Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

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

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

Duplication hotspots, rare genomic disorders, and common disease

(2009) Heather C Mefford et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

The DISC1 Pathway Modulates Expression of Neurodevelopmental, Synaptogenic and Sensory Perception Genes

(2009) William Hennah et al.   PLoS One

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

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

(2008) Ashley S. Pawlisz et al.   HUMAN MOLECULAR GENETICS

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

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

Emerging themes and new challenges in defining the role of structural variation in human disease

(2008) Andrew J. Sharp   HUMAN MUTATION

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

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   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

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

Mechanisms of human inherited epilepsies

(2008) Christopher A. Reid et al.   PROGRESS IN NEUROBIOLOGY