vol.121
, Issue.1-3
, pp. 187-192
-
-
Husted, J.A.1
Ahmed, R.2
Chow, E.W.3
Brzustowicz, L.M.4
Bassett, A.S.5
-
224
-
-
78149462958
-
The environment and schizophrenia
-
van Os J, Kenis G, Rutten B P. The environment and schizophrenia. Nature. 2010;468(7321):203-212.
-
(2010)
Nature
, vol.468
, Issue.7321
, pp. 203-212
-
-
van Os, J.1
Kenis, G.2
Rutten, B.P.3
-
225
-
-
0023598608
-
Genetics, chance, and morphogenesis
-
Kurnit DM, Layton WM, Matthysse S. Genetics, chance, and morphogenesis. Am J Hum Genet. 1987;41(6):979-995.
-
(1987)
Am J Hum Genet
, vol.41
, Issue.6
, pp. 979-995
-
-
Kurnit, D.M.1
Layton, W.M.2
Matthysse, S.3
-
227
-
-
33748496249
-
Recurrence risks for schizophrenia in a Swedish national cohort
-
Lichtenstein P, Bjork C, Hultman CM, Scolnick E, Sklar P, Sullivan P F. Recurrence risks for schizophrenia in a Swedish national cohort. Psychol Med. 2006;36(10):1417-1425.
-
(2006)
Psychol Med
, vol.36
, Issue.10
, pp. 1417-1425
-
-
Lichtenstein, P.1
Bjork, C.2
Hultman, C.M.3
Scolnick, E.4
Sklar, P.5
Sullivan, P.F.6
-
228
-
-
46149109230
-
Genotype-specific recurrence risks as indicators of the genetic architecture of complex diseases
-
Slatkin M. Genotype-specific recurrence risks as indicators of the genetic architecture of complex diseases. Am J Hum Genet. 2008;83(1):120-126.
-
(2008)
Am J Hum Genet
, vol.83
, Issue.1
, pp. 120-126
-
-
Slatkin, M.1
-
229
-
-
34948877698
-
Prediction of individual genetic risk to disease from genome-wide association studies
-
Wray NR, Goddard ME, Visscher PM. Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res. 2007;17(10):1520-1528.
-
(2007)
Genome Res
, vol.17
, Issue.10
, pp. 1520-1528
-
-
Wray, N.R.1
Goddard, M.E.2
Visscher, P.M.3
-
230
-
-
70349326221
-
Epigenetic inheritance and the missing heritability problem
-
Slatkin M. Epigenetic inheritance and the missing heritability problem. Genetics. 2009;182(3):845-850.
-
(2009)
Genetics
, vol.182
, Issue.3
, pp. 845-850
-
-
Slatkin, M.1
-
231
-
-
79951481957
-
Initial impact of the sequencing of the human genome
-
Lander ES. Initial impact of the sequencing of the human genome. Nature. 2011;470(7333):187-197.
-
(2011)
Nature
, vol.470
, Issue.7333
, pp. 187-197
-
-
Lander, E.S.1
-
232
-
-
79952183410
-
The advent of personal genome sequencing
-
Drmanac R. The advent of personal genome sequencing. Genet Med. 2011;13(3):188-190.
-
(2011)
Genet Med
, vol.13
, Issue.3
, pp. 188-190
-
-
Drmanac, R.1
-
233
-
-
42949179067
-
Guidelines for early identifcation, screening, and clinical management of children with autism spectrum disorders
-
Greenspan SI, Brazelton TB, Cordero J, et al. Guidelines for early identifcation, screening, and clinical management of children with autism spectrum disorders. Pediatrics. 2008;121(4):828-830.
-
(2008)
Pediatrics
, vol.121
, Issue.4
, pp. 828-830
-
-
Greenspan, S.I.1
Brazelton, T.B.2
Cordero, J.3
-
234
-
-
79955030459
-
Autism spectrum disorders - a genetics review
-
Miles JH. Autism spectrum disorders - a genetics review. Genet Med. 2011;13(4):278-294.
