• 4619 Citations
  • 29 Scopus h-Index
19942019
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Research Output 1994 2019

  • 4619 Citations
  • 29 Scopus h-Index
  • 61 Article
  • 4 Chapter
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Article
2019
5 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
2018
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
4 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
1 Citation (Scopus)

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
Chromosomes
Population
1 Citation (Scopus)

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
Exome
Chromosome Aberrations
Mutation
Single Nucleotide Polymorphism
2017
65 Citations (Scopus)

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

Chromosome Aberrations
Cytogenetics
Karyotyping
Karyotype
Nucleotides
2016
3 Citations (Scopus)

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

Intellectual Disability
Patient Care
Developmental Disabilities
Ethnic Groups
Health
15 Citations (Scopus)

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

Exons
Genes
Gene Expression
Gene Dosage
Genomics
49 Citations (Scopus)

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. M., 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

Exome
Precision Medicine
Inborn Genetic Diseases
Insurance Coverage
Medicaid
1 Citation (Scopus)

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

Angelman Syndrome
Prader-Willi Syndrome
Methylation
Phenotype
Chromosomes
20 Citations (Scopus)

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

Polyneuropathies
Age of Onset
Mutation
Cost Savings
Neural Conduction
2015
6 Citations (Scopus)

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., 2015, (Accepted/In press) In : Clinical Genetics.

Research output: Contribution to journalArticle

Phenotype
Genetic Testing
Intellectual Disability
Mutation
Growth
2 Citations (Scopus)

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

Craniosynostoses
Chromosomes
Genes
Craniofacial Abnormalities
Cranial Sutures
2014
43 Citations (Scopus)

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 2014, In : Clinical Genetics. 85, 2, p. 147-153 7 p.

Research output: Contribution to journalArticle

Microarray Analysis
Insurance Coverage
Genetic Services
Haploinsufficiency
Developmental Disabilities
3 Citations (Scopus)

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., 2014, In : American Journal of Medical Genetics, Part A. 164, 10, p. 2514-2520 7 p.

Research output: Contribution to journalArticle

Angelman Syndrome
Prader-Willi Syndrome
Methylation
Mothers
Chromosomes, Human, Pair 15
10 Citations (Scopus)

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. C. & Kirmani, S., 2014, In : European Journal of Medical Genetics. 57, 4, p. 181-184 4 p.

Research output: Contribution to journalArticle

Agenesis of Corpus Callosum
Microcephaly
Mutation
Osteonectin
Genes
2013
5 Citations (Scopus)

Experimental designs for array comparative genomic hybridization technology

McDonnell, S. K., Riska, S. M., Klee, E. W., Thorland, E. C., Kay, N. E., Thibodeau, S. N., Parker, A. & Eckel-Passow, J. E., May 2013, In : Cytogenetic and Genome Research. 139, 4, p. 250-257 8 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Research Design
Technology
Genome
22 Citations (Scopus)

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

Pediatric Obesity
Obesity
GTP-Binding Proteins
Intellectual Disability
Megalencephaly
1 Citation (Scopus)

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

Chromosome Disorders
Stillbirth
Genetic Testing
Human Chromosomes
Oligonucleotide Array Sequence Analysis
133 Citations (Scopus)

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

Neuroendocrine Tumors
Small Intestine
Nucleotides
Phosphatidylinositol 3-Kinases
Aurora Kinase A
2012
19 Citations (Scopus)

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

Chromosome Deletion
Cytogenetics
Genetic Databases
Genes
Language Development Disorders
53 Citations (Scopus)

Towards an evidence-based process for the clinical interpretation of copy number variation

Riggs, E. R., Church, D. M., Hanson, K., Horner, V. L., Kaminsky, E. B., Kuhn, R. M., Wain, K. E., Williams, E. S., Aradhya, S., Kearney, H. M., Ledbetter, D. H., South, S. T., Thorland, E. C. & Martin, C. L., May 2012, In : Clinical Genetics. 81, 5, p. 403-412 10 p.

Research output: Contribution to journalArticle

Genome
Databases
Inheritance Patterns
Expert Testimony
Case-Control Studies
2011
378 Citations (Scopus)

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 2011, In : Genetics in Medicine. 13, 7, p. 680-685 6 p.

Research output: Contribution to journalArticle

Guidelines
Human Genome
Intellectual Disability
Technology
DNA
245 Citations (Scopus)

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

Developmental Disabilities
Microarray Analysis
Intellectual Disability
Patient Care Management
Autistic Disorder
1 Citation (Scopus)

Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))

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., Jan 7 2011, In : American Journal of Human Genetics. 88, 1, p. 121 1 p.

Research output: Contribution to journalArticle

Medical Genetics
Autistic Disorder
Schizophrenia
39 Citations (Scopus)
Fluorescence In Situ Hybridization
Cytogenetics
Reflex
Chromosomes
Chorionic Villi
2010
1392 Citations (Scopus)

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

Developmental Disabilities
Routine Diagnostic Tests
Karyotyping
Consensus
Genetic Testing
195 Citations (Scopus)

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

Autistic Disorder
Schizophrenia
Megalencephaly
Genes
Kidney

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., 2010, In : Journal of Hematopathology. 3, 2, p. 69-76 8 p.

