{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:21:11Z","timestamp":1792783271391,"version":"4.5.0"},"reference-count":214,"publisher":"Springer Science and Business Media LLC","issue":"3-4","license":[{"start":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T00:00:00Z","timestamp":1648598400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T00:00:00Z","timestamp":1648598400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-15-RHUS-0001"],"award-info":[{"award-number":["ANR-15-RHUS-0001"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-17-CE16-0017"],"award-info":[{"award-number":["ANR-17-CE16-0017"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-ENM3-0003-04"],"award-info":[{"award-number":["ANR-21-ENM3-0003-04"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013349","name":"LABoratoires d\u2019EXcellence ARCANE","doi-asserted-by":"publisher","award":["ANR-10-LABX-65"],"award-info":[{"award-number":["ANR-10-LABX-65"]}],"id":[{"id":"10.13039\/100013349","id-type":"DOI","asserted-by":"publisher"}]},{"name":"LHW-Stiftung","award":["LHW-Stiftung"],"award-info":[{"award-number":["LHW-Stiftung"]}],"id":[{"id":"https:\/\/ror.org\/00bcqwz55","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/100014865","name":"Fondation Maladies Rares","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100014865","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100013875","name":"Retina-France","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100013875","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Foundation pour l'Audition","id":[{"id":"https:\/\/ror.org\/00vxrr224","id-type":"ROR","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Usher syndrome (USH) is the most common cause of deaf\u2013blindness in humans, with a prevalence of about 1\/10,000 (~\u2009400,000 people worldwide). Cochlear implants are currently used to reduce the burden of hearing loss in severe-to-profoundly deaf patients, but many promising treatments including gene, cell, and drug therapies to restore the native function of the inner ear and retinal sensory cells are under investigation. The traditional clinical classification of Usher syndrome defines three major subtypes\u2014USH1, 2 and 3\u2014according to hearing loss severity and onset, the presence or absence of vestibular dysfunction, and age at onset of retinitis pigmentosa. Pathogenic variants of nine USH genes have been initially reported:\n                    <jats:italic>MYO7A, USH1C, PCDH15, CDH23<\/jats:italic>\n                    , and\n                    <jats:italic>USH1G<\/jats:italic>\n                    for USH1,\n                    <jats:italic>USH2A, ADGRV1,<\/jats:italic>\n                    and\n                    <jats:italic>WHRN<\/jats:italic>\n                    for USH2, and\n                    <jats:italic>CLRN1<\/jats:italic>\n                    for USH3. Based on the co-occurrence of hearing and vision deficits, the list of USH genes has been extended to few other genes, but with limited supporting information. A consensus on combined criteria for Usher syndrome is crucial for the development of accurate diagnosis and to improve patient management. In recent years, a wealth of information has been obtained concerning the properties of the Usher proteins, related molecular networks, potential genotype\u2013phenotype correlations, and the pathogenic mechanisms underlying the impairment or loss of hearing, balance and vision. The advent of precision medicine calls for a clear and more precise diagnosis of Usher syndrome, exploiting all the existing data to develop a combined clinical\/genetic\/network\/functional classification for Usher syndrome.\n                  <\/jats:p>","DOI":"10.1007\/s00439-022-02448-7","type":"journal-article","created":{"date-parts":[[2022,3,30]],"date-time":"2022-03-30T08:36:32Z","timestamp":1648629392000},"page":"709-735","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":127,"title":["The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification"],"prefix":"10.1007","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2092-5097","authenticated-orcid":false,"given":"Sedigheh","family":"Delmaghani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2692-4984","authenticated-orcid":false,"given":"Aziz","family":"El-Amraoui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,30]]},"reference":[{"key":"2448_CR1","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1111\/j.1399-0004.2011.01772.x","volume":"82","author":"C Abadie","year":"2012","unstructured":"Abadie C, Blanchet C, Baux D, Larrieu L, Besnard T, Ravel P, Biboulet R, Hamel C, Malcolm S, Mondain M, Claustres M, Roux AF (2012) Audiological findings in 100 USH2 patients. Clin Genet 82:433\u2013438. https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01772.x","journal-title":"Clin Genet"},{"key":"2448_CR2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2020.100736","volume":"19","author":"V Abad-Morales","year":"2020","unstructured":"Abad-Morales V, Navarro R, Bures-Jelstrup A, Pomares E (2020) Identification of a novel homozygous ARSG mutation as the second cause of Usher syndrome type 4. Am J Ophthalmol Case Rep 19:100736. https:\/\/doi.org\/10.1016\/j.ajoc.2020.100736","journal-title":"Am J Ophthalmol Case Rep"},{"key":"2448_CR3","doi-asserted-by":"publisher","first-page":"14775","DOI":"10.1073\/pnas.0914206107","volume":"107","author":"M Abitbol","year":"2010","unstructured":"Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hedan B, Dreano S, Brahimi S, Delattre D, Andre C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L (2010) A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775\u201314780. https:\/\/doi.org\/10.1073\/pnas.0914206107","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2448_CR4","doi-asserted-by":"publisher","first-page":"3921","DOI":"10.1093\/hmg\/ddi416","volume":"14","author":"A Adato","year":"2005","unstructured":"Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, Weil D, El-Amraoui A, Petit C (2005a) Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet 14:3921\u20133932","journal-title":"Hum Mol Genet"},{"key":"2448_CR5","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1093\/hmg\/ddi031","volume":"14","author":"A Adato","year":"2005","unstructured":"Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C (2005b) Interactions in the network of Usher syndrome type 1 proteins. Hum Mol Genet 14:347\u2013356. https:\/\/doi.org\/10.1093\/hmg\/ddi031","journal-title":"Hum Mol Genet"},{"key":"2448_CR6","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1038\/sj.ejhg.5200831","volume":"10","author":"A Adato","year":"2002","unstructured":"Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millan JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D (2002) USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 10:339\u2013350","journal-title":"Eur J Hum Genet"},{"key":"2448_CR7","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1007\/s10162-017-0634-8","volume":"18","author":"H Ahmed","year":"2017","unstructured":"Ahmed H, Shubina-Oleinik O, Holt JR (2017) Emerging gene therapies for genetic hearing loss. J Assoc Res Otolaryngol 18:649\u2013670. https:\/\/doi.org\/10.1007\/s10162-017-0634-8","journal-title":"J Assoc Res Otolaryngol"},{"key":"2448_CR8","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1136\/jmedgenet-2017-105221","volume":"55","author":"ZM Ahmed","year":"2018","unstructured":"Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S (2018) Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. J Med Genet 55:479\u2013488. https:\/\/doi.org\/10.1136\/jmedgenet-2017-105221","journal-title":"J Med Genet"},{"key":"2448_CR9","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1086\/321277","volume":"69","author":"ZM Ahmed","year":"2001","unstructured":"Ahmed ZM, Riazuddin S, Bernstein SL, Ahmed Z, Khan S, Griffith AJ, Morell RJ, Friedman TB, Riazuddin S, Wilcox ER (2001) Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. Am J Hum Genet 69:25\u201334","journal-title":"Am J Hum Genet"},{"key":"2448_CR10","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1007\/s00439-002-0732-4","volume":"110","author":"ZM Ahmed","year":"2002","unstructured":"Ahmed ZM, Smith TN, Riazuddin S, Makishima T, Ghosh M, Bokhari S, Menon PS, Deshmukh D, Griffith AJ, Friedman TB, Wilcox ER (2002) Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC. Hum Genet 110:527\u2013531","journal-title":"Hum Genet"},{"key":"2448_CR11","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1111\/j.1399-0004.2004.00352.x","volume":"66","author":"E Aller","year":"2004","unstructured":"Aller E, Jaijo T, Oltra S, Alio J, Galan F, Najera C, Beneyto M, Millan JM (2004) Mutation screening of USH3 gene (clarin-1) in Spanish patients with Usher syndrome: low prevalence and phenotypic variability. Clin Genet 66:525\u2013529. https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00352.x","journal-title":"Clin Genet"},{"key":"2448_CR12","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1146\/annurev.genom.9.081307.164204","volume":"9","author":"A Antonellis","year":"2008","unstructured":"Antonellis A, Green ED (2008) The role of aminoacyl-tRNA synthetases in genetic diseases. Annu Rev Genomics Hum Genet 9:87\u2013107. https:\/\/doi.org\/10.1146\/annurev.genom.9.081307.164204","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"2448_CR13","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1186\/s13023-014-0168-7","volume":"9","author":"MJ Aparisi","year":"2014","unstructured":"Aparisi MJ, Aller E, Fuster-Garcia C, Garcia-Garcia G, Rodrigo R, Vazquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millan JM (2014) Targeted next generation sequencing for molecular diagnosis of Usher syndrome. Orphanet J Rare Dis 9:168. https:\/\/doi.org\/10.1186\/s13023-014-0168-7","journal-title":"Orphanet J Rare Dis"},{"key":"2448_CR14","doi-asserted-by":"publisher","first-page":"998","DOI":"10.1002\/humu.23993","volume":"41","author":"G Ascari","year":"2020","unstructured":"Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F (2020) Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Hum Mutat 41:998\u20131011. https:\/\/doi.org\/10.1002\/humu.23993","journal-title":"Hum Mutat"},{"key":"2448_CR15","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2020.107947","author":"C Askew","year":"2020","unstructured":"Askew C, Chien WW (2020) Adeno-associated virus gene replacement for recessive inner ear dysfunction: progress and challenges. Hear Res. https:\/\/doi.org\/10.1016\/j.heares.2020.107947","journal-title":"Hear Res"},{"key":"2448_CR16","doi-asserted-by":"publisher","first-page":"3557","DOI":"10.1093\/hmg\/ddq271","volume":"19","author":"A Bahloul","year":"2010","unstructured":"Bahloul A, Michel V, Hardelin J-P, Nouaille S, Hoos S, Houdusse A, England P, Petit C (2010) Cadherin-23, myosin VIIa and harmonin, encoded by Usher syndrome type I genes, form a ternary complex and interact with membrane phospholipids. Hum Mol Genet 19:3557\u20133565","journal-title":"Hum Mol Genet"},{"key":"2448_CR17","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1111\/j.1399-0004.2010.01500.x","volume":"78","author":"R Bashir","year":"2010","unstructured":"Bashir R, Fatima A, Naz S (2010) A frameshift mutation in SANS results in atypical Usher syndrome. Clin Genet 78:601\u2013603. https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01500.x","journal-title":"Clin Genet"},{"key":"2448_CR18","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1016\/j.molmed.2003.09.004","volume":"9","author":"T Ben-Yosef","year":"2003","unstructured":"Ben-Yosef T, Friedman TB (2003) The genetic bases for syndromic and nonsyndromic deafness among Jews. Trends Mol Med 9:496\u2013502. https:\/\/doi.org\/10.1016\/j.molmed.2003.09.004","journal-title":"Trends Mol Med"},{"key":"2448_CR19","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1007\/BF01189064","volume":"24","author":"JC Besharse","year":"1995","unstructured":"Besharse JC, Wetzel MG (1995) Immunocytochemical localization of opsin in rod photoreceptors during periods of rapid disc