{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:41:05Z","timestamp":1789180865699,"version":"build-2803163510"},"reference-count":33,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T00:00:00Z","timestamp":1491350400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2017,6]]},"DOI":"10.1038\/ejhg.2017.44","type":"journal-article","created":{"date-parts":[[2017,4,5]],"date-time":"2017-04-05T06:21:30Z","timestamp":1491373290000},"page":"725-734","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing"],"prefix":"10.1038","volume":"25","author":[{"given":"Mervyn G","family":"Thomas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gail DE","family":"Maconachie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viral","family":"Sheth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J","family":"McLean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Gottlob","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,4,5]]},"reference":[{"key":"BFejhg201744_CR1","doi-asserted-by":"publisher","first-page":"5201","DOI":"10.1167\/iovs.09-3486","volume":"50","author":"N Sarvananthan","year":"2009","unstructured":"Sarvananthan N, Surendran M, Roberts EO et al: The prevalence of nystagmus: the Leicestershire nystagmus survey. Invest Ophthalmol Vis Sci 2009; 50: 5201\u20135206.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg201744_CR2","doi-asserted-by":"publisher","first-page":"1278","DOI":"10.1136\/bjo.2005.070045","volume":"89","author":"RF Pilling","year":"2005","unstructured":"Pilling RF, Thompson JR, Gottlob I : Social and visual function in nystagmus. Br J Ophthalmol 2005; 89: 1278\u20131281.","journal-title":"Br J Ophthalmol"},{"key":"BFejhg201744_CR3","doi-asserted-by":"publisher","first-page":"981","DOI":"10.1136\/bjophthalmol-2011-301183","volume":"96","author":"RJ McLean","year":"2012","unstructured":"McLean RJ, Windridge KC, Gottlob I : Living with nystagmus: a qualitative study. Br J Ophthalmol 2012; 96: 981\u2013986.","journal-title":"Br J Ophthalmol"},{"key":"BFejhg201744_CR4","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1136\/bjo.2003.027102","volume":"88","author":"M Michaelides","year":"2004","unstructured":"Michaelides M, Hunt DM, Moore AT : The cone dysfunction syndromes. Br J Ophthalmol 2004; 88: 291\u2013297.","journal-title":"Br J Ophthalmol"},{"key":"BFejhg201744_CR5","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1097\/00055735-200010000-00007","volume":"11","author":"I Gottlob","year":"2000","unstructured":"Gottlob I : Nystagmus. Curr Opin Ophthalmol 2000; 11: 330\u2013335.","journal-title":"Curr Opin Ophthalmol"},{"key":"BFejhg201744_CR6","doi-asserted-by":"publisher","first-page":"1653","DOI":"10.1016\/j.ophtha.2011.01.028","volume":"118","author":"MG Thomas","year":"2011","unstructured":"Thomas MG, Kumar A, Mohammad S et al: Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology 2011; 118: 1653\u20131660.","journal-title":"Ophthalmology"},{"key":"BFejhg201744_CR7","doi-asserted-by":"publisher","first-page":"4086","DOI":"10.1093\/hmg\/ddu122","volume":"23","author":"MG Thomas","year":"2014","unstructured":"Thomas MG, Crosier M, Lindsay S et al: Abnormal retinal development associated with FRMD7 mutations. Hum Mol Genet 2014; 23: 4086\u20134093.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201744_CR8","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1016\/j.ajhg.2013.11.002","volume":"93","author":"JA Poulter","year":"2013","unstructured":"Poulter JA, Al-Araimi M, Conte I et al: Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet 2013; 93: 1143\u20131150.