{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T02:53:33Z","timestamp":1792896813346,"version":"4.5.0"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"10","license":[{"start":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T00:00:00Z","timestamp":1782604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T00:00:00Z","timestamp":1782604800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Dig Dis Sci"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1007\/s10620-026-10072-y","type":"journal-article","created":{"date-parts":[[2026,6,28]],"date-time":"2026-06-28T12:12:37Z","timestamp":1782648757000},"page":"5137-5151","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic Analysis of Isolated Hepatic Ductal Plate Malformation Reveals Novel Variants and Insights into Phenotypic Correlation"],"prefix":"10.1007","volume":"71","author":[{"given":"Meha","family":"Bhuva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Watson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florentina","family":"Sava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7905-2094","authenticated-orcid":false,"given":"William J. H.","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,28]]},"reference":[{"key":"10072_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/S0025-6196(11)63624-0","volume":"73","author":"VJ Desmet","year":"1998","unstructured":"Desmet VJ. Pathogenesis of ductal plate abnormalities. Mayo Clinic Proc 1998;73:80\u201389.","journal-title":"Mayo Clinic Proc"},{"key":"10072_CR2","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1002\/cld.1044","volume":"17","author":"J Lewis","year":"2021","unstructured":"Lewis J. Pathology of fibropolycystic liver diseases. Clin Liver Dis (Hoboken) 2021;17:238\u2013243.","journal-title":"Clin Liver Dis (Hoboken)"},{"key":"10072_CR3","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1016\/S0399-8320(05)86360-2","volume":"29","author":"VJ Desmet","year":"2005","unstructured":"Desmet VJ. Cystic diseases of the liver. From embryology to malformations. Gastroenterol Clin Biol 2005;29:858\u2013860.","journal-title":"Gastroenterol Clin Biol"},{"key":"10072_CR4","doi-asserted-by":"publisher","first-page":"628","DOI":"10.1002\/ar.20710","volume":"291","author":"T Roskams","year":"2008","unstructured":"Roskams T, Desmet V. Embryology of extra- and intrahepatic bile ducts, the ductal plate. Anat Rec (Hoboken) 2008;291:628\u2013635.","journal-title":"Anat Rec (Hoboken)"},{"key":"10072_CR5","doi-asserted-by":"publisher","first-page":"55","DOI":"10.3109\/15513819009067096","volume":"10","author":"BH Reubner","year":"1990","unstructured":"Reubner BH, Blankenberg TA, Burrows DA, SooHoo W, Lund JK. Development and transformation of the ductal plate in the developing human liver. Pediatr Pathol 1990;10:55\u201368.","journal-title":"Pediatr Pathol"},{"key":"10072_CR6","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1053\/j.gastro.2011.06.049","volume":"141","author":"R Carpentier","year":"2011","unstructured":"Carpentier R et al. Embryonic ductal plate cells give rise to cholangiocytes, periportal hepatocytes, and adult liver progenitor cells. Gastroenterology 2011;141:1152\u20131155.","journal-title":"Gastroenterology"},{"key":"10072_CR7","unstructured":"Veltchev LM, Kalniev MA, Todorov TA (2009) Bile duct system malformation embryological and pathological association. Treatment\/review article\/Journal of IMAB Annual Proc. Scientific Papers, Cham"},{"key":"10072_CR8","doi-asserted-by":"publisher","first-page":"1086","DOI":"10.1016\/j.crad.2011.05.008","volume":"66","author":"N Venkatanarasimha","year":"2011","unstructured":"Venkatanarasimha N, Thomas R, Armstrong EM, Shirley JF, Fox BM, Jackson SA. Imaging features of ductal plate malformations in adults. Clin Radiol 2011;66:1086\u20131093.","journal-title":"Clin Radiol"},{"key":"10072_CR9","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1148\/rg.253045114","volume":"25","author":"G Brancatelli","year":"2005","unstructured":"Brancatelli G, Federle MP, Vilgrain V, Vullierme M-P, Marin D, Lagalla R. Fibropolycystic liver disease: CT and MR imaging findings. Radiographics 2005;25:659\u2013670.","journal-title":"Radiographics"},{"key":"10072_CR10","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1016\/S0168-8278(86)80073-3","volume":"2","author":"JA Summerfield","year":"1986","unstructured":"Summerfield JA, Nagafuchi Y, Sherlock S, Cadafalch J, Scheuer PJ. Hepatobiliary fibropolycystic diseases: a clinical and histological review of 51 patients. J Hepatol 1986;2:141\u2013156.","journal-title":"J Hepatol"},{"key":"10072_CR11","unstructured":"Liver transplantation: selection criteria and recipient registration - NHS blood and transplant organ donation and transplantation policy 2018; 195."},{"key":"10072_CR12","doi-asserted-by":"publisher","first-page":"952","DOI":"10.1093\/ndt\/gfw008","volume":"31","author":"FT Chebib","year":"2016","unstructured":"Chebib FT et al. Effect of genotype on the severity and volume progression of polycystic liver disease in autosomal dominant polycystic kidney disease. Nephron Dial Transplant 2016;31:952\u2013960.","journal-title":"Nephron Dial Transplant"},{"key":"10072_CR13","doi-asserted-by":"publisher","first-page":"3046","DOI":"10.1002\/ajmg.a.37352","volume":"167A","author":"J-B Courcet","year":"2015","unstructured":"Courcet J-B et al. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. Am J Med Genet A 2015;167A:3046\u20133053.","journal-title":"Am J Med Genet A"},{"key":"10072_CR14","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754\u20131760.","journal-title":"Bioinformatics"},{"key":"10072_CR15","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H et al. The Sequence alignment\/map format and SAMtools. Bioinformatics 2009;25:2078\u20132079.","journal-title":"Bioinformatics"},{"key":"10072_CR16","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","volume":"43","author":"MA DePristo","year":"2011","unstructured":"DePristo MA et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011;43:491\u2013498.","journal-title":"Nat Genet"},{"key":"10072_CR17","doi-asserted-by":"publisher","first-page":"2865","DOI":"10.1093\/bioinformatics\/btp394","volume":"25","author":"K Ye","year":"2009","unstructured":"Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics 2009;25:2865\u20132871.","journal-title":"Bioinformatics"},{"key":"10072_CR18","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S 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\u2013424.","journal-title":"Genet Med"},{"key":"10072_CR19","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/ng1357","volume":"36","author":"S Davila","year":"2004","unstructured":"Davila S et al. Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet 2004;36:575\u2013577.","journal-title":"Nat Genet"},{"key":"10072_CR20","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1002\/humu.9441","volume":"27","author":"E Waanders","year":"2006","unstructured":"Waanders E, te Morche HM, de Man RA, Jansen JBM, Drench JPH. Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Hum Mutat 2006;27:830.","journal-title":"Hum Mutat"},{"key":"10072_CR21","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/j.1399-0004.2009.01353.x","volume":"78","author":"E Waanders","year":"2010","unstructured":"Waanders E et al. Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63. Clin Genet 2010;78:47\u201356.","journal-title":"Clin Genet"},{"key":"10072_CR22","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1086\/368295","volume":"72","author":"A Li","year":"2003","unstructured":"Li A et al. Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. A J Hum Genet 2003;72:691\u2013703.","journal-title":"A J Hum Genet"},{"key":"10072_CR23","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1186\/1750-1172-9-69","volume":"9","author":"WR Cnossen","year":"2014","unstructured":"Cnossen WR, Drench JPH. Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphaned J Rare Dis 2014;9:69.","journal-title":"Orphaned J Rare Dis"},{"key":"10072_CR24","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/hep.20141","volume":"39","author":"JPH Drenth","year":"2004","unstructured":"Drenth JPH et al. Abnormal hepatocystin caused by truncating PRKCSH mutations leads to autosomal dominant polycystic liver disease. Hepatology 2004;39:924\u2013931.","journal-title":"Hepatology"},{"key":"10072_CR25","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1111\/j.1478-3231.2010.02247.x","volume":"31","author":"L Van Keimpema","year":"2011","unstructured":"Van Keimpema L et al. Patients with isolated polycystic liver disease referred to liver centres: clinical characterization of 137 cases. Liver Int 2011;31:92\u201398.","journal-title":"Liver Int"},{"key":"10072_CR26","doi-asserted-by":"publisher","first-page":"902","DOI":"10.1053\/j.gastro.2023.12.007","volume":"166","author":"R Sch\u00f6nauer","year":"2024","unstructured":"Sch\u00f6nauer R et al. Sex, genotype, and liver volume progression as risk of hospitalisation determinants in autosomal dominant polycystic liver disease. Gastroenterology 2024;166:902\u2013914.","journal-title":"Gastroenterology"},{"key":"10072_CR27","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1186\/s13023-020-01585-4","volume":"15","author":"LFM Van de Laarschot","year":"2020","unstructured":"Van de Laarschot LFM et al. Novel GANAB variants associated with polycystic liver disease. Orphanet J Rare Dis 2020;15:302.","journal-title":"Orphanet J Rare Dis"},{"key":"10072_CR28","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1111\/j.1523-1755.2005.00148.x","volume":"67","author":"C Bergmann","year":"2005","unstructured":"Bergmann C et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int 2005;67:829\u2013848.","journal-title":"Kidney Int"},{"key":"10072_CR29","doi-asserted-by":"publisher","first-page":"1772","DOI":"10.1172\/JCI90129","volume":"127","author":"W Besse","year":"2017","unstructured":"Besse W et al. Isolated polycystic liver disease genes define effectors of polycystin-1 function. J Clin Invest 2017;127:1772\u20131785.","journal-title":"J Clin Invest"},{"key":"10072_CR30","doi-asserted-by":"publisher","first-page":"e70451","DOI":"10.1111\/liv.70451","volume":"46","author":"S Heinrich","year":"2026","unstructured":"Heinrich S et al. Medical management of polycystic liver disease: a position statement from the European reference network of hepatological diseases. Liver int 2026;46:e70451.","journal-title":"Liver int"},{"key":"10072_CR31","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.3390\/genes14091755","volume":"14","author":"MM Boerrigter","year":"2023","unstructured":"Boerrigter MM, Duijzer R, Te Morsche RHM, Drenth JPH. Heterozygosity of ALG9 in association with autosomal dominant polycystic liver disease. Genes (Basel). 2023;14:1755.","journal-title":"Genes (Basel)."},{"key":"10072_CR32","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1016\/j.jhep.2022.06.002","volume":"77","author":"European Association for the Study of the Liver","year":"2022","unstructured":"European Association for the Study of the Liver. EASL clinical practice guidelines on the management of cystic liver diseases. J Hepatol 2022;77:1083\u20131108.","journal-title":"J Hepatol"}],"container-title":["Digestive Diseases and Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10620-026-10072-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10620-026-10072-y","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10620-026-10072-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T15:03:10Z","timestamp":1789052590000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10620-026-10072-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,28]]},"references-count":32,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10072"],"URL":"https:\/\/doi.org\/10.1007\/s10620-026-10072-y","relation":{},"ISSN":["0163-2116","1573-2568"],"issn-type":[{"value":"0163-2116","type":"print"},{"value":"1573-2568","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,28]]},"assertion":[{"value":"13 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors have no relevant financial or other conflict of interest to declare.","order":1,"name":"Ethics","label":"Conflict of interest","group":{"name":"EthicsHeading","label":"Declarations"}}]}}