{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T07:43:34Z","timestamp":1740123814713,"version":"3.37.3"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T00:00:00Z","timestamp":1722297600000},"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":["Doc Ophthalmol"],"published-print":{"date-parts":[[2024,10]]},"DOI":"10.1007\/s10633-024-09985-8","type":"journal-article","created":{"date-parts":[[2024,7,30]],"date-time":"2024-07-30T14:02:48Z","timestamp":1722348168000},"page":"133-138","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Rod-sparing in a bardet-biedl syndrome patient with mutations in the ARL6 gene"],"prefix":"10.1007","volume":"149","author":[{"given":"Jorge","family":"Pincay","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn","family":"Rodriguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Divya","family":"Kaushal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9082-2427","authenticated-orcid":false,"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,30]]},"reference":[{"issue":"6","key":"9985_CR1","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","volume":"129","author":"MV Nachury","year":"2007","unstructured":"Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Per\u00e4nen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129(6):1201\u201313","journal-title":"Cell"},{"doi-asserted-by":"crossref","unstructured":"Klink, B.U., E. Zent, P. Juneja, A. Kuhlee, S. Raunser, and A. Wittinghofer, A recombinant BBSome core complex and how it interacts with ciliary cargo. Elife, 2017. 6","key":"9985_CR2","DOI":"10.7554\/eLife.27434"},{"issue":"7","key":"9985_CR3","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1016\/j.cell.2010.05.015","volume":"141","author":"H Jin","year":"2010","unstructured":"Jin H, White SR, Shida T, Schulz S, Aguiar M, Gygi SP, Bazan JF, Nachury MV (2010) The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. Cell 141(7):1208\u201319","journal-title":"Cell"},{"issue":"6","key":"9985_CR4","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1016\/j.devcel.2008.11.001","volume":"15","author":"AV Loktev","year":"2008","unstructured":"Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV (2008) A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell 15(6):854\u201365","journal-title":"Dev Cell"},{"issue":"3","key":"9985_CR5","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1086\/423903","volume":"75","author":"AP Chiang","year":"2004","unstructured":"Chiang AP, Nishimura D, Searby C, Elbedour K, Carmi R, Ferguson AL, Secrist J, Braun T, Casavant T, Stone EM, Sheffield VC (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet 75(3):475\u201384","journal-title":"Am J Hum Genet"},{"issue":"1","key":"9985_CR6","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1111\/ceo.13875","volume":"49","author":"X Liu","year":"2021","unstructured":"Liu X, Tao T, Zhao L, Li G, Yang L (2021) Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non-syndromic inherited retinal dystrophies. Clin Exp Ophthalmol 49(1):46\u201359","journal-title":"Clin Exp Ophthalmol"},{"doi-asserted-by":"crossref","unstructured":"Braun, D.A., M. Schueler, J. Halbritter, H.Y. Gee, J.D. Porath, J.A. Lawson, R. Airik, S. Shril, S.J. Allen, D. Stein, A. Al Kindy, B.B. Beck, N. Cengiz, K.N. Moorani, F. Ozaltin, S. Hashmi, J.A. Sayer, D. Bockenhauer, N.A. Soliman, E.A. Otto, R.P. Lifton, and F. Hildebrandt, Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int, 2016. 89(2): p. 468-475.","key":"9985_CR7","DOI":"10.1038\/ki.2015.317"},{"key":"9985_CR8","first-page":"2464","volume":"15","author":"MA Aldahmesh","year":"2009","unstructured":"Aldahmesh MA, Safieh LA, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS (2009) Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis 15:2464\u20139","journal-title":"Mol Vis"},{"issue":"8","key":"9985_CR9","doi-asserted-by":"publisher","first-page":"1625","DOI":"10.1093\/hmg\/ddr039","volume":"20","author":"PR Pretorius","year":"2011","unstructured":"Pretorius PR, Aldahmesh MA, Alkuraya FS, Sheffield VC, Slusarski DC (2011) Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration. Hum Mol Genet 20(8):1625\u201332","journal-title":"Hum Mol Genet"},{"doi-asserted-by":"crossref","unstructured":"Patel, N., M.A. Aldahmesh, H. Alkuraya, S. Anazi, H. Alsharif, A.O. Khan, A. Sunker, S. Al-Mohsen, E.B. Abboud, S.R. Nowilaty, M. Alowain, H. Al-Zaidan, B. Al-Saud, A. Alasmari, G.M. Abdel-Salam, M. Abouelhoda, F.M. Abdulwahab, N. Ibrahim, E. Naim, B. Al-Younes, E.A. A, A. AlIssa, M. Hashem, O. Buzovetsky, Y. Xiong, D. Monies, N. Altassan, R. Shaheen, S.A. Al-Hazzaa, and F.S. Alkuraya, Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med, 2016. 18(6): p. 554-62.","key":"9985_CR10","DOI":"10.1038\/gim.2015.127"},{"issue":"12","key":"9985_CR11","doi-asserted-by":"publisher","first-page":"1244","DOI":"10.1038\/gim.2016.37","volume":"18","author":"M Abouelhoda","year":"2016","unstructured":"Abouelhoda M, Sobahy T, El-Kalioby M, Patel N, Shamseldin H, Monies D, Al-Tassan N, Ramzan K, Imtiaz F, Shaheen R, Alkuraya FS (2016) Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden. Genet Med 18(12):1244\u20131249","journal-title":"Genet Med"},{"issue":"8","key":"9985_CR12","doi-asserted-by":"publisher","first-page":"1331","DOI":"10.1093\/hmg\/3.8.1331","volume":"3","author":"VC Sheffield","year":"1994","unstructured":"Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 3(8):1331\u20135","journal-title":"Hum Mol Genet"},{"doi-asserted-by":"crossref","unstructured":"Jaffal, L., W.H. Joumaa, A. Assi, C. Helou, G. Cherfan, K. Zibara, I. Audo, C. Zeitz, and S. El Shamieh, Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. Genes (Basel), 2019. 