Biallelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Lindsay Burrage, John Reynolds, Nissan Baratang, Jennifer Phillips, Jeremy Wegner, Ashley McFarquhar, Martin Higgs, Audrey Christiansen, Denise Lanza, John Seavitt, Mahim Jain, Xiaohui Li, David Parry, Vandana Raman, David Chitayat, Ivan Chinn, Alison Bertuch, Lefkothea Karaviti, Alan Schlesinger, Dawn EarlMichael Bamshad, Ravi Savarirayan, Harsha Doddapaneni, Donna Muzny, Shalini Jhangiani, Christine Eng, Richard Gibbs, Weimin Bi, Lisa Emrick, Jill Rosenfeld, John Postlethwait, Monte Westerfield, Mary Dickinson,, Arthur Beaudet, Emmanuelle Ranza, Celine Huber, Valérie Cormier-Daire, Wei Shen, Rong Mao, Jason Heaney, Jordan Orange, Undiagnosed Diseases Network, Débora Bertola, Guilherme Yamamoto, Wagner Baratela, Merlin Butler, Asim Ali, Mehdi Adeli, Daniel Cohn, Deborah Krakow, Andrew Jackson, Melissa Lees, Amaka Offiah, Colleen Carlston, John Carey, Grant Stewart, Carlos Bacino, Philippe Campeau, Brendan Lee

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6 Citations (Scopus)
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  • 2019

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

    Chang, H. R., Cho, S. Y., Lee, J. H., Lee, E., Soo, J., Lee, H. R., Cavalcanti, D. P., Mäkitie, O., Valta, H., Girisha, K. M., Lee, C., Neethukrishna, K., Bhavani, G. S., Shukla, A., Nampoothiri, S., Phadke, S. R., Park, M. J., Ikegawa, S., Wang, Z., Higgs, M., & 15 othersStewart, G., Jung, E., Lee, M-S., Park, J. H., Lee, E. A., Kim, H., Myung, K., Jeon, W., Lee, K., Kim, D., Kim, O-H., Choi, M., Lee, H-W., Kim, Y. & Cho, T-J., 7 Mar 2019, In: American Journal of Human Genetics. 104, 3, p. 439-453

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    7 Citations (Scopus)
    157 Downloads (Pure)