Regulatory de novo mutations underlying intellectual disability

por De Vas, Matias G, Boulet, Fanny, Joshi, Shweta S, Garstang, Myles G, Khan, Tahir N, Atla, Goutham, Parry, David, Moore, David, Cebola, Inês, Zhang, Shuchen, Cui, Wei, Lampe, Anne K, Lam, Wayne W, Ferrer, Jorge, Pradeepa, Madapura M, Atanur, Santosh S
Publicado 2023

Candidate variants in TUB are associated with familial tremor

por Sailani, M. Reza, Jahanbani, Fereshteh, Abbott, Charles W., Lee, Hayan, Zia, Amin, Rego, Shannon, Winkelmann, Juliane, Hopfner, Franziska, Khan, Tahir N., Katsanis, Nicholas, Müller, Stefanie H., Berg, Daniela, Lyman, Katherine M., Mychajliw, Christian, Deuschl, Günther, Bernstein, Jonathan A., Kuhlenbäumer, Gregor, Snyder, Michael P.
Publicado 2020

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 2019