Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

por Paolini, Nahuel A., Moore, Kat S., di Summa, Franca M., Fokkema, Ivo F. A. C., ‘t Hoen, Peter A. C., von Lindern, Marieke
Publicado en PLoS One (2018)

The KAT6B-related disorders Genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

por Campeau, Philippe M, Lu, James T, Dawson, Brian C, Fokkema, Ivo F A C, Robertson, Stephen P, Gibbs, Richard A, Lee, Brendan H
Publicado 2012

Therapeutic exon skipping for dysferlinopathies?

por Aartsma-Rus, Annemieke, Singh, Kavita H K, Fokkema, Ivo F A C, Ginjaar, Ieke B, van Ommen, Gert-Jan, Dunnen, Johan T den, van der Maarel, Silvère M
Publicado 2010

Assessing the translational landscape of myogenic differentiation by ribosome profiling

por de Klerk, Eleonora, Fokkema, Ivo F.A.C., Thiadens, Klaske A.M.H., Goeman, Jelle J., Palmblad, Magnus, den Dunnen, Johan T., von Lindern, Marieke, ‘t Hoen, Peter A.C.
Publicado en Nucleic Acids Res (2015)

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

por Fokkema, Ivo F. A. C., van der Velde, Kasper J., Slofstra, Mariska K., Ruivenkamp, Claudia A. L., Vogel, Maartje J., Pfundt, Rolph, Blok, Marinus J., Lekanne Deprez, Ronald H., Waisfisz, Quinten, Abbott, Kristin M., Sinke, Richard J., Rahman, Rubayte, Nijman, Isaäc J., de Koning, Bart, Thijs, Gert, Wieskamp, Nienke, Moritz, Ruben J. G., Charbon, Bart, Saris, Jasper J., den Dunnen, Johan T., Laros, Jeroen F. J., Swertz, Morris A., van Gijn, Marielle E.
Publicado en Hum Mutat (2019)