Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Human copy number polymorphic genes

(2009) J.A. Bailey et al.   CYTOGENETIC AND GENOME RESEARCH

Deeply conserved chordate noncoding sequences preserve genome synteny but do not drive gene duplicate retention

(2009) A. L. Hufton et al.   GENOME RESEARCH

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study

(2009) Dominic J. McMullan et al.   HUMAN MUTATION

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

(2009) Janita Thusberg et al.   HUMAN MUTATION

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

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Computational analysis of splicing errors and mutations in human transcripts

(2008) Yerbol Z Kurmangaliyev et al.   BMC GENOMICS

Molecular Cytogenetics and Cytogenomics of Brain Diseases

(2008) I. Iourov et al.   CURRENT GENOMICS

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications

(2008) Vinh T Dang et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reduced purifying selection prevails over positive selection in human copy number variant evolution

(2008) D.-Q. Nguyen et al.   GENOME RESEARCH

Copy number variation and evolution in humans and chimpanzees

(2008) G. H. Perry et al.   GENOME RESEARCH

Genomic microarrays in mental retardation: A practical workflow for diagnostic applications

(2008) David A. Koolen et al.   HUMAN MUTATION

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd 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

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

(2008) Steven A McCarroll et al.   NATURE GENETICS

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

The functional impact of structural variation in humans

(2008) Matthew E. Hurles et al.   TRENDS IN GENETICS