7q11.23 deletion and duplication von Osborne, Lucy R, Mervis, Carolyn B

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A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes von Allalou, Amina, Nalla, Amarnadh, Prentice, Kacey J, Liu, Ying, Zhang, Ming, Dai, Feihan F, Ning, Xian, Osborne, Lucy R, Cox, Brian J, Gunderson, Erica P, Wheeler, Michael B

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Williams syndrome von Kozel, Beth A., Barak, Boaz, Kim, Chong Ae, Mervis, Carolyn B., Osborne, Lucy R., Porter, Melanie, Pober, Barbara R.

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Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23 von Strong, Emma, Butcher, Darci T., Singhania, Rajat, Mervis, Carolyn B., Morris, Colleen A., De Carvalho, Daniel, Weksberg, Rosanna, Osborne, Lucy R.

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Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice von O'Leary, Jennifer, Osborne, Lucy R

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Duplication of GTF2I Results in Separation Anxiety in Mice and Humans von Mervis, Carolyn B., Dida, Joana, Lam, Emily, Crawford-Zelli, Nicole A., Young, Edwin J., Henderson, Danielle R., Onay, Tuncer, Morris, Colleen A., Woodruff-Borden, Janet, Yeomans, John, Osborne, Lucy R.

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First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers‐Danlos Syndrome von Chen, Frieda, Guo, Ruolin, Itoh, Shousaku, Moreno, Luisa, Rosenthal, Esther, Zappitelli, Tanya, Zirngibl, Ralph A, Flenniken, Ann, Cole, William, Grynpas, Marc, Osborne, Lucy R, Vogel, Wolfgang, Adamson, Lee, Rossant, Janet, Aubin, Jane E

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Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype von Qaiser, Farah, Yin, Yue, Mervis, Carolyn B., Morris, Colleen A., Klein-Tasman, Bonita P., Tam, Elaine, Osborne, Lucy R., Yuen, Ryan K. C.

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7q11.23 Duplication syndrome: Physical characteristics and natural history von Morris, Colleen A., Mervis, Carolyn B., Paciorkowski, Alex P., Abdul-Rahman, Omar, Dugan, Sarah L., Rope, Alan F., Bader, Patricia, Hendon, Laura G., Velleman, Shelley L., Klein-Tasman, Bonita P., Osborne, Lucy R.

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New Roles of Syntaxin-1A in Insulin Granule Exocytosis and Replenishment von Liang, Tao, Qin, Tairan, Xie, Li, Dolai, Subhankar, Zhu, Dan, Prentice, Kacey J., Wheeler, Michael, Kang, Youhou, Osborne, Lucy, Gaisano, Herbert Y.

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Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 von Marshall, Christian R., Young, Edwin J., Pani, Ariel M., Freckmann, Mary-Louise, Lacassie, Yves, Howald, Cédric, Fitzgerald, Kristi K., Peippo, Maarit, Morris, Colleen A., Shane, Kate, Priolo, Manuela, Morimoto, Masafumi, Kondo, Ikuko, Manguoglu, Esra, Berker-Karauzum, Sibel, Edery, Patrick, Hobart, Holly H., Mervis, Carolyn B., Zuffardi, Orsetta, Reymond, Alexandre, Kaplan, Paige, Tassabehji, May, Gregg, Ronald G., Scherer, Stephen W., Osborne, Lucy R.

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Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome von Liu, Delong, Billington, Jr, Charles J, Raja, Neelam, Wong, Zoe C, Levin, Mark D, Resch, Wulfgang, Alba, Camille, Hupalo, Daniel N, Biamino, Elisa, Bedeschi, Maria Francesca, Digilio, Maria Cristina, Squeo, Gabriella Maria, Villa, Roberta, Parrish, Pheobe C R, Knutsen, Russell H, Osgood, Sharon, Freeman, Joy A, Dalgard, Clifton L, Merla, Giuseppe, Pober, Barbara R, Mervis, Carolyn B, Roberts, Amy E, Morris, Colleen A, Osborne, Lucy R, Kozel, Beth A

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DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number von Strong, Emma, Mervis, Carolyn B., Tam, Elaine, Morris, Colleen A., Klein-Tasman, Bonita P., Velleman, Shelley L., Osborne, Lucy R.

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Caveat mTOR: aberrant signaling disrupts corticogenesis von Osborne, Lucy R

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Spatial gene expression analysis of neuroanatomical differences in mouse models von Fernandes, Darren J., Ellegood, Jacob, Askalan, Rand, Blakely, Randy D., Dicicco-Bloom, Emanuel, Egan, Sean E., Osborne, Lucy R., Powell, Craig M., Raznahan, Armin, Robins, Diane M., Salter, Michael W., Sengar, Ameet S., Veenstra-VanderWeele, Jeremy, Henkelman, R.M., Lerch, Jason P.

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Children with 7q11.23 duplication syndrome: Psychological characteristics von Mervis, Carolyn B., Klein-Tasman, Bonita P., Huffman, Myra J., Velleman, Shelley L., Pitts, C. Holley, Henderson, Danielle R., Woodruff-Borden, Janet, Morris, Colleen A., Osborne, Lucy R.

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Severe Expressive-Language Delay Related to Duplication of the Williams–Beuren Locus von Somerville, Martin J, Mervis, Carolyn B, Young, Edwin J, Seo, Eul-Ju, del Campo, Miguel, Bamforth, Stephen, Peregrine, Ella, Loo, Wayne, Lilley, Margaret, Pérez-Jurado, Luis A, Morris, Colleen A, Scherer, Stephen W, Osborne, Lucy R

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Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models von Deurloo, Marielle H. S., Turlova, Ekaterina, Chen, Wen-Liang, Lin, You Wei, Tam, Elaine, Tassew, Nardos G., Wu, Michael, Huang, Ya-Chi, Crawley, Jacqueline N., Monnier, Philippe P., Groffen, Alexander J. A., Sun, Hong-Shuo, Osborne, Lucy R., Feng, Zhong-Ping

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Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia von Feuk, Lars, Kalervo, Aino, Lipsanen-Nyman, Marita, Skaug, Jennifer, Nakabayashi, Kazuhiko, Finucane, Brenda, Hartung, Danielle, Innes, Micheil, Kerem, Batsheva, Nowaczyk, Małgorzata J., Rivlin, Joseph, Roberts, Wendy, Senman, Lili, Summers, Anne, Szatmari, Peter, Wong, Virginia, Vincent, John B., Zeesman, Susan, Osborne, Lucy R., Cardy, Janis Oram, Kere, Juha, Scherer, Stephen W., Hannula-Jouppi, Katariina

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Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome von Khattak, Shahryar, Brimble, Elise, Zhang, Wenbo, Zaslavsky, Kirill, Strong, Emma, Ross, P Joel, Hendry, Jason, Mital, Seema, Salter, Michael W, Osborne, Lucy R, Ellis, James

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