-
(2011)
Genet Med
, vol.13
, Issue.4
, pp. 278-294
-
-
Miles, J.H.1
-
235
-
-
0035014077
-
Genetic and environmental factors in epilepsy: A population-based study of 11900 Danish twin pairs
-
Kjeldsen MJ, Kyvik KO, Christensen K, Friis ML. Genetic and environmental factors in epilepsy: a population-based study of 11900 Danish twin pairs. Epilepsy Res. 2001;44(2-3):167-178.
-
(2001)
Epilepsy Res
, vol.44
, Issue.2-3
, pp. 167-178
-
-
Kjeldsen, M.J.1
Kyvik, K.O.2
Christensen, K.3
Friis, M.L.4
-
236
-
-
84864387461
-
Genetic variations and associated pathophysi-ology in the management of epilepsy
-
Mulley JC, Dibbens LM. Genetic variations and associated pathophysi-ology in the management of epilepsy. The Application of Clinical Genetics. 2011;4:113-125.
-
(2011)
The Application of Clinical Genetics
, vol.4
, pp. 113-125
-
-
Mulley, J.C.1
Dibbens, L.M.2
-
237
-
-
77956263092
-
Genetic evaluation and counseling for epilepsy
-
Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6(8):445-453.
-
(2010)
Nat Rev Neurol
, vol.6
, Issue.8
, pp. 445-453
-
-
Pal, D.K.1
Pong, A.W.2
Chung, W.K.3
-
238
-
-
79957603217
-
Epilepsy genetics - past, present, and future
-
Poduri A, Lowenstein D. Epilepsy genetics - past, present, and future. Curr Opin Genet Dev. 2011;21(3):325-332.
-
(2011)
Curr Opin Genet Dev
, vol.21
, Issue.3
, pp. 325-332
-
-
Poduri, A.1
Lowenstein, D.2
-
239
-
-
17444368005
-
Genetic epidemiology of epilepsy: A twin study
-
Sharma K. Genetic epidemiology of epilepsy: a twin study. Neurol India. 2005;53(1):93-98.
-
(2005)
Neurol India
, vol.53
, Issue.1
, pp. 93-98
-
-
Sharma, K.1
-
240
-
-
79959841853
-
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
-
Do CB, Tung JY, Dorfman E, et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 2011;7(6):e1002141.
-
(2011)
PLoS Genet
, vol.7
, Issue.6
-
-
Do, C.B.1
Tung, J.Y.2
Dorfman, E.3
-
241
-
-
0036137526
-
Risk tables for parkinsonism and Parkinson's disease
-
Elbaz A, Bower JH, Maraganore DM, et al. Risk tables for parkinsonism and Parkinson's disease. J Clin Epidemiol. 2002;55(1):25-31.
-
(2002)
J Clin Epidemiol
, vol.55
, Issue.1
, pp. 25-31
-
-
Elbaz, A.1
Bower, J.H.2
Maraganore, D.M.3
-
242
-
-
84858667775
-
Genetic basis of Parkinson's disease: Inheritance, penetrance, and expression
-
Schulte C, Gasser T. Genetic basis of Parkinson's disease: inheritance, penetrance, and expression. The Application of Clinical Genetics. 2011;4(67-80):67.
-
(2011)
The Application of Clinical Genetics
, vol.4
, Issue.67-80
, pp. 67
-
-
Schulte, C.1
Gasser, T.2
-
243
-
-
78751697723
-
Copy number variation in Parkinson's disease
-
Toft M, Ross OA. Copy number variation in Parkinson's disease. Genome Med. 2010;2(9):62.
-
(2010)
Genome Med
, vol.2
, Issue.9
, pp. 62
-
-
Toft, M.1
Ross, O.A.2
-
244
-
-
79952747862
-
Alzheimer's disease
-
Ballard C, Gauthier S, Corbett A, Brayne C, Aarsland D, Jones E. Alzheimer's disease. Lancet. 2011;377(9770):1019-1031.
-
(2011)
Lancet
, vol.377
, Issue.9770
, pp. 1019-1031
-
-
Ballard, C.1
Gauthier, S.2
Corbett, A.3
Brayne, C.4
Aarsland, D.5
Jones, E.6
-
245
-
-
77957927865
-
The genetics of Alzheimer disease: Back to the future
-
Bertram L, Lill CM, Tanzi RE. The genetics of Alzheimer disease: back to the future. Neuron. 2010;68(2):270-281.
