标题
A copy number variation morbidity map of developmental delay
作者
关键词
-
出版物
NATURE GENETICS
Volume 43, Issue 9, Pages 838-846
出版商
Springer Nature
发表日期
2011-08-15
DOI
10.1038/ng.909
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- (2010) David T. Miller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- An unbalanced translocation between chromosomes 2p and 6p associated with Axenfeld-Rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism
- (2010) Feng Li et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- De novo rates and selection of large copy number variation
- (2010) A. Itsara et al. GENOME RESEARCH
- Detection of clinically relevant exonic copy-number changes by array CGH
- (2010) Philip M. Boone et al. HUMAN MUTATION
- The Mouse Homeobox Gene Gbx2 Is Required for the Development of Cholinergic Interneurons in the Striatum
- (2010) L. Chen et al. JOURNAL OF NEUROSCIENCE
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
- (2010) R. G. Walters et al. NATURE
- 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
- Database resources of the National Center for Biotechnology Information
- (2010) E. W. Sayers et al. NUCLEIC ACIDS RESEARCH
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
- (2009) Andy Itsara et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
- (2009) Helen V. Firth et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
- (2009) H. C. Mefford et al. GENOME RESEARCH
- The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
- (2009) K. D. Pruitt et al. GENOME RESEARCH
- Segmental duplications mediate novel, clinically relevant chromosome rearrangements
- (2009) M. Katharine Rudd et al. HUMAN MOLECULAR GENETICS
- 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
- Large, rare chromosomal deletions associated with severe early-onset obesity
- (2009) Elena G. Bochukova et al. NATURE
- Origins and functional impact of copy number variation in the human genome
- (2009) Donald F. Conrad et al. NATURE
- 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
- Altered gene expression in the superior temporal gyrus in schizophrenia
- (2008) Nikola A Bowden et al. BMC GENOMICS
- 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
- Mapping and sequencing of structural variation from eight human genomes
- (2008) Jeffrey M. Kidd et al. NATURE
- Evolutionary toggling of the MAPT 17q21.31 inversion region
- (2008) Michael C Zody et al. NATURE GENETICS
- Systematic assessment of copy number variant detection via genome-wide SNP genotyping
- (2008) Gregory M Cooper 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
- Worldwide Human Relationships Inferred from Genome-Wide Patterns of Variation
- (2008) J. Z. Li et al. SCIENCE
- A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
- (2008) David Melzer et al. PLoS Genetics
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