• 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 https://www.scopus.com/sourceid/17592 https://www.scopus.com/record/display.uri?eid=2-s2.0-85120786755&origin=inward&txGid=2a0e0ea8f34df3f954eb5a2f4f4332a6 https://jcr.clarivate.com/jcr-jp/journal-profile?journal=J%20BIOL%20CHEM&year=2022 https://www.webofscience.com/wos/woscc/full-record/WOS:000748311800006
• 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 https://www.scopus.com/sourceid/16764 https://www.scopus.com/record/display.uri?eid=2-s2.0-85032376205&origin=inward&txGid=2ec7b1a903971f17f293c42510158560 https://jcr.clarivate.com/jcr-jp/journal-profile?journal=J%20NEUROSCI&year=2023 https://www.webofscience.com/wos/woscc/full-record/WOS:000490188200001
• Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterlessTamberg, Laura; Sepp, Mari; Timmusk, Tõnis; Palgi, MariBiology open2015 / p. 1762-1771 : ill https://doi.org/10.1242/bio.014696 https://www.scopus.com/sourceid/21100444312 https://www.scopus.com/record/display.uri?eid=2-s2.0-84982062952&origin=inward&txGid=6e51549ff4d6d8358d6530e24916e7f4 https://jcr.clarivate.com/jcr-jp/journal-profile?journal=BIOL%20OPEN&year=2015 https://www.webofscience.com/wos/woscc/full-record/WOS:000366672900019
• 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 https://doi.org/10.1016/j.ejmg.2016.04.003 https://www.scopus.com/sourceid/130005 https://www.scopus.com/record/display.uri?eid=2-s2.0-84965107362&origin=inward&txGid=a51098827b195e12d6d60362875869a5 https://jcr.clarivate.com/jcr-jp/journal-profile?journal=EUR%20J%20MED%20GENET&year=2016 https://www.webofscience.com/wos/woscc/full-record/WOS:000377414700002