{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:15:11Z","timestamp":1775308511333,"version":"3.50.1"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T00:00:00Z","timestamp":1601337600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T00:00:00Z","timestamp":1601337600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100015652","name":"Barts Charity","doi-asserted-by":"crossref","award":["Large Project Grant (MRC0161)"],"award-info":[{"award-number":["Large Project Grant (MRC0161)"]}],"id":[{"id":"10.13039\/100015652","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100011218","name":"Sandoz","doi-asserted-by":"publisher","award":["Research Grant"],"award-info":[{"award-number":["Research Grant"]}],"id":[{"id":"10.13039\/100011218","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010381","name":"European Society for Paediatric Endocrinology","doi-asserted-by":"publisher","award":["2018 ESPE Research Fellowship"],"award-info":[{"award-number":["2018 ESPE Research Fellowship"]}],"id":[{"id":"10.13039\/100010381","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Endocrinol Invest"],"published-print":{"date-parts":[[2021,6]]},"DOI":"10.1007\/s40618-020-01433-z","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T21:03:14Z","timestamp":1601413394000},"page":"1331-1334","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome"],"prefix":"10.1007","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6773-6547","authenticated-orcid":false,"given":"E.","family":"Cottrell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1348-9055","authenticated-orcid":false,"given":"T.","family":"Ladha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4932-1983","authenticated-orcid":false,"given":"H.","family":"Borysewicz-Sa\u0144czyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7156-2869","authenticated-orcid":false,"given":"B.","family":"Sawicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7902-3376","authenticated-orcid":false,"given":"M. O.","family":"Savage","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6316-5342","authenticated-orcid":false,"given":"A. T.","family":"Bossowski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9963-1931","authenticated-orcid":false,"given":"H. L.","family":"Storr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,9,29]]},"reference":[{"key":"1433_CR1","doi-asserted-by":"publisher","first-page":"1872","DOI":"10.1002\/ajmg.a.40374","volume":"176","author":"C Cunniff","year":"2018","unstructured":"Cunniff C, Djavid AR, Carrubba S et al (2018) Health supervision for people with Bloom syndrome. Am J Med Genet Part A 176:1872\u20131881. https:\/\/doi.org\/10.1002\/ajmg.a.40374","journal-title":"Am J Med Genet Part A"},{"key":"1433_CR2","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1097\/00005792-199311000-00003","volume":"72","author":"J German","year":"1993","unstructured":"German J (1993) Bloom syndrome: a Mendelian prototype of somatic mutational disease. Medicine (Baltimore) 72:393\u2013406","journal-title":"Medicine (Baltimore)"},{"key":"1433_CR3","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1586\/14737159.4.3.393","volume":"4","author":"H Kaneko","year":"2004","unstructured":"Kaneko H, Kondo N (2004) Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. Expert Rev Mol Diagn 4:393\u2013401. https:\/\/doi.org\/10.1586\/14737159.4.3.393","journal-title":"Expert Rev Mol Diagn"},{"key":"1433_CR4","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1002\/humu.20501","volume":"28","author":"J German","year":"2007","unstructured":"German J, Sanz MM, Ciocci S et al (2007) Syndrome-causing mutations of the BLM gene in persons in the Bloom\u2019s Syndrome Registry. Hum Mutat 28:743\u2013753. https:\/\/doi.org\/10.1002\/humu.20501","journal-title":"Hum Mutat"},{"key":"1433_CR5","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1530\/EJE-17-0453","volume":"177","author":"L Shapiro","year":"2017","unstructured":"Shapiro L, Chatterjee S, Ramadan DG et al (2017) (2017) Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Eur J Endocrinol 177:485\u2013501","journal-title":"Eur J Endocrinol"},{"key":"1433_CR6","doi-asserted-by":"publisher","first-page":"3932","DOI":"10.1210\/jc.2013-2491","volume":"98","author":"JS Renes","year":"2013","unstructured":"Renes JS, Willemsen RH, Wagner A et al (2013) Bloom syndrome in short children born small for gestational age: a challenging diagnosis. J Clin Endocrinol Metab 98: https:\/\/doi.org\/10.1210\/jc.2013-2491","journal-title":"J Clin Endocrinol Metab"}],"container-title":["Journal of Endocrinological Investigation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-020-01433-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s40618-020-01433-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s40618-020-01433-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,29]],"date-time":"2021-09-29T00:16:40Z","timestamp":1632874600000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s40618-020-01433-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,29]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["1433"],"URL":"https:\/\/doi.org\/10.1007\/s40618-020-01433-z","relation":{},"ISSN":["1720-8386"],"issn-type":[{"value":"1720-8386","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,9,29]]},"assertion":[{"value":"24 July 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 September 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 September 2020","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 have no conflicts of interest or competing interests to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The study was approved by the Health Research Authority, East of England\u2014Cambridge East Research Ethics Committee (REC reference: 17\/EE\/0178).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Informed written consent for genetic research was obtained from the parent of this patient.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Informed written consent for publication of clinical details was obtained from the parent of this patient.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"Bioinformatics filtering pipeline, ABI files from Sanger sequencing and VCF\/BAM files from whole exome sequencing available upon request.","order":6,"name":"Ethics","group":{"name":"EthicsHeading","label":"Availability of data and material (data transparency)"}}]}}