{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T03:12:11Z","timestamp":1793416331177,"version":"4.5.0"},"reference-count":48,"publisher":"Wiley","license":[{"start":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T00:00:00Z","timestamp":1715990400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"UNC\/Kaiser","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}]},{"name":"UNC\/Kaiser","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"name":"UNC\/Kaiser","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}]},{"name":"UNC\/Kaiser","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}]},{"name":"UNC\/Kaiser","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}]},{"name":"Broad\/Geisinger","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}]},{"name":"Broad\/Geisinger","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"name":"Broad\/Geisinger","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}]},{"name":"Broad\/Geisinger","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}]},{"name":"Broad\/Geisinger","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}]},{"name":"Baylor\/Stanford","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}]},{"name":"Baylor\/Stanford","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"name":"Baylor\/Stanford","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}]},{"name":"Baylor\/Stanford","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}]},{"name":"Baylor\/Stanford","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003770","name":"Banca d'Italia","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/501100003770","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003770","name":"Banca d'Italia","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/501100003770","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003770","name":"Banca d'Italia","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/501100003770","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003770","name":"Banca d'Italia","doi-asserted-by":"publisher","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/501100003770","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003770","name":"Banca d'Italia","doi-asserted-by":"publisher","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/501100003770","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Fondo Beneficenza Intesa Sanpaolo","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}]},{"name":"Fondo Beneficenza Intesa Sanpaolo","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"name":"Fondo Beneficenza Intesa Sanpaolo","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}]},{"name":"Fondo Beneficenza Intesa Sanpaolo","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}]},{"name":"Fondo Beneficenza Intesa Sanpaolo","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003339","name":"Consejo Superior de Investigaciones Cientificas","doi-asserted-by":"crossref","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/501100003339","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003339","name":"Consejo Superior de Investigaciones Cientificas","doi-asserted-by":"crossref","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/501100003339","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003339","name":"Consejo Superior de Investigaciones Cientificas","doi-asserted-by":"crossref","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/501100003339","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003339","name":"Consejo Superior de Investigaciones Cientificas","doi-asserted-by":"crossref","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/501100003339","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100003339","name":"Consejo Superior de Investigaciones Cientificas","doi-asserted-by":"crossref","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/501100003339","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"crossref","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"crossref","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"crossref","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"crossref","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004063","name":"Knut and Alice Wallenberg Foundation","doi-asserted-by":"crossref","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/501100004063","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100013342","name":"NIHR Imperial Biomedical Research Centre","doi-asserted-by":"publisher","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}],"id":[{"id":"10.13039\/501100013342","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013342","name":"NIHR Imperial Biomedical Research Centre","doi-asserted-by":"publisher","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}],"id":[{"id":"10.13039\/501100013342","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013342","name":"NIHR Imperial Biomedical Research Centre","doi-asserted-by":"publisher","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}],"id":[{"id":"10.13039\/501100013342","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013342","name":"NIHR Imperial Biomedical Research Centre","doi-asserted-by":"publisher","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}],"id":[{"id":"10.13039\/501100013342","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013342","name":"NIHR Imperial Biomedical Research Centre","doi-asserted-by":"publisher","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}],"id":[{"id":"10.13039\/501100013342","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Hemostasis\/Thrombosis Clinical Domain Working Group","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}]},{"name":"Hemostasis\/Thrombosis Clinical Domain Working Group","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"name":"Hemostasis\/Thrombosis Clinical Domain Working Group","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}]},{"name":"Hemostasis\/Thrombosis Clinical Domain Working Group","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}]},{"name":"Hemostasis\/Thrombosis Clinical Domain Working Group","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}]},{"name":"ClinGen Sequence Variant Interpretation Working Group","award":["U24HG009650"],"award-info":[{"award-number":["U24HG009650"]}]},{"name":"ClinGen Sequence Variant Interpretation Working Group","award":["U24HG006834"],"award-info":[{"award-number":["U24HG006834"]}]},{"name":"ClinGen Sequence Variant Interpretation Working Group","award":["U24HG009649"],"award-info":[{"award-number":["U24HG009649"]}]},{"name":"ClinGen Sequence Variant Interpretation Working Group","award":["2020-04936"],"award-info":[{"award-number":["2020-04936"]}]},{"name":"ClinGen Sequence Variant Interpretation Working Group","award":["2018.0042"],"award-info":[{"award-number":["2018.0042"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2024,5,18]]},"abstract":"<jats:p>The 2015 ACMG\/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the hereditary hemorrhagic telangiectasia (HHT) genes. However, the need for gene- and disease-specific modifications and specifications of these general guidelines to optimize and standardize variant classification was recognized at the time of publication. With this goal, the ClinGen HHT variant curation expert panel was formed. Here, we describe our recommended HHT-specific variant classification criteria and the outcomes from pilot testing of 30 variants of the ENG and ACVRL1 genes. Eight of the original ACMG\/AMP rules were determined to not be applicable for ENG- or ACVRL1-related HHT or were previously recommended by ClinGen for removal, two rules were unmodified, and the remaining 18 rules were modified according to HHT specifications or previous ClinGen general recommendations. This study demonstrates the importance of HHT-specific criteria in the optimization and standardization of HHT variant classification and conflicting classification resolution.