• 5180 Citations
  • 29 Scopus h-Index
1994 …2020

Research output per year

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Research Output

2006

Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature review

Zon, Y. S., Van Dyke, D. L., Thorland, E. C., Chhabra, H. S., Michels, V. V., Keefe, J. G., Lega, M. A., Feely, M. A., Uphoff, T. S. & Jalal, S. M., Aug 1 2006, In : American Journal of Medical Genetics, Part A. 140, 15, p. 1696-1706 11 p.

Research output: Contribution to journalReview article

34 Scopus citations

Preclinical validation of fluorescence in situ hybridization assays for clinical practice

Wiktor, A. E., Van Dyke, D. L., Stupca, P. J., Ketterling, R. P., Thorland, E. C., Shearer, B. M., Fink, S. R., Stockero, K. J., Majorowicz, J. R. & Dewald, G. W., Jan 1 2006, In : Genetics in Medicine. 8, 1, p. 16-23 8 p.

Research output: Contribution to journalArticle

73 Scopus citations

Test Samples and Laboratory Protocols

Adams, S. A., Van Dyke, D. L., Ketterling, R. P., Thorland, E. C., Caulfield, T., Sheremeta, L., Gold, E. R., Merz, J. F. & Castle, D., Jan 4 2006, Genetic Testing: Care, Consent, and Liability. John Wiley & Sons, Inc., p. 292-339 48 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2005

Mendelian and Mitochondrial Inheritance, Gene Identification, and Clinical Testing

Michels, V. V., Thibodeau, S. N. & Thorland, E. C., Dec 1 2005, Peripheral Neuropathy. Elsevier Inc., Vol. 2. p. 1545-1560 16 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

2003

Common fragile sites are preferential targets for HPV16 integrations in cervical tumors

Thorland, E. C., Myers, S. L., Gostout, B. S. & Smith, D. I., Feb 27 2003, In : Oncogene. 22, 8, p. 1225-1237 13 p.

Research output: Contribution to journalArticle

189 Scopus citations

Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers

Ferber, M. J., Montoya, D. P., Yu, C., Aderca, I., McGee, A., Thorland, E. C., Nagorney, D. M., Gostout, B. S., Burgart, L. J., Boix, L., Bruix, J., McMahon, B. J., Cheung, T. H., Chung, T. K. H., Wong, Y. F., Smith, D. I. & Roberts, L. R., Jun 12 2003, In : Oncogene. 22, 24, p. 3813-3820 8 p.

Research output: Contribution to journalArticle

156 Scopus citations

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

Ensenauer, R. E., Adeyinka, A., Flynn, H. C., Michels, V. V., Lindor, N. M., Dawson, D. B., Thorland, E. C., Lorentz, C. P., Goldstein, J. L., McDonald, M. T., Smith, W. E., Simon-Fayard, E., Alexander, A. A., Kulharya, A. S., Ketterling, R. P., Clark, R. D. & Jalal, S. M., Nov 2003, In : American journal of human genetics. 73, 5, p. 1027-1040 14 p.

Research output: Contribution to journalArticle

256 Scopus citations

Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma

Ferber, M. J., Thorland, E. C., Brink, A. A. T. P., Rapp, A. K., Phillips, L. A., McGovern, R., Gostout, B. S., Cheung, T. H., Chung, T. K. H., Fu, W. Y. & Smith, D. I., Oct 16 2003, In : Oncogene. 22, 46, p. 7233-7242 10 p.

Research output: Contribution to journalArticle

130 Scopus citations
2002

Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors

Morelli, C., Karayianni, E., Magnanini, C., Mungall, A. J., Thorland, E., Negrini, M., Smith, D. I. & Barbanti-Brodano, G., Jan 1 2002, In : Oncogene. 21, 47, p. 7266-7276 11 p.

Research output: Contribution to journalArticle

72 Scopus citations

Evidence that instability within the FRA3B region extends four megabases

Becker, N. A., Thorland, E. C., Denison, S. R., Phillips, L. A. & Smith, D. I., Dec 12 2002, In : Oncogene. 21, 57, p. 8713-8722 10 p.

Research output: Contribution to journalArticle

56 Scopus citations
2000

Human papillomavirus type 16 integrations in cervical tumors frequently occur in common fragile sites

Thorland, E. C., Myers, S. L., Persing, D. H., Sarkar, G., McGovern, R. M., Gostout, B. S. & Smith, D. I., Nov 1 2000, In : Cancer research. 60, 21, p. 5916-5921 6 p.

Research output: Contribution to journalArticle

155 Scopus citations

The human factor IX gene as germline mutagen test: Samples from Mainland China have the putatively endogenous pattern of mutation

Liu, J. Z., Li, X., Drost, J., Thorland, E. C., Liu, Q., Lind, T., Roberts, S., Wang, H. Y. & Sommer, S. S., Jul 22 2000, In : Human mutation. 16, 1, p. 31-36 6 p.

Research output: Contribution to journalArticle

14 Scopus citations
1999

Anaphylactic response to factor IX replacement therapy in haemophilia B patients: Complete gene deletions confer the highest risk

Thorland, E. C., Drost, J. B., Lusher, J. M., Warrier, I., Shapiro, A., Koerper, M. A., Dimichele, D., Westman, J., Key, N. S. & Sommer, S. S., Apr 27 1999, In : Haemophilia. 5, 2, p. 101-105 5 p.

Research output: Contribution to journalArticle

82 Scopus citations
1998

Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern

Heit, J. A., Thorland, E. C., Ketterling, R. P., Lind, T. J., Daniels, T. M., Zapata, R. E., Ordonez, S. M., Kasper, C. K. & Sommer, S. S., Jan 1 1998, In : Human mutation. 11, 5, p. 372-376 5 p.

Research output: Contribution to journalArticle

11 Scopus citations
1997

Inhibition of PCR amplification by a point mutation downstream of a primer

Liu, Q., Thorland, E. C. & Sommer, S. S., Feb 1997, In : BioTechniques. 22, 2, p. 292-300 9 p.

Research output: Contribution to journalArticle

Open Access
36 Scopus citations

Overlapping PCR for bidirectional PCR amplification of specific alleles: A rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes

Liu, Q., Thorland, E. C., Heit, J. A. & Sommer, S. S., Apr 1997, In : Genome Research. 7, 4, p. 389-398 10 p.

Research output: Contribution to journalArticle

Open Access
139 Scopus citations
1996

Genomic amplification with transcript sequencing (GAWTS).

Lind, T., Thorland, E. C. & Sommer, S. S., 1996, In : Methods in molecular biology (Clifton, N.J.). 65, p. 193-200 8 p.

Research output: Contribution to journalArticle

1 Scopus citations
1995

Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: Pattern of mutation and potential founder effects

Thorland, E. C., Weinshenker, B. G., Liu, J. Z., Ketterling, R. P., Vielhaber, E. L., Kasper, C. K., Ambriz, R., Paredes, R. & Sommer, S. S., 1995, In : Thrombosis and Haemostasis. 74, 6, p. 1416-1422 7 p.

Research output: Contribution to journalArticle

16 Scopus citations
1994

The rates and patterns of deletions in the human factor IX gene

Ketterling, R. P., Vielhaber, E. L., Lind, T. J., Thorland, E. C. & Sommer, S. S., Feb 1 1994, In : American journal of human genetics. 54, 2, p. 201-213 13 p.

Research output: Contribution to journalArticle

36 Scopus citations