-
(2010)
Neuron
, vol.68
, Issue.2
, pp. 270-281
-
-
Bertram, L.1
Lill, C.M.2
Tanzi, R.E.3
-
246
-
-
32244435907
-
Role of genes and environments for explaining Alzheimer disease
-
Gatz M, Reynolds CA, Fratiglioni L, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry. 2006;63(2):168-174.
-
(2006)
Arch Gen Psychiatry
, vol.63
, Issue.2
, pp. 168-174
-
-
Gatz, M.1
Reynolds, C.A.2
Fratiglioni, L.3
-
247
-
-
79959193198
-
Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
-
Goldman JS, Hahn SE, Catania J W, et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011;13(6):597-605.
-
(2011)
Genet Med
, vol.13
, Issue.6
, pp. 597-605
-
-
Goldman, J.S.1
Hahn, S.E.2
Catania, J.W.3
-
248
-
-
80052592396
-
Chromosomal microarray testing infuences medical management
-
Coulter ME, Miller DT, Harris DJ, et al. Chromosomal microarray testing infuences medical management. Genet Med. 2011;13(9): 770-776.
-
(2011)
Genet Med
, vol.13
, Issue.9
, pp. 770-776
-
-
Coulter, M.E.1
Miller, D.T.2
Harris, D.J.3
-
249
-
-
78651264784
-
An emerging 1q21.1 deletion-associated neu-rodevelopmental phenotype
-
Basel-Vanagaite L, Goldberg-Stern H, Mimouni-Bloch A, Shkalim V, Bohm D, Kohlhase J. An emerging 1q21.1 deletion-associated neu-rodevelopmental phenotype. J Child Neurol. 2011;26(1):113-116.
-
(2011)
J Child Neurol
, vol.26
, Issue.1
, pp. 113-116
-
-
Basel-Vanagaite, L.1
Goldberg-Stern, H.2
Mimouni-Bloch, A.3
Shkalim, V.4
Bohm, D.5
Kohlhase, J.6
-
250
-
-
74549171440
-
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
-
Brunet A, Armengol L, Heine D, et al. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. BMC Med Genet. 2009;10:144.
-
(2009)
BMC Med Genet
, vol.10
, pp. 144
-
-
Brunet, A.1
Armengol, L.2
Heine, D.3
-
251
-
-
2942668448
-
Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease
-
Christiansen J, Dyck JD, Elyas BG, et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res. 2004;94(11):1429-1435.
-
(2004)
Circ Res
, vol.94
, Issue.11
, pp. 1429-1435
-
-
Christiansen, J.1
Dyck, J.D.2
Elyas, B.G.3
-
252
-
-
73549099101
-
Copy number variation in schizophrenia in the Japanese population
-
Ikeda M, Aleksic B, Kirov G, et al. Copy number variation in schizophrenia in the Japanese population. Biol Psychiatry. 2010;67(3): 283-286.
-
(2010)
Biol Psychiatry
, vol.67
, Issue.3
, pp. 283-286
-
-
Ikeda, M.1
Aleksic, B.2
Kirov, G.3
-
253
-
-
80053903662
-
Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems
-
Sahoo T, Theisen A, Rosenfeld JA, et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genet Med. 2011;13(10):868-880.
-
(2011)
Genet Med
, vol.13
, Issue.10
, pp. 868-880
-
-
Sahoo, T.1
Theisen, A.2
Rosenfeld, J.A.3
-
254
-
-
80052487379
-
Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder
-
Vu TH, Coccaro EF, Eichler EE, Girirajan S. Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder. Am J Med Genet B Neuropsychiatr Genet. 2011;156B(7): 808-816.
-
(2011)
Am J Med Genet B Neuropsychiatr Genet
, vol.156 B
, Issue.7
, pp. 808-816
-
-
Vu, T.H.1
Coccaro, E.F.2
Eichler, E.E.3
Girirajan, S.4
-
255
-
-
60849125859
-
Expanding the clinical phe-notype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
-
Ballif BC, Theisen A, Coppinger J, et al. Expanding the clinical phe-notype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet. 2008;1:8.
-
(2008)
Mol Cytogenet
, vol.1
, pp. 8
-
-
Ballif, B.C.1
Theisen, A.2
Coppinger, J.3
-
256
-
-
77953534409
-
Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder
-
Clayton-Smith J, Giblin C, Smith RA, Dunn C, Willatt L. Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. Clin Dysmorphol. 2010;19(3):128-132.
