Funded Projects
SFARI Funded Publications
De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.
Ebstein F., Küry S., Most V., Rosenfelt C., Scott-Boyer M.-P., van Woerden G.M., Besnard T., Papendorf J.J., Studencka-Turski M., Wang T., Hsieh T.-C., Golnik R., Baldridge D., Forster C., de Konink C., Teurlings S.M.W., Vignard V., van Jaarsveld R.H., Ades L., Cogné B., Mignot C., Deb W., Jongmans M.C.J., Cole F.S., van den Boogaard M.-J.H., Wambach J.A., Wegner D.J., Yang S., Hannig V., Brault J.A., Zadeh N., Bennetts B., Keren B., Gélineau A.-C., Powis Z., Towne M., Bachman K., Seeley A., Beck A.E., Morrison J., Westman R., Averill K., Brunet T., Haasters J., Carter M.T., Osmond M., Wheeler P.G., Forzano F., Mohammed S., Trakadis Y., Accogli A., Harrison R., Deciphering Developmental Disorders Study, Care4Rare Canada Consortium, Rondeau S., Baujat G., Barcia G., Feichtinger R.G., Mayr J.A., Preisel M., Laumonnier F., Knaus A., Isidor B., Krawitz P., Völker U., Hammer E., Droit A., Eichler E., Elgersma Y., Hildebrand P.W., Bolduc F., Krüeger E., Bézieau S.
Adult Ube3a gene reinstatement restores the electrophysiological deficits of prefrontal cortex layer 5 neurons in a mouse model of Angelman syndrome.
Rotaru D.C., van Woerden G.M., Wallaard I., Elgersma Y.
UBE3A loss increases excitability and blunts orientation tuning in the visual cortex of Angelman syndrome model mice.
Wallace M.L., van Woerden G.M., Elgersma Y., Smith S.L., Philpot B.
