{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:44:52Z","timestamp":1792788292918,"version":"4.5.0"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T00:00:00Z","timestamp":1710115200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR001105"],"award-info":[{"award-number":["UL1 TR001105"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1 TR000445"],"award-info":[{"award-number":["UL1 TR000445"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Turner Syndrome Society of the United States","award":["Turner Syndrome Society of the United States"],"award-info":[{"award-number":["Turner Syndrome Society of the United States"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Many different clinical specialists provide care to patients with Turner syndrome (TS), who have highly variable clinical manifestations. Therefore, a national TS registry is essential to inform a cohesive approach to healthcare and research. In 2015, the Turner Syndrome Society of the United States (TSSUS) created the Turner Syndrome Research Registry (TSRR) to engage directly with community participants who voluntarily provide longitudinal data about their experiences with TS. TSRR projects are collaborative partnerships between people with TS, TSSUS, and researchers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>To ensure that registry workflows conform to the data privacy choices of participants, TSSUS collaborated with UTHealth Houston in 2021 to create a new version of the TSRR that completely separates participant health data (stored at UTHealth) and personal identifiers (maintained at TSSUS). We developed an innovative Visual Basic (VB) script that, when embedded into Microsoft Outlook, redirects REDCap surveys through TSSUS to participants by matching registry IDs to participant email addresses. Additionally, the utilization of REDCap allows for portability of data as it is an open source platform.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>In this report, we will highlight three recent changes that more closely align the TSRR with this mission: a unique and equal collaborative partnership between UTHealth and TSSUS, an open-source platform, REDCap, that ensures data portability and compatibility across institutions, and an innovative survey routing system that retains participant confidentiality without sacrificing REDCap survey distribution capabilities to connect researchers with thousands of participants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03120-1","type":"journal-article","created":{"date-parts":[[2024,3,11]],"date-time":"2024-03-11T11:03:37Z","timestamp":1710155017000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry"],"prefix":"10.1186","volume":"19","author":[{"given":"Sara","family":"Mansoorshahi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cindy","family":"Scurlock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scientific Advisory Board of the Tu","family":"Research Registry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth K","family":"Prakash","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,3,11]]},"reference":[{"issue":"7075","key":"3120_CR1","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/S0140-6736(59)91893-8","volume":"1","author":"CE Ford","year":"1959","unstructured":"Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner\u2019s syndrome). Lancet Lond Engl. 1959;1(7075):711\u20133.","journal-title":"Lancet Lond Engl"},{"issue":"3","key":"3120_CR2","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1016\/0168-9525(93)90230-F","volume":"9","author":"AR Zinn","year":"1993","unstructured":"Zinn AR, Page DC, Fisher EM. Turner syndrome: the case of the missing sex chromosome. Trends Genet TIG. 1993;9(3):90\u20133.","journal-title":"Trends Genet TIG"},{"issue":"7","key":"3120_CR3","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.tig.2015.03.013","volume":"31","author":"IM Campbell","year":"2015","unstructured":"Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for Disease and Transmission Genetics. 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Eur J Endocrinol. 2017;177(3):G1\u201370.","DOI":"10.1530\/EJE-17-0430"},{"issue":"1","key":"3120_CR6","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1002\/ajmg.c.31683","volume":"181","author":"M Viuff","year":"2019","unstructured":"Viuff M, Skakkebaek A, Nielsen MM, Chang S, Gravholt CH. Epigenetics and genomics in Turner syndrome. Am J Med Genet C Semin Med Genet. 2019;181(1):68\u201375.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"4","key":"3120_CR7","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1016\/j.fertnstert.2012.08.021","volume":"98","author":"Q Zhong","year":"2012","unstructured":"Zhong Q, Layman LC. Genetic considerations in the patient with Turner syndrome\u201345,X with or without mosaicism. 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The study protocol was reviewed and approved by the Committee for the Protection of Human Subjects at the University of Texas Health Science Center at Houston (IRB# HSC-MS-21-0384).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interests"}}],"article-number":"112"}}