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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2019

01-04-2019 | Letter to Editor

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency

Authors: Christopher M. Watson, Claire Stockdale, Ian Berry, Laura A. Crinnion, Ian M. Carr, Andrew Cant, David T. Bonthron, Sinisa Savic

Published in: Journal of Clinical Immunology | Issue 3/2019

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Excerpt

To the Editor: …
Appendix
Available only for authorised users
Literature
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Rae W, Ward D, Mattocks C, Pengelly RJ, Eren E, Patel SV, et al. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin Genet. 2018;93:647–55.CrossRefPubMed
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Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Exome aggregation consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.CrossRefPubMedPubMedCentral
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Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.CrossRefPubMedPubMedCentral
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Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2013;15:571–7.CrossRef
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Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.
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Ellingford JM, Beaman G, Webb K, O’Callaghan C, Hirst RA, on behalf of the 100,000 Genomes Project, Black GCM, Newman WG. Whole genome sequencing enables definitive diagnosis of Cystic Fibrosis and Primary Ciliary Dyskinesia. bioRxiv 2018;438838. https://​doi.​org/​10.​1101/​438838.
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Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017;9:386.CrossRef
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Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.
Metadata
Title
RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
Authors
Christopher M. Watson
Claire Stockdale
Ian Berry
Laura A. Crinnion
Ian M. Carr
Andrew Cant
David T. Bonthron
Sinisa Savic
Publication date
01-04-2019
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2019
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-019-00625-4

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