assembly. J Neurocytol 24:371\u2013388","journal-title":"J Neurocytol"},{"key":"2448_CR20","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1001\/jamaophthalmol.2014.4498","volume":"133","author":"F Blanco-Kelly","year":"2015","unstructured":"Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, Lopez-Molina MI, Gimenez A, Garcia-Sandoval B, Millan JM, Ayuso C (2015) Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol 133:157\u2013164. https:\/\/doi.org\/10.1001\/jamaophthalmol.2014.4498","journal-title":"JAMA Ophthalmol"},{"key":"2448_CR21","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.1073\/pnas.1217121110","volume":"110","author":"JL Blankman","year":"2013","unstructured":"Blankman JL, Long JZ, Trauger SA, Siuzdak G, Cravatt BF (2013) ABHD12 controls brain lysophosphatidylserine pathways that are deregulated in a murine model of the neurodegenerative disease PHARC. Proc Natl Acad Sci U S A 110:1500\u20131505. https:\/\/doi.org\/10.1073\/pnas.1217121110","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2448_CR22","doi-asserted-by":"publisher","first-page":"6689","DOI":"10.1093\/emboj\/cdf689","volume":"21","author":"B Boeda","year":"2002","unstructured":"Boeda B, El-Amraoui A, Bahloul A, Goodyear R, Daviet L, Blanchard S, Perfettini I, Fath KR, Shorte S, Reiners J, Houdusse A, Legrain P, Wolfrum U, Richardson G, Petit C (2002) Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle. EMBO J 21:6689\u20136699","journal-title":"EMBO J"},{"key":"2448_CR23","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1038\/83667","volume":"27","author":"H Bolz","year":"2001","unstructured":"Bolz H, von Brederlow B, Ramirez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del Maria CSC, Vila MC, Molina OP, Gal A, Kubisch C (2001) Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D. Nat Genet 27:108\u2013112. https:\/\/doi.org\/10.1038\/83667","journal-title":"Nat Genet"},{"key":"2448_CR24","doi-asserted-by":"publisher","DOI":"10.1515\/medgen-2020-2023","author":"HJ Bolz","year":"2020","unstructured":"Bolz HJ (2020) Usher syndrome: diagnostic approach, differential diagnoses and proposal of an updated function-based genetic classification. Med Gen. https:\/\/doi.org\/10.1515\/medgen-2020-2023","journal-title":"Med Gen"},{"key":"2448_CR25","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1097\/WCO.0b013e32834ef8b2","volume":"25","author":"C Bonnet","year":"2012","unstructured":"Bonnet C, El-Amraoui A (2012) Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol 25:42\u201349. https:\/\/doi.org\/10.1097\/WCO.0b013e32834ef8b2","journal-title":"Curr Opin Neurol"},{"key":"2448_CR26","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1186\/1750-1172-6-21","volume":"6","author":"C Bonnet","year":"2011","unstructured":"Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Delepine M, Feldmann D, Jonard L, El-Amraoui A, Weil D, Delobel B, Vincent C, Dollfus H, Eliot MM, David A, Calais C, Vigneron J, Montaut-Verient B, Bonneau D, Dubin J, Thauvin C, Duvillard A, Francannet C, Mom T, Lacombe D, Duriez F, Drouin-Garraud V, Thuillier-Obstoy MF, Sigaudy S, Frances AM, Collignon P, Challe G, Couderc R, Lathrop M, Sahel JA, Weissenbach J, Petit C, Denoyelle F (2011) Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis 6:21. https:\/\/doi.org\/10.1186\/1750-1172-6-21","journal-title":"Orphanet J Rare Dis"},{"key":"2448_CR27","doi-asserted-by":"publisher","first-page":"1730","DOI":"10.1038\/ejhg.2016.99","volume":"24","author":"C Bonnet","year":"2016","unstructured":"Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefevre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Said S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavac D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Moller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C (2016) An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. Eur J Hum Genet 24:1730\u20131738. https:\/\/doi.org\/10.1038\/ejhg.2016.99","journal-title":"Eur J Hum Genet"},{"key":"2448_CR28","doi-asserted-by":"publisher","first-page":"2957","DOI":"10.1002\/ajmg.a.37274","volume":"167A","author":"KT Booth","year":"2015","unstructured":"Booth KT, Azaiez H, Kahrizi K, Simpson AC, Tollefson WT, Sloan CM, Meyer NC, Babanejad M, Ardalani F, Arzhangi S, Schnieders MJ, Najmabadi H, Smith RJ (2015) PDZD7 and hearing loss: more than just a modifier. Am J Med Genet A 167A:2957\u20132965. https:\/\/doi.org\/10.1002\/ajmg.a.37274","journal-title":"Am J Med Genet A"},{"key":"2448_CR29","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1111\/cge.13170","volume":"93","author":"KT Booth","year":"2018","unstructured":"Booth KT, Kahrizi K, Babanejad M, Daghagh H, Bademci G, Arzhangi S, Zareabdollahi D, Duman D, El-Amraoui A, Tekin M, Najmabadi H, Azaiez H, Smith RJ (2018) Variants in CIB2 cause DFNB48 and not USH1J. Clin Genet 93:812\u2013821. https:\/\/doi.org\/10.1111\/cge.13170","journal-title":"Clin Genet"},{"key":"2448_CR30","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1086\/316954","volume":"68","author":"JM Bork","year":"2001","unstructured":"Bork JM, Peters LM, Riazuddin S, Bernstein SL, Ahmed ZM, Ness SL, Polomeno R, Ramesh A, Schloss M, Srisailpathy CRS, Wayne S, Bellman S, Desmukh D, Ahmed Z, Khan SN, Der Kaloustian VM, Li XC, Lalwani A, Riazuddin S, Bitner-Glindzicz M, Nance WE, Liu X-Z, Wistow G, Smith RJH, Griffith AJ, Wilcox ER, Friedman TB, Morell RJ (2001) Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet 68:26\u201337","journal-title":"Am J Hum Genet"},{"key":"2448_CR31","doi-asserted-by":"publisher","first-page":"737632","DOI":"10.3389\/fgeed.2021.737632","volume":"3","author":"C Botto","year":"2021","unstructured":"Botto C, Dalkara D, El-Amraoui A (2021) Progress in gene editing tools and their potential for correcting mutations underlying hearing and vision loss. Front Gene Ed 3:737632. https:\/\/doi.org\/10.3389\/fgeed.2021.737632","journal-title":"Front Gene Ed"},{"key":"2448_CR32","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1159\/000368399","volume":"61","author":"MR Bowl","year":"2015","unstructured":"Bowl MR, Dawson SJ (2015) The mouse as a model for age-related hearing loss - a mini-review. Gerontology 61:149\u2013157. https:\/\/doi.org\/10.1159\/000368399","journal-title":"Gerontology"},{"key":"2448_CR33","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1083\/jcb.19.1.79","volume":"19","author":"PK Brown","year":"1963","unstructured":"Brown PK, Gibbons IR, Wald G (1963) The visual cells and visual pigment of the mudpuppy, Necturus. J Cell Biol 19:79\u2013106","journal-title":"J Cell Biol"},{"key":"2448_CR34","doi-asserted-by":"publisher","first-page":"2713","DOI":"10.1242\/jcs.184093","volume":"129","author":"K Brunk","year":"2016","unstructured":"Brunk K, Zhu M, Barenz F, Kratz AS, Haselmann-Weiss U, Antony C, Hoffmann I (2016) Cep78 is a new centriolar protein involved in Plk4-induced centriole overduplication. J Cell Sci 129:2713\u20132718. https:\/\/doi.org\/10.1242\/jcs.184093","journal-title":"J Cell Sci"},{"key":"2448_CR35","doi-asserted-by":"publisher","first-page":"169","DOI":"10.4161\/bioa.1.4.17532","volume":"1","author":"E Caberlotto","year":"2011","unstructured":"Caberlotto E, Michel V, de Monvel JB, Petit C (2011) Coupling of the mechanotransduction machinery and F-actin polymerization in the cochlear hair bundles. BioArchitecture 1:169\u2013174. https:\/\/doi.org\/10.4161\/bioa.1.4.17532","journal-title":"BioArchitecture"},{"key":"2448_CR36","doi-asserted-by":"publisher","DOI":"10.1101\/2021.11.07.467597","author":"SDC Cadoni","year":"2021","unstructured":"Cadoni SDC, Provansal M, Nguyen D, Nelidova D, Labernede G, Alcala I, Lubetzki J, Goulet R, Burban E, D\u00e9gardin J, Simonutti M, Gauvain G, Arcizet F, Marre O, Dalkara D, Roska B, Sahel JA, Tanter M, Picaud S (2021) Sonogenetic stimulation of the brain at a spatiotemporal resolution suitable for vision restoration. BioRxiv. https:\/\/doi.org\/10.1101\/2021.11.07.467597","journal-title":"BioRxiv"},{"key":"2448_CR37","doi-asserted-by":"publisher","first-page":"42","DOI":"10.3390\/audiolres12010005","volume":"12","author":"A Castiglione","year":"2022","unstructured":"Castiglione A, Moller C (2022) Usher syndrome. Audiol Res 12:42\u201365. https:\/\/doi.org\/10.3390\/audiolres12010005","journal-title":"Audiol Res"},{"key":"2448_CR38","doi-asserted-by":"publisher","first-page":"36070","DOI":"10.1074\/jbc.M114.610535","volume":"289","author":"Q Chen","year":"2014","unstructured":"Chen Q, Zou J, Shen Z, Zhang W, Yang J (2014) Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem 289:36070\u201336088. https:\/\/doi.org\/10.1074\/jbc.M114.610535","journal-title":"J Biol Chem"},{"key":"2448_CR39","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/mt.2015.150","volume":"24","author":"WW Chien","year":"2016","unstructured":"Chien WW, Isgrig K, Roy S, Belyantseva IA, Drummond MC, May LA, Fitzgerald TS, Friedman TB, Cunningham LL (2016) Gene therapy restores hair cell stereocilia morphology in inner ears of deaf whirler mice. Mol Ther 24:17\u201325. https:\/\/doi.org\/10.1038\/mt.2015.150","journal-title":"Mol Ther"},{"key":"2448_CR40","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1111\/j.1469-185X.1963.tb00789.x","volume":"38","author":"AI Cohen","year":"1963","unstructured":"Cohen AI (1963) Vertebrate retinal cells and their organization. Biol Rev Cambridge Philos Soc 38:427\u2013459","journal-title":"Biol Rev Cambridge Philos Soc"},{"key":"2448_CR41","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/j.biocel.2013.11.001","volume":"46","author":"D Cosgrove","year":"2014","unstructured":"Cosgrove D, Zallocchi M (2014) Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol 46:80\u201389. https:\/\/doi.org\/10.1016\/j.biocel.2013.11.001","journal-title":"Int J Biochem Cell Biol"},{"key":"2448_CR42","doi-asserted-by":"publisher","DOI":"10.3389\/fnins.2021.652215","volume":"15","author":"R Crane","year":"2021","unstructured":"Crane R, Conley SM, Al-Ubaidi MR, Naash MI (2021) Gene therapy to the retina and the cochlea. Front Neurosci 15:652215. https:\/\/doi.org\/10.3389\/fnins.2021.652215","journal-title":"Front Neurosci"},{"key":"2448_CR43","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10132915","author":"C Davies","year":"2021","unstructured":"Davies C, Bergman J, Misztal C, Ramchandran R, Mittal J, Bulut E, Shah V, Mittal R, Eshraghi AA (2021) The outcomes of cochlear implantation in Usher syndrome: a systematic review. J Clin Med. https:\/\/doi.org\/10.3390\/jcm10132915","journal-title":"J Clin Med"},{"key":"2448_CR44","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0168966","volume":"11","author":"M de Castro-Miro","year":"2016","unstructured":"de Castro-Miro M, Tonda R, Escudero-Ferruz P, Andres R, Mayor-Lorenzo A, Castro J, Ciccioli M, Hidalgo DA, Rodriguez-Ezcurra JJ, Farrando J, Perez-Santonja JJ, Cormand B, Marfany G, Gonzalez-Duarte R (2016) Novel candidate genes and a wide spectrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing. PLoS ONE 11:e0168966. https:\/\/doi.org\/10.1371\/journal.pone.0168966","journal-title":"PLoS ONE"},{"key":"2448_CR45","doi-asserted-by":"publisher","DOI":"10.3390\/jcm9072309","author":"S Delmaghani","year":"2020","unstructured":"Delmaghani S, El-Amraoui A (2020) Inner ear gene therapies take off: current promises and future challenges. J Clin Med. https:\/\/doi.org\/10.3390\/jcm9072309","journal-title":"J Clin Med"},{"key":"2448_CR46","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1097\/IIO.0000000000000378","volume":"61","author":"A Dinculescu","year":"2021","unstructured":"Dinculescu A, Link BA, Saperstein DA (2021) Retinal gene therapy for Usher syndrome: current developments, challenges, and perspectives. Int Ophthalmol Clin 61:109\u2013124. https:\/\/doi.org\/10.1097\/IIO.0000000000000378","journal-title":"Int Ophthalmol Clin"},{"key":"2448_CR47","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.exer.2018.05.015","volume":"173","author":"M Dona","year":"2018","unstructured":"Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E (2018) Usherin defects lead to early-onset retinal dysfunction in