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

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

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

gan 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.
Cyhoeddwyd 2010

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

gan 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
Cyhoeddwyd yn Oncotarget (2016)

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

gan 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.
Cyhoeddwyd yn Nat Commun (2015)

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

gan 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.
Cyhoeddwyd yn Stem Cell Reports (2018)

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

gan 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.
Cyhoeddwyd yn Stem Cell Reports (2019)