{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T15:40:05Z","timestamp":1775058005018,"version":"3.50.1"},"reference-count":31,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["2017SHZDZX01"],"award-info":[{"award-number":["2017SHZDZX01"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["20Z11900600"],"award-info":[{"award-number":["20Z11900600"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002855","name":"Ministry of Science and Technology of the People&apos;s Republic of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002855","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation","doi-asserted-by":"publisher","award":["2020M681176"],"award-info":[{"award-number":["2020M681176"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007219","name":"Shanghai Municipal Natural Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jmdjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Molecular Diagnostics"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1016\/j.jmoldx.2022.09.002","type":"journal-article","created":{"date-parts":[[2022,9,24]],"date-time":"2022-09-24T01:58:26Z","timestamp":1663984706000},"page":"1240-1253","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Overcoming the Pitfalls of Next-Generation Sequencing\u2013Based Molecular Diagnosis of Shwachman-Diamond Syndrome"],"prefix":"10.1016","volume":"24","author":[{"given":"Xiaomin","family":"Peng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinran","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaqiong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingbing","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feifan","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4941-5736","authenticated-orcid":false,"given":"Yulan","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jmoldx.2022.09.002_bib1","series-title":"Shwachman-Diamond Syndrome","author":"Farooqui","year":"2021"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib2","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1159\/000055858","article-title":"Shwachman-Diamond syndrome: clinical phenotypes","volume":"1","author":"Cipolli","year":"2001","journal-title":"Pancreatology"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib3","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s40291-018-0368-2","article-title":"Shwachman-Diamond syndrome: molecular mechanisms and current perspectives","volume":"23","author":"Bezzerri","year":"2019","journal-title":"Mol Diagn Ther"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib4","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1016\/j.bbmt.2020.04.029","article-title":"Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome","volume":"26","author":"Myers","year":"2020","journal-title":"Biol Blood Marrow Transplant"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib5","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1111\/j.1749-6632.2011.06349.x","article-title":"Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome","volume":"1242","author":"Dror","year":"2011","journal-title":"Ann N Y Acad Sci"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib6","doi-asserted-by":"crossref","first-page":"e022617","DOI":"10.1136\/bmjopen-2018-022617","article-title":"Normative growth charts for Shwachman-Diamond syndrome from Italian cohort of 0-8 years old","volume":"9","author":"Cipolli","year":"2019","journal-title":"BMJ Open"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib7","doi-asserted-by":"crossref","first-page":"200","DOI":"10.15386\/mpr-1231","article-title":"Bruising as the first sign of exocrine pancreatic insufficiency in infancy","volume":"92","author":"Szabo","year":"2019","journal-title":"Med Pharm Rep"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib8","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1182\/blood.2018893404","article-title":"EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome","volume":"134","author":"Tan","year":"2019","journal-title":"Blood"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib9","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/ng1062","article-title":"Mutations in SBDS are associated with Shwachman-Diamond syndrome","volume":"33","author":"Boocock","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib10","doi-asserted-by":"crossref","first-page":"3588","DOI":"10.1182\/blood-2004-04-1516","article-title":"Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome","volume":"104","author":"Woloszynek","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib11","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1002\/humu.9324","article-title":"Identification of novel mutations in patients with Shwachman-Diamond syndrome","volume":"25","author":"Nicolis","year":"2005","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib12","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1136\/jmedgenet-2019-106377","article-title":"Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort","volume":"57","author":"Dong","year":"2020","journal-title":"J Med Genet"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib13","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1038\/gim.2016.1","article-title":"A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders","volume":"18","author":"Stark","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib14","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1038\/gim.2017.119","article-title":"Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test","volume":"20","author":"Lionel","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib15","doi-asserted-by":"crossref","first-page":"1731","DOI":"10.1038\/s41436-020-0913-3","article-title":"Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders (vol 21, 2019, 2020)","volume":"22","author":"Srivastava","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib16","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/humu.23940","article-title":"Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome","volume":"41","author":"Watson","year":"2020","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib17","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1002\/ajmg.a.61598","article-title":"Shortfall of exome analysis for diagnosis of Shwachman-Diamond syndrome: mismapping due to the pseudogene SBDSP1","volume":"182","author":"Yamada","year":"2020","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib18","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/gim.2013.92","article-title":"ACMG clinical laboratory standards for next-generation sequencing","volume":"15","author":"Rehm","year":"2013","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib19","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1007\/s00439-020-02216-5","article-title":"Resolving misalignment interference for NGS-based clinical diagnostics","volume":"140","author":"Lee","year":"2021","journal-title":"Hum Genet"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib20","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1186\/1471-2350-15-64","article-title":"Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome","volume":"15","author":"Carvalho","year":"2014","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.2517-6161.1977.tb01600.x","article-title":"Maximum likelihood from incomplete data via the EM algorithm","volume":"39","author":"Dempster","year":"1977","journal-title":"J R Stat Soc Ser B (Methodological)"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib22","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/s41436-018-0091-8","article-title":"Clinical and genetic spectrum of a large cohort of children with epilepsy in China","volume":"21","author":"Yang","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib23","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib24","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib25","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1093\/nar\/gkh340","article-title":"MUSCLE: multiple sequence alignment with high accuracy and high throughput","volume":"32","author":"Edgar","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib26","first-page":"656","article-title":"BLAT--the BLAST-like alignment tool","volume":"12","author":"Kent","year":"2002","journal-title":"Genome Res"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib27","doi-asserted-by":"crossref","first-page":"e564","DOI":"10.1002\/mgg3.564","article-title":"Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION","volume":"7","author":"Leija-Salazar","year":"2019","journal-title":"Mol Genet Genom Med"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib28","doi-asserted-by":"crossref","first-page":"716586","DOI":"10.3389\/fgene.2021.716586","article-title":"PB-Motif-A method for identifying gene\/pseudogene rearrangements with long reads: an application to CYP21A2 genotyping","volume":"12","author":"Stephens","year":"2021","journal-title":"Front Genet"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib29","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/nrg2193","article-title":"Gene conversion: mechanisms, evolution and human disease","volume":"8","author":"Chen","year":"2007","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jmoldx.2022.09.002_bib30","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/j.jmoldx.2020.01.015","article-title":"Survival motor neuron gene copy number analysis by exome sequencing: assisting spinal muscular atrophy diagnosis and carrier screening","volume":"22","author":"Liu","year":"2020","journal-title":"J Mol Diagn"},{"issue":"Suppl 1","key":"10.1016\/j.jmoldx.2022.09.002_bib31","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1182\/blood-2018-99-118495","article-title":"Large genomic deletions in Shwachman-Diamond syndrome","volume":"132","author":"McReynolds","year":"2018","journal-title":"Blood"}],"container-title":["The Journal of Molecular Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S152515782200263X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S152515782200263X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T18:17:00Z","timestamp":1761502620000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S152515782200263X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":31,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["S152515782200263X"],"URL":"https:\/\/doi.org\/10.1016\/j.jmoldx.2022.09.002","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.08.22.21262444","asserted-by":"object"}]},"ISSN":["1525-1578"],"issn-type":[{"value":"1525-1578","type":"print"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Overcoming the Pitfalls of Next-Generation Sequencing\u2013Based Molecular Diagnosis of Shwachman-Diamond Syndrome","name":"articletitle","label":"Article Title"},{"value":"The Journal of Molecular Diagnostics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jmoldx.2022.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}