Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.
Published in Cell death & disease (30.05.2024)
Published in Cell death & disease (30.05.2024)
Get full text
Journal Article
H2A monoubiquitination: insights from human genetics and animal models
Ryan, Charles W., Peirent, Emily R., Regan, Samantha L., Guxholli, Alba, Bielas, Stephanie L.
Published in Human genetics (01.04.2024)
Published in Human genetics (01.04.2024)
Get full text
Journal Article
Modeling primary microcephaly with human brain organoids reveals fundamental roles of CIT kinase activity
Pallavicini, Gianmarco, Moccia, Amanda, Iegiani, Giorgia, Parolisi, Roberta, Peirent, Emily R, Berto, Gaia Elena, Lorenzati, Martina, Tshuva, Rami Y, Ferraro, Alessia, Balzac, Fiorella, Turco, Emilia, Salvi, Shachi U, Myklebust, Hedvig F, Wang, Sophia, Eisenberg, Julia, Chitale, Maushmi, Girgla, Navjit S, Boda, Enrica, Reiner, Orly, Buffo, Annalisa, Di Cunto, Ferdinando, Bielas, Stephanie L
Published in The Journal of clinical investigation (01.11.2024)
Published in The Journal of clinical investigation (01.11.2024)
Get full text
Journal Article