zebrafish. Exp Eye Res 173:148\u2013159. https:\/\/doi.org\/10.1016\/j.exer.2018.05.015","journal-title":"Exp Eye Res"},{"key":"2448_CR48","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1136\/jmg.2005.032086","volume":"43","author":"F Donaudy","year":"2006","unstructured":"Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P (2006) Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation. J Med Genet 43:157\u2013161. https:\/\/doi.org\/10.1136\/jmg.2005.032086","journal-title":"J Med Genet"},{"key":"2448_CR49","doi-asserted-by":"publisher","first-page":"2062346","DOI":"10.1155\/2018\/2062346","volume":"2018","author":"H Du","year":"2018","unstructured":"Du H, Ren R, Chen P, Xu Z, Wang Y (2018) Identification of binding partners of deafness-related protein PDZD7. Neural Plast 2018:2062346. https:\/\/doi.org\/10.1155\/2018\/2062346","journal-title":"Neural Plast"},{"key":"2448_CR50","doi-asserted-by":"publisher","first-page":"2441","DOI":"10.1016\/j.ymthe.2021.04.024","volume":"29","author":"K Dulla","year":"2021","unstructured":"Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E (2021) Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations. Mol Ther 29:2441\u20132455. https:\/\/doi.org\/10.1016\/j.ymthe.2021.04.024","journal-title":"Mol Ther"},{"key":"2448_CR51","doi-asserted-by":"publisher","first-page":"3382","DOI":"10.1172\/JCI94351","volume":"128","author":"D Dulon","year":"2018","unstructured":"Dulon D, Papal S, Patni P, Cortese M, Vincent PF, Tertrais M, Emptoz A, Tlili A, Bouleau Y, Michel V, Delmaghani S, Aghaie A, Pepermans E, Alegria-Prevot O, Akil O, Lustig L, Avan P, Safieddine S, Petit C, El-Amraoui A (2018) Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome. J Clin Invest 128:3382\u20133401. https:\/\/doi.org\/10.1172\/JCI94351","journal-title":"J Clin Invest"},{"key":"2448_CR52","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1172\/JCI39715","volume":"120","author":"I Ebermann","year":"2010","unstructured":"Ebermann I, Phillips JB, Liebau MC, Koenekoop RK, Schermer B, Lopez I, Schafer E, Roux AF, Dafinger C, Bernd A, Zrenner E, Claustres M, Blanco B, Nurnberg G, Nurnberg P, Ruland R, Westerfield M, Benzing T, Bolz HJ (2010) PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest 120:1812\u20131823. https:\/\/doi.org\/10.1172\/JCI39715","journal-title":"J Clin Invest"},{"key":"2448_CR53","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1007\/s00439-006-0304-0","volume":"121","author":"I Ebermann","year":"2007","unstructured":"Ebermann I, Scholl HP, Charbel Issa P, Becirovic E, Lamprecht J, Jurklies B, Millan JM, Aller E, Mitter D, Bolz H (2007) A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet 121:203\u2013211. https:\/\/doi.org\/10.1007\/s00439-006-0304-0","journal-title":"Hum Genet"},{"key":"2448_CR54","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1750-1172-7-59","volume":"7","author":"T Eisenberger","year":"2012","unstructured":"Eisenberger T, Slim R, Mansour A, Nauck M, Nurnberg G, Nurnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ (2012) Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis 7:59. https:\/\/doi.org\/10.1186\/1750-1172-7-59","journal-title":"Orphanet J Rare Dis"},{"key":"2448_CR55","doi-asserted-by":"publisher","first-page":"4593","DOI":"10.1242\/jcs.02636","volume":"118","author":"A El-Amraoui","year":"2005","unstructured":"El-Amraoui A, Petit C (2005) Usher I syndrome: unravelling the mechanisms that underlie the cohesion of the growing hair bundle in inner ear sensory cells. J Cell Sci 118:4593\u20134603. https:\/\/doi.org\/10.1242\/jcs.02636","journal-title":"J Cell Sci"},{"key":"2448_CR56","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/j.crvi.2013.12.004","volume":"337","author":"A El-Amraoui","year":"2014","unstructured":"El-Amraoui A, Petit C (2014) The retinal phenotype of Usher syndrome: pathophysiological insights from animal models. C R Biol 337:167\u2013177. https:\/\/doi.org\/10.1016\/j.crvi.2013.12.004","journal-title":"C R Biol"},{"key":"2448_CR57","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1093\/embo-reports\/kvf090","volume":"3","author":"A El-Amraoui","year":"2002","unstructured":"El-Amraoui A, Schonn J-S, K\u00fcssel-Andermann P, Blanchard S, Desnos C, Henry J-P, Wolfrum U, Darchen F, Petit C (2002) MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes. EMBO Rep 3:463\u2013470","journal-title":"EMBO Rep"},{"key":"2448_CR58","doi-asserted-by":"publisher","first-page":"9695","DOI":"10.1073\/pnas.1708894114","volume":"114","author":"A Emptoz","year":"2017","unstructured":"Emptoz A, Michel V, Lelli A, Akil O, Boutet de Monvel J, Lahlou G, Meyer A, Dupont T, Nouaille S, Ey E, Franca de Barros F, Beraneck M, Dulon D, Hardelin JP, Lustig L, Avan P, Petit C, Safieddine S (2017) Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G. Proc Natl Acad Sci U S A 114:9695\u20139700. https:\/\/doi.org\/10.1073\/pnas.1708894114","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2448_CR59","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1086\/342098","volume":"71","author":"RR Fields","year":"2002","unstructured":"Fields RR, Zhou G, Huang D, Davis JR, Moller C, Jacobson SG, Kimberling WJ, Sumegi J (2002) Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 71:607\u2013617. https:\/\/doi.org\/10.1086\/342098","journal-title":"Am J Hum Genet"},{"key":"2448_CR60","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1159\/000322473","volume":"70","author":"TB Friedman","year":"2011","unstructured":"Friedman TB, Schultz JM, Ahmed ZM, Tsilou ET, Brewer CC (2011) Usher syndrome: hearing loss with vision loss. Adv Otorhinolaryngol 70:56\u201365. https:\/\/doi.org\/10.1159\/000322473","journal-title":"Adv Otorhinolaryngol"},{"key":"2448_CR61","doi-asserted-by":"publisher","first-page":"338","DOI":"10.1080\/13816810.2021.1891552","volume":"42","author":"NH Fowler","year":"2021","unstructured":"Fowler NH, El-Rashedy MI, Chishti EA, Vander Kooi CW, Maldonado RS (2021) Multimodal imaging and genetic findings in a case of ARSG-related atypical Usher syndrome. Ophthalmic Genet 42:338\u2013343. https:\/\/doi.org\/10.1080\/13816810.2021.1891552","journal-title":"Ophthalmic Genet"},{"key":"2448_CR62","doi-asserted-by":"publisher","first-page":"190","DOI":"10.1136\/jmedgenet-2016-104166","volume":"54","author":"Q Fu","year":"2017","unstructured":"Fu Q, Xu M, Chen X, Sheng X, Yuan Z, Liu Y, Li H, Sun Z, Li H, Yang L, Wang K, Zhang F, Li Y, Zhao C, Sui R, Chen R (2017) CEP78 is mutated in a distinct type of Usher syndrome. J Med Genet 54:190\u2013195. https:\/\/doi.org\/10.1136\/jmedgenet-2016-104166","journal-title":"J Med Genet"},{"key":"2448_CR63","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22136723","author":"C Fuster-Garcia","year":"2021","unstructured":"Fuster-Garcia C, Garcia-Bohorquez B, Rodriguez-Munoz A, Aller E, Jaijo T, Millan JM, Garcia-Garcia G (2021) Usher Syndrome: Genetics of a Human Ciliopathy. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms22136723","journal-title":"Int J Mol Sci"},{"key":"2448_CR64","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1016\/j.omtn.2017.08.003","volume":"8","author":"C Fuster-Garcia","year":"2017","unstructured":"Fuster-Garcia C, Garcia-Garcia G, Gonzalez-Romero E, Jaijo T, Sequedo MD, Ayuso C, Vazquez-Manrique RP, Millan JM, Aller E (2017) USH2A gene editing using the CRISPR system. Mol Ther Nucleic Acids 8:529\u2013541. https:\/\/doi.org\/10.1016\/j.omtn.2017.08.003","journal-title":"Mol Ther Nucleic Acids"},{"key":"2448_CR65","doi-asserted-by":"publisher","first-page":"4701","DOI":"10.1167\/iovs.19-27470","volume":"60","author":"C Fuster-Garcia","year":"2019","unstructured":"Fuster-Garcia C, Garcia-Garcia G, Jaijo T, Blanco-Kelly F, Tian L, Hakonarson H, Ayuso C, Aller E, Millan JM (2019) Expanding the Genetic Landscape of Usher-Like Phenotypes. Invest Ophthalmol vis Sci 60:4701\u20134710. https:\/\/doi.org\/10.1167\/iovs.19-27470","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR66","doi-asserted-by":"publisher","first-page":"17113","DOI":"10.1038\/s41598-018-35085-0","volume":"8","author":"C Fuster-Garcia","year":"2018","unstructured":"Fuster-Garcia C, Garcia-Garcia G, Jaijo T, Fornes N, Ayuso C, Fernandez-Burriel M, Sanchez-De la Morena A, Aller E, Millan JM (2018) High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. Sci Rep 8:17113. https:\/\/doi.org\/10.1038\/s41598-018-35085-0","journal-title":"Sci Rep"},{"key":"2448_CR67","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1186\/1750-1172-6-65","volume":"6","author":"G Garcia-Garcia","year":"2011","unstructured":"Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E (2011) Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis 6:65. https:\/\/doi.org\/10.1186\/1750-1172-6-65","journal-title":"Orphanet J Rare Dis"},{"key":"2448_CR68","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2020.107932","volume":"394","author":"GGS Geleoc","year":"2020","unstructured":"Geleoc GGS, El-Amraoui A (2020) Disease mechanisms and gene therapy for Usher syndrome. Hear Res 394:107932. https:\/\/doi.org\/10.1016\/j.heares.2020.107932","journal-title":"Hear Res"},{"key":"2448_CR69","doi-asserted-by":"publisher","first-page":"2748","DOI":"10.1093\/hmg\/ddp210","volume":"18","author":"R Geng","year":"2009","unstructured":"Geng R, Geller SF, Hayashi T, Ray CA, Reh TA, Bermingham-McDonogh O, Jones SM, Wright CG, Melki S, Imanishi Y, Palczewski K, Alagramam KN, Flannery JG (2009) Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. Hum Mol Genet 18:2748\u20132760","journal-title":"Hum Mol Genet"},{"key":"2448_CR70","doi-asserted-by":"publisher","first-page":"13480","DOI":"10.1038\/s41598-017-13620-9","volume":"7","author":"R Geng","year":"2017","unstructured":"Geng R, Omar A, Gopal SR, Chen DH, Stepanyan R, Basch ML, Dinculescu A, Furness DN, Saperstein D, Hauswirth W, Lustig LR, Alagramam KN (2017) Modeling and preventing progressive hearing loss in usher syndrome III. Sci Rep 7:13480. https:\/\/doi.org\/10.1038\/s41598-017-13620-9","journal-title":"Sci Rep"},{"key":"2448_CR71","doi-asserted-by":"publisher","first-page":"6473","DOI":"10.1242\/jcs.01580","volume":"117","author":"D Gibbs","year":"2004","unstructured":"Gibbs D, Azarian SM, Lillo C, Kitamoto J, Klomp AE, Steel KP, Libby RT, Williams DS (2004) Role of myosin VIIa and Rab27a in the motility and localization of RPE melanosomes. J Cell Sci 117:6473\u20136483","journal-title":"J Cell Sci"},{"key":"2448_CR72","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1038\/s41467-017-00061-1","volume":"8","author":"APJ Giese","year":"2017","unstructured":"Giese APJ, Tang YQ, Sinha GP, Bowl MR, Goldring AC, Parker A, Freeman MJ, Brown SDM, Riazuddin S, Fettiplace R, Schafer WR, Frolenkov GI, Ahmed ZM (2017) CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nat Commun 8:43. https:\/\/doi.org\/10.1038\/s41467-017-00061-1","journal-title":"Nat Commun"},{"key":"2448_CR74","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1002\/emmm.201201438","volume":"4","author":"T Goldmann","year":"2012","unstructured":"Goldmann T, Overlack N, Moller F, Belakhov V, van Wyk M, Baasov T, Wolfrum U, Nagel-Wolfrum K (2012) A comparative evaluation of NB30, NB54 and PTC124 in translational read-through efficacy for treatment of an USH1C nonsense mutation. EMBO Mol Med 4:1186\u20131199. https:\/\/doi.org\/10.1002\/emmm.201201438","journal-title":"EMBO Mol Med"},{"key":"2448_CR75","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1002\/cne.20513","volume":"485","author":"RJ Goodyear","year":"2005","unstructured":"Goodyear RJ, Marcotti W, Kros CJ, Richardson GP (2005) Development and properties of stereociliary link types in hair cells of the mouse cochlea. J Comp Neurol 485:75\u201385","journal-title":"J Comp Neurol"},{"key":"2448_CR76","doi-asserted-by":"publisher","first-page":"11476","DOI":"10.1073\/pnas.1104161108","volume":"108","author":"M Grati","year":"2011","unstructured":"Grati M, Kachar B (2011) Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction. Proc Natl Acad Sci USA 108:11476\u201311481. https:\/\/doi.org\/10.1073\/pnas.1104161108","journal-title":"Proc