• 4763 Citations
  • 29 Scopus h-Index
19942019
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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.

  • 8 Similar Profiles
Genes Medicine & Life Sciences
Factor IX Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cytogenetics Medicine & Life Sciences
Fluorescence In Situ Hybridization Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Comparative Genomic Hybridization Medicine & Life Sciences

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Research Output 1994 2019

  • 4763 Citations
  • 29 Scopus h-Index
  • 62 Article
  • 4 Chapter
9 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., 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
Cytogenetics
Hematologic Neoplasms
Fluorescence In Situ Hybridization
Molecular Biology
1 Citation (Scopus)

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. C., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journalArticle

Open Access
Multiple Hereditary Exostoses
RNA
Comparative Genomic Hybridization
Exome
Multiplex Polymerase Chain Reaction
1 Citation (Scopus)

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., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Genomics
Consensus
Joints
Genome
Technology
2 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 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

Haploinsufficiency
Gene Dosage
Genome
Public Sector
Negotiating
6 Citations (Scopus)

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
Genes
Exome
Head Protective Devices