ZFIN Lab: Slavotinek Lab

ZFIN ID: ZDB-LAB-180926-1

Slavotinek Lab

PI/Director:	Slavotinek, Anne
Contact Person:	Slavotinek, Anne
Email:	anne.Slavotinek@ucsf.edu
URL:
Address:	University of San Francisco, Room RH384C, 1550 4th St, San Francisco CA, 94143-2711
Country:	United States
Phone:	415 476 2757
Fax:	415 476 9305
Line Designation:	s

GENOMIC FEATURES ORIGINATING FROM THIS LAB

Show all 6 genomic features

STATEMENT OF RESEARCH INTERESTS

LAB MEMBERS

Htun, Stephanie Research Staff

ZEBRAFISH PUBLICATIONS OF LAB MEMBERS

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

Krall, M., Htun, S., Anand, D., Hart, D., Lachke, S.A., Slavotinek, A.M. (2018) 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(4):315-328

Kievit, A., Tessadori, F., Douben, H., Jordens, I., Maurice, M., Hoogeboom, J., Hennekam, R., Nampoothiri, S., Kayserili, H., Castori, M., Whiteford, M., Motter, C., Melver, C., Cunningham, M., Hing, A., Kokitsu-Nakata, N.M., Vendramini-Pittoli, S., Richieri-Costa, A., Baas, A.F., Breugem, C.C., Duran, K., Massink, M., Derksen, P.W.B., van IJcken, W.F.J., van Unen, L., Santos-Simarro, F., Lapunzina, P., Gil-da Silva Lopes, V.L., Lustosa-Mendes, E., Krall, M., Slavotinek, A., Martinez-Glez, V., Bakkers, J., van Gassen, K.L.I., de Klein, A., van den Boogaard, M.H., van Haaften, G. (2018) Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. European journal of human genetics : EJHG. 26(2):210-219

Volpi, S., Yamazaki, Y., Brauer, P.M., van Rooijen, E., Hayashida, A., Slavotinek, A., Sun Kuehn, H., Di Rocco, M., Rivolta, C., Bortolomai, I., Du, L., Felgentreff, K., Ott de Bruin, L., Hayashida, K., Freedman, G., Marcovecchio, G.E., Capuder, K., Rath, P., Luche, N., Hagedorn, E.J., Buoncompagni, A., Royer-Bertrand, B., Giliani, S., Poliani, P.L., Imberti, L., Dobbs, K., Poulain, F.E., Martini, A., Manis, J., Linhardt, R.J., Bosticardo, M., Rosenzweig, S.D., Lee, H., Puck, J.M., Zúñiga-Pflücker, J.C., Zon, L., Park, P.W., Superti-Furga, A., Notarangelo, L.D. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.. The Journal of experimental medicine. 214(3):623-637

Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L.B., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S.N., Bainbridge, M.N., Lawson, K.S., Pehlivan, D., Okamoto, Y., Withers, M., Mancias, P., Slavotinek, A., Reitnauer, P.J., Goksungur, M.T., Shy, M., Crawford, T.O., Koenig, M., Willer, J., Flores, B.N., Pediaditrakis, I., Us, O., Wiszniewski, W., Parman, Y., Antonellis, A., Muzny, D.M., Baylor-Hopkins Center for Mendelian Genomics, Katsanis, N., Battaloglu, E., Boerwinkle, E., Gibbs, R.A., Lupski, J.R. (2015) Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Reports. 12(7):1169-83

Wu, D., Mandal, S., Choi, A., Anderson, A., Prochazkova, M., Perry, H., Gil-da-Silva-Lopes, V.L., Lao, R., Wan, E., Tang, P.L., Kwok, P.Y., Klein, O., Zhuan, B., Slavotinek, A.M. (2015) DLX4 is Associated With Orofacial Clefting and Abnormal Jaw Development. Human molecular genetics. 24(15):4340-52

Slavotinek, A., Kaylor, J., Pierce, H., Cahr, M., DeWard, S.J., Schneidman-Duhovny, D., Alsadah, A., Salem, F., Schmajuk, G., Mehta, L. (2015) CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. American journal of human genetics. 96:162-9