Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
ContributorsMay, Halie J; Jeong, Jaehoon; Revah-Politi, Anya; Cohen, Julie S; Chassevent, Anna; Baptista, Julia![orcid](assets/images/orcid.png)
; Baugh, Evan H; Bier, Louise; Bottani, Armand; Carminho Amaro Rodrigues, Maria Teresa; Conlon, Charles; Fluss, Joel Victor; Guipponi, Michel; Kim, Chong Ae; Matsumoto, Naomichi; Person, Richard; Primiano, Michelle; Rankin, Julia; Shinawi, Marwan![orcid](assets/images/orcid.png)
; Smith-Hicks, Constance; Telegrafi, Aida; Toy, Samantha; Uchiyama, Yuri; Aggarwal, Vimla; Goldstein, David B; Roche, Katherine W; Anyane-Yeboa, Kwame
![orcid](assets/images/orcid.png)
![orcid](assets/images/orcid.png)
Published inGenetics in medicine, vol. 23, no. 10, p. 1912-1921
First online date2021-06-10
Abstract
Keywords
- HEK293 Cells
- Humans
- Nerve Tissue Proteins / genetics
- Neurodevelopmental Disorders / genetics
- Neurons
- Phenotype
- Exome Sequencing
Citation (ISO format)
MAY, Halie J et al. Truncating variants in the <i>SHANK1</i> gene are associated with a spectrum of neurodevelopmental disorders. In: Genetics in medicine, 2021, vol. 23, n° 10, p. 1912–1921. doi: 10.1038/s41436-021-01222-w
Main files (1)
Article (Accepted version)
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Secondary files (1)
Identifiers
- PID : unige:170941
- DOI : 10.1038/s41436-021-01222-w
- PMID : 34113010
- PMCID : PMC8487955
Commercial URLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487955/
ISSN of the journal1098-3600