Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy

por Oja, Kaisa Teele, Ilisson, Mihkel, Reinson, Karit, Muru, Kai, Reimand, Tiia, Peterson, Hedi, Fishman, Dmytro, Esko, Tõnu, Haller, Toomas, Kronberg, Jaanika, Wojcik, Monica H., Kennedy, Adam, Michelotti, Gregory, O’Donnell-Luria, Anne, Õiglane-Šlik, Eve, Pajusalu, Sander, Õunap, Katrin
Publicado 2023

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

por Engal, Eden, Oja, Kaisa Teele, Maroofian, Reza, Geminder, Ophir, Le, Thuy-Linh, Mor, Evyatar, Tzvi, Naama, Elefant, Naama, Zaki, Maha S., Gleeson, Joseph G., Muru, Kai, Pajusalu, Sander, Wojcik, Monica H., Pachat, Divya, Elmaksoud, Marwa Abd, Jeong, Won Chan, Lee, Hane, Bauer, Peter, Zifarelli, Giovanni, Houlden, Henry, Elpeleg, Orly, Gordon, Chris, Harel, Tamar, Õunap, Katrin, Salton, Maayan, Mor-Shaked, Hagar
Publicado 2023

Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans

por Fletcher, Sally C., Hall, Charlotte, Kennedy, Tristan J., Pajusalu, Sander, Wojcik, Monica H., Boora, Uncaar, Li, Chan, Oja, Kaisa Teele, Hendrix, Eline, Westrip, Christian A.E., Andrijes, Regina, Piasecka, Sonia K., Singh, Mansi, El-Asrag, Mohammed E., Ptasinska, Anetta, Tillmann, Vallo, Higgs, Martin R., Carere, Deanna A., Beggs, Andrew D., Pappas, John, Rabin, Rachel, Smerdon, Stephen J., Stewart, Grant S., Õunap, Katrin, Coleman, Mathew L.
Publicado 2023