Research Output per year
Research Output per year
Personal profile
Research interests
We are interested in characterizing the impact of rare genetic variation - SNPs, INDELs, CNVs, methylation differences - in pediatric cancer. We adapt the latest genomic technologies and bioinformatic algorithms to perform population-based research. From the DNA sequencing results, we will develop in vitro systems to study the functional impact of genetic variation.
Areas of Clinical Interest
Pediatric cancer, pediatric blood disorders, pediatric brain tumor, pediatric oncology, pediatrics; cancer predisposition
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Recent external collaboration on country level. Dive into details by clicking on the dots.
Research Output
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Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation
Wong, W. H., Bhatt, S., Trinkaus, K., Pusic, I., Elliott, K., Mahajan, N., Wan, F., Switzer, G. E., Confer, D. L., DiPersio, J., Pulsipher, M. A., Shah, N. N., Sees, J., Bystry, A., Blundell, J. R., Shaw, B. E. & Druley, T. E., Jan 15 2020, In : Science translational medicine. 12, 526, eaax6249.Research output: Contribution to journal › Article
5 Scopus citations -
Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring
Crowgey, E. L., Mahajan, N., Wong, W. H., Gopalakrishnapillai, A., Barwe, S. P., Kolb, E. A. & Druley, T. E., Mar 4 2020, In : BMC Medical Genomics. 13, 1, 32.Research output: Contribution to journal › Article
Open Access1 Scopus citations -
Germline sequencing identifies rare variants in finnish subjects with familial germ cell tumors
Crowgey, E. L., Soini, T., Shah, N., Pauniaho, S. L., Lahdenne, P., Wilson, D. B., Heikinheimo, M. & Druley, T. E., 2020, In : Application of Clinical Genetics. 13, p. 127-137 11 p.Research output: Contribution to journal › Article
Open Access -
Prevalence of clinically actionable disease variants in exceptionally long-lived families
Carlson, P., Wojczynski, M. K., Druley, T., Lee, J. H., Zmuda, J. M. & Thyagarajan, B., Apr 10 2020, In : BMC Medical Genomics. 13, 1, 61.Research output: Contribution to journal › Article
Open Access -
Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples
Barwe, S. P., Gopalakrisnapillai, A., Mahajan, N., Druley, T. E., Kolb, E. A. & Crowgey, E. L., Mar 2020, In : Genomics and Informatics. 18, 1, e6.Research output: Contribution to journal › Article
Open Access