Carl Kashuk

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

Dan E. Arking, Arne Pfeufer, Wendy S. Post et al. · Nature Genetics · 2006 · 547 citations

Cardiac Muscle, Common Genetic Variant, Molecular Physiology +9

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

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

Minerva M. Carrasquillo, Andrew S. McCallion, Erik G. Puffenberger et al. · Nature Genetics · 2002 · 289 citations

Genome-wide Association Study, Genetic Disorder, Genetics +9

High-Throughput Variation Detection and Genotyping Using Microarrays

David J. Cutler, Michael E. Zwick, Minerva M. Carrasquillo et al. · Genome Research · 2001 · 272 citations · Full text

Genetics, Dna Microarrays, High-throughput Variation Detection +16

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