Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophreniaSirp, Alex; Roots, Kaisa; Nurm, Kaja; Tuvikene, Jürgen; Sepp, Mari; Timmusk, TõnisThe journal of biological chemistry2021 / art. 101381 https://doi.org/10.1016/j.jbc.2021.101381 Journal metrics at Scopus Article at Scopus Journal metrics at WOS Article at WOS

The intellectual disability and schizophrenia associated transcription factor TCF4 is regulated by neuronal activity and protein kinase ASepp, Mari; Vihma, Hanna; Nurm, Kaja; Urb, Mari; Page, Stephanie Cerceo; Roots, Kaisa; Hark, Anu; Maher, Brady J.; Pruunsild, Priit; Timmusk, TõnisJournal of neuroscience2017 / p. 10516-10527 : ill https://doi.org/10.1523/JNEUROSCI.1151-17.2017

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterlessTamberg, Laura; Sepp, Mari; Timmusk, Tõnis; Palgi, MariBiology open2015 / p. 1762-1771 : ill http://dx.doi.org/10.1242/bio.014696

Introducing Pitt-Hopkins Syndrome-associated mutations of TCF4 to Drosophila daughterless : [conference paper]Palgi, Mari; Tamberg, Laura; Timmusk, TõnisVI Baltic Genetics Congress : September 30 - October 3, 2015, Institute of Molecular and Cell Biology, Tartu, Estonia : book of abstracts2015 / 1 p

Partial deletion of TCF4 in three generation family with nonsyndromic intellectual disability, without features of Pitt-Hopkins syndromeKharbanda, Mira; Kannike, Kaja; Lampe, Anne; Berg, Jonathan; Timmusk, Tõnis; Sepp, MariEuropean journal of medical genetics2016 / p. 310-314 : ill http://dx.doi.org/10.1016/j.ejmg.2016.04.003