检索结果 - Thorland, Erik C.

Overlapping PCR for Bidirectional PCR Amplification of Specific Alleles: A Rapid One-Tube Method for Simultaneously Differentiating Homozygotes and Heterozygotes 由 Liu, Qiang, Thorland, Erik C., Heit, John A., Sommer, Steve S.

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Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features 由 Aypar, Umut, Hoppman, Nicole L., Thorland, Erik C., Dawson, D. Brian

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Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12–19p13.2 由 Lyon, Sarah M., Waggoner, Darrel, Halbach, Sara, Thorland, Erik C., Khorasani, Leila, Reid, Russell R.

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Incidence of TCR and TCL1 Gene Translocations and Isochromosome 7q in Peripheral T-cell Lymphomas Using Fluorescence In Situ Hybridization 由 Feldman, Andrew L., Law, Mark, Grogg, Karen L., Thorland, Erik C., Fink, Stephanie, Kurtin, Paul J., Macon, William R., Remstein, Ellen D., Dogan, Ahmet

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Experimental Designs for Array Comparative Genomic Hybridization (aCGH) Technology 由 McDonnell, Shannon K., Riska, Shaun M., Klee, Eric W., Thorland, Erik C., Kay, Neil E., Thibodeau, Stephen N., Parker, Alexander S., Eckel-Passow, Jeanette E.

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A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease 由 Mefford, Heather C., Cooper, Gregory M., Zerr, Troy, Smith, Joshua D., Baker, Carl, Shafer, Neil, Thorland, Erik C., Skinner, Cindy, Schwartz, Charles E., Nickerson, Deborah A., Eichler, Evan E.

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Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy 由 Wang, Wei, Wang, Chen, Dawson, D. Brian, Thorland, Erik C., Lundquist, Patrick A., Eckloff, Bruce W., Wu, Yanhong, Baheti, Saurabh, Evans, Jared M., Scherer, Steven S., Dyck, Peter J., Klein, Christopher J.

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Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Ge... 由 Riggs, Erin Rooney, Andersen, Erica F., Cherry, Athena M., Kantarci, Sibel, Kearney, Hutton, Patel, Ankita, Raca, Gordana, Ritter, Deborah I., South, Sarah T., Thorland, Erik C., Pineda-Alvarez, Daniel, Aradhya, Swaroop, Martin, Christa Lese

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Fluorescence In Situ Hybridization to Visualize Genetic Abnormalities in Interphase Cells of Acinar Cell Carcinoma, Ductal Adenocarcinoma, and Islet Cell Carcinoma of the Pancreas 由 Dewald, Gordon W., Smyrk, Thomas C., Thorland, Erik C., McWilliams, Robert R., Van Dyke, Daniel L., Keefe, Jeannette G., Belongie, Kimberly J., Smoley, Stephanie A., Knutson, Darlene L., Fink, Stephanie R., Wiktor, Anne E., Petersen, Gloria M.

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Malignant Melanoma in the 21st Century: The Emerging Molecular Landscape 由 Sekulic, Aleksandar, Haluska, Paul, Miller, Arlo J., De Lamo, Josep Genebriera, Ejadi, Samuel, Pulido, Jose S., Salomao, Diva R., Thorland, Erik C., Vile, Richard G., Swanson, David L., Pockaj, Barbara A., Laman, Susan D., Pittelkow, Mark R., Markovic, Svetomir N.

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The genomic landscape of small intestine neuroendocrine tumors 由 Banck, Michaela S., Kanwar, Rahul, Kulkarni, Amit A., Boora, Ganesh K., Metge, Franziska, Kipp, Benjamin R., Zhang, Lizhi, Thorland, Erik C., Minn, Kay T., Tentu, Ramesh, Eckloff, Bruce W., Wieben, Eric D., Wu, Yanhong, Cunningham, Julie M., Nagorney, David M., Gilbert, Judith A., Ames, Matthew M., Beutler, Andreas S.

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Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients 由 Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.

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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community 由 Tester, David J., Bombei, Hannah M., Fitzgerald, Kristi K., Giudicessi, John R., Pitel, Beth A., Thorland, Erik C., Russell, Barbara G., Hamrick, Samantha K., Kim, C. S. John, Haglund-Turnquist, Carla M., Johnsrude, Christopher L., Atkins, Dianne L., Ochoa Nunez, Luis A., Law, Ian, Temple, Joel, Ackerman, Michael J.

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Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia 由 Aypar, Umut, Smoley, Stephanie A., Pitel, Beth A., Pearce, Kathryn E., Zenka, Roman M., Vasmatzis, George, Johnson, Sarah H., Smadbeck, James B., Peterson, Jess F., Geiersbach, Katherine B., Van Dyke, Daniel L., Thorland, Erik C., Jenkins, Robert B., Ketterling, Rhett P., Greipp, Patricia T., Kearney, Hutton M., Hoppman, Nicole L., Baughn, Linda B.

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Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization 由 DeScipio, Cheryl, Conlin, Laura, Rosenfeld, Jill, Tepperberg, James, Pasion, Romela, Patel, Ankita, McDonald, Marie T, Aradhya, Swaroop, Ho, Darlene, Goldstein, Jennifer, McGuire, Marianne, Mulchandani, Surabhi, Medne, Livija, Rupps, Rosemarie, Serrano, Alvaro H., Thorland, Erik C, Tsai, Anne C-H, Hilhorst-Hofstee, Yvonne, Ruivenkamp, Claudia AL, Van Esch, Hilde, Addor, Marie-Claude, Martinet, Danielle, Mason, Thornton B.A., Clark, Dinah, Spinner, Nancy B, Krantz, Ian D

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Mouse model implicates GNB3 duplication in a childhood obesity syndrome 由 Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine, Searle, Beverly A, Wynn, Sarah L.

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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay 由 Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features 由 Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

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Copy Number Variant Discrepancy Resolution Using the ClinGen Dosage Sensitivity Map Results in Updated Clinical Interpretations in ClinVar 由 Riggs, Erin R., Nelson, Tristan, Merz, Andrew, Ackley, Todd, Bunke, Brian, Collins, Christin D., Collinson, Morag N., Fan, Yao-Shan, Goodenberger, McKinsey L., Golden, Denae M., Haglund-Hazy, Linda, Krgovic, Danijela, Lamb, Allen N., Lewis, Zoe, Li, Guang, Liu, Yajuan, Meck, Jeanne, Neufeld-Kaiser, Whitney, Runke, Cassandra K., Sanmann, Jennifer N., Stavropoulos, Dimitri J., Strong, Emma, Su, Meng, Tayeh, Marwan K., Vokac, Nadja Kokalj, Thorland, Erik C., Andersen, Erica, Martin, Christa L.

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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies 由 Miller, David T., Adam, Margaret P., Aradhya, Swaroop, Biesecker, Leslie G., Brothman, Arthur R., Carter, Nigel P., Church, Deanna M., Crolla, John A., Eichler, Evan E., Epstein, Charles J., Faucett, W. Andrew, Feuk, Lars, Friedman, Jan M., Hamosh, Ada, Jackson, Laird, Kaminsky, Erin B., Kok, Klaas, Krantz, Ian D., Kuhn, Robert M., Lee, Charles, Ostell, James M., Rosenberg, Carla, Scherer, Stephen W., Spinner, Nancy B., Stavropoulos, Dimitri J., Tepperberg, James H., Thorland, Erik C., Vermeesch, Joris R., Waggoner, Darrel J., Watson, Michael S., Martin, Christa Lese, Ledbetter, David H.

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