Misha Angrist
Social Science Research Council(US)Duke University(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Congenital gastrointestinal and neural anomalies, Ethics in Clinical Research, BRCA gene mutations in cancer, Cancer Genomics and Diagnostics
Most-Cited Works
- → A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)(1996)298 cited
- → Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient(1996)278 cited
- → Segregation at three loci explains familial and population risk in Hirschsprung disease(2002)275 cited
- → A public resource facilitating clinical use of genomes(2012)244 cited
- → Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22(1994)243 cited
- → Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease(1995)242 cited
- → A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus