• 5089 Citations
  • 29 Scopus h-Index
1994 …2020

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Article
2020

Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 among Children with Exertion-Related Unexplained Sudden Deaths in the Amish Community

Tester, D. J., Bombei, H. M., Fitzgerald, K. K., Giudicessi, J. R., Pitel, B. A., Thorland, E. C., Russell, B. G., Hamrick, S. K., Kim, C. S. J., Haglund-Turnquist, C. M., Johnsrude, C. L., Atkins, D. L., Ochoa Nunez, L. A., Law, I., Temple, J. & Ackerman, M. J., Mar 2020, In : JAMA cardiology. 5, 3, p. 340-345 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

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
23 Scopus citations
2019

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. B., 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
2018

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 2018, In : Human mutation. 39, 11, p. 1650-1659 10 p.

Research output: Contribution to journalArticle

8 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

9 Scopus citations

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

5 Scopus citations

Recurrent Genomic Alterations in Soft Tissue Perineuriomas

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

Research output: Contribution to journalArticle

2 Scopus citations
2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M. A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M. A., Antolik, C., Anyane-Yeboa, K., Atkin, J. F. & 129 others, Bartell, T., Bernstein, J. A., Beyer, E., Blumenthal, I., Bongers, E. M. H. F., Brilstra, E. H., Brown, C. W., Brüggenwirth, H. T., Callewaert, B., Chiang, C., Corning, K., Cox, H., Cuppen, E., Currall, B. B., Cushing, T., David, D., Deardorff, M. A., Dheedene, A., D'Hooghe, M., De Vries, B. B. A., Earl, D. L., Ferguson, H. L., Fisher, H., FitzPatrick, D. R., Gerrol, P., Giachino, D., Glessner, J. T., Gliem, T., Grady, M., Graham, B. H., Griffis, C., Gripp, K. W., Gropman, A. L., Hanson-Kahn, A., Harris, D. J., Hayden, M. A., Hill, R., Hochstenbach, R., Hoffman, J. D., Hopkin, R. J., Hubshman, M. W., Innes, A. M., Irons, M., Irving, M., Jacobsen, J. C., Janssens, S., Jewett, T., Johnson, J. P., Jongmans, M. C., Kahler, S. G., Koolen, D. A., Korzelius, J., Kroisel, P. M., Lacassie, Y., Lawless, W., Lemyre, E., Leppig, K., Levin, A. V., Li, H., Li, H., Liao, E. C., Lim, C., Lose, E. J., Lucente, D., MacEra, M. J., Manavalan, P., Mandrile, G., Marcelis, C. L., Margolin, L., Mason, T., Masser-Frye, D., McClellan, M. W., Zepeda Mendoza, C. J., Menten, B., Middelkamp, S., Mikami, L. R., Moe, E., Mohammed, S., Mononen, T., Mortenson, M. E., Moya, G., Nieuwint, A. W., Ordulu, Z., Parkash, S., Pauker, S. P., Pereira, S., Perrin, D., Phelan, K., Piña Aguilar, R. E., Poddighe, P. J., Pregno, G., Raskin, S., Reis, L., Rhead, W., Rita, D., Renkens, I., Roelens, F., Ruliera, J., Rump, P., Schilit, S. L. P., Shaheen, R., Sparkes, R., Spiegel, E., Stevens, B., Stone, M. R., Tagoe, J., Thakuria, J. V., Van Bon, B. W., Van De Kamp, J., Van Der Burgt, I., Van Essen, T., Van Ravenswaaij-Arts, C. M., Van Roosmalen, M. J., Vergult, S., Volker-Touw, C. M. L., Warburton, D. P., Waterman, M. J., Wiley, S., Wilson, A., Yerena-De Vega, M. D. L. C. A., Zori, R. T., Levy, B., Brunner, H. G., De Leeuw, N., Kloosterman, W. P., Thorland, E. C., Morton, C. C., Gusella, J. F. & Talkowski, M. E., Jan 1 2017, In : Nature Genetics. 49, 1, p. 36-45 10 p.

Research output: Contribution to journalArticle

92 Scopus citations
2016

Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability

Pfundt, R., Kwiatkowski, K., Roter, A., Shukla, A., Thorland, E. C., Hockett, R., Dupont, B., Fung, E. T. & Chaubey, A., Feb 1 2016, In : Genetics in Medicine. 18, 2, p. 168-173 6 p.

Research output: Contribution to journalArticle

4 Scopus citations

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Uddin, M., Pellecchia, G., Thiruvahindrapuram, B., D'Abate, L., Merico, D., Chan, A., Zarrei, M., Tammimies, K., Walker, S., Gazzellone, M. J., Nalpathamkalam, T., Yuen, R. K. C., Devriendt, K., Mathonnet, G., Lemyre, E., Nizard, S., Shago, M., Joseph-George, A. M., Noor, A., Carter, M. T. & 9 others, Yoon, G., Kannu, P., Tihy, F., Thorland, E. C., Marshall, C. R., Buchanan, J. A., Speevak, M., Stavropoulos, D. J. & Scherer, S. W., Jul 1 2016, In : Scientific reports. 6, 28663.

Research output: Contribution to journalArticle

18 Scopus citations

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Lazaridis, K. N., Schahl, K. A., Cousin, M. A., Babovic-Vuksanovic, D., Riegert-Johnson, D. L., Gavrilova, R. H., McAllister, T. M., Lindor, N. M., Abraham, R. S., Ackerman, M. J., Pichurin, P. N., Deyle, D. R., Gavrilov, D. K., Hand, J. L., Klee, E. W., Stephens, M. C., Wick, M. J., Atkinson, E. J., Linden, D. R., Ferber, M. J. & 19 others, Wieben, E. D., Farrugia, G., Baudhuin, L. M., Beck, S. A., Beek, G. J., Go, R. S., Guthrie, K. J., Hovan, M. J., Hunt, K. S., Kemppainen, J. L., Kruisselbrink, T. M., McCormick, J. B., McLaughlin, B. M., Murphree, M. I., Niewold, T. B., Oglesbee, D., Reed, A., Thibodeau, S. N. & Thorland, E. C., Mar 1 2016, In : Mayo Clinic Proceedings. 91, 3, p. 297-307 11 p.

Research output: Contribution to journalArticle

58 Scopus citations

Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features

Aypar, U., Hoppman, N. L., Thorland, E. C. & Dawson, D. B., Mar 22 2016, In : Molecular Cytogenetics. 9, 1, 233.

Research output: Contribution to journalArticle

1 Scopus citations

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

Cuturilo, G., Hodge, J. C., Runke, C. K., Thorland, E. C., Al-Owain, M. A., Ellison, J. W. & Babovic-Vuksanovic, D., Jan 1 2016, In : Clinical Genetics. 89, 1, p. 109-114 6 p.

Research output: Contribution to journalArticle

8 Scopus citations

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

Wang, W., Wang, C., Brian Dawson, D., Thorland, E. C., Lundquist, P. A., Eckloff, B. W., Wu, Y., Baheti, S., Evans, J. M., Scherer, S. S., Dyck, P. J. B. & Klein, C. J., May 10 2016, In : Neurology. 86, 19, p. 1762-1771 10 p.

Research output: Contribution to journalArticle

27 Scopus citations
2015

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2

Lyon, S. M., Waggoner, D., Halbach, S., Thorland, E. C., Khorasani, L. & Reid, R. R., Dec 1 2015, In : Genes and Diseases. 2, 4, p. 347-352 6 p.

Research output: Contribution to journalArticle

3 Scopus citations
2014

Chromosomal microarray impacts clinical management

Riggs, E. R., Wain, K. E., Riethmaier, D., Smith-Packard, B., Faucett, W. A., Hoppman, N., Thorland, E. C., Patel, V. C. & Miller, D. T., Feb 1 2014, In : Clinical Genetics. 85, 2, p. 147-153 7 p.

Research output: Contribution to journalArticle

45 Scopus citations

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the prader-willi/angelman syndrome critical region

Aypar, U., Brodersen, P. R., Lundquist, P. A., Brian Dawson, D., Thorland, E. C. & Hoppman, N., Jan 1 2014, In : American Journal of Medical Genetics, Part A. 164, 10, p. 2514-2520 7 p.

Research output: Contribution to journalArticle

3 Scopus citations

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum

Dhamija, R., Graham, J. M., Smaoui, N., Thorland, E. & Kirmani, S., Mar 2014, In : European Journal of Medical Genetics. 57, 4, p. 181-184 4 p.

Research output: Contribution to journalArticle

11 Scopus citations
2013

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Goldlust, I. S., Hermetz, K. E., Catalano, L. M., Barfield, R. T., Cozad, R., Wynn, G., Ozdemir, A. C., Conneely, K. N., Mulle, J. G., Dharamrup, S., Hegde, M. R., Kim, K. H., Angle, B., Colley, A., Webb, A. E., Thorland, E. C., Ellison, J. W., Rosenfeld, J. A., Ballif, B. C., Shaffer, L. G. & 4 others, Demmer, L. A., Searle, B. A., Wynn, S. L. & Rudd, M. K., Sep 10 2013, In : Proceedings of the National Academy of Sciences of the United States of America. 110, 37, p. 14990-14994 5 p.

Research output: Contribution to journalArticle

24 Scopus citations

Prenatal diagnosis of chromosome abnormalities: past, present, and future.

Aypar, U., Thorland, E. C. & Hoppman, N., Oct 2013, In : Clinical chemistry. 59, 10, p. 1432-1434 3 p.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

The genomic landscape of small intestine neuroendocrine tumors

Banck, M. S., Kanwar, R., Kulkarni, A. A., Boora, G. K., Metge, F., Kipp, B. R., Zhang, L., Thorland, E. C., Minn, K. T., Tentu, R., Eckloff, B. W., Wieben, E. D., Wu, Y., Cunningham, J. M., Nagorney, D. M., Gilbert, J. A., Ames, M. M. & Beutler, A. S., Jun 3 2013, In : Journal of Clinical Investigation. 123, 6, p. 2502-2508 7 p.

Research output: Contribution to journalArticle

158 Scopus citations
2012

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

Descipio, C., Conlin, L., Rosenfeld, J., Tepperberg, J., Pasion, R., Patel, A., McDonald, M. T., Aradhya, S., Ho, D., Goldstein, J., McGuire, M., Mulchandani, S., Medne, L., Rupps, R., Serrano, A. H., Thorland, E. C., Tsai, A. C. H., Hilhorst-Hofstee, Y., Ruivenkamp, C. A. L., Van Esch, H. & 6 others, Addor, M. C., Martinet, D., Mason, T. B. A., Clark, D., Spinner, N. B. & Krantz, I. D., Sep 2012, In : American Journal of Medical Genetics, Part A. 158 A, 9, p. 2152-2161 10 p.

Research output: Contribution to journalArticle

22 Scopus citations
2011

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

Kearney, H. M., Thorland, E. C., Brown, K. K., Quintero-Rivera, F. & South, S. T., Jul 1 2011, In : Genetics in Medicine. 13, 7, p. 680-685 6 p.

Research output: Contribution to journalArticle

469 Scopus citations

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., Fuller, A. E., Gliem, T. J., Huang, S., Collinson, M. N., Beal, S. J., Ackley, T., Pickering, D. L., Golden, D. M. & 14 others, Aston, E., Whitby, H., Shetty, S., Rossi, M. R., Rudd, M. K., South, S. T., Brothman, A. R., Sanger, W. G., Iyer, R. K., Crolla, J. A., Thorland, E. C., Aradhya, S., Ledbetter, D. H. & Martin, C. L., Sep 2011, In : Genetics in Medicine. 13, 9, p. 777-784 8 p.