Research output: Contribution to journalArticle

Ataxia Telangiectasia
Hodgkin Disease
Cerebellar Ataxia
Chromosomal Instability
Inborn Genetic Diseases
7 Citations (Scopus)

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 2010, In : American Journal of Medical Genetics, Part A. 152 A, 10, p. 2623-2627 5 p.

Research output: Contribution to journalArticle

Multiple Hamartoma Syndrome
Mucinous Cystadenoma
Ovary
Polyps
Megalencephaly
2009
99 Citations (Scopus)

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

Autistic Disorder
Costs and Cost Analysis
Intellectual Disability
Single Nucleotide Polymorphism
Angelman Syndrome
20 Citations (Scopus)

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., Mc Williams, 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., 2009, In : Mayo Clinic Proceedings. 84, 9, p. 801-810 10 p.

Research output: Contribution to journalArticle

Islet Cell Carcinoma
Acinar Cell Carcinoma
Interphase
Fluorescence In Situ Hybridization
Pancreas
19 Citations (Scopus)

Infiltrative T regulatory cells in enucleated uveal melanomas

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

Research output: Contribution to journalArticle

Regulatory T-Lymphocytes
Neoplasms
Monosomy
Sclera
Uveal melanoma
16 Citations (Scopus)

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. D., Thorland, E. C., Shevchenko, Y., Grodman, M. & Chung, W. K., May 2009, In : Leukemia Research. 33, 5, p. 662-664 3 p.

Research output: Contribution to journalArticle

Essential Thrombocythemia
Polycythemia Vera
Primary Myelofibrosis
Comparative Genomic Hybridization
Oligonucleotide Array Sequence Analysis
40 Citations (Scopus)

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 2009, In : Genetics in Medicine. 11, 12, p. 866-873 8 p.

Research output: Contribution to journalArticle

Technology
Comparative Genomic Hybridization
Guidelines
Phenotype
2008
31 Citations (Scopus)

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., McPhail, E. & Dogan, A., Aug 2008, In : American Journal of Clinical Pathology. 130, 2, p. 178-185 8 p.

Research output: Contribution to journalArticle

Isochromosomes
Peripheral T-Cell Lymphoma
T-Cell Receptor Genes
Fluorescence In Situ Hybridization
T-Cell Antigen Receptor
93 Citations (Scopus)

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

Sekulic, A. D., 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., 2008, In : Mayo Clinic Proceedings. 83, 7, p. 825-846 22 p.

Research output: Contribution to journalArticle

Melanoma
Neoplasms
Therapeutics
Disease Progression
Cell Cycle
99 Citations (Scopus)

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., McPhail, E., Grogg, K. L., Kurtin, P. J., Macon, W. R. & Dogan, A., Jun 2008, In : Leukemia. 22, 6, p. 1139-1143 5 p.

Research output: Contribution to journalArticle

Peripheral T-Cell Lymphoma
Protein-Tyrosine Kinases
Western Blotting
Immunohistochemistry
Phosphorylation
2007
8 Citations (Scopus)

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 2007, In : Genetics in Medicine. 9, 9, p. 632-641 10 p.

Research output: Contribution to journalArticle

Comparative Genomic Hybridization
Cytogenetics
Validation Studies
Microarray Analysis
Genomics
13 Citations (Scopus)

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

Chromosomes
Clone Cells
Sex Chromosomes
Comparative Genomic Hybridization
Validation Studies
2006
8 Citations (Scopus)

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

Glycerol Kinase
Assays
Genes
Multiplex Polymerase Chain Reaction
Exons
11 Citations (Scopus)

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

Congenital Disorders of Glycosylation
Glycosylation
Karyotyping
Mutation
DNA
29 Citations (Scopus)

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 2006, In : Cancer Genetics and Cytogenetics. 167, 2, p. 177-181 5 p.

Research output: Contribution to journalArticle

B-Cell Chronic Lymphocytic Leukemia
Chromosomes
Neoplasms
Genomic Segmental Duplications
Isochromosomes
33 Citations (Scopus)

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 journalArticle

Telomere
Epilepsy
Seizures
Chromosomes, Human, Pair 20
Phenotype
69 Citations (Scopus)

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 2006, In : Genetics in Medicine. 8, 1, p. 16-23 8 p.

Research output: Contribution to journalArticle

Fluorescence In Situ Hybridization
Reference Values
Metaphase
Sensitivity and Specificity
Lymphoproliferative Disorders
2003
181 Citations (Scopus)

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

Uterine Cervical Neoplasms
Human Artificial Chromosomes
Aphidicolin
Phenotype
Bacterial Artificial Chromosomes
151 Citations (Scopus)

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

Liver Neoplasms
Hepatitis B virus
Uterine Cervical Neoplasms
Virus Integration
Genes
249 Citations (Scopus)

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

DiGeorge Syndrome
Cytogenetic Analysis
Genomic Segmental Duplications
Fluorescence In Situ Hybridization
Artificial Chromosomes
121 Citations (Scopus)

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

Human papillomavirus 18
Carcinoma
Neoplasms
Virus Integration
myc Genes