-
(2010)
Clin Dysmorphol
, vol.19
, Issue.3
, pp. 128-132
-
-
Clayton-Smith, J.1
Giblin, C.2
Smith, R.A.3
Dunn, C.4
Willatt, L.5
-
257
-
-
68049113476
-
3q29 Microdeletion: A mental retardation disorder unassociated with a recognizable pheno-type in two mother-daughter pairs
-
Digilio MC, Bernardini L, Mingarelli R, et al. 3q29 Microdeletion: a mental retardation disorder unassociated with a recognizable pheno-type in two mother-daughter pairs. Am J Med Genet A. 2009;149A(8): 1777-1781.
-
(2009)
Am J Med Genet A
, vol.149 A
, Issue.8
, pp. 1777-1781
-
-
Digilio, M.C.1
Bernardini, L.2
Mingarelli, R.3
-
258
-
-
77955568656
-
Microdeletions of 3q29 confer high risk for schizophrenia
-
Mulle JG, Dodd A F, McGrath JA, et al. Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet. 2010;87(2):229-236.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.2
, pp. 229-236
-
-
Mulle, J.G.1
Dodd, A.F.2
McGrath, J.A.3
-
259
-
-
77957895378
-
Autistic and psychiatric fndings associated with the 3q29 microde-letion syndrome: Case report and review
-
Quintero-Rivera F, Sharifi-Hannauer P, Martinez-Agosto JA. Autistic and psychiatric fndings associated with the 3q29 microde-letion syndrome: case report and review. Am J Med Genet A. 2010;152A(10):2459-2467.
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.10
, pp. 2459-2467
-
-
Quintero-Rivera, F.1
Sharifi-Hannauer, P.2
Martinez-Agosto, J.A.3
-
260
-
-
79953057217
-
Duplications of the neuro-peptide receptor gene VIPR2 confer signifcant risk for schizophrenia
-
Vacic V, McCarthy S, Malhotra D, et al. Duplications of the neuro-peptide receptor gene VIPR2 confer signifcant risk for schizophrenia. Nature. 2011;471(7339):499-503.
-
(2011)
Nature
, vol.471
, Issue.7339
, pp. 499-503
-
-
Vacic, V.1
McCarthy, S.2
Malhotra, D.3
-
261
-
-
20544435269
-
3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome
-
Willatt L, Cox J, Barber J, et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005;77(1):154-160.
-
(2005)
Am J Hum Genet
, vol.77
, Issue.1
, pp. 154-160
-
-
Willatt, L.1
Cox, J.2
Barber, J.3
-
262
-
-
0031444629
-
Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
-
Browne CE, Dennis NR, Maher E, et al. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet. 1997;61(6):1342-1352.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.6
, pp. 1342-1352
-
-
Browne, C.E.1
Dennis, N.R.2
Maher, E.3
-
263
-
-
77952885487
-
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13
-
Chamberlain SJ, Lalande M. Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13. Neurobiol Dis. 2010;39(1):13-20.
-
(2010)
Neurobiol Dis
, vol.39
, Issue.1
, pp. 13-20
-
-
Chamberlain, S.J.1
Lalande, M.2
-
264
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook EH Jr, Lindgren V, Leventhal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997;60(4):928-934.
-
(1997)
Am J Hum Genet
, vol.60
, Issue.4
, pp. 928-934
-
-
Cook Jr., E.H.1
Lindgren, V.2
Leventhal, B.L.3
-
265
-
-
0033549034
-
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13
-
Gurrieri F, Battaglia A, Torrisi L, et al. Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13. Neurolog y. 1999;52(8):1694-1697.
-
(1999)
Neurolog Y
, vol.52
, Issue.8
, pp. 1694-1697
-
-
Gurrieri, F.1
Battaglia, A.2
Torrisi, L.3
-
266
-
-
77951206469
-
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
-
Hogart A, Wu D, LaSalle JM, Schanen NC. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis. 2010;38(2):181-191.
