Evidence that duplications of 22q11.2 protect against schizophrenia

Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders

(2013) N Hiroi et al.   MOLECULAR PSYCHIATRY

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Estimates of penetrance for recurrent pathogenic copy-number variations

(2012) Jill A. Rosenfeld et al.   GENETICS IN MEDICINE

Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC

(2012) M L Hamshere et al.   MOLECULAR PSYCHIATRY

Functional Gene-Expression Analysis Shows Involvement of Schizophrenia-Relevant Pathways in Patients with 22q11 Deletion Syndrome

(2012) Nico J. M. van Beveren et al.   PLoS One

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Suggestion of Roles for Both Common and Rare Risk Variants in Genome-wide Studies of Schizophrenia

(2010) Michael J. Owen et al.   ARCHIVES OF GENERAL PSYCHIATRY

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Microduplication 22q11.2: A new chromosomal syndrome

(2009) Marie-France Portnoï   European Journal of Medical Genetics

Velo-cardio-facial syndrome: 30 Years of study

(2008) Robert J. Shprintzen   Developmental Disabilities Research Reviews

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

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

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