Manuscript Word Count: Abstract: 193; Text, with citations, without references: 3921 Number of Tables: 2; Supplemental Files: Yes Whole-genome sequencing suggests schizophrenia risk mechanisms in humans with 22q11.2 deletion syndrome

[1]  Murray J. Cairns,et al.  MicroRNA and Posttranscriptional Dysregulation in Psychiatry , 2015, Biological Psychiatry.

[2]  A. Lang,et al.  Response to clozapine in a clinically identifiable subtype of schizophrenia. , 2015, The British journal of psychiatry : the journal of mental science.

[3]  J. R. MacDonald,et al.  A copy number variation map of the human genome , 2015, Nature Reviews Genetics.

[4]  Christian R. Marshall,et al.  Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature , 2014, Genetics in Medicine.

[5]  S. Scherer,et al.  Whole-genome sequencing of quartet families with autism spectrum disorder , 2015, Nature Medicine.

[6]  Eric M. Morrow,et al.  MicroRNAs in Copy Number Variants in Schizophrenia: Misregulation of Genome-wide Gene Expression Programs , 2015, Biological Psychiatry.

[7]  Daniele Merico,et al.  Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets , 2015, Biological Psychiatry.

[8]  B. Frey,et al.  The human splicing code reveals new insights into the genetic determinants of disease , 2015, Science.

[9]  Brian Chung,et al.  Practical guidelines for managing adults with 22q11.2 deletion syndrome , 2015, Genetics in Medicine.

[10]  Marcel E. Dinger,et al.  lncRNAdb v2.0: expanding the reference database for functional long noncoding RNAs , 2014, Nucleic Acids Res..

[11]  D. Rujescu,et al.  Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes , 2014, PloS one.

[12]  Daniele Merico,et al.  MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome , 2014, Front. Neurol..

[13]  Pankaj Chopra,et al.  Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences. , 2014, Human molecular genetics.

[14]  Stephan Eliez,et al.  Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. , 2014, The American journal of psychiatry.

[15]  Seungtai Yoon,et al.  De novo Mutations in Schizophrenia Implicate Chromatin Remodeling and Support a Genetic Overlap with Autism and Intellectual Disability , 2014, Molecular Psychiatry.

[16]  J. Mattick,et al.  The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing , 2014, Molecular Psychiatry.

[17]  Stephen J. Guter,et al.  Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders , 2014, American journal of human genetics.

[18]  Eric S. Lander,et al.  A polygenic burden of rare disruptive mutations in schizophrenia , 2014, Nature.

[19]  E. Banks,et al.  De novo mutations in schizophrenia implicate synaptic networks , 2014, Nature.

[20]  G. Kirov,et al.  Analysis of copy number variations at 15 schizophrenia-associated loci , 2014, The British journal of psychiatry : the journal of mental science.

[21]  Y Iwayama,et al.  22q11.2 deletion carriers and schizophrenia-associated novel variants , 2014, British Journal of Psychiatry.

[22]  A. Bassett,et al.  Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome , 2014, Clinical endocrinology.

[23]  Markus M. Nöthen,et al.  MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review , 2013, Front. Mol. Neurosci..

[24]  Daniele Merico,et al.  Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. , 2013, Human molecular genetics.

[25]  Ekaterina Rogaeva,et al.  Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications. , 2013, JAMA neurology.

[26]  Timo Krings,et al.  Hippocampal Malrotation is Associated with Chromosome 22q11.2 Microdeletion , 2013, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[27]  L. Siever,et al.  Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network , 2013, Cell.

[28]  Carl Baker,et al.  Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families. , 2013, JAMA psychiatry.

[29]  Michael J Owen,et al.  Schizophrenia two‐hit hypothesis in velo‐cardio facial syndrome , 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[30]  Anne S. Bassett,et al.  Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion , 2013, Schizophrenia Research.

[31]  S. Gabriel,et al.  Analysis of 6,515 exomes reveals a recent origin of most human protein-coding variants , 2012, Nature.

[32]  Stephen T Warren,et al.  Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS , 2012, Journal of Medical Genetics.

[33]  Uwe Ohler,et al.  FMR1 targets distinct mRNA sequence elements to regulate protein expression , 2012, Nature.

