During my career I have worked on several projects creating software (FASTLINK, CASPAR, rh_tsp_map, PedHunter, etc.) and a database (Anabaptist Genealogy database) for genetic studies. My association with this software and a past track record of effective collaboration with wet lab scientists leads to more such collaborations. Two highlights from my publications of the past year are: -- characterization of the first human patients known to have the rare human disease STK4 deficiency, which was publish in Blood; -- characterization of the first patients known to have the rare human disease LRBA deficiency, which was published in American Journal of Human Genetics; The work on STK4 was done in collaboration with Christoph Klein (Munich, Germany). The work on LRBA was done in collaboration with Bodo Grimbacher (Freiburg, Germany) and Lennart Hammarstrom (Huddinge, Sweden).
NIH ExPorter
NIH ExPorter