Overlapping PCR for Bidirectional PCR Amplification of Specific Alleles: A Rapid One-Tube Method for Simultaneously Differentiating Homozygotes and Heterozygotes

Por Liu, Qiang, Thorland, Erik C., Heit, John A., Sommer, Steve S.
Publicado em 1997

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

Por Aypar, Umut, Hoppman, Nicole L., Thorland, Erik C., Dawson, D. Brian
Publicado no Mol Cytogenet (2016)

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

Por Lyon, Sarah M., Waggoner, Darrel, Halbach, Sara, Thorland, Erik C., Khorasani, Leila, Reid, Russell R.
Publicado no Genes Dis (2015)

Incidence of TCR and TCL1 Gene Translocations and Isochromosome 7q in Peripheral T-cell Lymphomas Using Fluorescence In Situ Hybridization

Por Feldman, Andrew L., Law, Mark, Grogg, Karen L., Thorland, Erik C., Fink, Stephanie, Kurtin, Paul J., Macon, William R., Remstein, Ellen D., Dogan, Ahmet
Publicado em 2008

Experimental Designs for Array Comparative Genomic Hybridization (aCGH) Technology

Por 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.
Publicado em 2013

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

Por 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.
Publicado em 2009

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

Por 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.
Publicado no Neurology (2016)

Fluorescence In Situ Hybridization to Visualize Genetic Abnormalities in Interphase Cells of Acinar Cell Carcinoma, Ductal Adenocarcinoma, and Islet Cell Carcinoma of the Pancreas

Por 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.
Publicado em 2009

Malignant Melanoma in the 21st Century: The Emerging Molecular Landscape

Por 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.
Publicado em 2008

The genomic landscape of small intestine neuroendocrine tumors

Por 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.
Publicado em 2013

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

Por 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.
Publicado em 2003

Subtelomeric Deletion of Chromosome 10p15.3: Clinical Findings and Molecular Cytogenetic Characterization

Por 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
Publicado em 2012

Mouse model implicates GNB3 duplication in a childhood obesity syndrome

Por 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.
Publicado em 2013

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

Por 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.
Publicado no Sci Rep (2016)

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

Por 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.
Publicado em 2010

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Por Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Publicado em 2010

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Por Moreno-De-Luca, Daniel, Mulle, Jennifer G., Kaminsky, Erin B., Sanders, Stephan J., Myers, Scott M., Adam, Margaret P., Pakula, Amy T., Eisenhauer, Nancy J., Uhas, Kim, Weik, LuAnn, Guy, Lisa, Care, Melanie E., Morel, Chantal F., Boni, Charlotte, Salbert, Bonnie Anne, Chandrareddy, Ashadeep, Demmer, Laurie A., Chow, Eva W.C., Surti, Urvashi, Aradhya, Swaroop, Pickering, Diane L., Golden, Denae M., Sanger, Warren G., Aston, Emily, Brothman, Arthur R., Gliem, Troy J., Thorland, Erik C., Ackley, Todd, Iyer, Ram, Huang, Shuwen, Barber, John C., Crolla, John A., Warren, Stephen T., Martin, Christa L., Ledbetter, David H.
Publicado em 2011

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

Por Kaminsky, Erin B., Kaul, Vineith, Paschall, Justin, Church, Deanna M., Bunke, Brian, Kunig, Dawn, Moreno-De-Luca, Daniel, Moreno-De-Luca, Andres, Mulle, Jennifer G., Warren, Stephen T., Richard, Gabriele, Compton, John G., Fuller, Amy E., Gliem, Troy J., Huang, Shuwen, Collinson, Morag N., Beal, Sarah J., Ackley, Todd, Pickering, Diane L., Golden, Denae M., Aston, Emily, Whitby, Heidi, Shetty, Shashirekha, Rossi, Michael R., Rudd, M. Katharine, South, Sarah T., Brothman, Arthur R., Sanger, Warren G., Iyer, Ramaswamy K., Crolla, John A., Thorland, Erik C., Aradhya, Swaroop, Ledbetter, David H., Martin, Christa L.
Publicado em 2011

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

Por Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Publicado no Nat Genet (2016)