Copy Number Variation in Human Health, Disease, and Evolution

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mobile elements create structural variation: Analysis of a complete human genome

(2009) J. Xing et al.   GENOME RESEARCH

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Complex human chromosomal and genomic rearrangements

(2009) Feng Zhang et al.   TRENDS IN GENETICS

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

(2008) Terry Vrijenhoek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Retrotransposons Revisited: The Restraint and Rehabilitation of Parasites

(2008) John L. Goodier et al.   CELL

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

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

Copy number variation at the breakpoint region of isochromosome 17q

(2008) C. M.B. Carvalho et al.   GENOME RESEARCH

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

(2008) M. Bauters et al.   GENOME RESEARCH

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

(2008) I. Cusco et al.   GENOME RESEARCH

Analysis of copy number variants and segmental duplications in the human genome: Evidence for a change in the process of formation in recent evolutionary history

(2008) P. M. Kim et al.   GENOME RESEARCH

Copy number ofFCGR3B,which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake

(2008) Lisa C. Willcocks et al.   JOURNAL OF EXPERIMENTAL MEDICINE

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

(2008) S R Lalani 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

Schizophrenia: Incriminating genomic evidence

(2008) James R. Lupski   NATURE

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

Accurate whole human genome sequencing using reversible terminator chemistry

(2008) David R. Bentley et al.   NATURE

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

(2008) Andrew J Sharp et al.   NATURE GENETICS

Mouse segmental duplication and copy number variation

(2008) Xinwei She et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

A common sequence motif associated with recombination hot spots and genome instability in humans

(2008) Simon Myers 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

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

Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

(2008) X.-Y. Lu et al.   PEDIATRICS

L1 recombination-associated deletions generate human genomic variation

(2008) K. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Natural Selection Shapes Genome-Wide Patterns of Copy-Number Polymorphism in Drosophila melanogaster

(2008) J. J. Emerson et al.   SCIENCE

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE