ZFIN Person: Htun, Stephanie

ZFIN ID: ZDB-PERS-180926-1

Htun, Stephanie

Email:	stephanie.htun@ucsf.edu
URL:
Affiliation:	Slavotinek Lab
Address:	University of San Francisco, Room RH384C, 1550 4th St, San Francisco CA, 94143-2711
Country:	United States
Phone:
Fax:
ORCID ID:

BIOGRAPHY AND RESEARCH INTERESTS

PUBLICATIONS

Riedhammer, K.M., Burgemeister, A.L., Cantagrel, V., Amiel, J., Siquier, K., Boddaert, N., Hertecant, J., Kannouche, P.L., Pouvelle, C., Htun, S., Slavotinek, A.M., Beetz, C., Diego-Alvarez, D., Kampe, K., Fleischer, N., Awamleh, Z., Weksberg, R., Kopajtich, R., Meitinger, T., Suleiman, J., El-Hattab, A.W. (2022) Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Human molecular genetics. 31(18):3083-3094

Slavotinek, A., Misceo, D., Htun, S., Mathisen, L., Frengen, E., Foreman, M., Hurtig, J.E., Enyenihi, L., Sterrett, M.C., Leung, S.W., Schneidman-Duhovny, D., Estrada-Veras, J., Duncan, J.L., Haaxma, C.A., Kamsteeg, E.J., Xia, V., Beleford, D., Si, Y., Douglas, G., Treidene, H.E., van Hoof, A., Fasken, M.B., Corbett, A.H. (2020) Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Human molecular genetics. 29:2218-2239

Krall, M., Htun, S., Slavotinek, A. (2019) Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. PLoS One. 14:e0212121

Krall, M., Htun, S., Schnur, R.E., Brooks, A.S., Baker, L., de Alba Campomanes, A., Lamont, R.E., Gripp, K.W., Care 4 Rare Canada Consortium, Schneidman-Duhovny, D., Innes, A.M., Mancini, G.M.S., Slavotinek, A.M. (2019) Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. European journal of human genetics : EJHG. 27(4):582-593

Krall, M., Htun, S., Anand, D., Hart, D., Lachke, S.A., Slavotinek, A.M. (2018) Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Human genetics. 137(5):427-428

NON-ZEBRAFISH PUBLICATIONS