Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

por Khan, Kamal, Zech, Michael, Morgan, Angela T., Amor, David J., Skorvanek, Matej, Khan, Tahir N., Hildebrand, Michael S., Jackson, Victoria E., Scerri, Thomas S., Coleman, Matthew, Rigbye, Kristin A., Scheffer, Ingrid E., Bahlo, Melanie, Wagner, Matias, Lam, Daniel D., Berutti, Riccardo, Havránková, Petra, Fečíková, Anna, Strom, Tim M., Han, Vladimir, Dosekova, Petra, Gdovinova, Zuzana, Laccone, Franco, Jameel, Muhammad, Mooney, Marie R., Baig, Shahid M., Jech, Robert, Davis, Erica E., Katsanis, Nicholas, Winkelmann, Juliane
Publicado en Genet Med (2019)

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

por Hildebrand, Joanne M., Kauppi, Maria, Majewski, Ian J., Liu, Zikou, Cox, Allison J., Miyake, Sanae, Petrie, Emma J., Silk, Michael A., Li, Zhixiu, Tanzer, Maria C., Brumatti, Gabriela, Young, Samuel N., Hall, Cathrine, Garnish, Sarah E., Corbin, Jason, Stutz, Michael D., Di Rago, Ladina, Gangatirkar, Pradnya, Josefsson, Emma C., Rigbye, Kristin, Anderton, Holly, Rickard, James A., Tripaydonis, Anne, Sheridan, Julie, Scerri, Thomas S., Jackson, Victoria E., Czabotar, Peter E., Zhang, Jian-Guo, Varghese, Leila, Allison, Cody C., Pellegrini, Marc, Tannahill, Gillian M., Hatchell, Esme C., Willson, Tracy A., Stockwell, Dina, de Graaf, Carolyn A., Collinge, Janelle, Hilton, Adrienne, Silke, Natasha, Spall, Sukhdeep K., Chau, Diep, Athanasopoulos, Vicki, Metcalf, Donald, Laxer, Ronald M., Bassuk, Alexander G., Darbro, Benjamin W., Fiatarone Singh, Maria A., Vlahovich, Nicole, Hughes, David, Kozlovskaia, Maria, Ascher, David B., Warnatz, Klaus, Venhoff, Nils, Thiel, Jens, Biben, Christine, Blum, Stefan, Reveille, John, Hildebrand, Michael S., Vinuesa, Carola G., McCombe, Pamela, Brown, Matthew A., Kile, Benjamin T., McLean, Catriona, Bahlo, Melanie, Masters, Seth L., Nakano, Hiroyasu, Ferguson, Polly J., Murphy, James M., Alexander, Warren S., Silke, John
Publicado en Nat Commun (2020)