Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing

por del Viso, Florencia, Bhattacharya, Dipankan, Kong, Yong, Gilchrist, Michael J, Khokha, Mustafa K
Publicado 2012

The Ribosome Biogenesis Factor Nol11 Is Required for Optimal rDNA Transcription and Craniofacial Development in Xenopus

por Griffin, John N., Sondalle, Samuel B., del Viso, Florencia, Baserga, Susan J., Khokha, Mustafa K.
Publicado 2015

SAT-340 Familial Hypocalciuric Hypercalcemia Due to a C.571G>A (p.Glu191Lys) Variant in the GNA11 Gene

por Jeng, Henry Shiheng, Knoll, Michelle, Del Viso, Florencia, Baker, Darren, Repnikova, Elena, Feldt, Matthew Maximilian
Publicado 2020

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

por Tessadori, Federico, Duran, Karen, Knapp, Karen, Fellner, Matthias, Smithson, Sarah, Beleza Meireles, Ana, Elting, Mariet W., Waisfisz, Quinten, O’Donnell-Luria, Anne, Nowak, Catherine, Douglas, Jessica, Ronan, Anne, Brunet, Theresa, Kotzaeridou, Urania, Svihovec, Shayna, Saenz, Margarita S., Thiffault, Isabelle, Del Viso, Florencia, Devine, Patrick, Rego, Shannon, Tenney, Jessica, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Koene, Saskia, Robertson, Stephen P., Deshpande, Charulata, Pfundt, Rolph, Verbeek, Nienke, van de Kamp, Jiddeke M., Weiss, Janneke M.M., Ruiz, Anna, Gabau, Elisabeth, Banne, Ehud, Pepler, Alexander, Bottani, Armand, Laurent, Sacha, Guipponi, Michel, Bijlsma, Emilia, Bruel, Ange-Line, Sorlin, Arthur, Willis, Mary, Powis, Zoe, Smol, Thomas, Vincent-Delorme, Catherine, Baralle, Diana, Colin, Estelle, Revencu, Nicole, Calpena, Eduardo, Wilkie, Andrew O.M., Chopra, Maya, Cormier-Daire, Valerie, Keren, Boris, Afenjar, Alexandra, Niceta, Marcello, Terracciano, Alessandra, Specchio, Nicola, Tartaglia, Marco, Rio, Marlene, Barcia, Giulia, Rondeau, Sophie, Colson, Cindy, Bakkers, Jeroen, Mace, Peter D., Bicknell, Louise S., van Haaften, Gijs
Publicado 2022