- 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