Natl Acad Sci USA"},{"key":"2448_CR77","doi-asserted-by":"publisher","first-page":"14288","DOI":"10.1523\/JNEUROSCI.3071-12.2012","volume":"32","author":"M Grati","year":"2012","unstructured":"Grati M, Shin JB, Weston MD, Green J, Bhat MA, Gillespie PG, Kachar B (2012) Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J Neurosci 32:14288\u201314293. https:\/\/doi.org\/10.1523\/JNEUROSCI.3071-12.2012","journal-title":"J Neurosci"},{"key":"2448_CR78","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1038\/nn.2895","volume":"14","author":"FD Gregory","year":"2011","unstructured":"Gregory FD, Bryan KE, Pangrsic T, Calin-Jageman IE, Moser T, Lee A (2011) Harmonin inhibits presynaptic Ca(v)1.3 Ca(2+) channels in mouse inner hair cells. Nat Neurosci 14:1109\u20131111","journal-title":"Nat Neurosci"},{"key":"2448_CR79","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1016\/j.neuron.2009.04.006","volume":"62","author":"N Grillet","year":"2009","unstructured":"Grillet N, Xiong W, Reynolds A, Kazmierczak P, Sato T, Lillo C, Dumont RA, Hintermann E, Sczaniecka A, Schwander M, Williams D, Kachar B, Gillespie PG, Muller U (2009) Harmonin mutations cause mechanotransduction defects in cochlear hair cells. Neuron 62:375\u2013387","journal-title":"Neuron"},{"key":"2448_CR80","doi-asserted-by":"publisher","DOI":"10.1101\/2021.05.31.446123","author":"SSJ Grotz","year":"2021","unstructured":"Grotz SSJ, Wunderlich KA, Ellederova Z, Auch H, B\u00e4hr A, Runa-Vochozkova P, Plutniok J, Arnold V, Ardan T, Veith M, Santamaria G, Dhom G, Hitzl W, Kessler B, Kurome M, Zakharchenko V, Linnert J, Fischer A, Blutke A, D\u00f6ring A, Suchankova S, Popelar J, May-Simera H, Augwitz KL, Andenberghe LH, Wolf E, Nagel-Wolfrum K, Motlik JM, Fischer D, Wolfrum U, Klymiuk N (2021) Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of Usher syndrome. BioRxiv. https:\/\/doi.org\/10.1101\/2021.05.31.446123","journal-title":"BioRxiv"},{"key":"2448_CR81","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1002\/ajmg.a.38477","volume":"176","author":"J Guan","year":"2018","unstructured":"Guan J, Wang H, Lan L, Wang L, Yang J, Xie L, Yin Z, Xiong W, Zhao L, Wang D, Wang Q (2018) Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss. Am J Med Genet A 176:99\u2013106. https:\/\/doi.org\/10.1002\/ajmg.a.38477","journal-title":"Am J Med Genet A"},{"key":"2448_CR82","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.omtm.2018.11.003","volume":"13","author":"B Gyorgy","year":"2019","unstructured":"Gyorgy B, Meijer EJ, Ivanchenko MV, Tenneson K, Emond F, Hanlon KS, Indzhykulian AA, Volak A, Karavitaki KD, Tamvakologos PI, Vezina M, Berezovskii VK, Born RT, O\u2019Brien M, Lafond JF, Arsenijevic Y, Kenna MA, Maguire CA, Corey DP (2019) Gene transfer with AAV9-PHP.B rescues hearing in a mouse model of Usher syndrome 3A and transduces hair cells in a non-human primate. Mol Ther Methods Clin Dev 13:1\u201313. https:\/\/doi.org\/10.1016\/j.omtm.2018.11.003","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2448_CR83","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1007\/s00439-018-1936-6","volume":"137","author":"S Han","year":"2018","unstructured":"Han S, Liu X, Xie S, Gao M, Liu F, Yu S, Sun P, Wang C, Archacki S, Lu Z, Hu X, Qin Y, Qu Z, Huang Y, Lv Y, Tu J, Li J, Yimer TA, Jiang T, Tang Z, Luo D, Chen F, Liu M (2018) Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy. Hum Genet 137:779\u2013794. https:\/\/doi.org\/10.1007\/s00439-018-1936-6","journal-title":"Hum Genet"},{"key":"2448_CR84","doi-asserted-by":"publisher","first-page":"2651","DOI":"10.1167\/iovs.07-1505","volume":"49","author":"W Herrera","year":"2008","unstructured":"Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG (2008) Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol vis Sci 49:2651\u20132660","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR85","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1136\/bjo.81.1.46","volume":"81","author":"CI Hope","year":"1997","unstructured":"Hope CI, Bundey S, Proops D, Fielder AR (1997) Usher syndrome in the city of Birmingham\u2013prevalence and clinical classification. Br J Ophthalmol 81:46\u201353. https:\/\/doi.org\/10.1136\/bjo.81.1.46","journal-title":"Br J Ophthalmol"},{"key":"2448_CR86","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1002\/humu.23759","volume":"40","author":"XF Huang","year":"2019","unstructured":"Huang XF, Xiang L, Fang XL, Liu WQ, Zhuang YY, Chen ZJ, Shen RJ, Cheng W, Han RY, Zheng SS, Chen XJ, Liu X, Jin ZB (2019) Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa. Hum Mutat 40:1039\u20131045. https:\/\/doi.org\/10.1002\/humu.23759","journal-title":"Hum Mutat"},{"key":"2448_CR87","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1080\/13816810.2021.1946704","volume":"42","author":"AD Igelman","year":"2021","unstructured":"Igelman AD, Ku C, da Palma MM, Georgiou M, Schiff ER, Lam BL, Sankila EM, Ahn J, Pyers L, Vincent A, Ferraz Sallum JM, Zein WM, Oh JK, Maldonado RS, Ryu J, Tsang SH, Gorin MB, Webster AR, Michaelides M, Yang P, Pennesi ME (2021) Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic Genet 42:664\u2013673. https:\/\/doi.org\/10.1080\/13816810.2021.1946704","journal-title":"Ophthalmic Genet"},{"key":"2448_CR88","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1038\/s41467-018-08243-1","volume":"10","author":"K Isgrig","year":"2019","unstructured":"Isgrig K, McDougald DS, Zhu J, Wang HJ, Bennett J, Chien WW (2019) AAV2.7m8 is a powerful viral vector for inner ear gene therapy. Nat Commun 10:427. https:\/\/doi.org\/10.1038\/s41467-018-08243-1","journal-title":"Nat Commun"},{"key":"2448_CR89","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1016\/j.ymthe.2017.01.007","volume":"25","author":"K Isgrig","year":"2017","unstructured":"Isgrig K, Shteamer JW, Belyantseva IA, Drummond MC, Fitzgerald TS, Vijayakumar S, Jones SM, Griffith AJ, Friedman TB, Cunningham LL, Chien WW (2017) Gene therapy restores balance and auditory functions in a mouse model of Usher syndrome. Mol Ther 25:780\u2013791. https:\/\/doi.org\/10.1016\/j.ymthe.2017.01.007","journal-title":"Mol Ther"},{"key":"2448_CR90","doi-asserted-by":"publisher","first-page":"2405","DOI":"10.1093\/hmg\/ddn140","volume":"17","author":"SG Jacobson","year":"2008","unstructured":"Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS (2008) Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet 17:2405\u20132415. https:\/\/doi.org\/10.1093\/hmg\/ddn140","journal-title":"Hum Mol Genet"},{"key":"2448_CR91","doi-asserted-by":"publisher","first-page":"7924","DOI":"10.1167\/iovs.11-8313","volume":"52","author":"SG Jacobson","year":"2011","unstructured":"Jacobson SG, Cideciyan AV, Gibbs D, Sumaroka A, Roman AJ, Aleman TS, Schwartz SB, Olivares MB, Russell RC, Steinberg JD, Kenna MA, Kimberling WJ, Rehm HL, Williams DS (2011) Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol vis Sci 52:7924\u20137936. https:\/\/doi.org\/10.1167\/iovs.11-8313","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR92","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1097\/MAO.0000000000002054","volume":"40","author":"G Jouret","year":"2019","unstructured":"Jouret G, Poirsier C, Spodenkiewicz M, Jaquin C, Gouy E, Arndt C, Labrousse M, Gaillard D, Doco-Fenzy M, Lebre AS (2019) Genetics of Usher syndrome: new insights from a meta-analysis. Otol Neurotol 40:121\u2013129. https:\/\/doi.org\/10.1097\/MAO.0000000000002054","journal-title":"Otol Neurotol"},{"key":"2448_CR93","doi-asserted-by":"publisher","first-page":"13336","DOI":"10.1073\/pnas.97.24.13336","volume":"97","author":"B Kachar","year":"2000","unstructured":"Kachar B, Parakkal M, Kurc M, Zhao Y, Gillespie PG (2000) High-resolution structure of hair-cell tip links. Proc Natl Acad Sci U S A 97:13336\u201313341","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2448_CR94","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1007\/s00109-005-0719-4","volume":"83","author":"E Kalay","year":"2005","unstructured":"Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H (2005) A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. J Mol Med (berl) 83:1025\u20131032. https:\/\/doi.org\/10.1007\/s00109-005-0719-4","journal-title":"J Mol Med (berl)"},{"key":"2448_CR95","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1038\/s41598-017-01577-8","volume":"7","author":"AO Khan","year":"2017","unstructured":"Khan AO, Becirovic E, Betz C, Neuhaus C, Altmuller J, Maria Riedmayr L, Motameny S, Nurnberg G, Nurnberg P, Bolz HJ (2017) A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep 7:1411. https:\/\/doi.org\/10.1038\/s41598-017-01577-8","journal-title":"Sci Rep"},{"key":"2448_CR96","doi-asserted-by":"publisher","first-page":"1444","DOI":"10.1016\/j.ophtha.2010.10.047","volume":"118","author":"MI Khan","year":"2011","unstructured":"Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI (2011) CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology 118:1444\u20131448. https:\/\/doi.org\/10.1016\/j.ophtha.2010.10.047","journal-title":"Ophthalmology"},{"key":"2448_CR97","doi-asserted-by":"publisher","first-page":"1004","DOI":"10.1038\/gim.2017.227","volume":"20","author":"S Khateb","year":"2018","unstructured":"Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, Rivolta C, Sharon D (2018) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet Med 20:1004\u20131012. https:\/\/doi.org\/10.1038\/gim.2017.227","journal-title":"Genet Med"},{"key":"2448_CR98","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000002636","author":"S Khateb","year":"2019","unstructured":"Khateb S, Mohand-Sa\u00efd S, Nassisi M, Bonnet C, Roux A, Andrieu C, Antonio A, Condroyer C, Zeitz C, Devisme C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel J, Audo I (2019) Phenotypic characteristics of rod\u2013cone dystrophy associated with MYO7A mutations in a large French cohort. Retina. https:\/\/doi.org\/10.1097\/IAE.0000000000002636","journal-title":"Retina"},{"key":"2448_CR99","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1136\/jmedgenet-2014-102287","volume":"51","author":"S Khateb","year":"2014","unstructured":"Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D (2014) A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J Med Genet 51:460\u2013469. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102287","journal-title":"J Med Genet"},{"key":"2448_CR100","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1097\/GIM.0b013e3181e5afb8","volume":"12","author":"WJ Kimberling","year":"2010","unstructured":"Kimberling WJ, Hildebrand MS, Shearer AE, Jensen ML, Halder JA, Trzupek K, Cohn ES, Weleber RG, Stone EM, Smith RJ (2010) Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med 12:512\u2013516. https:\/\/doi.org\/10.1097\/GIM.0b013e3181e5afb8","journal-title":"Genet Med"},{"key":"2448_CR101","doi-asserted-by":"publisher","first-page":"1856","DOI":"10.1093\/hmg\/ddu603","volume":"24","author":"B Kowalewski","year":"2015","unstructured":"Kowalewski B, Heimann P, Ortkras T, Lullmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M (2015) Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III). Hum Mol Genet 24:1856\u20131868. https:\/\/doi.org\/10.1093\/hmg\/ddu603","journal-title":"Hum Mol Genet"},{"key":"2448_CR102","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl205","author":"H Kremer","year":"2006","unstructured":"Kremer H, van Wijk E, Marker T, Wolfrum U, Roepman R (2006) Usher syndrome: molecular links of pathogenesis, proteins and pathways. Hum Mol Genet. https:\/\/doi.org\/10.1093\/hmg\/ddl205","journal-title":"Hum Mol Genet"},{"key":"2448_CR103","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1167\/iovs.15-17645","volume":"57","author":"K Kruszewski","year":"2016","unstructured":"Kruszewski K, Lullmann-Rauch R, Dierks T, Bartsch U, Damme M (2016) Degeneration of photoreceptor cells in arylsulfatase G-Deficient mice. Invest Ophthalmol vis Sci 57:1120\u20131131. https:\/\/doi.org\/10.1167\/iovs.15-17645","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR104","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1080\/13816810.2018.1466338","volume":"39","author":"D Kubota","year":"2018","unstructured":"Kubota D, Gocho K, Kikuchi S, Akeo K, Miura M, Yamaki K, Takahashi H, Kameya S (2018) CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. Ophthalmic Genet 39:500\u2013507. https:\/\/doi.org\/10.1080\/13816810.2018.1466338","journal-title":"Ophthalmic Genet"},{"key":"2448_CR105","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1007\/s00709-013-0488-9","volume":"250","author":"A Kumar","year":"2013","unstructured":"Kumar A, Rajendran V, Sethumadhavan R, Purohit R (2013) CEP proteins: the knights of centrosome dynasty. Protoplasma 250:965\u2013983. https:\/\/doi.org\/10.1007\/s00709-013-0488-9","journal-title":"Protoplasma"},{"key":"2448_CR106","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1038\/nbt.3781","volume":"35","author":"LD Landegger","year":"2017","unstructured":"Landegger LD, Pan B, Askew C, Wassmer SJ, Gluck SD, Galvin A, Taylor R, Forge A, Stankovic KM, Holt JR, Vandenberghe LH (2017) A synthetic AAV vector enables safe and efficient gene transfer to the mammalian inner ear. Nat Biotechnol 35:280\u2013284. https:\/\/doi.org\/10.1038\/nbt.3781","journal-title":"Nat Biotechnol"},{"key":"2448_CR107","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20174174","author":"SY Lee","year":"2019","unstructured":"Lee SY, Han JH, Kim BJ, Oh SH, Lee S, Oh DY, Choi BY (2019) Identification of a potential founder effect of a novel PDZD7 variant involved in moderate-to-severe sensorineural hearing loss in Koreans. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms20174174","journal-title":"Int J Mol Sci"},{"key":"2448_CR108","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.1242\/dev.012922","volume":"135","author":"G Lefevre","year":"2008","unstructured":"Lefevre G, Michel V, Weil D, Lepelletier L, Bizard E, Wolfrum U, Hardelin JP, Petit C (2008) A core cochlear phenotype in USH1 mouse mutants implicates fibrous links of the hair bundle in its cohesion, orientation and differential growth. Development 135:1427\u20131437. https:\/\/doi.org\/10.1242\/dev.012922","journal-title":"Development"},{"key":"2448_CR109","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2019.07.006","volume":"381","author":"S Lenarduzzi","year":"2019","unstructured":"Lenarduzzi S, Morgan A, Faletra F, Cappellani S, Morgutti M, Mezzavilla M, Peruzzi A, Ghiselli S, Ambrosetti U, Graziano C, Seri M, Gasparini P, Girotto G (2019) Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss. Hear Res 381:107769. https:\/\/doi.org\/10.1016\/j.heares.2019.07.006","journal-title":"Hear Res"},{"key":"2448_CR110","doi-asserted-by":"publisher","first-page":"1318","DOI":"10.1038\/ejhg.2014.283","volume":"23","author":"E Lenassi","year":"2015","unstructured":"Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Heon E, Bitner-Glindzicz M, Webster AR (2015) A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. Eur J Hum Genet 23:1318\u20131327. https:\/\/doi.org\/10.1038\/ejhg.2014.283","journal-title":"Eur J Hum Genet"},{"key":"2448_CR111","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nm.3106","volume":"19","author":"JJ Lentz","year":"2013","unstructured":"Lentz JJ, Jodelka FM, Hinrich AJ, McCaffrey KE, Farris HE, Spalitta MJ, Bazan NG, Duelli DM, Rigo F, Hastings ML (2013) Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness. Nat Med 19:345\u2013350. https:\/\/doi.org\/10.1038\/nm.3106","journal-title":"Nat Med"},{"key":"2448_CR112","doi-asserted-by":"publisher","first-page":"2662","DOI":"10.1016\/j.ymthe.2020.08.002","volume":"28","author":"JJ Lentz","year":"2020","unstructured":"Lentz JJ, Pan B, Ponnath A, Tran CM, Nist-Lund C, Galvin A, Goldberg H, Robillard KN, Jodelka FM, Farris HE, Huang J, Chen T, Zhu H, Zhou W, Rigo F, Hastings ML, Geleoc GSG (2020) Direct delivery of antisense oligonucleotides to the middle and inner ear improves hearing and balance in Usher mice. Mol Ther 28:2662\u20132676. https:\/\/doi.org\/10.1016\/j.ymthe.2020.08.002","journal-title":"Mol Ther"},{"key":"2448_CR113","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.gene.2019.04.008","volume":"704","author":"T Li","year":"2019","unstructured":"Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J (2019) A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. Gene 704:113\u2013120. https:\/\/doi.org\/10.1016\/j.gene.2019.04.008","journal-title":"Gene"},{"issue":"2131\u20132149","key":"2448_CR114","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2021.05.007","volume":"109","author":"X Liang","year":"2021","unstructured":"Liang X, Qiu X, Dionne G, Cunningham CL, Pucak ML, Peng G, Kim YH, Lauer A, Shapiro L, Muller U (2021) CIB2 and CIB3 are auxiliary subunits of the mechanotransduction channel of hair cells. Neuron 109(2131\u20132149):e15. https:\/\/doi.org\/10.1016\/j.neuron.2021.05.007","journal-title":"Neuron"},{"key":"2448_CR115","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1038\/470","volume":"19","author":"X Liu","year":"1998","unstructured":"Liu X, Ondek B, Williams DS (1998a) Mutant myosin VIIa causes defective melanosome distribution in the RPE of shaker-1 mice. Nature Genet 19:117\u2013118","journal-title":"Nature Genet"},{"key":"2448_CR116","doi-asserted-by":"publisher","first-page":"6267","DOI":"10.1523\/JNEUROSCI.19-15-06267.1999","volume":"19","author":"X Liu","year":"1999","unstructured":"Liu X, Udovichenko IP, Brown SD, Steel KP, Williams DS (1999a) Myosin VIIa participates in opsin transport through the photoreceptor cilium. J Neurosci 19:6267\u20136274","journal-title":"J Neurosci"},{"key":"2448_CR117","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1002\/(SICI)1097-0169(1997)37:3<240::AID-CM6>3.0.CO;2-A","volume":"37","author":"X Liu","year":"1997","unstructured":"Liu X, Vansant G, Udovichenko IP, Wolfrum U, Williams DS (1997a) Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells. Cell Motil Cytoskeleton 37:240\u2013252","journal-title":"Cell Motil Cytoskeleton"},{"key":"2448_CR118","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1086\/302332","volume":"64","author":"XZ Liu","year":"1999","unstructured":"Liu XZ, Hope C, Liang CY, Zou JM, Xu LR, Cole T, Mueller RF, Bundey S, Nance W, Steel KP, Brown SD (1999b) A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation. Am J Hum Genet 64:1221\u20131225. https:\/\/doi.org\/10.1086\/302332","journal-title":"Am J Hum Genet"},{"key":"2448_CR119","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1086\/302026","volume":"63","author":"XZ Liu","year":"1998","unstructured":"Liu XZ, Hope C, Walsh J, Newton V, Ke XM, Liang CY, Xu LR, Zhou JM, Trump D, Steel KP, Bundey S, Brown SD (1998b) Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome. Am J Hum Genet 63:909\u2013912. https:\/\/doi.org\/10.1086\/302026","journal-title":"Am J Hum Genet"},{"key":"2448_CR120","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1038\/ng0697-188","volume":"16","author":"XZ Liu","year":"1997","unstructured":"Liu XZ, Walsh J, Mburu P, Kendrick-Jones J, Cope MJ, Steel KP, Brown SD (1997b) Mutations in the myosin VIIA gene cause non-syndromic recessive deafness. Nat Genet 16:188\u2013190. https:\/\/doi.org\/10.1038\/ng0697-188","journal-title":"Nat Genet"},{"key":"2448_CR121","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1038\/ng1197-268","volume":"17","author":"XZ Liu","year":"1997","unstructured":"Liu XZ, Walsh J, Tamagawa Y, Kitamura K, Nishizawa M, Steel KP, Brown SD (1997c) Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene. Nat Genet 17:268\u2013269. https:\/\/doi.org\/10.1038\/ng1197-268","journal-title":"Nat Genet"},{"key":"2448_CR122","doi-asserted-by":"publisher","first-page":"2560","DOI":"10.1093\/hmg\/ddr155","volume":"20","author":"VS Lopes","year":"2011","unstructured":"Lopes VS, Gibbs D, Libby RT, Aleman TS, Welch DL, Lillo C, Jacobson SG, Radu RA, Steel KP, Williams DS (2011) The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Hum Mol Genet 20:2560\u20132570","journal-title":"Hum Mol Genet"},{"key":"2448_CR123","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1097\/00129492-200303000-00015","volume":"24","author":"N Loundon","year":"2003","unstructured":"Loundon N, Marlin S, Busquet D, Denoyelle F, Roger G, Renaud F, Garabedian EN (2003) Usher syndrome and cochlear implantation. Otol Neurotol 24:216\u2013221","journal-title":"Otol Neurotol"},{"key":"2448_CR124","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a033191","author":"L Lustig","year":"2019","unstructured":"Lustig L, Akil O (2019) Cochlear gene therapy. Cold Spring Harb Perspect Med. https:\/\/doi.org\/10.1101\/cshperspect.a033191","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2448_CR125","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/j.gene.2019.05.045","volume":"709","author":"H Luo","year":"2019","unstructured":"Luo H, Hassan RN, Yan J, Xie J, Du P, Hu Q, Zhu Y, Jiang W (2019) Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree. Gene 709:65\u201374. https:\/\/doi.org\/10.1016\/j.gene.2019.05.045","journal-title":"Gene"},{"key":"2448_CR126","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1093\/hmg\/ddm285","volume":"17","author":"T Maerker","year":"2008","unstructured":"Maerker T, van Wijk E, Overlack N, Kersten FF, McGee J, Goldmann T, Sehn E, Roepman R, Walsh EJ, Kremer H, Wolfrum U (2008) A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet 17:71\u201386. https:\/\/doi.org\/10.1093\/hmg\/ddm285","journal-title":"Hum Mol Genet"},{"key":"2448_CR127","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1016\/j.ophtha.2019.06.017","volume":"126","author":"AM Maguire","year":"2019","unstructured":"Maguire AM, Russell S, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, Marshall KA, McCague S, Reichert H, Davis M, Simonelli F, Leroy BP, Wright JF, High KA, Bennett J (2019) Efficacy, safety, and durability of voretigene neparvovec-rzyl in RPE65 mutation-associated inherited retinal dystrophy: results of phase 1 and 3 trials. Ophthalmology 126:1273\u20131285. https:\/\/doi.org\/10.1016\/j.ophtha.2019.06.017","journal-title":"Ophthalmology"},{"key":"2448_CR128","doi-asserted-by":"publisher","first-page":"30","DOI":"10.5301\/ejo.2010.5433","volume":"21","author":"E Malm","year":"2011","unstructured":"Malm E, Ponjavic V, Moller C, Kimberling WJ, Stone ES, Andreasson S (2011) Alteration of rod and cone function in children with Usher syndrome. Eur J Ophthalmol 21:30\u201338. https:\/\/doi.org\/10.5301\/ejo.2010.5433","journal-title":"Eur J Ophthalmol"},{"key":"2448_CR129","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1097\/AUD.0000000000000095","volume":"36","author":"AM Maria Oonk","year":"2015","unstructured":"Maria Oonk AM, van Huet RA, Leijendeckers JM, Oostrik J, Venselaar H, van Wijk E, Beynon A, Kunst HP, Hoyng CB, Kremer H, Schraders M, Pennings RJ (2015) Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum. Ear Hear 36:205\u2013211. https:\/\/doi.org\/10.1097\/AUD.0000000000000095","journal-title":"Ear Hear"},{"key":"2448_CR400","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-022-02446-9","author":"A Marouf","year":"2022","unstructured":"Marouf A, Johnson B, Alagramam KN (2022) Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches. Hum Genet. https:\/\/doi.org\/10.1007\/s00439-022-02446-9","journal-title":"Hum Genet"},{"key":"2448_CR130","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1016\/j.bbadis.2014.11.020","volume":"1852","author":"P Mathur","year":"2015","unstructured":"Mathur P, Yang J (2015) Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta 1852:406\u2013420. https:\/\/doi.org\/10.1016\/j.bbadis.2014.11.020","journal-title":"Biochim Biophys Acta"},{"key":"2448_CR131","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1016\/j.heares.2019.02.007","volume":"375","author":"PD Mathur","year":"2019","unstructured":"Mathur PD, Yang J (2019) Usher syndrome and non-syndromic deafness: functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. Hear Res 375:14\u201324. https:\/\/doi.org\/10.1016\/j.heares.2019.02.007","journal-title":"Hear Res"},{"key":"2448_CR132","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1038\/ng1208","volume":"34","author":"P