Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Authors
Keywords
-
Journal
Nature Communications
Volume 8, Issue -, Pages 14366
Publisher
Springer Nature
Online
2017-02-08
DOI
10.1038/ncomms14366
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- 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
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started