Research output: Contribution to journalArticle

272 Scopus citations
43 Scopus citations
2010

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., Faucett, W. A., Feuk, L., Friedman, J. M., Hamosh, A., Jackson, L., Kaminsky, E. B., Kok, K., Krantz, I. D., Kuhn, R. M., Lee, C. & 12 others, Ostell, J. M., Rosenberg, C., Scherer, S. W., Spinner, N. B., Stavropoulos, D. J., Tepperberg, J. H., Thorland, E. C., Vermeesch, J. R., Waggoner, D. J., Watson, M. S., Martin, C. L. & Ledbetter, D. H., May 14 2010, In : American journal of human genetics. 86, 5, p. 749-764 16 p.

Research output: Contribution to journalArticle

1535 Scopus citations

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., Guy, L., Care, M. E., Morel, C. F., Boni, C., Salbert, B. A., Chandrareddy, A., Demmer, L. A., Chow, E. W. C., Surti, U., Aradhya, S. & 15 others, Pickering, D. L., Golden, D. M., Sanger, W. G., Aston, E., Brothman, A. R., Gliem, T. J., Thorland, E. C., Ackley, T., Iyer, R., Huang, S., Barber, J. C., Crolla, J. A., Warren, S. T., Martin, C. L. & Ledbetter, D. H., Nov 12 2010, In : American journal of human genetics. 87, 5, p. 618-630 13 p.

Research output: Contribution to journalArticle

205 Scopus citations

Hodgkin lymphoma in a young child contributing to a diagnosis of ataxia telangiectasia: Review of the literature

Hummel, J. M., Thorland, E. C. & Lim, M. S., Jun 16 2010, In : Journal of Hematopathology. 3, 2, p. 69-76 8 p.

Research output: Contribution to journalArticle

Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: Expansion of phenotype

Babovic, N., Simmons, P. S., Moir, C., Thorland, E. C., Scheithauer, B., Gliem, T. J. & Babovic-vuksanovic, D., Oct 1 2010, In : American Journal of Medical Genetics, Part A. 152 A, 10, p. 2623-2627 5 p.

Research output: Contribution to journalArticle

8 Scopus citations
2009

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A. & Eichler, E. E., Sep 2009, In : Genome Research. 19, 9, p. 1579-1585 7 p.

Research output: Contribution to journalArticle

101 Scopus citations

Fluorescence in situ hybridization to visualize genetic abnormalities in interphase cells of acinar cell carcinoma, ductal adenocarcinoma, and islet cell carcinoma of the pancreas

Dewald, G. W., Smyrk, T. C., Thorland, E. C., McWilliams, R. R., Van Dyke, D. L., Keefe, J. G., Belongie, K. J., Smoley, S. A., Knutson, D. L., Fink, S. R., Wiktor, A. E. & Petersen, G. M., Sep 2009, In : Mayo Clinic proceedings. 84, 9, p. 801-810 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

Infiltrative T regulatory cells in enucleated uveal melanomas

Lagouros, E., Salomao, D., Thorland, E., Hodge, D. O., Vile, R. & Pulido, J. S., Dec 1 2009, In : Transactions of the American Ophthalmological Society. 107, p. 223-228 6 p.

Research output: Contribution to journalArticle

22 Scopus citations

Oligonucleotide array CGH studies in myeloproliferative neoplasms: Comparison with JAK2V617F mutational status and conventional chromosome analysis

Tefferi, A., Sirhan, S., Sun, Y., Lasho, T., Finke, C. M., Weisberger, J., Bale, S., Compton, J., LeDuc, C. A., Pardanani, A., Thorland, E. C., Shevchenko, Y., Grodman, M. & Chung, W. K., May 1 2009, In : Leukemia Research. 33, 5, p. 662-664 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

Tsuchiya, K. D., Shaffer, L. G., Aradhya, S., Gastier-Foster, J. M., Patel, A., Rudd, M. K., Biggerstaff, J. S., Sanger, W. G., Schwartz, S., Tepperberg, J. H., Thorland, E. C., Torchia, B. A. & Brothman, A. R., Dec 1 2009, In : Genetics in Medicine. 11, 12, p. 866-873 8 p.

