{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T22:28:53Z","timestamp":1773786533594,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T00:00:00Z","timestamp":1765497600000},"content-version":"vor","delay-in-days":345,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetics Research"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    This case study examines a preterm newborn with autosomal recessive\n                    <jats:italic>ABCC8<\/jats:italic>\n                    gene\u2010related diffuse congenital hyperinsulinism (CHI). The interdisciplinary management of the patient, including advanced genetic testing and long\u2010read sequencing, finally led to the molecular diagnosis. These findings were relevant for the immediate decision on further treatment options highlighting the importance of differentiating between focal and diffuse CHI forms, and for providing the family with counseling on the recurrence risks and prenatal diagnostic options. In summary, this study illustrates the clinical and genetic intricacies of CHI, emphasizing the significance of comprehensive genetic analysis in diagnostics and tailored treatment. The case advocates for the integration of state\u2010of\u2010the\u2010art genetic diagnostic technologies in combination with clinical interdisciplinary management to improve patient outcomes.\n                  <\/jats:p>","DOI":"10.1155\/genr\/7281653","type":"journal-article","created":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T07:07:57Z","timestamp":1765609677000},"source":"Crossref","is-referenced-by-count":0,"title":["Comprehensive Genetic Testing for Clinical Decision\u2010Making in a Patient With Congenital Hyperinsulinism"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4659-8437","authenticated-orcid":false,"given":"Matthias","family":"Begemann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes Alexander Tobias","family":"Boy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Kraft","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hendrik","family":"Vossschulte","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winfried","family":"Barthlen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastian","family":"Kummer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thorsten","family":"Orlikowsky","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adrin","family":"Torosoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-0264","authenticated-orcid":false,"given":"Thomas","family":"Eggermann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5088-1369","authenticated-orcid":false,"given":"Miriam","family":"Elbracht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6006-0326","authenticated-orcid":false,"given":"Angeliki","family":"Pappa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,12]]},"reference":[{"key":"e_1_2_9_1_2","doi-asserted-by":"publisher","DOI":"10.1111\/dme.13823"},{"key":"e_1_2_9_2_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-63"},{"key":"e_1_2_9_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2018_140"},{"key":"e_1_2_9_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31737"},{"key":"e_1_2_9_5_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0228417"},{"key":"e_1_2_9_6_2","doi-asserted-by":"publisher","DOI":"10.1159\/000531766"},{"key":"e_1_2_9_7_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7716548"},{"key":"e_1_2_9_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.11.1809"},{"key":"e_1_2_9_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI4495"},{"key":"e_1_2_9_10_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1004873"},{"key":"e_1_2_9_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12859-024-06010-2"}],"container-title":["Genetics Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/genr\/7281653","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/genr\/7281653","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/genr\/7281653","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T18:52:49Z","timestamp":1773773569000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/genr\/7281653"}},"subtitle":[],"editor":[{"given":"Qiuhong","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/genr\/7281653"],"URL":"https:\/\/doi.org\/10.1155\/genr\/7281653","archive":["Portico"],"relation":{},"ISSN":["0016-6723","1469-5073"],"issn-type":[{"value":"0016-6723","type":"print"},{"value":"1469-5073","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"article-number":"7281653"}}