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Number of items: 3.

Journal Article

Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Perez-Palma, Eduardo ORCID: 0000-0003-0546-5141, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna, Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gre-Gory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Francis, Holm, Ingrid A., Horn, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Konick, Susan, Koziura, Mary, Krasnewich, Donna M., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majch-erska, Marta M., Malicdan, May Christine, V, Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martinez-Agosto, Julian A., Mar-waha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa F., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D. M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tan, Queenie K-G, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli and Zheng, Allison (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. Epilepsia, 60 (3). S. 406 - 419. HOBOKEN: WILEY. ISSN 1528-1167

Tokita, Mari J., Chen, Chun-An, Chitayat, David, Macnamara, Ellen ORCID: 0000-0002-9418-3287, Rosenfeld, Jill A., Hanchard, Neil, Lewis, Andrea M., Brown, Chester W., Marom, Ronit ORCID: 0000-0003-3524-661X, Shao, Yunru, Novacic, Danica, Wolfe, Lynne, Wahl, Colleen, Tifft, Cynthia J., Toro, Camilo, Bernstein, Jonathan A., Hale, Caitlin L., Silver, Julia, Hudgins, Louanne, Ananth, Amitha, Hanson-Kahn, Andrea, Shuster, Shirley, Magoulas, Pilar L., Patel, Vipulkumar N., Zhu, Wenmiao, Chen, Stella M., Jiang, Yanjun, Liu, Pengfei ORCID: 0000-0002-4177-709X, Eng, Christine M., Batkovskyte, Dominyka, di Ronza, Alberto, Sardiello, Marco, Lee, Brendan H., Schaaf, Christian P., Yang, Yaping and Wang, Xia ORCID: 0000-0002-7750-1167 (2018). De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. Am. J. Hum. Genet., 103 (1). S. 154 - 163. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E. ORCID: 0000-0003-4814-6765, Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby ORCID: 0000-0002-1852-2849, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjorg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui and Liu, Pengfei ORCID: 0000-0002-4177-709X (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet. Med., 21 (3). S. 663 - 676. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

This list was generated on Tue May 24 03:41:15 2022 CEST.