Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Autor: 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., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., 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., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, 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, Frances, Holm, Ingrid A., Hom, 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., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, 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., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., 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., Renteria, Genecee, 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., Sweetser, David 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., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, 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, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison, Reynolds, John J., Baratang, Nissan Vida, Phillips, Jennifer B., Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R., Christiansen, Audrey E., Lanza, Denise G., Seavitt, John R., Jain, Mahim, Li, Xiaohui, Parry, David A., Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Schlesinger, Alan E., Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N., Gibbs, Richard A., Bi, Weimin, Emrick, Lisa, Postlethwait, John, Dickinson, Mary E., Beaudet, Arthur L., Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D., Bertola, Débora, Yamamoto, Guilherme L., Baratela, Wagner A.R., Butler, Merlin G., Ali, Asim, Adeli, Mehdi, Cohn, Daniel H., Krakow, Deborah, Jackson, Andrew P., Lees, Melissa, Offiah, Amaka C., Carlston, Colleen M., Carey, John C., Stewart, Grant S., Campeau, Philippe M., Lee, Brendan

Publikováno v: In The American Journal of Human Genetics 7 March 2019 104(3):422-438

Ligand-independent activation of the Hedgehog pathway displays non-cell autonomous proliferation during eye development in Drosophila

Autor: Christiansen, Audrey E., Ding, Tian, Bergmann, Andreas

Publikováno v: In Mechanisms of Development July-August 2012 129(5-8):98-108

Allocation and specification of the genital disc precursor cells in Drosophila

Autor: Chen, Elizabeth H., Christiansen, Audrey E., Baker, Bruce S.

Publikováno v: In Developmental Biology 2005 281(2):270-285

Sex comes in from the cold: the integration of sex and pattern

Autor: Christiansen, Audrey E, Keisman, Eric L, Ahmad, Shaad M, Baker, Bruce S ^*

Publikováno v: In Trends in Genetics 1 October 2002 18(10):510-516

The Sex Determination Gene doublesex Regulates the A/P Organizer to Direct Sex-Specific Patterns of Growth in the Drosophila Genital Imaginal Disc

Autor: Keisman, Eric L., Christiansen, Audrey E., Baker, Bruce S. ^*

Publikováno v: In Developmental Cell 2001 1(2):215-225