The role of copy number variation in schizophrenia

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

(2009) Marianne Doornbos et al.   European Journal of Medical Genetics

Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

(2009) E.K. Bijlsma et al.   European Journal of Medical Genetics

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

(2009) H. C. Mefford et al.   GENOME RESEARCH

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

(2009) S Ben-Shachar et al.   JOURNAL OF MEDICAL GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

(2009) Anna C. Need et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   HUMAN MOLECULAR GENETICS

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) F D Hannes et al.   JOURNAL OF MEDICAL GENETICS

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Reversing Neurodevelopmental Disorders in Adults

(2008) Dan Ehninger et al.   NEURON

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE