ZFIN ID: ZDB-PERS-131205-2
Slavotinek, Anne
Email: anne.slavotinek@ucsf.edu
URL:
Affiliation: Slavotinek Lab
Address: Professor of Clinical Pediatrics Director, Medical Genetics and Genomics Division of Genetics Department of Pediatrics University of California, San Francisco UCSF Benioff Children's Hospital Room 384C, Rock Hall, 1550 4th St, San Francisco CA 94158
Country: United States
Phone: 415 514 1783
Fax: 415 476 9976
ORCID ID: 0000-0001-7053-2449


BIOGRAPHY AND RESEARCH INTERESTS


PUBLICATIONS
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

NON-ZEBRAFISH PUBLICATIONS