Concepedia

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

Nature · 2005 · 466 citations · 39 references

DOI

Concepts

References

39

A New Statistical Method for Haplotype Reconstruction from Population Data

Matthew Stephens, Nicholas Smith, Peter Donnelly · The American Journal of Human Genetics · 2001 · 7.5K citations · Full text

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Initial sequencing and comparative analysis of the mouse genome

Nature · 2002 · 7.2K citations · Full text

, , +14

The metabolic and molecular bases of inherited disease

Ying-Tsong Chen · Medical Entomology and Zoology · 2001 · 6.9K citations

, , +14

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

Richard S. Spielman, Ralph McGinnis, Warren J. Ewens · PubMed · 1993 · 3.7K citations

, , +15

Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene

Michel Samson, Frédérick Libert, Benjamin J. Doranz et al. · Nature · 1996 · 2.9K citations

, , +11