# Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/histone-h3-3-beyond-cancer-germline-mutations-in-i-histone-3-family-3a-and-3b-i/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Laura Bryant,Dong Li,Samuel G. Cox,Dylan M. Marchione,Evan F. Joiner,Khadija Wilson,Kevin A. Janssen,Pearl Lee,Michael March,Divya Nair,Elliott H. Sherr,Brieana Fregeau,Klaas J. Wierenga,Alexandrea Wadley,Grazia M.S. Mancini,Nina Powell‐Hamilton,Jiddeke van de Kamp,Theresa A. Grebe,John Dean,Alison Ross,Heather P. Crawford,Zöe Powis,Megan T. Cho,Marcia Willing,Linda Manwaring,Rachel Schot,Caroline Nava,Alexandra Afenjar,Davor Lessel,Matias Wagner,Thomas Klopstock,Juliane Winkelmann,Claudia B. Catarino,Kyle Retterer,Jane L. Schuette,Jeffrey W. Innis,Amy Pizzino,Sabine Lüttgen,Jonas Denecke,Tim M. Strom,Kristin G. Monaghan,DDD Study,Zuo‐Fei Yuan,Holly Dubbs,Renee Bend,Jennifer A. Lee,Michael J. Lyons,Julia Hoefele,Roman Günthner,Heiko Reutter,Boris Keren,Kelly Radtke,Omar Sherbini,Cameron Mrokse,Katherine L. Helbig,Sylvie Odent,Benjamin Cogné,Sandra Mercier,Stéphane Bezieau,Thomas Besnard,Sébastien Küry,Richard Redon,Karit Reinson,Monica H. Wojcik,Katrin Õunap,Pilvi Ilves,A. Micheil Innes,Kristin D. Kernohan,Gregory Costain,M. Stephen Meyn,David Chitayat,Elaine H. Zackai,Anna Lehman,Hilary Kitson,CAUSES Study,Martin G. Martin,Julián A. Martínez-Agosto,Undiagnosed Diseases Network,Stan F. Nelson,Christina G.S. Palmer,Jeanette C. Papp,Neil H. Parker,Janet S. Sinsheimer,Éric Vilain,Jijun Wan,Amanda J. Yoon,Allison Zheng,Elise Brimble,Giovanni Battista Ferrero,Francesca Clementina Radio,Diana Carli,Sabina Barresi,Alfredo Brusco,Marco Tartaglia,Jennifer Muncy Thomas,Luis A. Umaña,Marjan M. Weiss,Garrett Gotway,Kyra E. Stuurman,Michelle L. Thompson |
| Citations | 99 |
| DOI | 10.1126/sciadv.abc9207 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | gold |
| OA URL | https://www.science.org/doi/pdf/10.1126/sciadv.abc9207?download=true |
| OpenAlex ID | https://openalex.org/W3109333644 |
| PMID | 33268356 |
| Type | article |
| Year | 2020 |

## Paper authors

- [Matias Wagner](https://scholariq.org/researchers/matias-wagner/)

## Paper primary topic

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

## Paper topics

- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Epigenetics and DNA Methylation](https://scholariq.org/topics/epigenetics-and-dna-methylation/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)

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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.
