Erik C Thorland, PhD

Assistant Professor

  • 4338 Citations
  • 28 h-Index
If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Fingerprint is based on mining the text of the experts' scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 Similar Profiles
Genes Medicine & Life Sciences
Factor IX Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Mutation Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1994 2019

  • 4338 Citations
  • 28 h-Index
  • 60 Article
  • 4 Chapter
1 Citations (Scopus)

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia

Aypar, U., Smoley, S. A., Pitel, B. A., Pearce, K. E., Zenka, R. M., Vasmatzis, G., Johnson, S. H., Smadbeck, J. B., Peterson, J. F., Geiersbach, K. B., Van Dyke, D. L., Thorland, E. C., Jenkins, R. B., Ketterling, R. P., Greipp, P. T., Kearney, H. M., Hoppman, N. L. & Baughn, L., Jan 1 2019, In : European Journal of Haematology. 102, 1, p. 87-96 10 p.

Research output: Contribution to journalArticle

Acute Myeloid Leukemia
Hematologic Neoplasms
Fluorescence In Situ Hybridization
Molecular Biology
1 Citations (Scopus)

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Riggs, E. R., Nelson, T., Merz, A., Ackley, T., Bunke, B., Collins, C. D., Collinson, M. N., Fan, Y. S., Goodenberger, M. L., Golden, D. M., Haglund-Hazy, L., Krgovic, D., Lamb, A. N., Lewis, Z., Li, G., Liu, Y., Meck, J., Neufeld-Kaiser, W., Runke, C. K., Sanmann, J. N. & 8 othersStavropoulos, D. J., Strong, E., Su, M., Tayeh, M. K., Kokalj Vokac, N., Thorland, E. C., Andersen, E. & Martin, C. L., Nov 1 2018, In : Human Mutation. 39, 11, p. 1650-1659 10 p.

Research output: Contribution to journalArticle

Gene Dosage
Public Sector

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2)

Boczek, N. J., Lahner, C. A., Nguyen, T. M., Ferber, M. J., Hasadsri, L., Thorland, E. C., Niu, Z. & Gavrilova, R. M., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Wolf-Hirschhorn Syndrome
Failure to Thrive
Head Protective Devices

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays

Hoppman, N., Rumilla, K., Lauer, E., Kearney, H. & Thorland, E. C., Dec 1 2018, In : Genetics in Medicine. 20, 12, p. 1522-1527 6 p.

Research output: Contribution to journalArticle

Uniparental Disomy
Single Nucleotide Polymorphism

Recurrent Genomic Alterations in Soft Tissue Perineuriomas

Carter, J., Wu, Y., Blessing, M. M., Folpe, A. L., Thorland, E. C., Spinner, R. J., Jentoft, M. E., Wang, C., Baheti, S., Niu, Z., Mauermann, M. M. & Klein, C. J., Dec 1 2018, In : American Journal of Surgical Pathology. 42, 12, p. 1708-1714 7 p.

Research output: Contribution to journalArticle

Nerve Sheath Neoplasms
Chromosome Aberrations
Single Nucleotide Polymorphism