10(12).","key":"9985_CR13","DOI":"10.3390\/genes10121047"},{"issue":"9","key":"9985_CR14","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1038\/ng1414","volume":"36","author":"Y Fan","year":"2004","unstructured":"Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet 36(9):989\u201393","journal-title":"Nat Genet"},{"issue":"9","key":"9985_CR15","doi-asserted-by":"publisher","first-page":"6118","DOI":"10.1167\/iovs.13-11673","volume":"54","author":"S Seo","year":"2013","unstructured":"Seo S, Mullins RF, Dumitrescu AV, Bhattarai S, Gratie D, Wang K, Stone EM, Sheffield V, Drack AV (2013) Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. Invest Ophthalmol Vis Sci 54(9):6118\u201332","journal-title":"Invest Ophthalmol Vis Sci"},{"issue":"15","key":"9985_CR16","doi-asserted-by":"publisher","first-page":"6276","DOI":"10.1073\/pnas.1019222108","volume":"108","author":"DL Simons","year":"2011","unstructured":"Simons DL, Boye SL, Hauswirth WW, Wu SM (2011) Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model. Proc Natl Acad Sci U S A 108(15):6276\u201381","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"2","key":"9985_CR17","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1023\/B:DOOP.0000036793.44912.45","volume":"108","author":"MF Marmor","year":"2004","unstructured":"Marmor MF, Holder GE, Seeliger MW, Yamamoto S (2004) Standard for clinical electroretinography (2004 update). Doc Ophthalmol 108(2):107\u201314","journal-title":"Doc Ophthalmol"},{"key":"9985_CR18","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 (2015) 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 17:405\u2013423. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"issue":"1","key":"9985_CR19","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1111\/cge.12737","volume":"90","author":"SA Khan","year":"2016","unstructured":"Khan SA, Muhammad N, Khan MA, Kamal A, Rehman ZU, Khan S (2016) Genetics of human Bardet-Biedl syndrome, an updates. Clin Genet 90(1):3\u201315","journal-title":"Clin Genet"},{"issue":"1","key":"9985_CR20","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21(1):8\u201313","journal-title":"Eur J Hum Genet"},{"doi-asserted-by":"crossref","unstructured":"Riise, R., Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases. Acta Ophthalmol Suppl (1985), 1987. 182: p. 128-31.","key":"9985_CR21","DOI":"10.1111\/j.1755-3768.1987.tb02610.x"},{"unstructured":"Riise, R., Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects. Acta Ophthalmol Scand Suppl, 1998(226): p. 1-28.","key":"9985_CR22"},{"doi-asserted-by":"crossref","unstructured":"H\u00e9on, E., C. Westall, R. Carmi, K. Elbedour, C. Panton, L. Mackeen, E.M. Stone, and V.C. Sheffield, Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Am J Med Genet A, 2005. 132a(3): p. 283-7.","key":"9985_CR23","DOI":"10.1002\/ajmg.a.30466"},{"issue":"50","key":"9985_CR24","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000032161","volume":"101","author":"K Mizumoto","year":"2022","unstructured":"Mizumoto K, Kato K, Fujinami K, Sugita T, Sugita I, Hattori A, Saitoh S, Ueno S, Tsunoda K, Iwata T, Kondo M (2022) A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report. Medicine (Baltimore) 101(50):e32161","journal-title":"Medicine (Baltimore)"},{"issue":"4","key":"9985_CR25","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1152\/physiolgenomics.00096.2016","volume":"49","author":"P Biswas","year":"2017","unstructured":"Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R (2017) Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. Physiol Genomics 49(4):216\u2013229","journal-title":"Physiol Genomics"},{"doi-asserted-by":"crossref","unstructured":"Singh, S.K., M. Gui, F. Koh, M.C. Yip, and A. Brown, Structure and activation mechanism of the BBSome membrane protein trafficking complex. Elife, 2020. 9","key":"9985_CR26","DOI":"10.7554\/eLife.53322"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-024-09985-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10633-024-09985-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-024-09985-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T18:06:11Z","timestamp":1727719571000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10633-024-09985-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,30]]},"references-count":26,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["9985"],"URL":"https:\/\/doi.org\/10.1007\/s10633-024-09985-8","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"type":"print","value":"0012-4486"},{"type":"electronic","value":"1573-2622"}],"subject":[],"published":{"date-parts":[[2024,7,30]]},"assertion":[{"value":"4 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 July 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"S.H.T receives financial support from Abeona Therapeutics, Inc and Emendo and is on the scientific and clinical advisory board for Nanoscope Therapeutics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"The study was conducted under the Columbia University Institutional Review Board-approved protocol IRB AAAR8743, and all procedures were performed in accordance with the tenets of the Declaration of Helsinki.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement of human rights"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement on the welfare of animals"}}]}}