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201744_CR9","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1080\/08820530600613985","volume":"21","author":"RJ Leigh","year":"2006","unstructured":"Leigh RJ, Khanna S : What can acquired nystagmus tell us about congenital forms of nystagmus? Semin Ophthalmol 2006; 21: 83\u201386.","journal-title":"Semin Ophthalmol"},{"key":"BFejhg201744_CR10","doi-asserted-by":"publisher","first-page":"2714","DOI":"10.1016\/j.ophtha.2013.07.018","volume":"120","author":"H Lee","year":"2013","unstructured":"Lee H, Sheth V, Bibi M et al: Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. Ophthalmology 2013; 120: 2714\u20132724.","journal-title":"Ophthalmology"},{"key":"BFejhg201744_CR11","doi-asserted-by":"publisher","first-page":"1242","DOI":"10.1038\/ng1893","volume":"38","author":"P Tarpey","year":"2006","unstructured":"Tarpey P, Thomas S, Sarvananthan N et al: Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006; 38: 1242\u20131244.","journal-title":"Nat Genet"},{"key":"BFejhg201744_CR12","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1002\/humu.9492","volume":"28","author":"DF Schorderet","year":"2007","unstructured":"Schorderet DF, Tiab L, Gaillard MC et al: Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat 2007; 28: 525.","journal-title":"Hum Mutat"},{"key":"BFejhg201744_CR13","first-page":"S295","volume":"39","author":"S Daiger","year":"1998","unstructured":"Daiger S, Rossiter B, Greenberg J, Christoffels A, Hide W : Data services and software for identifying genes and mutations causing retinal degeneration. Invest Ophthalmol Vis Sci 1998; 39: S295.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg201744_CR14","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1016\/j.preteyeres.2007.01.001","volume":"26","author":"K Ray","year":"2007","unstructured":"Ray K, Chaki M, Sengupta M : Tyrosinase and ocular diseases: some novel thoughts on the molecular basis of oculocutaneous albinism type 1. Prog Retin Eye Res 2007; 26: 323\u2013358.","journal-title":"Prog Retin Eye Res"},{"key":"BFejhg201744_CR15","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.ajhg.2013.10.028","volume":"93","author":"S Bhatia","year":"2013","unstructured":"Bhatia S, Bengani H, Fish M et al: Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet 2013; 93: 1126\u20131134.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201744_CR16","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"JT den Dunnen","year":"2000","unstructured":"den Dunnen JT, Antonarakis SE : Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000; 15: 7\u201312.","journal-title":"Hum Mutat"},{"key":"BFejhg201744_CR17","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/nbt.2835","volume":"32","author":"JM Zook","year":"2014","unstructured":"Zook JM, Chapman B, Wang J et al: Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls. Nat Biotechnol 2014; 32: 246\u2013251.","journal-title":"Nat Biotechnol"},{"key":"BFejhg201744_CR18","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R : Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26: 589\u2013595.","journal-title":"Bioinformatics"},{"key":"BFejhg201744_CR19","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A et al: The Sequence Alignment\/Map format and SAMtools. Bioinformatics 2009; 25: 2078\u20132079.","journal-title":"Bioinformatics"},{"key":"BFejhg201744_CR20","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E et al: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297\u20131303.","journal-title":"Genome Res"},{"key":"BFejhg201744_CR21","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H : ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010; 38: e164.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg201744_CR22","doi-asserted-by":"publisher","first-page":"1461","DOI":"10.1093\/bioinformatics\/btt151","volume":"29","author":"Y Shi","year":"2013","unstructured":"Shi Y, Majewski J : FishingCNV: a graphical software package for detecting rare copy number variations in exome-sequencing data. Bioinformatics 2013; 29: 1461\u20131462.","journal-title":"Bioinformatics"},{"key":"BFejhg201744_CR23","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1038\/jid.2010.274","volume":"131","author":"M Chaki","year":"2011","unstructured":"Chaki M, Sengupta M, Mondal M et al: Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. J Invest Dermatol 2011; 131: 260\u2013262.","journal-title":"J Invest Dermatol"},{"key":"BFejhg201744_CR24","doi-asserted-by":"publisher","first-page":"2124","DOI":"10.1016\/j.ophtha.2014.06.006","volume":"121","author":"RL Gillespie","year":"2014","unstructured":"Gillespie RL, O'Sullivan J, Ashworth J et al: Personalized diagnosis and management of congenital cataract by next-generation sequencing. Ophthalmology 2014; 121: 2124\u201337.e1-2.","journal-title":"Ophthalmology"},{"key":"BFejhg201744_CR25","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1002\/ajmg.a.32654","volume":"149A","author":"WS Oetting","year":"2009","unstructured":"Oetting WS, Pietsch J, Brott MJ et al: The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A 2009; 149A: 466\u2013469.