Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2 von Shaffer, Lisa G, Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants von Girirajan, Santhosh, Rosenfeld, Jill A, Coe, Bradley P, Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A, McConnell, Juliann S, Angle, Brad, Meschino, Wendy S, Nezarati, Marjan M, Asamoah, Alexander, Jackson, Kelly E, Gowans, Gordon C, Martin, Judith A, Carmany, Erin P, Stockton, David W, Schnur, Rhonda E, Penney, Lynette S, Martin, Donna M, Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M, Escobar, Luis F, El-Khechen, Dima, Johnson, Kisha D, Lebel, Robert R, Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K, Spence, J. Edward, Martin, Laura S, Clericuzio, Carol, Ballif, Blake C, Shaffer, Lisa G, Eichler, Evan E

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication von Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G

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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities von Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.

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Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis von Thapa, Monika, Asamoah, Alexander, Gowans, Gordon C., Platky, Kathryn C., Barch, Margaret J., Mouchrani, Patricia, Rajakaruna, Cecilia, Hersh, Joseph H.

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Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome von Pani, Ariel M, Hobart, Holly H, Morris, Colleen A, Mervis, Carolyn B, Bray-Ward, Patricia, Kimberley, Kendra W, Rios, Cecilia M, Clark, Robin C, Gulbronson, Maricela D, Gowans, Gordon C, Gregg, Ronald G

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NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype von Moles, Kimberly J., Gowans, Gordon C., Gedela, Satyanarayana, Beversdorf, David, Yu, Arthur, Seaver, Laurie H., Schultz, Roger A., Rosenfeld, Jill A., Torchia, Beth S., Shaffer, Lisa G.

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A Two-Month-Old Infant with Respiratory Distress and Left Ventricular Hypertrophy von Kayrouz, Ilana L., MD, Das, Bibhuti B., MD, Gowans, Gordon C., MD, Johnsrude, Christopher L., MD

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Neurotransmitter abnormalities and response to supplementation in SPG11 von Vanderver, Adeline, Tonduti, Davide, Auerbach, Sarah, Schmidt, Johanna L., Parikh, Sumit, Gowans, Gordon C., Jackson, Kelly E., Brock, Pamela L., Patterson, Marc, Nehrebecky, Michelle, Godfrey, Rena, Zein, Wadih M., Gahl, William, Toro, Camilo

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Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing von Kalbfleisch, Ted, Brock, Pamela, Snow, Angela, Neklason, Deborah, Gowans, Gordon, Klein, Jon

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Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems von Williams, Stephen R., Aldred, Micheala A., Der Kaloustian, Vazken M., Halal, Fahed, Gowans, Gordon, McLeod, D. Ross, Zondag, Sara, Toriello, Helga V., Magenis, R. Ellen, Elsea, Sarah H.

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Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmenta... von Haj, Roland, Jackson, Kelly, Torchia, Beth A, Shaffer, Lisa G, Bejjani, Bassem A, Gowans, Gordon C, Ruff, Michael W

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay von Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G

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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females von Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

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The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup von Berry, Susan A., Jurek, Anne M., Anderson, Carolyn, Bentler, Kristi

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A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay von Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.

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Effects of cocaine and d-amphetamine on sustained and selective attention in rats von Grilly, David M., Gowans, Gordon C., McCann, Don S., Grogan, Timothy W.

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Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome von Angle, Brad, Yen, Frank, Hersh, Joseph H., Gowans, Gordon

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Comparison of the Effects of Morphine and Immobilization Stress on Discrimination Performance of Rats von Grilly, David M, Gowans, Gordon C

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Effects of naltrexone, andd-amphetamine, and their interaction on the stimulus control of choice behavior of rats von Grilly, David M., Gowans, Gordon C.

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