# CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/chd3-helicase-domain-mutations-cause-a-neurodevelopmental-syndrome-with/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Lot Snijders Blok,Justine Rousseau,Joanna Twist,Sophie Ehresmann,Motoki Takaku,Hanka Venselaar,Lance H. Rodan,C. Nowak,Jessica Douglas,Kathryn J. Swoboda,Marcie Steeves,Inderneel Sahai,Connie T. R. M. Stumpel,Alexander P.A. Stegmann,Patricia G. Wheeler,Marcia Willing,Elise Fiala,Aaina Kochhar,William T. Gibson,Ana S.A. Cohen,Ruky Agbahovbe,A. Micheil Innes,Ping Yee Billie Au,Julia Rankin,Ilse J. Anderson,Steven A. Skinner,Raymond J. Louie,Hannah Warren,Alexandra Afenjar,Boris Keren,Caroline Nava,Julien Buratti,Arnaud Isapof,Diana Rodriguez,Raymond Lewandowski,Jennifer Propst,Ton van Essen,Murim Choi,Sangmoon Lee,Jong‐Hee Chae,Susan Price,Rhonda E. Schnur,Ganka Douglas,Ingrid M. Wentzensen,Christiane Zweier,André Reis,Martin G. Bialer,Christine Moore,Marion Koopmans,Eva H. Brilstra,Glen R. Monroe,Koen L.I. van Gassen,Ellen van Binsbergen,Ruth Newbury‐Ecob,Lucy Bownass,Ingrid Bader,Johannes A. Mayr,Saskia B. Wortmann,Kathy J. Jakielski,Edythe A. Strand,Katja Kloth,Tatjana Bierhals,The DDD study,Jeremy F. McRae,Stephen Clayton,Tomas Fitzgerald,Joanna Kaplanis,Elena Prigmore,Diana Rajan,Alejandro Sifrim,Stuart Aitken,Nadia Akawi,Mohsan Alvi,Kirsty Ambridge,Daniel M. Barrett,Tanya Bayzetinova,Philip Jones,Wendy D Jones,Daniel King,Netravathi Krishnappa,Laura E. Mason,Tarjinder Singh,Adrian R. Tivey,Munaza Ahmed,Uruj Anjum,Hayley Archer,Ruth Armstrong,Jana Awada,Meena Balasubramanian,Siddharth Banka,Diana Baralle,Angela Barnicoat,Paul Batstone,David Baty,Chris Bennett,Jonathan Berg,Birgitta Bernhard,A. Paul Bevan,Maria Bitner‐Glindzicz,E Blair |
| Citations | 123 |
| DOI | 10.1038/s41467-018-06014-6 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | gold |
| OA URL | https://www.nature.com/articles/s41467-018-06014-6.pdf |
| OpenAlex ID | https://openalex.org/W2899420465 |
| PMID | 30397230 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Jong‐Hee Chae](https://scholariq.org/researchers/jong-hee-chae/)

## Paper journal

- [Nature Communications](https://scholariq.org/journals/nature-communications/)

## Paper primary topic

- [Chromatin Remodeling and Cancer](https://scholariq.org/topics/chromatin-remodeling-and-cancer/)

## Paper topics

- [Chromatin Remodeling and Cancer](https://scholariq.org/topics/chromatin-remodeling-and-cancer/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)
- [Genomics and Chromatin Dynamics](https://scholariq.org/topics/genomics-and-chromatin-dynamics/)

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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.