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201744_CR26","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1002\/ajmg.a.32939","volume":"149A","author":"PW Chiang","year":"2009","unstructured":"Chiang PW, Spector E, Tsai AC : Oculocutaneous albinism spectrum. Am J Med Genet A 2009; 149A: 1590\u20131591.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201744_CR27","doi-asserted-by":"publisher","first-page":"12281","DOI":"10.1074\/jbc.275.16.12281","volume":"275","author":"JF Berson","year":"2000","unstructured":"Berson JF, Frank DW, Calvo PA, Bieler BM, Marks MS : A common temperature-sensitive allelic form of human tyrosinase is retained in the endoplasmic reticulum at the nonpermissive temperature. J Biol Chem 2000; 275: 12281\u201312289.","journal-title":"J Biol Chem"},{"key":"BFejhg201744_CR28","doi-asserted-by":"publisher","first-page":"2306","DOI":"10.1167\/iovs.10-5685","volume":"52","author":"A Kumar","year":"2011","unstructured":"Kumar A, Gottlob I, Mclean RJ, Thomas S, Thomas MG, Proudlock FA : Clinical and oculomotor characteristics of albinism compared to FRMD7 associated infantile nystagmus. Invest Ophthalmol Visual Sci 2011; 52: 2306\u20132313.","journal-title":"Invest Ophthalmol Visual Sci"},{"key":"BFejhg201744_CR29","doi-asserted-by":"publisher","first-page":"974","DOI":"10.1086\/302585","volume":"65","author":"S Annunen","year":"1999","unstructured":"Annunen S, Korkko J, Czarny M et al: Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall\/Stickler phenotypes. Am J Hum Genet 1999; 65: 974\u2013983.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201744_CR30","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1002\/ajmg.1320420316","volume":"42","author":"J Zlotogora","year":"1992","unstructured":"Zlotogora J, Sagi M, Schuper A, Leiba H, Merin S : Variability of Stickler syndrome. Am J Med Genet 1992; 42: 337\u2013339.","journal-title":"Am J Med Genet"},{"key":"BFejhg201744_CR31","doi-asserted-by":"publisher","first-page":"891","DOI":"10.1001\/archotol.126.7.891","volume":"126","author":"AJ Griffith","year":"2000","unstructured":"Griffith AJ, Gebarski SS, Shepard NT, Kileny PR : Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome. Arch Otolaryngol Head Neck Surg 2000; 126: 891\u2013894.","journal-title":"Arch Otolaryngol Head Neck Surg"},{"key":"BFejhg201744_CR32","first-page":"1154","volume":"13","author":"S Lu","year":"2007","unstructured":"Lu S, Zhao C, Jiao H et al: Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis 2007; 13: 1154\u20131160.","journal-title":"Mol Vis"},{"key":"BFejhg201744_CR33","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1086\/522235","volume":"81","author":"RP Stokowski","year":"2007","unstructured":"Stokowski RP, Pant PV, Dadd T et al: A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet 2007; 81: 1119\u20131132.","journal-title":"Am J Hum Genet"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201744.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201744","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/ejhg.2017.44","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201744.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T13:18:49Z","timestamp":1684415929000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201744"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,5]]},"references-count":33,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2017,6]]}},"alternative-id":["BFejhg201744"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2017.44","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,5]]},"assertion":[{"value":"4 September 2016","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 February 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 April 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}