- Home
- Publications
- Publication Search
- Publication Details
Title
Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3
Authors
Keywords
-
Journal
PLoS Genetics
Volume 8, Issue 5, Pages e1002687
Publisher
Public Library of Science (PLoS)
Online
2012-05-11
DOI
10.1371/journal.pgen.1002687
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Complex interactions between genes controlling trafficking in primary cilia
- (2011) Polloneal Jymmiel R Ocbina et al. NATURE GENETICS
- Copy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
- (2011) Qian Jiang et al. PLoS One
- Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability
- (2010) Eileen Sproat Emison et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
- (2010) Erin L. Heinzen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Fine mapping of the 9q31 Hirschsprung’s disease locus
- (2010) C. S. Tang et al. HUMAN GENETICS
- Colonic transit time in mentally retarded persons
- (2010) Saskia Vande Velde et al. INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
- Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
- (2010) NATURE
- Functional impact of global rare copy number variation in autism spectrum disorders
- (2010) Dalila Pinto et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Mutation spectrum revealed by breakpoint sequencing of human germline CNVs
- (2010) Donald F Conrad et al. NATURE GENETICS
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing
- (2010) Hansoo Park et al. NATURE GENETICS
- A de novo paradigm for mental retardation
- (2010) Lisenka E L M Vissers et al. NATURE GENETICS
- ENCODE whole-genome data in the UCSC genome browser (2011 update)
- (2010) Brian J. Raney et al. NUCLEIC ACIDS RESEARCH
- Common genetic variation in Neuregulin 3 (NRG3) influences risk for schizophrenia and impacts NRG3 expression in human brain
- (2010) W.-T. Kao et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder
- (2010) Ke-Sheng Wang et al. SCHIZOPHRENIA RESEARCH
- Fine Mapping on Chromosome 10q22-q23 Implicates Neuregulin 3 in Schizophrenia
- (2009) Pei-Lung Chen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
- (2009) Amy E. Merrill et al. AMERICAN JOURNAL OF HUMAN 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
- DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III
- (2009) Nathalie Dagoneau et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Unified Approach to Genotype Imputation and Haplotype-Phase Inference for Large Data Sets of Trios and Unrelated Individuals
- (2009) Brian L. Browning et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis ofRET,ZEB2,EDN3andGDNFGenomic Rearrangements in 80 Patients with Hirschsprung Disease (Using multiplex ligation-dependent probe amplification)
- (2009) A. Serra et al. ANNALS OF HUMAN GENETICS
- A novel study of Copy Number Variations in Hirschsprung disease using the Multiple Ligation-dependent Probe Amplification (MLPA) technique
- (2009) Rocío Núñez-Torres et al. BMC Medical Genetics
- High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
- (2009) T. H. Shaikh et al. GENOME RESEARCH
- Interaction between a chromosome 10RETenhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association
- (2009) Stacey Arnold et al. HUMAN MUTATION
- Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
- (2009) M. Shinawi 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
- Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
- (2009) B. Xu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Genome-wide association study identifiesNRG1as a susceptibility locus for Hirschsprung's disease
- (2009) Maria-Mercè Garcia-Barcelo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
- (2009) J. O. Korbel et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Linear and non-linear measures indicate gastric dysmotility in patients suffering from acute schizophrenia
- (2009) Jeannine Peupelmann et al. PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
- Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
- (2008) Maricela Alarcón et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Application of metaphase HR-CGH and targeted chromosomal microarray analyses to genomic characterization of 116 patients with mental retardation and dysmorphic features
- (2008) B. Nowakowska et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Endoderm-derived Sonic hedgehog and mesoderm Hand2 expression are required for enteric nervous system development in zebrafish
- (2008) Bettina Reichenbach et al. DEVELOPMENTAL BIOLOGY
- Mapping of a Hirschsprung's disease locus in 3p21
- (2008) Maria-Mercè Garcia-Barceló et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The Role of NRG3 in Mammary Development
- (2008) Beatrice A. Howard JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
- (2008) Joshua M Korn et al. NATURE GENETICS
- Impact of whole genome amplification on analysis of copy number variants
- (2008) T. J. Pugh et al. NUCLEIC ACIDS RESEARCH
- Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
- (2008) T. Walsh et al. SCIENCE
Add your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started