Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Rea M. Lardelli, Ashleigh E. Schaffer, Veerle R.C. Eggens, Maha S. Zaki, Stephanie Grainger, Shashank Sathe, Eric L. Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L. Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari WidjajaTim L. Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H. Davies, Linda De Meirleir, Hulya Kayserili, Umut Altunoglu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Ça Layan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T. Christesen, Maria Kibaek, Kimberly A. Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B. Dobyns, Neil C. Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B. Gabriel, Murat Gunel, Enza Maria Valente, Marie Cecile Nassogne, Eric J. Bennett, Gene W. Yeo, Frank Baas, Jens Lykke-Andersen, Joseph G. Gleeson

Research output: Contribution to journal › Article › peer-review

62 Scopus citations

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