Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Abstract
On the Front Cover: This cover image is based on the Rapid Communication Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function by Atteeq U. Rehman et al., Pages 267–280. DOI: 10.1002/humu.23694.
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Two additional diagnoses were made by submitting novel gene candidates to GeneMatcher and matching them to multiple other cases in real time, which established novel gene-disease associations and enabled diagnostic reporting.
“Two further molecular diagnoses were made by submitting novel gene candidates to GeneMatcher 18 (an international data sharing platform) and matching to multiple other cases in real time, enabling establishment of novel genedisease associations and diagnostic reporting.19”
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Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA · doi:10.1001/jama.2020.7671 · Cited by 239 · see citing works
- Authors
- Rehman
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2019-03
- Volume
- 40
- Issue
- 3
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W4232139774
- Cited by
- 1
- References
- 0
- Citations by year
- 2020: 1
- Type
- paratext
- Language
- en
- Open access
- closed
- Locations
- Human Mutation (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular transport and secretion
- Keywords
- biallelic loss-of-function variants, neurodevelopmental syndrome
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