-
(2010)
Neurobiol Dis
, vol.38
, Issue.2
, pp. 181-191
-
-
Hogart, A.1
Wu, D.2
Lasalle, J.M.3
Schanen, N.C.4
-
267
-
-
79955480518
-
Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother
-
Michelson M, Eden A, Vinkler C, et al. Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother. Eur J Paediatr Neurol. 2011;15(3):230-233.
-
(2011)
Eur J Paediatr Neurol
, vol.15
, Issue.3
, pp. 230-233
-
-
Michelson, M.1
Eden, A.2
Vinkler, C.3
-
268
-
-
0041320864
-
Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment
-
Thomas JA, Johnson J, Peterson Kraai TL, et al. Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet A. 2003;119A(2):111-120.
-
(2003)
Am J Med Genet A
, vol.119 A
, Issue.2
, pp. 111-120
-
-
Thomas, J.A.1
Johnson, J.2
Peterson Kraai, T.L.3
-
269
-
-
67449114040
-
Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
-
Ben-Shachar S, Lanpher B, German JR, et al. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. J Med Genet. 2009;46(6):382-388.
-
(2009)
J Med Genet
, vol.46
, Issue.6
, pp. 382-388
-
-
Ben-Shachar, S.1
Lanpher, B.2
German, J.R.3
-
270
-
-
68049129849
-
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
-
van Bon B W, Mefford HC, Menten B, et al. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet. 2009;46(8):511-523.
-
(2009)
J Med Genet
, vol.46
, Issue.8
, pp. 511-523
-
-
van Bon, B.W.1
Mefford, H.C.2
Menten, B.3
-
271
-
-
79953325912
-
Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome
-
Cubells J F, Deoreo EH, Harvey PD, et al. Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. Am J Med Genet A. 2011;155A(4):805-810.
-
(2011)
Am J Med Genet A
, vol.155 A
, Issue.4
, pp. 805-810
-
-
Cubells, J.F.1
Deoreo, E.H.2
Harvey, P.D.3
-
272
-
-
70350774172
-
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: Precedent for disorders with complex inheritance
-
Dibbens LM, Mullen S, Helbig I, et al. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet. 2009;18(19): 3626-3631.
-
(2009)
Hum Mol Genet
, vol.18
, Issue.19
, pp. 3626-3631
-
-
Dibbens, L.M.1
Mullen, S.2
Helbig, I.3
-
273
-
-
59149096726
-
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
-
Helbig I, Mefford HC, Sharp AJ, et al. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41(2): 160-162.
-
(2009)
Nat Genet
, vol.41
, Issue.2
, pp. 160-162
-
-
Helbig, I.1
Mefford, H.C.2
Sharp, A.J.3
-
275
-
-
65949085347
-
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
-
Miller DT, Shen Y, Weiss LA, et al. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009;46(4):242-248.
-
(2009)
J Med Genet
, vol.46
, Issue.4
, pp. 242-248
-
-
Miller, D.T.1
Shen, Y.2
Weiss, L.A.3
-
276
-
-
67349176356
-
A 15q13.3 microdeletion segregating with autism
-
Pagnamenta AT, Wing K, Sadighi Akha E, et al. A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet. 2009;17(5):687-692.
-
(2009)
Eur J Hum Genet
, vol.17
, Issue.5
, pp. 687-692
-
-
Pagnamenta, A.T.1
Wing, K.2
Sadighi Akha, E.3
-
277
-
-
39749154724
-
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
-
Sharp AJ, Mefford HC, Li K, et al. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet. 2008;40(3):322-328.
-
(2008)
Nat Genet
, vol.40
, Issue.3
, pp. 322-328
-
-
Sharp, A.J.1
Mefford, H.C.2
Li, K.3
-
278
-
-
70649089208
-
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
-
Shinawi M, Schaaf C P, Bhatt SS, et al. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nat Genet. 2009;41(12):1269-1271.
-
(2009)
Nat Genet
, vol.41
, Issue.12
, pp. 1269-1271
-
-
Shinawi, M.1
Schaaf, C.P.2
Bhatt, S.S.3
-
279
-
-
77952777974
-
Duplication 16p11.2 in a child with infantile seizure disorder
-
Bedoyan JK, Kumar RA, Sudi J, et al. Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A. 2010;152A(6): 1567-1574.