<\/jats:p>","DOI":"10.1155\/2024\/3043736","type":"journal-article","created":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T15:50:09Z","timestamp":1716047409000},"page":"1-13","source":"Crossref","is-referenced-by-count":12,"title":["Specifications of the ACMG\/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes\u2014ENG and ACVRL1"],"prefix":"10.1155","volume":"2024","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7924-3379","authenticated-orcid":true,"given":"Desiree","family":"DeMille","sequence":"first","affiliation":[{"name":"Genomics Analysis, ARUP Laboratories, Salt Lake City, UT 84108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9939-7922","authenticated-orcid":true,"given":"Jamie","family":"McDonald","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Utah, Salt Lake City, UT 84108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1563-6162","authenticated-orcid":true,"given":"Carmelo","family":"Bernabeu","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Biol\u00f3gicas Margarita Salas, Consejo Superior de Investigaciones Cient\u00edficas (CSIC), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2827-7824","authenticated-orcid":true,"given":"Hilary","family":"Racher","sequence":"additional","affiliation":[{"name":"Impact Genetics\/Dynacare, Brampton, L6T 5M3, Canada"},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5812-3175","authenticated-orcid":true,"given":"Carla","family":"Olivieri","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8960-2678","authenticated-orcid":true,"given":"Claudia","family":"Cantarini","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0010-0840","authenticated-orcid":true,"given":"Anna","family":"Sbalchiero","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Pavia, Pavia 27100, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8655-1839","authenticated-orcid":true,"given":"Bryony A.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Department of Pathology, Royal Melbourne Hospital, Melbourne 3050, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2679-6946","authenticated-orcid":true,"given":"Luca","family":"Jovine","sequence":"additional","affiliation":[{"name":"Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge 141 83, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9007-5775","authenticated-orcid":true,"given":"Claire L.","family":"Shovlin","sequence":"additional","affiliation":[{"name":"National Heart and Lung Institute, Imperial College, London W12 0HN, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8834-5526","authenticated-orcid":true,"given":"Sophie","family":"Dupuis-Girod","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, National HHT Reference Center and Department of Medical Genetics, Femme M\u00e8re Enfants Hospital, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7691-9492","authenticated-orcid":true,"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, National HHT Reference Center and Department of Medical Genetics, Femme M\u00e8re Enfants Hospital, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0494-5530","authenticated-orcid":true,"given":"Maud","family":"Tusseau","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon, National HHT Reference Center and Department of Medical Genetics, Femme M\u00e8re Enfants Hospital, 69500 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4527-3216","authenticated-orcid":true,"given":"Arupa","family":"Ganguly","sequence":"additional","affiliation":[{"name":"Department of Genetics, PSOM, University of Pennsylvania, Philadelphia, PA 19104, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6672-3082","authenticated-orcid":true,"given":"Raj S.","family":"Kasthuri","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-1886-3560","authenticated-orcid":true,"given":"Jaime","family":"Jessen","sequence":"additional","affiliation":[{"name":"Impact Genetics\/Dynacare, Brampton, L6T 5M3, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7845-6038","authenticated-orcid":true,"given":"Maarten P. G.","family":"Massink","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, Utrecht 3584CX, Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6477-0520","authenticated-orcid":true,"given":"Shoji","family":"Ichikawa","sequence":"additional","affiliation":[{"name":"Ambry Genetics, Aliso Viejo, CA 92656, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9381-2478","authenticated-orcid":true,"given":"Pinar","family":"Bayrak-Toydemir","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Utah, Salt Lake City, UT 84108, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.7326\/M20-1443"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.8.527"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2021-218332"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31101"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9312"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38695"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01727.x"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.088286"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.088112"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106794"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(20000306)91:1%3C66::aid-ajmg12%3E3.0.co;2-p"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2018.01.079"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1002\/lary.27015"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2018.11.014"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.585"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2023.100865"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2021.07.007"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320302"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-33"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069013"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109195"},{"key":"23","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0443-z"},{"key":"24","article-title":"Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2021 Nov 24]","volume-title":"GeneReviews\u00ae","author":"J. McDonald","year":"2024"},{"key":"25","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0775-8"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2019004560"},{"key":"27","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0825-4"},{"key":"28","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01596.x"},{"key":"29","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042606"},{"key":"30","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105561"},{"key":"31","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-85"},{"key":"32","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0564-x"},{"key":"33","doi-asserted-by":"publisher","DOI":"10.1038\/s41525-023-00378-5"},{"key":"34","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.42"},{"key":"35","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"36","doi-asserted-by":"publisher","DOI":"10.1007\/s10456-015-9482-5"},{"key":"37","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.04.00085504"},{"key":"38","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0184227"},{"key":"39","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9113571"},{"key":"40","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020174"},{"key":"41","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.RA118.002968"},{"key":"42","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2022.973964"},{"key":"43","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.05.011"},{"key":"44","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu531"},{"key":"45","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.377960"},{"key":"46","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-15425-3"},{"key":"47","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-30111-2"},{"key":"48","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2007.060117"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2024\/3043736.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2024\/3043736.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/humu\/2024\/3043736.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,18]],"date-time":"2024-05-18T15:50:35Z","timestamp":1716047435000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/humu\/2024\/3043736\/"}},"subtitle":[],"editor":[{"given":"Stuart","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2024,5,18]]},"references-count":48,"alternative-id":["3043736","3043736"],"URL":"https:\/\/doi.org\/10.1155\/2024\/3043736","relation":{},"ISSN":["1098-1004","1059-7794"],"issn-type":[{"value":"1098-1004","type":"electronic"},{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5,18]]}}}