Mburu","year":"2003","unstructured":"Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD (2003) Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet 34:421\u2013428. https:\/\/doi.org\/10.1038\/ng1208","journal-title":"Nat Genet"},{"key":"2448_CR133","doi-asserted-by":"publisher","first-page":"6543","DOI":"10.1523\/JNEUROSCI.0693-06.2006","volume":"26","author":"J McGee","year":"2006","unstructured":"McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, Locke KG, Birch DG, Legan PK, White PC, Walsh EJ, Richardson GP (2006) The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. J Neurosci 26:6543\u20136553","journal-title":"J Neurosci"},{"key":"2448_CR134","doi-asserted-by":"publisher","first-page":"6478","DOI":"10.1523\/JNEUROSCI.0342-07.2007","volume":"27","author":"N Michalski","year":"2007","unstructured":"Michalski N, Michel V, Bahloul A, Lef\u00e8vre G, Barral J, Yagi H, Chardenoux S, Weil D, Martin P, Hardelin J-P, Sato M, Petit C (2007) Molecular characterization of the ankle link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci 27:6478\u20136488","journal-title":"J Neurosci"},{"key":"2448_CR135","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1007\/s00424-009-0711-x","volume":"459","author":"N Michalski","year":"2009","unstructured":"Michalski N, Michel V, Caberlotto E, Lefevre GM, van Aken AF, Tinevez JY, Bizard E, Houbron C, Weil D, Hardelin JP, Richardson GP, Kros CJ, Martin P, Petit C (2009) Harmonin-b, an actin-binding scaffold protein, is involved in the adaptation of mechanoelectrical transduction by sensory hair cells. Pfl\u00fcgers Arch 459:115\u2013130. https:\/\/doi.org\/10.1007\/s00424-009-0711-x","journal-title":"Pfl\u00fcgers Arch"},{"key":"2448_CR136","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1146\/annurev-neuro-070918-050428","volume":"42","author":"N Michalski","year":"2019","unstructured":"Michalski N, Petit C (2019) Genes involved in the development and physiology of both the peripheral and central auditory systems. Annu Rev Neurosci 42:67\u201386. https:\/\/doi.org\/10.1146\/annurev-neuro-070918-050428","journal-title":"Annu Rev Neurosci"},{"key":"2448_CR137","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.15252\/emmm.201708087","volume":"9","author":"V Michel","year":"2017","unstructured":"Michel V, Booth KT, Patni P, Cortese M, Azaiez H, Bahloul A, Kahrizi K, Labbe M, Emptoz A, Lelli A, Degardin J, Dupont T, Aghaie A, Oficjalska-Pham D, Picaud S, Najmabadi H, Smith RJ, Bowl MR, Brown SD, Avan P, Petit C, El-Amraoui A (2017) CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival. EMBO Mol Med 9:1711\u20131731. https:\/\/doi.org\/10.15252\/emmm.201708087","journal-title":"EMBO Mol Med"},{"key":"2448_CR138","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.048965","author":"A Miles","year":"2021","unstructured":"Miles A, Blair C, Emili A, Tropepe V (2021) Usher syndrome type 1-associated gene, pcdh15b, is required for photoreceptor structural integrity in zebrafish. Dis Model Mech. https:\/\/doi.org\/10.1242\/dmm.048965","journal-title":"Dis Model Mech"},{"key":"2448_CR139","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/417217","volume":"2011","author":"JM Millan","year":"2011","unstructured":"Millan JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C (2011) An update on the genetics of usher syndrome. J Ophthalmol 2011:417217. https:\/\/doi.org\/10.1155\/2011\/417217","journal-title":"J Ophthalmol"},{"key":"2448_CR140","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.18312","author":"CP Morgan","year":"2016","unstructured":"Morgan CP, Krey JF, Grati M, Zhao B, Fallen S, Kannan-Sundhari A, Liu XZ, Choi D, Muller U, Barr-Gillespie PG (2016) PDZD7-MYO7A complex identified in enriched stereocilia membranes. Elife. https:\/\/doi.org\/10.7554\/eLife.18312","journal-title":"Elife"},{"key":"2448_CR141","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/s40259-016-0157-6","volume":"30","author":"K Nagel-Wolfrum","year":"2016","unstructured":"Nagel-Wolfrum K, Moller F, Penner I, Baasov T, Wolfrum U (2016) Targeting nonsense mutations in diseases with translational read-through-inducing drugs (TRIDs). BioDrugs 30:49\u201374. https:\/\/doi.org\/10.1007\/s40259-016-0157-6","journal-title":"BioDrugs"},{"key":"2448_CR142","doi-asserted-by":"publisher","first-page":"1222","DOI":"10.1016\/j.ajhg.2016.09.012","volume":"99","author":"P Namburi","year":"2016","unstructured":"Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D (2016) Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss. Am J Hum Genet 99:1222\u20131223. https:\/\/doi.org\/10.1016\/j.ajhg.2016.09.012","journal-title":"Am J Hum Genet"},{"key":"2448_CR143","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1136\/jmg.2004.018523","volume":"41","author":"S Naz","year":"2004","unstructured":"Naz S, Griffith AJ, Riazuddin S, Hampton LL, Battey JF Jr, Khan SN, Riazuddin S, Wilcox ER, Friedman TB (2004) Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction. J Med Genet 41:591\u2013595. https:\/\/doi.org\/10.1136\/jmg.2004.018523","journal-title":"J Med Genet"},{"key":"2448_CR144","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1136\/jmg.40.10.767","volume":"40","author":"SL Ness","year":"2003","unstructured":"Ness SL, Ben-Yosef T, Bar-Lev A, Madeo AC, Brewer CC, Avraham KB, Kornreich R, Desnick RJ, Willner JP, Friedman TB, Griffith AJ (2003) Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 40:767\u2013772","journal-title":"J Med Genet"},{"key":"2448_CR145","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1002\/mgg3.312","volume":"5","author":"C Neuhaus","year":"2017","unstructured":"Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Muller-Hofstede C, Charbel Issa P, Heller R, Beck B, Ruther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stohr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ (2017) Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med 5:531\u2013552. https:\/\/doi.org\/10.1002\/mgg3.312","journal-title":"Mol Genet Genomic Med"},{"key":"2448_CR146","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/j.ajhg.2016.07.009","volume":"99","author":"K Nikopoulos","year":"2016","unstructured":"Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellstrom U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andreasson S, Rivolta C (2016) Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defects. Am J Hum Genet 99:770\u2013776. https:\/\/doi.org\/10.1016\/j.ajhg.2016.07.009","journal-title":"Am J Hum Genet"},{"key":"2448_CR147","doi-asserted-by":"publisher","DOI":"10.1097\/AUD.0000000000001066","author":"E Nisenbaum","year":"2021","unstructured":"Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X (2021) Review of genotype-phenotype correlations in Usher syndrome. Ear Hear. https:\/\/doi.org\/10.1097\/AUD.0000000000001066","journal-title":"Ear Hear"},{"key":"2448_CR148","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1016\/j.ophtha.2014.02.008","volume":"121","author":"KM Nishiguchi","year":"2014","unstructured":"Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Perez-Carro R, Martin-Garrido E, Lopez-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, Garcia-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, Garcia-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology 121:1620\u20131627. https:\/\/doi.org\/10.1016\/j.ophtha.2014.02.008","journal-title":"Ophthalmology"},{"key":"2448_CR149","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1080\/13816810.2020.1747090","volume":"41","author":"RM Nolen","year":"2020","unstructured":"Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM (2020) Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet 41:401\u2013412. https:\/\/doi.org\/10.1080\/13816810.2020.1747090","journal-title":"Ophthalmic Genet"},{"key":"2448_CR150","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/nmeth.1931","volume":"9","author":"S Orchard","year":"2012","unstructured":"Orchard S, Kerrien S, Abbani S, Aranda B, Bhate J, Bidwell S, Bridge A, Briganti L, Brinkman FS, Cesareni G, Chatr-aryamontri A, Chautard E, Chen C, Dumousseau M, Goll J, Hancock RE, Hannick LI, Jurisica I, Khadake J, Lynn DJ, Mahadevan U, Perfetto L, Raghunath A, Ricard-Blum S, Roechert B, Salwinski L, Stumpflen V, Tyers M, Uetz P, Xenarios I, Hermjakob H (2012) Protein interaction data curation: the International Molecular Exchange (IMEx) consortium. Nat Methods 9:345\u2013350. https:\/\/doi.org\/10.1038\/nmeth.1931","journal-title":"Nat Methods"},{"key":"2448_CR151","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1007\/s00439-002-0736-0","volume":"111","author":"XM Ouyang","year":"2002","unstructured":"Ouyang XM, Xia XJ, Verpy E, Du LL, Pandya A, Petit C, Balkany T, Nance WE, Liu XZ (2002) Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. Hum Genet 111:26\u201330. https:\/\/doi.org\/10.1007\/s00439-002-0736-0","journal-title":"Hum Genet"},{"key":"2448_CR152","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1007\/s00439-004-1227-2","volume":"116","author":"XM Ouyang","year":"2005","unstructured":"Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ (2005) Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. Hum Genet 116:292\u2013299. https:\/\/doi.org\/10.1007\/s00439-004-1227-2","journal-title":"Hum Genet"},{"key":"2448_CR153","doi-asserted-by":"publisher","first-page":"4140","DOI":"10.1167\/iovs.12-9812","volume":"53","author":"N Overlack","year":"2012","unstructured":"Overlack N, Goldmann T, Wolfrum U, Nagel-Wolfrum K (2012) Gene repair of an Usher syndrome causing mutation by zinc-finger nuclease mediated homologous recombination. Invest Ophthalmol vis Sci 53:4140\u20134146. https:\/\/doi.org\/10.1167\/iovs.12-9812","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR154","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1038\/nbt.3801","volume":"35","author":"B Pan","year":"2017","unstructured":"Pan B, Askew C, Galvin A, Heman-Ackah S, Asai Y, Indzhykulian AA, Jodelka FM, Hastings ML, Lentz JJ, Vandenberghe LH, Holt JR, Geleoc GS (2017) Gene therapy restores auditory and vestibular function in a mouse model of Usher syndrome type 1c. Nat Biotechnol 35:264\u2013272. https:\/\/doi.org\/10.1038\/nbt.3801","journal-title":"Nat Biotechnol"},{"key":"2448_CR155","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0133082","volume":"10","author":"K Patel","year":"2015","unstructured":"Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M, Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow BE (2015) A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family. PLoS ONE 10:e0133082. https:\/\/doi.org\/10.1371\/journal.pone.0133082","journal-title":"PLoS ONE"},{"key":"2448_CR156","doi-asserted-by":"publisher","first-page":"6421","DOI":"10.1167\/iovs.10-6557","volume":"52","author":"YW Peng","year":"2011","unstructured":"Peng YW, Zallocchi M, Wang WM, Delimont D, Cosgrove D (2011) Moderate light-induced degeneration of rod photoreceptors with delayed transducin translocation in shaker1 mice. Invest Ophthalmol vis Sci 52:6421\u20136427. https:\/\/doi.org\/10.1167\/iovs.10-6557","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR157","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1083\/jcb.96.1.265","volume":"96","author":"KR Peters","year":"1983","unstructured":"Peters KR, Palade GE, Schneider BG, Papermaster DS (1983) Fine structure of a periciliary ridge complex of frog retinal rod cells revealed by ultrahigh resolution scanning electron microscopy. J Cell Biol 96:265\u2013276","journal-title":"J Cell Biol"},{"key":"2448_CR158","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/humu.24150","volume":"42","author":"VG Peter","year":"2021","unstructured":"Peter VG, Quinodoz M, Sadio S, Held S, Rodrigues M, Soares M, Sousa AB, Coutinho Santos L, Damme M, Rivolta C (2021) New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Hum Mutat 42:261\u2013271. https:\/\/doi.org\/10.1002\/humu.24150","journal-title":"Hum Mutat"},{"key":"2448_CR159","doi-asserted-by":"publisher","first-page":"703","DOI":"10.1038\/nn.2330","volume":"12","author":"C Petit","year":"2009","unstructured":"Petit C, Richardson G (2009) Linking deafness genes