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).

Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2012
Total Cost
$498,918
Indirect Cost
Name
National Library of Medicine
Department
Type
DUNS #
City
State
Country
Zip Code
Gertz, E Michael; Chowdhury, Salim Akhter; Lee, Woei-Jyh et al. (2016) FISHtrees 3.0: Tumor Phylogenetics Using a Ploidy Probe. PLoS One 11:e0158569
Richard, Arianne C; Peters, James E; Lee, James C et al. (2016) Targeted genomic analysis reveals widespread autoimmune disease association with regulatory variants in the TNF superfamily cytokine signalling network. Genome Med 8:76
Wangsa, Darawalee; Chowdhury, Salim Akhter; Ryott, Michael et al. (2016) Phylogenetic analysis of multiple FISH markers in oral tongue squamous cell carcinoma suggests that a diverse distribution of copy number changes is associated with poor prognosis. Int J Cancer 138:98-109
Catanzaro, Daniele; Shackney, Stanley E; Schaffer, Alejandro A et al. (2016) Classifying the Progression of Ductal Carcinoma from Single-Cell Sampled Data via Integer Linear Programming: A Case Study. IEEE/ACM Trans Comput Biol Bioinform 13:643-55
Abuhatzira, Liron; Xu, Huanyu; Tahhan, Georges et al. (2015) Multiple microRNAs within the 14q32 cluster target the mRNAs of major type 1 diabetes autoantigens IA-2, IA-2β, and GAD65. FASEB J :
Lanternier, Fanny; Mahdaviani, Seyed Alireza; Barbati, Elisa et al. (2015) Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both. J Allergy Clin Immunol 135:1558-68.e2
Sei, Yoshitatsu; Zhao, Xilin; Forbes, Joanne et al. (2015) A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase. Gastroenterology 149:67-78
Fliegauf, Manfred; Bryant, Vanessa L; Frede, Natalie et al. (2015) Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency. Am J Hum Genet 97:389-403
Volk, Timo; Pannicke, Ulrich; Reisli, Ismail et al. (2015) DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency. Hum Mol Genet 24:7361-72
Engelhardt, Karin R; Gertz, Michael E; Keles, Sevgi et al. (2015) The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol 136:402-12

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