Abstract

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).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Library of Medicine (NLM)
Type
Investigator-Initiated Intramural Research Projects (ZIA)
Project #
1ZIALM000097-11
Application #
8558109
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
11
Fiscal Year
2012
Total Cost
$498,918
Indirect Cost

  Institution

Name
National Library of Medicine
Department
Type
DUNS #
City
State
Country
Zip Code

  Publications

Wangsa, Darawalee; Braun, Rüdiger; Schiefer, Madison et al. (2018) The Evolution of Single Cell-derived Colorectal Cancer Cell Lines is Dominated by the Continued Selection of Tumor Specific Genomic Imbalances, Despite Random Chromosomal Instability. Carcinogenesis :
Oltmann, Johanna; Heselmeyer-Haddad, Kerstin; Hernandez, Leanora S et al. (2018) Aneuploidy, TP53 mutation, and amplification of MYC correlate with increased intratumor heterogeneity and poor prognosis of breast cancer patients. Genes Chromosomes Cancer 57:165-175
Rogozin, Igor B; Gertz, E Michael; Baranov, Pasha V et al. (2018) Genome-Wide Changes in Protein Translation Efficiency Are Associated with Autism. Genome Biol Evol 10:1902-1919
Schubert, Desirée; Klein, Marie-Christine; Hassdenteufel, Sarah et al. (2018) Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1). J Allergy Clin Immunol 141:1427-1438
Frey-Jakobs, Stefanie; Hartberger, Julia M; Fliegauf, Manfred et al. (2018) ZNF341 controls STAT3 expression and thereby immunocompetence. Sci Immunol 3:
Witzel, Maximilian; Petersheim, Daniel; Fan, Yanxin et al. (2017) Chromatin-remodeling factor SMARCD2 regulates transcriptional networks controlling differentiation of neutrophil granulocytes. Nat Genet 49:742-752
Schwartz, Russell; Schäffer, Alejandro A (2017) The evolution of tumour phylogenetics: principles and practice. Nat Rev Genet 18:213-229
Joehanes, Roby; Zhang, Xiaoling; Huan, Tianxiao et al. (2017) Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. Genome Biol 18:16
Jin, Yumi; Schäffer, Alejandro A; Sherry, Stephen T et al. (2017) Quickly identifying identical and closely related subjects in large databases using genotype data. PLoS One 12:e0179106
Bhosale, Priyanka G; Pandey, Manishkumar; Cristea, Simona et al. (2017) Recurring Amplification at 11q22.1-q22.2 Locus Plays an Important Role in Lymph Node Metastasis and Radioresistance in OSCC. Sci Rep 7:16051

Showing the most recent 10 out of 74 publications