- Home
- Publications
- Publication Search
- Publication Details
Title
Ohnologs are overrepresented in pathogenic copy number mutations
Authors
Keywords
-
Journal
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume 111, Issue 1, Pages 361-366
Publisher
Proceedings of the National Academy of Sciences
Online
2013-12-25
DOI
10.1073/pnas.1309324111
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
- (2012) Dheeraj Malhotra et al. CELL
- Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype
- (2012) N Hoppman-Chaney et al. CLINICAL GENETICS
- Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders
- (2012) Hannah Boulding et al. HUMAN MUTATION
- Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
- (2012) David A Koolen et al. NATURE GENETICS
- Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome
- (2012) E. Pessia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications
- (2011) Douglas F. Levinson et al. AMERICAN JOURNAL OF PSYCHIATRY
- The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function
- (2011) Tanguy Araud et al. BIOCHEMICAL PHARMACOLOGY
- De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants
- (2011) Elliott Rees et al. BIOLOGICAL PSYCHIATRY
- Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
- (2011) Anne Gregor et al. BMC Medical Genetics
- Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
- (2011) Paweł Stankiewicz et al. HUMAN MUTATION
- Cleft palate, retrognathia and congenital heart disease in velo-cardio-facial syndrome: A phenotype correlation study
- (2011) Marcia A. Friedman et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- (2011) Sébastien Jacquemont et al. NATURE
- Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
- (2011) Vladimir Vacic et al. NATURE
- Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
- (2011) Dalila Pinto et al. NATURE BIOTECHNOLOGY
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
- (2011) Stephan J. Sanders et al. NEURON
- Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections
- (2011) Shao-Qing Kuang et al. PLoS Genetics
- Microdeletions of 3q29 Confer High Risk for Schizophrenia
- (2010) Jennifer Gladys Mulle et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
- (2010) Daniel Moreno-De-Luca et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of Aneuploidy-Tolerating Mutations
- (2010) Eduardo M. Torres et al. CELL
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- 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
- Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
- (2010) Heather C. Mefford et al. PLoS Genetics
- CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila
- (2009) Christiane Zweier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
- (2009) Nathalie Van der Aa et al. European Journal of Medical Genetics
- Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
- (2009) George Kirov et al. HUMAN MOLECULAR GENETICS
- Copy number variations of chromosome 16p13.1 region associated with schizophrenia
- (2009) A Ingason et al. MOLECULAR PSYCHIATRY
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- Microduplications of 16p11.2 are associated with schizophrenia
- (2009) Shane E McCarthy et al. NATURE GENETICS
- Segmental copy number variation shapes tissue transcriptomes
- (2009) Charlotte N Henrichsen et al. NATURE GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- The complex relationship of gene duplication and essentiality
- (2009) Takashi Makino et al. TRENDS IN GENETICS
- Structural Variation of Chromosomes in Autism Spectrum Disorder
- (2008) Christian R. Marshall et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Early vertebrate whole genome duplications were predated by a period of intense genome rearrangement
- (2008) A. L. Hufton et al. GENOME RESEARCH
- Disruption of the neurexin 1 gene is associated with schizophrenia
- (2008) Dan Rujescu et al. HUMAN MOLECULAR GENETICS
- 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
- 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
- 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
- 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.
ExploreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now