The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers

por Estruch, Sara B., Graham, Sarah A., Deriziotis, Pelagia, Fisher, Simon E.
Publicado 2016

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

por Estruch, Sara B., Graham, Sarah A., Chinnappa, Swathi M., Deriziotis, Pelagia, Fisher, Simon E.
Publicado 2016

The Oncoprotein BCL11A Binds to Orphan Nuclear Receptor TLX and Potentiates its Transrepressive Function

por Estruch, Sara B., Buzón, Víctor, Carbó, Laia R., Schorova, Lenka, Lüders, Jens, Estébanez-Perpiñá, Eva
Publicado 2012

Functional characterization of TBR1 variants in neurodevelopmental disorder

por den Hoed, Joery, Sollis, Elliot, Venselaar, Hanka, Estruch, Sara B., Deriziotis, Pelagia, Fisher, Simon E.
Publicado 2018

Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family

por Carrion-Castillo, Amaia, Estruch, Sara B., Maassen, Ben, Franke, Barbara, Francks, Clyde, Fisher, Simon E.
Publicado 2021

Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions

por Sollis, Elliot, den Hoed, Joery, Quevedo, Marti, Estruch, Sara B, Vino, Arianna, Dekkers, Dick H W, Demmers, Jeroen A A, Poot, Raymond, Deriziotis, Pelagia, Fisher, Simon E
Publicado 2022

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

por Dias, Cristina, Estruch, Sara B., Graham, Sarah A., McRae, Jeremy, Sawiak, Stephen J., Hurst, Jane A., Joss, Shelagh K., Holder, Susan E., Morton, Jenny E.V., Turner, Claire, Thevenon, Julien, Mellul, Kelly, Sánchez-Andrade, Gabriela, Ibarra-Soria, Ximena, Deriziotis, Pelagia, Santos, Rui F., Lee, Song-Choon, Faivre, Laurence, Kleefstra, Tjitske, Liu, Pentao, Hurles, Mathew E., Fisher, Simon E., Logan, Darren W.
Publicado 2016