{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T21:28:12Z","timestamp":1792099692880,"version":"4.4.0"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T00:00:00Z","timestamp":1565049600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Von Hippel\u2010Lindau disease (VHL) is a heritable condition caused by pathogenic variants in\n                    <jats:italic>VHL<\/jats:italic>\n                    and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing efforts to collate VHL patient data do not adequately capture all VHL manifestations. We developed a comprehensive and standardized VHL database in the web\u2010based application, REDCap, that thoroughly captures all VHL manifestation data. As an initial trial, information from 86 VHL patients from the University Health Network\/Hospital for Sick Children was populated into the database. Analysis of this cohort showed missense variants occurring with the greatest frequency, with all variants localizing to the \u03b1\u2010 or \u03b2\u2010domains of\n                    <jats:italic>VHL<\/jats:italic>\n                    . The most prevalent manifestations were central nervous system (CNS), renal, and retinal neoplasms, which were associated with frameshift variants and large deletions. We observed greater age\u2010related penetrance for CNS hemangioblastomas with truncating variants compared to missense, while the reverse was true for pheochromocytomas. We demonstrate the utility of a comprehensive VHL database, which supports the standardized collection of clinical and genetic data specific to this patient population. Importantly, we expect that its web\u2010based design will facilitate broader international collaboration and lead to a better understanding of VHL.\n                  <\/jats:p>","DOI":"10.1111\/cge.13613","type":"journal-article","created":{"date-parts":[[2019,8,1]],"date-time":"2019-08-01T03:34:05Z","timestamp":1564630445000},"page":"461-467","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Comprehensive characterization of a Canadian cohort of von Hippel\u2010Lindau disease patients"],"prefix":"10.1111","volume":"96","author":[{"given":"Yasser","family":"Salama","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Toronto  Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saleh","family":"Albanyan","sequence":"additional","affiliation":[{"name":"Clinical and Metabolic Genetics Hospital for Sick Children  Toronto Ontario 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