to hair-bundle development and function. Nat Neurosci 12:703\u2013710","journal-title":"Nat Neurosci"},{"key":"2448_CR160","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1016\/j.ophtha.2016.01.021","volume":"123","author":"LH Pierrache","year":"2016","unstructured":"Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC (2016) Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa. Ophthalmology 123:1151\u20131160. https:\/\/doi.org\/10.1016\/j.ophtha.2016.01.021","journal-title":"Ophthalmology"},{"key":"2448_CR161","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0028936","volume":"7","author":"EG Puffenberger","year":"2012","unstructured":"Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, Nair DT, Politi KA, Worcester KN, Setton RA, Dipiazza R, Sherman EA, Eastman JT, Francklyn C, Robey-Bond S, Rider NL, Gabriel S, Morton DH, Strauss KA (2012) Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE 7:e28936. https:\/\/doi.org\/10.1371\/journal.pone.0028936","journal-title":"PLoS ONE"},{"key":"2448_CR162","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.exer.2005.11.010","volume":"83","author":"J Reiners","year":"2006","unstructured":"Reiners J, Nagel-Wolfrum K, Jurgens K, Marker T, Wolfrum U (2006) Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res 83:97\u2013119. https:\/\/doi.org\/10.1016\/j.exer.2005.11.010","journal-title":"Exp Eye Res"},{"key":"2448_CR163","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1038\/ng.2426","volume":"44","author":"S Riazuddin","year":"2012","unstructured":"Riazuddin S, Belyantseva IA, Giese AP, Lee K, Indzhykulian AA, Nandamuri SP, Yousaf R, Sinha GP, Lee S, Terrell D, Hegde RS, Ali RA, Anwar S, Andrade-Elizondo PB, Sirmaci A, Parise LV, Basit S, Wali A, Ayub M, Ansar M, Ahmad W, Khan SN, Akram J, Tekin M, Riazuddin S, Cook T, Buschbeck EK, Frolenkov GI, Leal SM, Friedman TB, Ahmed ZM (2012) Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48. Nat Genet 44:1265\u20131271. https:\/\/doi.org\/10.1038\/ng.2426","journal-title":"Nat Genet"},{"key":"2448_CR164","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1016\/S0140-6736(17)31868-8","volume":"390","author":"S Russell","year":"2017","unstructured":"Russell S, Bennett J, Wellman JA, Chung DC, Yu ZF, Tillman A, Wittes J, Pappas J, Elci O, McCague S, Cross D, Marshall KA, Walshire J, Kehoe TL, Reichert H, Davis M, Raffini L, George LA, Hudson FP, Dingfield L, Zhu X, Haller JA, Sohn EH, Mahajan VB, Pfeifer W, Weckmann M, Johnson C, Gewaily D, Drack A, Stone E, Wachtel K, Simonelli F, Leroy BP, Wright JF, High KA, Maguire AM (2017) Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial. Lancet 390:849\u2013860. https:\/\/doi.org\/10.1016\/S0140-6736(17)31868-8","journal-title":"Lancet"},{"key":"2448_CR165","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aax2324","author":"JA Sahel","year":"2019","unstructured":"Sahel JA, Bennett J, Roska B (2019) Depicting brighter possibilities for treating blindness. Sci Transl Med. https:\/\/doi.org\/10.1126\/scitranslmed.aax2324","journal-title":"Sci Transl Med"},{"key":"2448_CR166","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1083\/jcb.201202012","volume":"199","author":"I Sahly","year":"2012","unstructured":"Sahly I, Dufour E, Schietroma C, Michel V, Bahloul A, Perfettini I, Pepermans E, Estivalet A, Carette D, Aghaie A, Ebermann I, Lelli A, Iribarne M, Hardelin JP, Weil D, Sahel JA, El-Amraoui A, Petit C (2012) Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J Cell Biol 199:381\u2013399. https:\/\/doi.org\/10.1083\/jcb.201202012","journal-title":"J Cell Biol"},{"key":"2448_CR167","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1007\/s004290050088","volume":"196","author":"I Sahly","year":"1997","unstructured":"Sahly I, El-Amraoui A, Abitbol M, Petit C, Dufier JL (1997) Expression of myosin VIIA during mouse embryogenesis. Anat Embryol (berl) 196:159\u2013170. https:\/\/doi.org\/10.1007\/s004290050088","journal-title":"Anat Embryol (berl)"},{"key":"2448_CR168","doi-asserted-by":"publisher","first-page":"1849","DOI":"10.1083\/jcb.201612030","volume":"216","author":"C Schietroma","year":"2017","unstructured":"Schietroma C, Parain K, Estivalet A, Aghaie A, Boutet de Monvel J, Picaud S, Sahel JA, Perron M, El-Amraoui A, Petit C (2017) Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment. J Cell Biol 216:1849\u20131864. https:\/\/doi.org\/10.1083\/jcb.201612030","journal-title":"J Cell Biol"},{"key":"2448_CR169","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1093\/hmg\/ddn395","volume":"18","author":"E Schneider","year":"2009","unstructured":"Schneider E, Marker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Ratzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T (2009) Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. Hum Mol Genet 18:655\u2013666. https:\/\/doi.org\/10.1093\/hmg\/ddn395","journal-title":"Hum Mol Genet"},{"key":"2448_CR170","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1038\/ejhg.2015.157","volume":"24","author":"CZ Seco","year":"2016","unstructured":"Seco CZ, Giese AP, Shafique S, Schraders M, Oonk AM, Grossheim M, Oostrik J, Strom T, Hegde R, van Wijk E, Frolenkov GI, Azam M, Yntema HG, Free RH, Riazuddin S, Verheij JB, Admiraal RJ, Qamar R, Ahmed ZM, Kremer H (2016) Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells. Eur J Hum Genet 24:542\u2013549. https:\/\/doi.org\/10.1038\/ejhg.2015.157","journal-title":"Eur J Hum Genet"},{"key":"2448_CR171","doi-asserted-by":"publisher","first-page":"2329","DOI":"10.1007\/s00018-006-6148-x","volume":"63","author":"G Sekerkova","year":"2006","unstructured":"Sekerkova G, Zheng L, Loomis PA, Mugnaini E, Bartles JR (2006) Espins and the actin cytoskeleton of hair cell stereocilia and sensory cell microvilli. Cell Mol Life Sci 63:2329\u20132341. https:\/\/doi.org\/10.1007\/s00018-006-6148-x","journal-title":"Cell Mol Life Sci"},{"key":"2448_CR172","doi-asserted-by":"publisher","first-page":"2060","DOI":"10.1523\/JNEUROSCI.4251-05.2006","volume":"26","author":"M Senften","year":"2006","unstructured":"Senften M, Schwander M, Kazmierczak P, Lillo C, Shin JB, Hasson T, Geleoc GS, Gillespie PG, Williams D, Holt JR, Muller U (2006) Physical and functional interaction between protocadherin 15 and myosin VIIa in mechanosensory hair cells. J Neurosci 26:2060\u20132071","journal-title":"J Neurosci"},{"key":"2448_CR173","doi-asserted-by":"publisher","first-page":"3906","DOI":"10.1038\/s41467-021-24056-1","volume":"12","author":"S Sethna","year":"2021","unstructured":"Sethna S, Scott PA, Giese APJ, Duncan T, Jian X, Riazuddin S, Randazzo PA, Redmond TM, Bernstein SL, Riazuddin S, Ahmed ZM (2021a) CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function. Nat Commun 12:3906. https:\/\/doi.org\/10.1038\/s41467-021-24056-1","journal-title":"Nat Commun"},{"key":"2448_CR174","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.67361","author":"S Sethna","year":"2021","unstructured":"Sethna S, Zein WM, Riaz S, Giese AP, Schultz JM, Duncan T, Hufnagel RB, Brewer CC, Griffith AJ, Redmond TM, Riazuddin S, Friedman TB, Ahmed ZM (2021b) Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. Elife. https:\/\/doi.org\/10.7554\/eLife.67361","journal-title":"Elife"},{"key":"2448_CR175","doi-asserted-by":"publisher","first-page":"2498","DOI":"10.1101\/gr.1239303","volume":"13","author":"P Shannon","year":"2003","unstructured":"Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D, Amin N, Schwikowski B, Ideker T (2003) Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 13:2498\u20132504. https:\/\/doi.org\/10.1101\/gr.1239303","journal-title":"Genome Res"},{"key":"2448_CR176","doi-asserted-by":"publisher","first-page":"14946","DOI":"10.1073\/pnas.232579599","volume":"99","author":"J Siemens","year":"2002","unstructured":"Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Muller U (2002) The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A 99:14946\u201314951","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2448_CR177","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.jare.2021.01.005","volume":"31","author":"A Souissi","year":"2021","unstructured":"Souissi A, Ben Said M, Ben Ayed I, Elloumi I, Bouzid A, Mosrati MA, Hasnaoui M, Belcadhi M, Idriss N, Kamoun H, Gharbi N, Gibriel AA, Tlili A, Masmoudi S (2021) Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. J Adv Res 31:13\u201324. https:\/\/doi.org\/10.1016\/j.jare.2021.01.005","journal-title":"J Adv Res"},{"key":"2448_CR178","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1186\/1750-1172-8-122","volume":"8","author":"HB Steele-Stallard","year":"2013","unstructured":"Steele-Stallard HB, Le Quesne SP, Lenassi E, Luxon LM, Claustres M, Roux AF, Webster AR, Bitner-Glindzicz M (2013) Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis 8:122. https:\/\/doi.org\/10.1186\/1750-1172-8-122","journal-title":"Orphanet J Rare Dis"},{"key":"2448_CR179","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1080\/13816810.2020.1747088","volume":"41","author":"HA Stiff","year":"2020","unstructured":"Stiff HA, Sloan-Heggen CM, Ko A, Pfeifer WL, Kolbe DL, Nishimura CJ, Frees KL, Booth KT, Wang D, Weaver AE, Azaiez H, Kamholz J, Smith RJH, Drack AV (2020) Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss. Ophthalmic Genet 41:151\u2013158. https:\/\/doi.org\/10.1080\/13816810.2020.1747088","journal-title":"Ophthalmic Genet"},{"key":"2448_CR180","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1167\/iovs.17-23312","volume":"59","author":"T Sun","year":"2018","unstructured":"Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y (2018) Comprehensive molecular screening in Chinese usher syndrome patients. Invest Ophthalmol vis Sci 59:1229\u20131237. https:\/\/doi.org\/10.1167\/iovs.17-23312","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR181","doi-asserted-by":"publisher","first-page":"866","DOI":"10.1167\/iovs.15-16946","volume":"57","author":"G Tian","year":"2016","unstructured":"Tian G, Lee R, Ropelewski P, Imanishi Y (2016) Impairment of vision in a mouse model of Usher syndrome type III. Invest Ophthalmol vis Sci 57:866\u2013875. https:\/\/doi.org\/10.1167\/iovs.15-16946","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR182","doi-asserted-by":"publisher","first-page":"28755","DOI":"10.1038\/srep28755","volume":"6","author":"A Tiwari","year":"2016","unstructured":"Tiwari A, Bahr A, Bahr L, Fleischhauer J, Zinkernagel MS, Winkler N, Barthelmes D, Berger L, Gerth-Kahlert C, Neidhardt J, Berger W (2016) Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Sci Rep 6:28755. https:\/\/doi.org\/10.1038\/srep28755","journal-title":"Sci Rep"},{"key":"2448_CR183","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa004","author":"M Toms","year":"2020","unstructured":"Toms M, Dubis AM, de Vrieze E, Tracey-White D, Mitsios A, Hayes M, Broekman S, Baxendale S, Utoomprurkporn N, Bamiou D, Bitner-Glindzicz M, Webster AR, Van Wijk E, Moosajee M (2020a) Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Hum Mol Genet. https:\/\/doi.org\/10.1093\/hmg\/ddaa004","journal-title":"Hum Mol Genet"},{"key":"2448_CR184","doi-asserted-by":"publisher","first-page":"251584142095219","DOI":"10.1177\/2515841420952194","volume":"12","author":"M Toms","year":"2020","unstructured":"Toms M, Pagarkar W, Moosajee M (2020b) Usher syndrome: clinical features, molecular genetics and advancing therapeutics. Ther Adv Ophthalmol 12:2515841420952194. https:\/\/doi.org\/10.1177\/2515841420952194","journal-title":"Ther Adv Ophthalmol"},{"key":"2448_CR185","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108330","volume":"201","author":"L Toualbi","year":"2020","unstructured":"Toualbi L, Toms M, Moosajee M (2020) USH2A-retinopathy: from genetics to therapeutics. Exp Eye Res 201:108330. https:\/\/doi.org\/10.1016\/j.exer.2020.108330","journal-title":"Exp Eye Res"},{"key":"2448_CR186","doi-asserted-by":"publisher","first-page":"1968","DOI":"10.1038\/s41598-018-20171-0","volume":"8","author":"A DE Trouillet","year":"2018","unstructured":"DE Trouillet A, D\u00e9gardin J, Estivalet A, Ivkovic I, Godefroy D, Garc\u00eda-Ayuso D, Simonutti M, Sahly I, Sahel