-
(2010)
Am J Med Genet A
, vol.152 A
, Issue.6
, pp. 1567-1574
-
-
Bedoyan, J.K.1
Kumar, R.A.2
Sudi, J.3
-
280
-
-
77949718910
-
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
-
Fernandez BA, Roberts W, Chung B, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. J Med Genet. 2010;47(3):195-203.
-
(2010)
J Med Genet
, vol.47
, Issue.3
, pp. 195-203
-
-
Fernandez, B.A.1
Roberts, W.2
Chung, B.3
-
281
-
-
80051709029
-
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
-
95ra75
-
Lionel AC, Crosbie J, Barbosa N, et al. Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. Sci Transl Med. 2011;3(95):95ra75.
-
(2011)
Sci Transl Med
, vol.3
, Issue.95
-
-
Lionel, A.C.1
Crosbie, J.2
Barbosa, N.3
-
282
-
-
70350626873
-
Microduplications of 16p11.2 are associated with schizophrenia
-
McCarthy SE, Makarov V, Kirov G, et al. Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet. 2009;41(11): 1223-1227.
-
(2009)
Nat Genet
, vol.41
, Issue.11
, pp. 1223-1227
-
-
McCarthy, S.E.1
Makarov, V.2
Kirov, G.3
-
283
-
-
40749089626
-
Structural variation of chromosomes in autism spectrum disorder
-
Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2): 477-488.
-
(2008)
Am J Hum Genet
, vol.82
, Issue.2
, pp. 477-488
-
-
Marshall, C.R.1
Noor, A.2
Vincent, J.B.3
-
284
-
-
85128251104
-
Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
-
Rosenfeld JA, Coppinger J, Bejjani BA, et al. Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications. J Neurodev Disord. 2010;2(1):26-38.
-
(2010)
J Neurodev Disord
, vol.2
, Issue.1
, pp. 26-38
-
-
Rosenfeld, J.A.1
Coppinger, J.2
Bejjani, B.A.3
-
285
-
-
78651407004
-
Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: Three patients with syringomyelia
-
Schaaf C P, Goin-Kochel R P, Nowell K P, et al. Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia. Eur J Hum Genet. 2011;19(2):152-156.
-
(2011)
Eur J Hum Genet
, vol.19
, Issue.2
, pp. 152-156
-
-
Schaaf, C.P.1
Goin-Kochel, R.P.2
Nowell, K.P.3
-
286
-
-
77950564908
-
Clinical genetic testing for patients with autism spectrum disorders
-
Shen Y, Dies KA, Holm IA, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4):e727-e735.
-
(2010)
Pediatrics
, vol.125
, Issue.4
-
-
Shen, Y.1
Dies, K.A.2
Holm, I.A.3
-
287
-
-
77953704493
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
-
Shinawi M, Liu P, Kang SH, et al. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010;47(5):332-341.
-
(2010)
J Med Genet
, vol.47
, Issue.5
, pp. 332-341
-
-
Shinawi, M.1
Liu, P.2
Kang, S.H.3
-
288
-
-
39049163023
-
Association between microdeletion and microduplication at 16p11.2 and autism
-
Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008; 358(7):667-675.
-
(2008)
N Engl J Med
, vol.358
, Issue.7
, pp. 667-675
-
-
Weiss, L.A.1
Shen, Y.2
Korn, J.M.3
-
289
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79(4): 348-351.
-
(1998)
Arch Dis Child
, vol.79
, Issue.4
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
Liling, J.3
Wren, C.4
-
290
-
-
81855178259
-
De novo rates and selection of schizophrenia-associated copy number variants
-
Rees E, Moskvina V, Owen MJ, O'Donovan MC, Kirov G. De novo rates and selection of schizophrenia-associated copy number variants. Biol Psychiatry. 2011;70(12):1109-1114.
-
(2011)
Biol Psychiatry
, vol.70
, Issue.12
, pp. 1109-1114
-
-
Rees, E.1
Moskvina, V.2
Owen, M.J.3
O'Donovan, M.C.4
Kirov, G.5
-
291
-
-
77955364508
-
Penetrance for copy number variants associated with schizophrenia
-
Vassos E, Collier DA, Holden S, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet. 2010;19(17): 3477-3481.
-
(2010)
Hum Mol Genet
, vol.19
, Issue.17
, pp. 3477-3481
-
-
Vassos, E.1
Collier, D.A.2
Holden, S.3
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