A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

E Emison; Andrew S. McCallion; Carl Kashuk; Richard T Bush; Elizabeth A. Grice; Shin Lin; Matthew E. Portnoy; David J. Cutler; Eric D. Green; Aravinda Chakravarti

doi:10.1038/nature03467

Keywords

PenetranceGeneticsMendelian inheritanceBiologyEnhancerAlleleMutationDiseaseGeneGenetic associationIntronGenotypePhenotypeSingle-nucleotide polymorphismTranscription factorMedicineInternal medicine

Affiliated Institutions

Related Publications

Genetic Dissection of Complex Traits

Eric S. Lander , Nicholas J. Schork

Medical genetics was revolutionized during the 1980s by the application of genetic mapping to locate the genes responsible for simple Mendelian diseases. Most diseases and trait...

1994 Science 3438 citations

Genetic Mapping in Human Disease

David Altshuler , Mark J. Daly , Eric S. Lander

Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the ...

2008 Science 1447 citations

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

William J. Astle , Heather Elding , Tao Jiang +71 more

2016 Cell 1351 citations

‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?*

George Davey Smith , Shah Ebrahim

Associations between modifiable exposures and disease seen in observational epidemiology are sometimes confounded and thus misleading, despite our best efforts to improve the de...

2003 International Journal of Epidemiology 6098 citations

How important are rare variants in common disease?

Aude Saint Pierre , Emmanuelle Génin

Genome-wide association studies have uncovered hundreds of common genetic variants involved in complex diseases. However, for most complex diseases, these common genetic variant...

2014 Briefings in Functional Genomics 88 citations

Publication Info

Year: 2005
Type: article
Volume: 434
Issue: 7035
Pages: 857-863
Citations: 463
Access: Closed

External Links

View on DOI.org

Social Impact

Altmetric

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

PlumX Metrics

Social media, news, blog, policy document mentions

Citation Metrics

463

OpenAlex

Cite This

APA Style

                            
                                
                                    E Emison, 
                                
                                    Andrew S. McCallion, 
                                
                                    Carl Kashuk
                                
                                et al.
                            
                            (2005). 
                            A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. 
                            Nature
                            , 434
                            (7035)
                            , 857-863.
                            https://doi.org/10.1038/nature03467
                        

Identifiers

DOI: 10.1038/nature03467