id author title date pages extension mime words sentences flesch summary cache txt work_raytvj64avaibmctn6wqqajgly Aravinda Chakravarti 2013 William Allan Award: My Multifactorial Journey1 2014 8 .pdf application/pdf 7078 575 64 2McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University 1974 to pursue a PhD in human genetics at a new University of Texas Health Science Center at Houston graduate The finding of an association between a disease mutation and a specific marker, even outside a gene of interest, my group and Stan Lyonnet29 in Paris simultaneously published the mapping of a ''dominant'' form of HSCR to proximal chromosome 10q, and within a year, Stan Lyonnet30 We followed with a report on diverse loss-of-function mutations throughout the length of RET in all forms of HSCR genome-wide association studies in the genetically isolated in humans of complex genetic disease arising from two interacting enhancers that, in the wild-type, provide exquisite control over enteric nervous system development. studies of complex human diseases. An integrated map of genetic variation from 1,092 human genomes. A genetic study of Hirschsprung disease. A gene for Hirschsprung disease maps to mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. ./cache/work_raytvj64avaibmctn6wqqajgly.pdf ./txt/work_raytvj64avaibmctn6wqqajgly.txt