JA, El-Amraoui A, Petit C, Picaud S (2018) Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments. Sci Rep 8:1968. https:\/\/doi.org\/10.1038\/s41598-018-20171-0","journal-title":"Sci Rep"},{"key":"2448_CR187","first-page":"241","volume":"1","author":"RJ Ulshafer","year":"1987","unstructured":"Ulshafer RJ, Spoerri PE, Allen CB, Kelley KC (1987) Scanning electron microscopic observations on differentiation and maintenance of photoreceptor cells in vitro. Scanning Microsc 1:241\u2013246","journal-title":"Scanning Microsc"},{"key":"2448_CR188","doi-asserted-by":"publisher","first-page":"151","DOI":"10.3109\/13816819509057856","volume":"16","author":"A Van Aarem","year":"1995","unstructured":"Van Aarem A, Wagenaar M, Pinckers AJ, Huygen PL, Bleeker-Wagemakers EM, Kimberling BJ, Cremers CW (1995) Ophthalmologic findings in Usher syndrome type 2A. Ophthalmic Genet 16:151\u2013158. https:\/\/doi.org\/10.3109\/13816819509057856","journal-title":"Ophthalmic Genet"},{"key":"2448_CR189","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1086\/383096","volume":"74","author":"E van Wijk","year":"2004","unstructured":"van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H (2004) Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet 74:738\u2013744","journal-title":"Am J Hum Genet"},{"key":"2448_CR190","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.24661","author":"AC Velez-Ortega","year":"2017","unstructured":"Velez-Ortega AC, Freeman MJ, Indzhykulian AA, Grossheim JM, Frolenkov GI (2017) Mechanotransduction current is essential for stability of the transducing stereocilia in mammalian auditory hair cells. Elife. https:\/\/doi.org\/10.7554\/eLife.24661","journal-title":"Elife"},{"key":"2448_CR191","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-022-02441-0","author":"HM Velde","year":"2022","unstructured":"Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE (2022) Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants. Hum Genet. https:\/\/doi.org\/10.1007\/s00439-022-02441-0","journal-title":"Hum Genet"},{"key":"2448_CR192","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1038\/79171","volume":"26","author":"E Verpy","year":"2000","unstructured":"Verpy E, Leibovici M, Zwaenepoel I, Liu X-Z, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJB, Slim R, Petit C (2000) A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Nature Genet 26:51\u201355","journal-title":"Nature Genet"},{"key":"2448_CR193","doi-asserted-by":"publisher","DOI":"10.1038\/s42003-021-02998-y","author":"ABL Verschueren","year":"2021","unstructured":"Verschueren ABL, Ferrari U, Fouquet S, Nouvel-Jaillard C, Paques M, Picaud S, Sahel JA (2021) Planar polarity in primate cone photoreceptors: a potential role in Stiles Crawford effect phototropism. Commun Biol. https:\/\/doi.org\/10.1038\/s42003-021-02998-y","journal-title":"Commun Biol"},{"key":"2448_CR194","doi-asserted-by":"publisher","first-page":"e238","DOI":"10.1097\/AUD.0000000000000278","volume":"37","author":"B Vona","year":"2016","unstructured":"Vona B, Lechno S, Hofrichter MA, Hopf S, Laig AK, Haaf T, Keilmann A, Zechner U, Bartsch O (2016) Confirmation of PDZD7 as a nonsyndromic hearing loss gene. Ear Hear 37:e238\u2013e246. https:\/\/doi.org\/10.1097\/AUD.0000000000000278","journal-title":"Ear Hear"},{"key":"2448_CR195","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1093\/hmg\/ddr503","volume":"21","author":"L Wang","year":"2012","unstructured":"Wang L, Zou J, Shen Z, Song E, Yang J (2012) Whirlin interacts with espin and modulates its actin-regulatory function: an insight into the mechanism of Usher syndrome type II. Hum Mol Genet 21:692\u2013710. https:\/\/doi.org\/10.1093\/hmg\/ddr503","journal-title":"Hum Mol Genet"},{"key":"2448_CR196","doi-asserted-by":"publisher","first-page":"401","DOI":"10.3389\/fnmol.2017.00401","volume":"10","author":"Y Wang","year":"2017","unstructured":"Wang Y, Li J, Yao X, Li W, Du H, Tang M, Xiong W, Chai R, Xu Z (2017) Loss of CIB2 causes profound hearing loss and abolishes mechanoelectrical transduction in mice. Front Mol Neurosci 10:401. https:\/\/doi.org\/10.3389\/fnmol.2017.00401","journal-title":"Front Mol Neurosci"},{"key":"2448_CR197","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1093\/oxfordjournals.jmicro.a023767","volume":"48","author":"N Watanabe","year":"1999","unstructured":"Watanabe N, Miyake Y, Wakabayashi T, Usukura J (1999) Periciliary structure of developing rat photoreceptor cells. A deep etch replica and freeze substitution study. J Electron Microsc (tokyo) 48:929\u2013935","journal-title":"J Electron Microsc (tokyo)"},{"key":"2448_CR198","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1038\/374060a0","volume":"374","author":"D Weil","year":"1995","unstructured":"Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, Kelley PM, Kimberling WJ, Wagenaar M, Levi-Acobas F, Larget-Piet D, Munnich A, Steel KP, Brown SDM, Petit C (1995) Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature 374:60\u201361","journal-title":"Nature"},{"key":"2448_CR199","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1093\/hmg\/ddg051","volume":"12","author":"D Weil","year":"2003","unstructured":"Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lain\u00e9 S, Delmaghani S, Adato A, Nadifi S, BenZina Z, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C (2003) Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet 12:463\u2013471","journal-title":"Hum Mol Genet"},{"key":"2448_CR200","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1038\/ng0697-191","volume":"16","author":"D Weil","year":"1997","unstructured":"Weil D, Kussel P, Blanchard S, Levy G, Levi-Acobas F, Drira M, Ayadi H, Petit C (1997) The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nat Genet 16:191\u2013193. https:\/\/doi.org\/10.1038\/ng0697-191","journal-title":"Nat Genet"},{"key":"2448_CR201","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1086\/302855","volume":"66","author":"MD Weston","year":"2000","unstructured":"Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ (2000) Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet 66:1199\u20131210","journal-title":"Am J Hum Genet"},{"key":"2448_CR202","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1086\/381685","volume":"74","author":"MD Weston","year":"2004","unstructured":"Weston MD, Luijendijk MW, Humphrey KD, Moller C, Kimberling WJ (2004) Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. Am J Hum Genet 74:357\u2013366","journal-title":"Am J Hum Genet"},{"key":"2448_CR203","doi-asserted-by":"publisher","first-page":"455","DOI":"10.1016\/S0042-6989(01)00228-0","volume":"42","author":"DS Williams","year":"2002","unstructured":"Williams DS (2002) Transport to the photoreceptor outer segment by myosin VIIa and kinesin II. Vision Res 42:455\u2013462","journal-title":"Vision Res"},{"key":"2448_CR204","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/gt.2016.81","volume":"24","author":"DS Williams","year":"2017","unstructured":"Williams DS, Chadha A, Hazim R, Gibbs D (2017) Gene therapy approaches for prevention of retinal degeneration in Usher syndrome. Gene Ther 24:68\u201371. https:\/\/doi.org\/10.1038\/gt.2016.81","journal-title":"Gene Ther"},{"key":"2448_CR205","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1111\/j.1365-2443.2007.01046.x","volume":"12","author":"H Yagi","year":"2007","unstructured":"Yagi H, Tokano H, Maeda M, Takabayashi T, Nagano T, Kiyama H, Fujieda S, Kitamura K, Sato M (2007) Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. Genes Cells 12:235\u2013250","journal-title":"Genes Cells"},{"key":"2448_CR206","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000955","volume":"6","author":"J Yang","year":"2010","unstructured":"Yang J, Liu X, Zhao Y, Adamian M, Pawlyk B, Sun X, McMillan DR, Liberman MC, Li T (2010) Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet 6:e1000955. https:\/\/doi.org\/10.1371\/journal.pgen.1000955","journal-title":"PLoS Genet"},{"issue":"Suppl 1","key":"2448_CR207","doi-asserted-by":"publisher","first-page":"77S","DOI":"10.1177\/0003489415574513","volume":"124","author":"H Yoshimura","year":"2015","unstructured":"Yoshimura H, Hashimoto T, Murata T, Fukushima K, Sugaya A, Nishio SY, Usami S (2015) Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. Ann Otol Rhinol Laryngol 124(Suppl 1):77S-83S. https:\/\/doi.org\/10.1177\/0003489415574513","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"2448_CR208","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1083\/jcb.33.1.61","volume":"33","author":"RW Young","year":"1967","unstructured":"Young RW (1967) The renewal of photoreceptor cell outer segments. J Cell Biol 33:61\u201372","journal-title":"J Cell Biol"},{"key":"2448_CR209","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1016\/0014-4835(74)90150-X","volume":"18","author":"RW Young","year":"1974","unstructured":"Young RW (1974) Proceedings: biogenesis and renewal of visual cell outer segment membranes. Exp Eye Res 18:215\u2013223","journal-title":"Exp Eye Res"},{"key":"2448_CR210","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1080\/13816810.2018.1479430","volume":"39","author":"N Zhang","year":"2018","unstructured":"Zhang N, Wang J, Liu S, Liu M, Jiang F (2018) Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. Ophthalmic Genet 39:517\u2013521. https:\/\/doi.org\/10.1080\/13816810.2018.1479430","journal-title":"Ophthalmic Genet"},{"key":"2448_CR211","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1016\/s0092-8674(00)00042-8","volume":"102","author":"L Zheng","year":"2000","unstructured":"Zheng L, Sekerkova G, Vranich K, Tilney LG, Mugnaini E, Bartles JR (2000) The deaf jerker mouse has a mutation in the gene encoding the espin actin-bundling proteins of hair cell stereocilia and lacks espins. Cell 102:377\u2013385. https:\/\/doi.org\/10.1016\/s0092-8674(00)00042-8","journal-title":"Cell"},{"key":"2448_CR212","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.ijporl.2016.09.010","volume":"90","author":"L Zong","year":"2016","unstructured":"Zong L, Chen K, Wu X, Liu M, Jiang H (2016) Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. Int J Pediatr Otorhinolaryngol 90:150\u2013155. https:\/\/doi.org\/10.1016\/j.ijporl.2016.09.010","journal-title":"Int J Pediatr Otorhinolaryngol"},{"key":"2448_CR213","doi-asserted-by":"publisher","first-page":"2343","DOI":"10.1167\/iovs.10-6141","volume":"52","author":"J Zou","year":"2011","unstructured":"Zou J, Luo L, Shen Z, Chiodo VA, Ambati BK, Hauswirth WW, Yang J (2011) Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest Ophthalmol vis Sci 52:2343\u20132351. https:\/\/doi.org\/10.1167\/iovs.10-6141","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2448_CR214","doi-asserted-by":"publisher","first-page":"2374","DOI":"10.1093\/hmg\/ddt629","volume":"23","author":"J Zou","year":"2014","unstructured":"Zou J, Zheng T, Ren C, Askew C, Liu XP, Pan B, Holt JR, Wang Y, Yang J (2014) Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet 23:2374\u20132390. https:\/\/doi.org\/10.1093\/hmg\/ddt629","journal-title":"Hum Mol Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02448-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-022-02448-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02448-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,23]],"date-time":"2022-04-23T03:10:14Z","timestamp":1650683414000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-022-02448-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,30]]},"references-count":214,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["2448"],"URL":"https:\/\/doi.org\/10.1007\/s00439-022-02448-7","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,30]]},"assertion":[{"value":"23 February 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 March 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 March 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no competing interest to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Not applicable.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Not applicable.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}