TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

por Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan
Publicado 2020

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum

por Serpieri, Valentina, D’Abrusco, Fulvio, Dempsey, Jennifer C, Cheng, Yong-Han Hank, Arrigoni, Filippo, Baker, Janice, Battini, Roberta, Bertini, Enrico Silvio, Borgatti, Renato, Christman, Angela K, Curry, Cynthia, D'Arrigo, Stefano, Fluss, Joel, Freilinger, Michael, Gana, Simone, Ishak, Gisele E, Leuzzi, Vincenzo, Loucks, Hailey, Manti, Filippo, Mendelsohn, Nancy, Merlini, Laura, Miller, Caitlin V, Muhammad, Ansar, Nuovo, Sara, Romaniello, Romina, Schmidt, Wolfgang, Signorini, Sabrina, Siliquini, Sabrina, Szczałuba, Krzysztof, Vasco, Gessica, Wilson, Meredith, Zanni, Ginevra, Boltshauser, Eugen, Doherty, Dan, Valente, Enza Maria
Publicado 2022