A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

por Dinur Schejter, Yael, Ovadia, Adi, Alexandrova, Roumiana, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Manson, David E., Vincent, Ajoy, Merico, Daniele, Roifman, Chaim M.
Publicado en NPJ Genom Med (2017)

HUNK suppresses metastasis of basal type breast cancers by disrupting the interaction between PP2A and cofilin-1

por Quintela-Fandino, Miguel, Arpaia, Enrico, Brenner, Dirk, Goh, Theo, Yeung, Faith Au, Blaser, Heiko, Alexandrova, Roumiana, Lind, Evan F., Tusche, Mike W., Wakeham, Andrew, Ohashi, Pamela S., Mak, Tak W.
Publicado 2010

Transcriptome-wide characterization of the endogenous miR-34A-p53 tumor suppressor network

por Samuel, Nardin, Wilson, Gavin, Said, Badr Id, Pan, Anna, Deblois, Genevieve, Fischer, Nicholas W., Alexandrova, Roumiana, Casallo, Guillermo, Paton, Tara, Lupien, Mathieu, Gariepy, Jean, Merico, Daniele, Hudson, Thomas J., Malkin, David
Publicado en Oncotarget (2016)

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

por Merico, Daniele, Roifman, Maian, Braunschweig, Ulrich, Yuen, Ryan K. C., Alexandrova, Roumiana, Bates, Andrea, Reid, Brenda, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, Gray, Paul, Kakakios, Alyson, Peake, Jane, Hogarth, Stephanie, Manson, David, Buncic, Raymond, Pereira, Sergio L., Herbrick, Jo-Anne, Blencowe, Benjamin J., Roifman, Chaim M., Scherer, Stephen W.
Publicado en Nat Commun (2015)

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

por Deneault, Eric, White, Sean H., Rodrigues, Deivid C., Ross, P. Joel, Faheem, Muhammad, Zaslavsky, Kirill, Wang, Zhuozhi, Alexandrova, Roumiana, Pellecchia, Giovanna, Wei, Wei, Piekna, Alina, Kaur, Gaganjot, Howe, Jennifer L., Kwan, Vickie, Thiruvahindrapuram, Bhooma, Walker, Susan, Lionel, Anath C., Pasceri, Peter, Merico, Daniele, Yuen, Ryan K.C., Singh, Karun K., Ellis, James, Scherer, Stephen W.
Publicado en Stem Cell Reports (2018)

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

por Deneault, Eric, White, Sean H., Rodrigues, Deivid C., Ross, P. Joel, Faheem, Muhammad, Zaslavsky, Kirill, Wang, Zhuozhi, Alexandrova, Roumiana, Pellecchia, Giovanna, Wei, Wei, Piekna, Alina, Kaur, Gaganjot, Howe, Jennifer L., Kwan, Vickie, Thiruvahindrapuram, Bhooma, Walker, Susan, Lionel, Anath C., Pasceri, Peter, Merico, Daniele, Yuen, Ryan K.C., Singh, Karun K., Ellis, James, Scherer, Stephen W.
Publicado en Stem Cell Reports (2019)