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Journal article
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Lardelli, Rea M
Schaffer, Ashleigh E
Eggens, Veerle R C
Zaki, Maha S
Grainger, Stephanie
Sathe, Shashank
Van Nostrand, Eric L
Schlachetzki, Zinayida
Rosti, Basak
Akizu, Naiara
Scott, Eric
Silhavy, Jennifer L
Heckman, Laura Dean
Rosti, Rasim Ozgur
Dikoglu, Esra
Gregor, Anne
Guemez-Gamboa, Alicia
Musaev, Damir
Mande, Rohit
Widjaja, Ari
Shaw, Tim L
Markmiller, Sebastian
Marin-Valencia, Isaac
Davies, Justin H
de Meirleir, Linda
Kayserili, Hulya
Altunoglu, Umut
Freckmann, Mary Louise
Warwick, Linda
Chitayat, David
Blaser, Susan
Çağlayan, Ahmet Okay
Bilguvar, Kaya
Per, Huseyin
Fagerberg, Christina
Christesen, Henrik T
Kibaek, Maria
Aldinger, Kimberly A
Manchester, David
Matsumoto, Naomichi
Muramatsu, Kazuhiro
Saitsu, Hirotomo
Shiina, Masaaki
Ogata, Kazuhiro
Foulds, Nicola
Dobyns, William B
Chi, Neil C
Traver, David
Spaccini, Luigina
Bova, Stefania Maria
Gabriel, Stacey B
Gunel, Murat
Valente, Enza Maria
Nassogne, Marie-Cécile
[UCL]
Bennett, Eric J
Yeo, Gene W
Baas, Frank
Lykke-Andersen, Jens
Gleeson, Joseph G
(2017)
Nature Genetics — Vol. 49, no. 3, p. 457-464 (2017)