[34]  Anne S. Bassett,et al.  miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome , 2012, Front. Gene..

[35]  Donna M. Martin,et al.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants. , 2012, The New England journal of medicine.

[36]  S. Levy,et al.  De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia , 2012, Nature Genetics.

[37]  David G. Knowles,et al.  The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression , 2012, Genome research.

[38]  Jari Tiihonen,et al.  Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. , 2012, American journal of human genetics.

[39]  Daniele Merico,et al.  Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways , 2012, PLoS genetics.

[40]  Gregory Costain,et al.  Functional outcomes of adults with 22q11.2 deletion syndrome , 2012, Genetics in Medicine.

[41]  Murray J. Cairns,et al.  MicroRNA dysregulation in schizophrenia , 2012, Neurobiology of Disease.

[42]  Ahmad M. Khalil,et al.  Emerging functional and mechanistic paradigms of mammalian long non-coding RNAs , 2012, Nucleic acids research.

[43]  Jessica C. Ebert,et al.  Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads , 2012, J. Comput. Biol..

[44]  Gregory Costain,et al.  Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era , 2012, The application of clinical genetics.

[45]  S Purcell,et al.  De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia , 2011, Molecular Psychiatry.

[46]  J. Buizer-Voskamp,et al.  Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research , 2011, Cytogenetic and Genome Research.

[47]  Cole Trapnell,et al.  Integrative annotation of human large intergenic noncoding RNAs reveals global properties and specific subclasses. , 2011, Genes & development.

[48]  S. Lok,et al.  Increased exonic de novo mutation rate in individuals with schizophrenia , 2011, Nature Genetics.

[49]  J L Rapoport,et al.  Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia , 2011, Molecular Psychiatry.

[50]  D. Licatalosi,et al.  FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism , 2011, Cell.

[51]  A. Bassett,et al.  Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome , 2011, Behavior genetics.

[52]  A. Bassett,et al.  Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome. , 2011, The American journal of cardiology.

[53]  Richard David-Rus,et al.  Altered MicroRNA Expression Profiles in Postmortem Brain Samples from Individuals with Schizophrenia and Bipolar Disorder , 2011, Biological Psychiatry.

[54]  S. Grant,et al.  Characterization of the proteome, diseases and evolution of the human postsynaptic density , 2011, Nature Neuroscience.

[55]  Robert Blelloch,et al.  Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex , 2011, Neural Development.

[56]  Stephen W Scherer,et al.  Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. , 2010, The American journal of psychiatry.

[57]  A. Bassett,et al.  Elevated prevalence of generalized anxiety disorder in adults with 22q11.2 deletion syndrome. , 2010, The American journal of psychiatry.

[58]  H. Hakonarson,et al.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.

[59]  Bin Xu,et al.  MicroRNAs in psychiatric and neurodevelopmental disorders , 2010, Brain Research.

[60]  Tony J. Simon,et al.  22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia , 2010, Nature Reviews Neuroscience.

[61]  P. Stankiewicz,et al.  Structural variation in the human genome and its role in disease. , 2010, Annual review of medicine.

[62]  Robert B. Hartlage,et al.  This PDF file includes: Materials and Methods , 2009 .

[63]  Joseph Beyene,et al.  Using the ratio of means as the effect size measure in combining results of microarray experiments , 2009, BMC Systems Biology.

[64]  D J Mikulis,et al.  Neuropathologic features in adults with 22q11.2 deletion syndrome. , 2009, Cerebral cortex.

[65]  Christian R. Marshall,et al.  Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome , 2008, Human molecular genetics.

[66]  Paul Pavlidis,et al.  Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model , 2008, Nature Genetics.

[67]  K. Murphy,et al.  Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. , 2008, Developmental disabilities research reviews.

[68]  T. Arinami,et al.  Analyses of the associations between the genes of 22q11 deletion syndrome and schizophrenia , 2006, Journal of Human Genetics.

[69]  Sam Griffiths-Jones,et al.  The microRNA Registry , 2004, Nucleic Acids Res..

[70]  Rosanna Weksberg,et al.  The schizophrenia phenotype in 22q11 deletion syndrome. , 2003, The American journal of psychiatry.

[71]  H. Hotelling.  The Generalization of Student’s Ratio , 1931 .