{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:12:09Z","timestamp":1791871929985,"version":"4.3.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T00:00:00Z","timestamp":1678924800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arteriovenous malformations (AVMs) are vascular lesions in which an overgrowth of blood vessels of varying sizes develops with one or more direct connections between the arterial and venous circulation. We performed a retrospective review of a cohort of 54 patients with AVMs referred to our clinical genomic laboratory for high\u2010depth next\u2010generation sequencing (NGS) panel of Disorders of Somatic Mosaicism (DoSM). Thirty\u2010seven of 54 patients were female (68.5%). Among the 54 cases, 37 (68.5%) cases had pathogenic and\/or likely pathogenic (P\/LP) variants identified, two cases (3.7%) had variants of uncertain clinical significance, and the remaining 15 cases (27.8%) had negative results. <jats:italic>MAP2K1<\/jats:italic> variants were found in 12 cases, followed by eight cases with <jats:italic>KRAS<\/jats:italic> variants and seven with <jats:italic>TEK<\/jats:italic> variants, and the remainder being identified in several other genes on the panel. Among the 37 positive cases, 32 cases had somatic alterations only; the remaining five cases had at least one germline P\/LP variant, including four cases with <jats:italic>PTEN<\/jats:italic> and one with <jats:italic>RASA1<\/jats:italic>. Of note, two cases had the unexpected co\u2010existence of two P\/LP variants. In summary, this study illustrated the molecular diagnostic yield (68.5%) of this cohort of patients with a clinical indication of AVMs by our high\u2010depth DoSM NGS panel.<\/jats:p>","DOI":"10.1002\/ajmg.a.63171","type":"journal-article","created":{"date-parts":[[2023,3,16]],"date-time":"2023-03-16T08:49:41Z","timestamp":1678956581000},"page":"1518-1524","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["High\u2010depth next\u2010generation sequencing panel testing in the evaluation of arteriovenous malformations"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7340-3631","authenticated-orcid":false,"given":"Patricia V.","family":"Hernandez","sequence":"first","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine A.","family":"King","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics and Genomic Medicine Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Evenson","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meagan M.","family":"Corliss","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4389-043X","authenticated-orcid":false,"given":"Molly C.","family":"Schroeder","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan W.","family":"Heusel","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"},{"name":"Department of Genetics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A.","family":"Neidich","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"},{"name":"Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2499-3567","authenticated-orcid":false,"given":"Yang","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Pathology and Immunology Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI98589"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.116.026886"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/1591019920982810"},{"key":"e_1_2_9_5_1","volume-title":"GeneReviews [Internet]","author":"Boon, L. 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