{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T13:43:31Z","timestamp":1769607811065,"version":"3.49.0"},"publisher-location":"Cham","reference-count":14,"publisher":"Springer Nature Switzerland","isbn-type":[{"value":"9783031765490","type":"print"},{"value":"9783031765506","type":"electronic"}],"license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"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":[],"published-print":{"date-parts":[[2025]]},"DOI":"10.1007\/978-3-031-76550-6_7","type":"book-chapter","created":{"date-parts":[[2025,2,10]],"date-time":"2025-02-10T20:47:38Z","timestamp":1739220458000},"page":"41-44","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel Potentially Pathogenic Variants in TBC1D32 Cause Non-syndromic Rod-Cone Degeneration"],"prefix":"10.1007","author":[{"given":"Riccardo","family":"Sangermano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily M.","family":"Place","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric A.","family":"Pierce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kinga M.","family":"Bujakowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,2,11]]},"reference":[{"key":"7_CR1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/humu.22477","volume":"35","author":"N Adly","year":"2014","unstructured":"Adly N, Alhashem A, Ammari A, et al. Ciliary genes TBC1D32\/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat. 2014;35:36\u201340.","journal-title":"Hum Mutat"},{"key":"7_CR2","doi-asserted-by":"publisher","first-page":"1985","DOI":"10.1002\/ajmg.a.61717","volume":"182","author":"N Alsahan","year":"2020","unstructured":"Alsahan N, Alkuraya FS. Confirming TBC1D32-related ciliopathy in humans. Am J Med Genet A. 2020;182:1985\u20137.","journal-title":"Am J Med Genet A"},{"key":"7_CR3","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.169426","volume":"8","author":"B Bocquet","year":"2023","unstructured":"Bocquet B, Borday C, Erkilic N, et al. TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. JCI Insight. 2023;8:e169426.","journal-title":"JCI Insight"},{"key":"7_CR4","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.167546","volume":"8","author":"J Comander","year":"2023","unstructured":"Comander J, DiFranco CW, Sanderson K, et al. Natural history of retinitis pigmentosa based on genotype, vitamin A\/E supplementation, and an electroretinogram biomarker. JCI Insight. 2023;8:e167546.","journal-title":"JCI Insight"},{"key":"7_CR5","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1002\/humu.21438","volume":"32","author":"IFAC Fokkema","year":"2011","unstructured":"Fokkema IFAC, Taschner PEM, Schaafsma GCP, et al. LOVD v.2.0: The next generation in gene variant databases. Hum Mutat. 2011;32:557\u201363.","journal-title":"Hum Mutat"},{"key":"7_CR6","doi-asserted-by":"publisher","first-page":"2710","DOI":"10.1073\/pnas.1913179117","volume":"117","author":"M Hanany","year":"2020","unstructured":"Hanany M, Rivolta C, Sharon D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc Natl Acad Sci USA. 2020;117:2710\u20136.","journal-title":"Proc Natl Acad Sci USA"},{"key":"7_CR7","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan K, Kyriazopoulou Panagiotopoulou S, McRae JF, et al. Predicting splicing from primary sequence with deep learning. Cell. 2019;176:535\u201348.","journal-title":"Cell"},{"key":"7_CR8","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/j.devcel.2009.12.014","volume":"18","author":"HW Ko","year":"2010","unstructured":"Ko HW, Norman RX, Tran J, et al. Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. Dev Cell. 2010;18:237\u201347.","journal-title":"Dev Cell"},{"key":"7_CR9","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale 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\u201324.","journal-title":"Genet Med"},{"key":"7_CR10","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1038\/s41525-021-00214-8","volume":"6","author":"R Sangermano","year":"2021","unstructured":"Sangermano R, Deitch I, Peter VG, et al. Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom Med. 2021;6:53.","journal-title":"NPJ Genom Med"},{"key":"7_CR11","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a004754","volume":"6","author":"HA Scott","year":"2020","unstructured":"Scott HA, Place EM, Ferenchak K, et al. Expanding the phenotypic spectrum in RDH12-associated retinal disease. Cold Spring Harb Mol Case Stud. 2020;6:a004754.","journal-title":"Cold Spring Harb Mol Case Stud"},{"key":"7_CR12","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","volume":"66","author":"SK Verbakel","year":"2018","unstructured":"Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018;66:157\u201386.","journal-title":"Prog Retin Eye Res"},{"key":"7_CR13","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1002\/humu.23892","volume":"40","author":"L Wiel","year":"2019","unstructured":"Wiel L, Baakman C, Gilissen D, et al. MetaDome: pathogenicity analysis of genetic variants through aggregation of homologous human protein domains. Hum Mutat. 2019;40:1030\u20138.","journal-title":"Hum Mutat"},{"key":"7_CR14","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/j.gim.2021.09.015","volume":"24","author":"E Zampaglione","year":"2022","unstructured":"Zampaglione E, Maher M, Place EM, et al. The importance of automation in genetic diagnosis: lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK). Genet Med. 2022;24:332\u201343.","journal-title":"Genet Med"}],"container-title":["Advances in Experimental Medicine and Biology","Retinal Degenerative Diseases XX"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-031-76550-6_7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,10]],"date-time":"2025-02-10T20:47:39Z","timestamp":1739220459000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-031-76550-6_7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"ISBN":["9783031765490","9783031765506"],"references-count":14,"URL":"https:\/\/doi.org\/10.1007\/978-3-031-76550-6_7","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"11 February 2025","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}},{"value":"IWAAL","order":1,"name":"conference_acronym","label":"Conference Acronym","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"International Workshop on Ambient Assisted Living","order":2,"name":"conference_name","label":"Conference Name","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"Torremolinos","order":3,"name":"conference_city","label":"Conference City","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"Spain","order":4,"name":"conference_country","label":"Conference Country","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"2011","order":5,"name":"conference_year","label":"Conference Year","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"8 June 2011","order":7,"name":"conference_start_date","label":"Conference Start Date","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"10 June 2011","order":8,"name":"conference_end_date","label":"Conference End Date","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"3","order":9,"name":"conference_number","label":"Conference Number","group":{"name":"ConferenceInfo","label":"Conference Information"}},{"value":"7215","order":10,"name":"conference_id","label":"Conference ID","group":{"name":"ConferenceInfo","label":"Conference Information"}}]}}