Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities-Reference-Cited by-同舟云学术

Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Published:2019-11-12 Issue:3 Volume:70 Page:320-327
ISSN:0895-8696
Container-title:Journal of Molecular Neuroscience
language:en
Short-container-title:J Mol Neurosci

Author:

Ben-Mahmoud Afif,Al-Shamsi Aisha M.,Ali Bassam R.,Al-Gazali Lihadh^ORCID

Funder

College of Medicine and Health Sciences, United Arab Emirates University

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s12031-019-01415-8.pdf

Reference25 articles.

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3. Depristo MA, Banks E, Poplin R et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43:491–501. https://doi.org/10.1038/ng.806

4. Dolan M, Mendelsohn NJ, Pierpont ME, Schimmenti LA, Berry SA, Hirsch B (2010) A novel microdeletion/microduplication syndrome of 19p13.13. Genet Med 12:503–511. https://doi.org/10.1097/GIM.0b013e3181e59291

5. Garland P, Quraishe S, French P, O’Connor V (2008) Expression of the MAST family of serine/threonine kinases. Brain Res 1195:12–19. https://doi.org/10.1016/j.brainres.2007.12.027

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