Research output: Contribution to journalArticle

41 Scopus citations
2008

Incidence of TCR and TCL1 gene translocations and isochromosome 7q in peripheral T-cell lymphomas using fluorescence in situ hybridization

Feldman, A. L., Law, M., Grogg, K. L., Thorland, E. C., Fink, S., Kurtin, P. J., Macon, W. R., Remstein, E. D. & Dogan, A., Aug 2008, In : American journal of clinical pathology. 130, 2, p. 178-185 8 p.

Research output: Contribution to journalArticle

32 Scopus citations

Malignant melanoma in the 21st century: The emerging molecular landscape

Sekulic, A., Haluska, P., Miller, A. J., De Lamo, J. G., Ejadi, S., Pulido, J. S., Salomao, D. R., Thorland, E. C., Vile, R. G., Swanson, D. L., Pockaj, B. A., Laman, S. D., Pittelkow, M. R. & Markovic, S. N., Jul 2008, In : Mayo Clinic proceedings. 83, 7, p. 825-846 22 p.

Research output: Contribution to journalArticle

94 Scopus citations

Overexpression of Syk tyrosine kinase in peripheral T-cell lymphomas

Feldman, A. L., Sun, D. X., Law, M. E., Novak, A. J., Attygalle, A. D., Thorland, E. C., Fink, S. R., Vrana, J. A., Caron, B. L., Morice, W. G., Remstein, E. D., Grogg, K. L., Kurtin, P. J., Macon, W. R. & Dogan, A. M., Jun 2008, In : Leukemia. 22, 6, p. 1139-1143 5 p.

Research output: Contribution to journalArticle

107 Scopus citations
2007

Comprehensive validation of array comparative genomic hybridization platforms: How much is enough?

Thorland, E. C., Gonzales, P. R., Gliem, T. J., Wiktor, A. E. & Ketterling, R. P., Sep 1 2007, In : Genetics in Medicine. 9, 9, p. 632-641 10 p.

Research output: Contribution to journalArticle

9 Scopus citations

Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies

Shearer, B. M., Thorland, E. C., Gonzales, P. R. & Ketterling, R. P., Oct 15 2007, In : American Journal of Medical Genetics, Part A. 143, 20, p. 2357-2370 14 p.

Research output: Contribution to journalArticle

13 Scopus citations
2006

A multiplex assay for the detection and mapping of complex glycerol kinase deficiency

Klein, R. D., Thorland, E. C., Gonzales, P. R., Beck, P. A., Dykas, D. J., McGrath, J. M. & Bale, A. E., Oct 2006, In : Clinical chemistry. 52, 10, p. 1864-1870 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

Eklund, E. A., Sun, L., Yang, S. P., Pasion, R. M., Thorland, E. C. & Freeze, H. H., Jan 20 2006, In : Biochemical and Biophysical Research Communications. 339, 3, p. 755-760 6 p.

Research output: Contribution to journalArticle

11 Scopus citations

Loss of TP53 is due to rearrangements involving chromosome region 17p10∼p12 in chronic lymphocytic leukemia

Fink, S. R., Smoley, S. A., Stockero, K. J., Paternoster, S. F., Thorland, E. C., Van Dyke, D. L., Shanafelt, T. D., Zent, C. S., Call, T. G., Kay, N. E. & Dewald, G. W., Jun 1 2006, In : Cancer Genetics and Cytogenetics. 167, 2, p. 177-181 5 p.

Research output: Contribution to journalArticle

29 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
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

186 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

155 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

254 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

129 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

71 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