recent publications

• academic article

  • Shaw, S. H., Carrasquillo, M. M., Kashuk, C., Puffenberger, E. G., Chakravarti, A. Allele frequency distributions in pooled DNA samples: Applications to mapping complex disease genes Genome Research  1998 8:111-123  PMID:9477339
  • Puffenberger, E. G., Hosoda, K., Washington, S. S., Nakao, K., Dewit, D., Yanagisawa, M., Chakravarti, A. A missense mutation of the endothelin-b receptor gene in multigenic hirschsprungs-disease Cell  1994 79:1257-1266  DOI:10.1016/0092-8674(94)90016-7  PMID:8001158
  • Puffenberger, E. G., Kauffman, E. R., Bolk, S., Matise, T. C., Washington, S. S., Angrist, M., Weissenbach, J., Garver, K. L., Mascari, M., Ladda, R., Slaugenhaupt, S. A., Chakravarti, A. Identity-by-descent and association mapping of a recessive gene for hirschsprung disease on human-chromosome 13q22 Human Molecular Genetics  1994 3:1217-1225  PMID:7987295
  • Angrist, M., Kauffman, E., Slaugenhaupt, S. A., Matise, T. C., Puffenberger, E. G., Washington, S. S., Lipson, A., Cass, D. T., Reyna, T., Weeks, D. E., Sieber, W., Chakravarti, A. A gene for hirschsprung disease (megacolon) in the pericentromeric region of human chromosome-10 Nature Genetics  1993 4:351-356  DOI:10.1038/ng0893-351  PMID:8401581