Dosage sensitivity is a major determinant of human copy number variant pathogenicity

The impact and origin of copy number variations in the Oryza species

(2016) Zetao Bai et al.   BMC GENOMICS

Spatial Colocalization of Human Ohnolog Pairs Acts to Maintain Dosage-Balance

(2016) Ting Xie et al.   MOLECULAR BIOLOGY AND EVOLUTION

Divergence patterns of genic copy number variation in natural populations of the house mouse (Mus musculus domesticus) reveal three conserved genes with major population-specific expansions

(2015) Željka Pezer et al.   GENOME RESEARCH

The clustering of functionally related genes contributes to CNV-mediated disease

(2015) Tallulah Andrews et al.   GENOME RESEARCH

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

(2014) Joseph T. Glessner et al.   CIRCULATION RESEARCH

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

Copy number variants are a common cause of non-syndromic hearing loss

(2014) A Shearer et al.   Genome Medicine

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

Understanding the Role of Tbx1 as a Candidate Gene for 22q11.2 Deletion Syndrome

(2013) Shan Gao et al.   CURRENT ALLERGY AND ASTHMA REPORTS

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

(2013) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

Ohnologs are overrepresented in pathogenic copy number mutations

(2013) A. McLysaght et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genome-wide deserts for copy number variation in vertebrates

(2013) Takashi Makino et al.   Nature Communications

Identification of genome-wide copy number variations among diverse pig breeds by array CGH

(2012) Yan Li et al.   BMC GENOMICS

Concentration-dependent control of pyruvate kinase M mutually exclusive splicing by hnRNP proteins

(2012) Mo Chen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

dbVar and DGVa: public archives for genomic structural variation

(2012) Ilkka Lappalainen et al.   NUCLEIC ACIDS RESEARCH

Gene balance hypothesis: Connecting issues of dosage sensitivity across biological disciplines

(2012) J. A. Birchler et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Morphogen Gradients: From Generation to Interpretation

(2011) Katherine W. Rogers et al.   Annual Review of Cell and Developmental Biology

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

Genome-wide association identifies diverse causes of common variable immunodeficiency

(2011) Jordan S. Orange et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

g:Profiler—a web server for functional interpretation of gene lists (2011 update)

(2011) Jüri Reimand et al.   NUCLEIC ACIDS RESEARCH

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

Copy Number Variation Shapes Genome Diversity in Arabidopsis Over Immediate Family Generational Scales

(2010) Seth DeBolt   Genome Biology and Evolution

Analysis of copy number variations among diverse cattle breeds

(2010) G. E. Liu et al.   GENOME RESEARCH

Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution

(2010) M. Volker et al.   GENOME RESEARCH

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

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Ohnologs in the human genome are dosage balanced and frequently associated with disease

(2010) T. Makino et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Relationship among Gene Expression, the Evolution of Gene Dosage, and the Rate of Protein Evolution

(2010) Jean-François Gout et al.   PLoS Genetics

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Copy Number Variation in Human Health, Disease, and Evolution

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

Duplication hotspots, rare genomic disorders, and common disease

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

A generalized model of gene dosage and dominant negative effects in macromolecular complexes

(2009) Reiner A. Veitia   FASEB JOURNAL

The genomic architecture of segmental duplications and associated copy number variants in dogs

(2009) T. J. Nicholas et al.   GENOME RESEARCH

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

(2009) Steven C Greenway et al.   NATURE GENETICS

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

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

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