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

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/biallelic-mutations-in-the-3-exonuclease-toe1-cause-pontocerebellar-hypoplasia/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Rea M. Lardelli,Ashleigh E. Schaffer,Veerle Rc Eggens,Maha S. Zaki,Stephanie Grainger,Shashank Sathe,Eric L. Van Nostrand,Zinayida Schlachetzki,Başak Rosti,Naiara Akizu,Eric Scott,Jennifer L. Silhavy,Laura D. Heckman,Rasim Özgür Rosti,Esra Dikoglu,Anne Gregor,Alicia Guemez‐Gamboa,Damir Musaev,Rohit Mande,Ari Widjaja,Timothy Shaw,Sebastian Markmiller,Isaac Marin‐Valencia,Justin H. Davies,Linda De Meırleır,Hülya Kayserili,Umut Altunoğlu,Mary Louise Freckmann,Linda Warwick,David Chitayat,Susan Blasér,Ahmet Okay Çağlayan,Kaya Bilgüvar,Hüseyin Per,Christina Fagerberg,Henrik Thybo Christesen,Maria Kibæk,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 Günel,Enza Maria Valente,Marie‐Cécile Nassogne,Eric J. Bennett,G Yeo,Frank Baas,Jens Lykke‐Andersen,Joseph G. Gleeson |
| Citations | 106 |
| DOI | 10.1038/ng.3762 |
| Fields | Biochemistry, Genetics and Molecular Biology,Medicine |
| Open Access | true |
| OA Status | green |
| OA URL | https://pure.amsterdamumc.nl/files/159159569/Biallelic-mutations-in-the-3-exonuclease-toe1-cause-pontocerebellar-hypoplasia-and-uncover-a-role-in-snrna-processing.pdf |
| OpenAlex ID | https://openalex.org/W2578261095 |
| PMID | 28092684 |
| Type | article |
| Year | 2017 |

## Paper authors

- [Henrik Thybo Christesen](https://scholariq.org/researchers/henrik-thybo-christesen/)

## Paper primary topic

- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)

## Paper topics

- [Fetal and Pediatric Neurological Disorders](https://scholariq.org/topics/fetal-and-pediatric-neurological-disorders/)
- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)
- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.