{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:40:11Z","timestamp":1740123611877,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T00:00:00Z","timestamp":1554076800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T00:00:00Z","timestamp":1554076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/M009084\/1"],"award-info":[{"award-number":["MR\/M009084\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Clin Immunol"],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1007\/s10875-019-00625-4","type":"journal-article","created":{"date-parts":[[2019,4,16]],"date-time":"2019-04-16T01:30:37Z","timestamp":1555378237000},"page":"270-273","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency"],"prefix":"10.1007","volume":"39","author":[{"given":"Christopher M.","family":"Watson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Stockdale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura A.","family":"Crinnion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian M.","family":"Carr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Cant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David T.","family":"Bonthron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7910-0554","authenticated-orcid":false,"given":"Sinisa","family":"Savic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2019,4,16]]},"reference":[{"key":"625_CR1","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/s13023-018-0807-5","volume":"13","author":"AM Flinn","year":"2018","unstructured":"Flinn AM, Gennery AR. Adenosine deaminase deficiency: a review. Orphanet J Rare Dis. 2018;13:65.","journal-title":"Orphanet J Rare Dis"},{"key":"625_CR2","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1111\/cge.13163","volume":"93","author":"W Rae","year":"2018","unstructured":"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\u201355.","journal-title":"Clin Genet"},{"key":"625_CR3","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","volume":"536","author":"M Lek","year":"2016","unstructured":"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\u201391.","journal-title":"Nature"},{"key":"625_CR4","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"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\u201324.","journal-title":"Genet Med"},{"key":"625_CR5","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1016\/S0952-7915(03)00104-3","volume":"15","author":"MS Hershfield","year":"2013","unstructured":"Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2013;15:571\u20137.","journal-title":"Curr Opin Immunol"},{"key":"625_CR6","first-page":"30204","volume":"S0167-7799","author":"A Ameur","year":"2018","unstructured":"Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.","journal-title":"Trends Biotechnol"},{"key":"625_CR7","unstructured":"Department of Health and Social Care. Matt Hancock announces ambition to map 5 million genomes. \n                    https:\/\/www.gov.uk\/government\/news\/matt-hancock-announces-ambition-to-map-5-million-genomes\n                    \n                  . Last accessed: 29th October 2018."},{"key":"625_CR8","doi-asserted-by":"publisher","unstructured":"Ellingford JM, Beaman G, Webb K, O\u2019Callaghan 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. \n                    https:\/\/doi.org\/10.1101\/438838\n                    \n                  .","DOI":"10.1101\/438838"},{"key":"625_CR9","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1126\/scitranslmed.aal5209","volume":"9","author":"BB Cummings","year":"2017","unstructured":"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.","journal-title":"Sci Transl Med"},{"key":"625_CR10","first-page":"30204","volume":"S0167-7799","author":"A Ameur","year":"2018","unstructured":"Ameur A, Kloosterman WP, Hestand MS. Single-molecule sequencing: towards clinical applications. Trends Biotechnol. 2018;S0167-7799:30204.","journal-title":"Trends Biotechnol"}],"container-title":["Journal of Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-019-00625-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10875-019-00625-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10875-019-00625-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T09:54:41Z","timestamp":1589882081000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10875-019-00625-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,4]]}},"alternative-id":["625"],"URL":"https:\/\/doi.org\/10.1007\/s10875-019-00625-4","relation":{},"ISSN":["0271-9142","1573-2592"],"issn-type":[{"type":"print","value":"0271-9142"},{"type":"electronic","value":"1573-2592"}],"subject":[],"published":{"date-parts":[[2019,4]]},"assertion":[{"value":"24 November 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 April 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclosure of Potential Conflict of Interest"}},{"value":"The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Disclaimer"}}]}}