De novo mutations in schizophrenia implicate synaptic networks
De novo mutations in schizophrenia implicate synaptic networks
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Author / Creator
Fromer, Menachem , Pocklington, Andrew J. , Kavanagh, David H. , Williams, Hywel J. , Dwyer, Sarah , Gormley, Padhraig , Georgieva, Lyudmila , Rees, Elliott , Palta, Priit , Ruderfer, Douglas M. , Carrera, Noa , Humphreys, Isla , Johnson, Jessica S. , Roussos, Panos , Barker, Douglas D. , Banks, Eric , Milanova, Vihra , Grant, Seth G. , Hannon, Eilis , Rose, Samuel A. , Chambert, Kimberly , Mahajan, Milind , Scolnick, Edward M. , Moran, Jennifer L. , Kirov, George , Palotie, Aarno , McCarroll, Steven A. , Holmans, Peter , Sklar, Pamela , Owen, Michael J. , Purcell, Shaun M. and O’Donovan, Michael C.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Inherited alleles account for most of the genetic risk for schizophrenia. However, new (
de novo
) mutations, in the form of large chromosomal copy number changes, occur in a small fraction of cases and disproportionally disrupt genes encoding postsynaptic proteins. Here we show that small
de novo
mutations, affecting one or a few nucle...
Alternative Titles
Full title
De novo mutations in schizophrenia implicate synaptic networks
Authors, Artists and Contributors
Author / Creator
Pocklington, Andrew J.
Kavanagh, David H.
Williams, Hywel J.
Dwyer, Sarah
Gormley, Padhraig
Georgieva, Lyudmila
Rees, Elliott
Palta, Priit
Ruderfer, Douglas M.
Carrera, Noa
Humphreys, Isla
Johnson, Jessica S.
Roussos, Panos
Barker, Douglas D.
Banks, Eric
Milanova, Vihra
Grant, Seth G.
Hannon, Eilis
Rose, Samuel A.
Chambert, Kimberly
Mahajan, Milind
Scolnick, Edward M.
Moran, Jennifer L.
Kirov, George
Palotie, Aarno
McCarroll, Steven A.
Holmans, Peter
Sklar, Pamela
Owen, Michael J.
Purcell, Shaun M.
O’Donovan, Michael C.
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4237002
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4237002
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature12929