Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

由 Bae, Gyu-Un, Domené, Sabina, Roessler, Erich, Schachter, Karen, Kang, Jong-Sun, Muenke, Maximilian, Krauss, Robert S.
出版 2011

A Novel SIX3 Mutation Segregates With Holoprosencephaly in a Large Family

由 Solomon, Benjamin D., Lacbawan, Felicitas, Jain, Mahim, Domené, Sabina, Roessler, Erich, Moore, Cynthia, Dobyns, William B., Muenke, Maximilian
出版 2009

Enhancer turnover and conserved regulatory function in vertebrate evolution

由 Domené, Sabina, Bumaschny, Viviana F., de Souza, Flávio S. J., Franchini, Lucía F., Nasif, Sofía, Low, Malcolm J., Rubinstein, Marcelo
出版 2013

Mutations in the human SIX3 gene in holoprosencephaly are loss of function

由 Domené, Sabina, Roessler, Erich, El-Jaick, Kenia B., Snir, Mirit, Brown, Jamie L., Vélez, Jorge I., Bale, Sherri, Lacbawan, Felicitas, Muenke, Maximilian, Feldman, Benjamin
出版 2008

Unraveling the Molecular Players at the Cholinergic Efferent Synapse of the Zebrafish Lateral Line

由 Carpaneto Freixas, Agustín E., Moglie, Marcelo J., Castagnola, Tais, Salatino, Lucia, Domene, Sabina, Marcovich, Irina, Gallino, Sofia, Wedemeyer, Carolina, Goutman, Juan D., Plazas, Paola V., Elgoyhen, Ana Belén
發表在 J Neurosci (2021)

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to Impaired Growth and Developmental Defects in Zebrafish Embryos

由 Landi, Estefania, Karabatas, Liliana, Ramirez, Laura, Gutierrez, Mariana, Scaglia, Paula Alejandra, Keselman, Ana Claudia, Braslavsky, Debora, Sanguineti, Nora, Bergada, Ignacio, Jasper, Hector Guillermo, Domene, Horacio M, Plazas, Paola, Domene, Sabina
發表在 J Endocr Soc (2020)

Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

由 Gutiérrez, Mariana, Scaglia, Paula, Keselman, Ana, Martucci, Lucía, Karabatas, Liliana, Domené, Sabina, Martin, Ayelen, Pennisi, Patricia, Blanco, Miguel, Sanguineti, Nora, Bezrodnik, Liliana, Giovanni, Daniela Di, Caldirola, María Soledad, Azcoiti, María Esnaola, Gaillard, María Isabel, Denson, Lee A., Zhang, Kejian, Husami, Ammar, Jones, Nana-Hawa Yayah, Hwa, Vivian, Revale, Santiago, Vázquez, Martín, Jasper, Héctor, Kumar, Ashish, Domené, Horacio
發表在 Mol Cell Endocrinol (2018)