• 4967 Citations
  • 29 Scopus h-Index
1994 …2020

Research output per year

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Fingerprint Dive into the research topics where Erik C Thorland is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

  • 4967 Citations
  • 29 Scopus h-Index
  • 58 Article
  • 4 Chapter
  • 3 Review article
  • 1 Comment/debate

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

Riggs, E. R., Andersen, E. F., Cherry, A. M., Kantarci, S., Kearney, H., Patel, A., Raca, G., Ritter, D. I., South, S. T., Thorland, E. C., Pineda-Alvarez, D., Aradhya, S., Martin, C. L. & on behalf of the ACMG, B. O. T. ACMG., Feb 1 2020, In : Genetics in Medicine. 22, 2, p. 245-257 13 p.

Research output: Contribution to journalArticle

Open Access
  • 13 Scopus citations

    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., 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

  • 11 Scopus citations

    RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

    Oliver, G. R., Blackburn, P. R., Ellingson, M. S., Conboy, E., Pinto e Vairo, F., Webley, M., Thorland, E., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

    Research output: Contribution to journalArticle

    Open Access
  • 2 Scopus citations

    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 others, Stavropoulos, 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

  • 6 Scopus citations

    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

  • 8 Scopus citations