Andrew S. McCallion

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

E Emison, Andrew S. McCallion, Carl Kashuk et al. · Nature · 2005 · 463 citations

Common Sex-dependent Mutation, Developmental Biology, Mendelian Disorder +9

Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability

E Emison, Mercè Garcia-Barceló, Elizabeth A. Grice et al. · The American Journal of Human Genetics · 2010 · 241 citations · Full text

Somatic Variant, Noncoding Ret Mutations, Mendelian Disorder +10

Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability

Qian Jiang, Stacey Arnold, Tiffany A. Heanue et al. · The American Journal of Human Genetics · 2015 · 147 citations · Full text

Molecular Biology, Functional Loss, Pathology +2

Identification of Neural Crest and Glial Enhancers at the Mouse Sox10 Locus through Transgenesis in Zebrafish

Anthony Antonellis, Jimmy Huynh, Shih-Queen Lee-Lin et al. · PLoS Genetics · 2008 · 117 citations · Full text

Glial Biology, Genetics, Mouse Sox10 Locus +24

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes

David U. Gorkin, Dongwon Lee, Xylena Reed et al. · Genome Research · 2012 · 77 citations · Full text

Engineering, Machine Learning, Genetics +16