# Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/assessing-the-landscape-of-i-stxbp1-i-related-disorders-in-534-individuals/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Julie Xian,Shridhar Parthasarathy,Sarah M. Ruggiero,Ganna Balagura,Eryn Fitch,Katherine L. Helbig,Jing Gan,Shiva Ganesan,Michael C. Kaufman,Colin A. Ellis,David Lewis‐Smith,Peter D. Galer,Kristin Cunningham,Margaret O’Brien,Mahgenn Cosico,Kate Baker,Alejandra Darling,Fernanda Veiga de Góes,Christelle Moufawad El Achkar,Jan H Doering,Francesca Furia,Ángeles García‐Cazorla,Elena Gardella,Lisa Geertjens,Courtney Klein,Anna Kolesnik,Hanna C. A. Lammertse,Jeehun Lee,Alexandra T. Mackie,Mala Misra‐Isrie,Heather E. Olson,Emma Sexton,Beth Rosen Sheidley,Lacey Smith,Luiza Sotero,Hannah Stamberger,Steffen Syrbe,Kim Marie Thalwitzer,Annemiek A. van Berkel,Mieke M. van Haelst,Christopher J. Yuskaitis,Sarah Weckhuysen,Benjamin L. Prosser,Charlene Son Rigby,Scott Demarest,Samuel R. Pierce,Yuehua Zhang,Rikke S. Møller,Hilgo Bruining,Annapurna Poduri,Federico Zara,Matthijs Verhage,Pasquale Striano,Ingo Helbig |
| Citations | 128 |
| DOI | 10.1093/brain/awab327 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | hybrid |
| OA URL | https://academic.oup.com/brain/article-pdf/145/5/1668/43948400/awab327.pdf |
| OpenAlex ID | https://openalex.org/W4206071515 |
| PMID | 35190816 |
| Type | article |
| Year | 2021 |

## Paper authors

- [Jeehun Lee](https://scholariq.org/researchers/jeehun-lee/)

## Paper journal

- [Brain](https://scholariq.org/journals/brain/)

## Paper primary topic

- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)

## Paper topics

- [RNA regulation and disease](https://scholariq.org/topics/rna-regulation-and-disease/)
- [Connexins and lens biology](https://scholariq.org/topics/connexins-and-lens-biology/)
- [Endoplasmic Reticulum Stress and Disease](https://scholariq.org/topics/endoplasmic-reticulum-stress-and-disease/)

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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.