Copy Number Variants: A New Molecular Frontier in Clinical Psychiatry

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

(2010) Erin L. Heinzen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletions of 3q29 Confer High Risk for Schizophrenia

(2010) Jennifer Gladys Mulle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease

(2010) Matthew G. Sampson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Association of RANBP1 haplotype with smooth pursuit eye movement abnormality

(2010) Hyun Sub Cheong et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Clavicular pseudoarthrosis, anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions

(2010) Milen Velinov et al.   European Journal of Medical Genetics

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

(2010) Ruxandra Bachmann-Gagescu et al.   GENETICS IN MEDICINE

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion

(2010) Chantal Loirat et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes

(2010) Hilgo Bruining et al.   PLoS One

The role of SAP97 in synaptic glutamate receptor dynamics

(2010) MacKenzie A. Howard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dlg1-PTEN Interaction Regulates Myelin Thickness to Prevent Damaging Peripheral Nerve Overmyelination

(2010) L. Cotter et al.   SCIENCE

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

The Role of DNA Copy Number Variation in Schizophrenia

(2009) Gloria W.C. Tam et al.   BIOLOGICAL PSYCHIATRY

Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort

(2009) A. Middeldorp et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

(2009) Sandesh Chakravarthy Sreenath Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi 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

Molecular mechanisms underlying glutamatergic dysfunction in schizophrenia: therapeutic implications

(2009) Pablo A. Gaspar et al.   JOURNAL OF NEUROCHEMISTRY

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Transcriptional control of axonal guidance and sorting in dorsal interneurons by the Lim-HD proteins Lhx9 and Lhx1

(2009) Oshri Avraham et al.   Neural Development

Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome

(2009) D. W. Meechan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

PAK signalling in neuronal physiology

(2008) Patricia Kreis et al.   CELLULAR SIGNALLING

A 15q13.3 microdeletion segregating with autism

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

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

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

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

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

(2008) Blake C Ballif et al.   Molecular Cytogenetics

Prevalence of 22q11.2 deletions in 311 Dutch patients with schizophrenia

(2007) Mechteld L.C. Hoogendoorn et al.   SCHIZOPHRENIA RESEARCH