De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis-Reference-Cited by-同舟云学术

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

Published:2023-05 Issue:5 Volume:110 Page:846-862
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Timberlake Andrew T.^ORCID,McGee Stephen,Allington Garrett,Kiziltug Emre,Wolfe Erin M.,Stiegler Amy L.,Boggon Titus J.,Sanyoura May,Morrow Michelle,Wenger Tara L.,Fernandes Erica M.,Caluseriu Oana,Persing John A.,Jin Sheng Chih,Lifton Richard P.,Kahle Kristopher T.,Kruszka Paul

Funder

Wellcome Trust

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference60 articles.

1. Genetics of nonsyndromic craniosynostosis;Timberlake;Plast. Reconstr. Surg.,2018

2. A genetic-pathophysiological framework for craniosynostosis;Twigg;Am. J. Hum. Genet.,2015

3. Skeletal stem and progenitor cells maintain cranial suture patency and prevent craniosynostosis;Menon;Nat. Commun.,2021

4. Clinical genetics of craniosynostosis;Wilkie;Curr. Opin. Pediatr.,2017

5. Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis;Timberlake;Proc. Natl. Acad. Sci. USA,2019

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