Misha Angrist

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata et al. · Nature Genetics · 1996 · 298 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

Misha Angrist, Stacey Bolk, Marc K. Halushka et al. · Nature Genetics · 1996 · 278 citations

Neurodegenerative Diseases, Mendelian Disorder, Genetic Disorder +10

Segregation at three loci explains familial and population risk in Hirschsprung disease

Stacey Gabriel, Rémi Salomon, Anna Pelet et al. · Nature Genetics · 2002 · 275 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

A public resource facilitating clinical use of genomes

Joseph V. Thakuria, Alexander Wait Zaranek, Tom Clegg et al. · Proceedings of the National Academy of Sciences · 2012 · 244 citations · Full text

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

Erik G. Puffenberger, Erick Kauffman, Stacey Bolk et al. · Human Molecular Genetics · 1994 · 243 citations