{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T17:19:12Z","timestamp":1788369552508,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T00:00:00Z","timestamp":1739664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100015774","name":"Universit\u00e0 ta' Malta","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100015774","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Intrahepatic cholestasis of pregnancy (ICP) has a multifactorial pathophysiology involving genetic, endocrine, and environmental factors. It is associated with maternal distress and adverse foetal outcomes. The monogenic aetiology of ICP remains unexplored in the Maltese population. We apply whole exome sequencing in 20 unrelated index cases to assess the molecular spectrum of variants in genes linked to bile acid transport. We shortlisted five unique heterozygous variants. Three\n                    <jats:italic>ABCB4<\/jats:italic>\n                    variants, including a novel likely pathogenic stop\u2010gain variant were detected. Three genealogically unrelated cases carried an\n                    <jats:italic>ABCB4<\/jats:italic>\n                    p.Asn510Ser variant, suggestive of a founder through shared haplotype analysis. This study provides preliminary insight into the monogenic aetiology of ICP from an unstudied population. It expands the spectrum of genetic variants associated with ICP and provides evidence for a founder effect in the Maltese population.\n                  <\/jats:p>","DOI":"10.1111\/cge.14728","type":"journal-article","created":{"date-parts":[[2025,2,16]],"date-time":"2025-02-16T23:44:46Z","timestamp":1739749486000},"page":"206-211","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Intrahepatic Cholestasis of Pregnancy: A Single\u2010Centre Whole\u2010Exome Sequencing Study in a Maltese Cohort"],"prefix":"10.1111","volume":"108","author":[{"given":"Dorianne","family":"Spiteri","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Surgery University of Malta  Msida Malta"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1661-7158","authenticated-orcid":false,"given":"Laura","family":"Grech","sequence":"additional","affiliation":[{"name":"Faculty of Health 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