Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249
CAS
PubMed
PubMed Central
Article
Google Scholar
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 55:479–488
CAS
PubMed
Article
Google Scholar
Alcazar-Fabra M, Trevisson E, Brea-Calvo G (2018) Clinical syndromes associated with coenzyme Q10 deficiency. Essays Biochem 62:377–398
PubMed
Article
Google Scholar
Amirian A, Zafari Z, Dalili M, Saber S, Karimipoor M, Dabbagh Bagheri S, Fazelifar AF, Zeinali S (2018) Detection of a new KCNQ1 frameshift mutation associated with Jervell and Lange-Nielsen syndrome in 2 Iranian families. J Arrhythm 34:286–290
PubMed
PubMed Central
Article
Google Scholar
Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T (2008) Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. Genet Test 12:289–294
CAS
PubMed
Article
Google Scholar
Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH (2018) Genomic landscape and mutational signatures of deafness-associated genes. Am J Hum Genet 103:484–497
CAS
PubMed
PubMed Central
Article
Google Scholar
Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, Atik T, Kirazli T, Olgun L, Alper H, Menendez I, Loclar I, Sennaroglu G, Tokgoz-Yilmaz S, Guo S, Olgun Y, Mahdieh N, Bonyadi M, Bozan N, Ayral A, Ozkinay F, Yildirim-Baylan M, Blanton SH, Tekin M (2016) Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss. Sci Rep 6:31622
CAS
PubMed
PubMed Central
Article
Google Scholar
Balci TB, Hartley T, Xi Y, Dyment DA, Beaulieu CL, Bernier FP, Dupuis L, Horvath GA, Mendoza-Londono R, Prasad C, Richer J, Yang XR, Armour CM, Bareke E, Fernandez BA, McMillan HJ, Lamont RE, Majewski J, Parboosingh JS, Prasad AN, Rupar CA, Schwartzentruber J, Smith AC, Tétreault M, FORGE Canada Consortium, Care4Rare Canada Consortium, Innes AM, Boycott KM (2017) Debunking Occam’s razor: diagnosing multiple genetic diseases in families by whole-exome sequencing. Clin Genet 92:281–289
CAS
PubMed
Article
Google Scholar
Baux D, Blanchet C, Hamel C, Meunier I, Larrieu L, Faugère V, Vaché C, Castorina P, Puech B, Bonneau D, Malcolm S, Claustres M, Roux AF (2014) Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat 35:1179–1186
CAS
PubMed
Article
Google Scholar
Baux D, Vaché C, Blanchet C, Willems M, Baudoin C, Moclyn M, Faugère V, Touraine R, Isidor B, Dupin-Deguine D, Nizon M, Vincent M, Mercier S, Calais C, García-García G, Azher Z, Lambert L, Perdomo-Trujillo Y, Giuliano F, Claustres M, Koenig M, Mondain M, Roux AF (2017) Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients. Sci Rep 7:16783
CAS
PubMed
PubMed Central
Article
Google Scholar
Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG (2001) Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 109:503–511
CAS
PubMed
Article
Google Scholar
Beutler E, Westwood B, Prchal JT, Vaca G, Bartsocas CS, Baronciani L (1992) New glucose-6-phosphate dehydrogenase mutations from various ethnic groups. Blood 80:255–256
CAS
PubMed
Article
Google Scholar
Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP (2000) Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. Exp Eye Res 71:173–181
CAS
PubMed
Article
Google Scholar
Bonnet C, Grati M, Marlin S, Levilliers J, Hardelin JP, Parodi M, Niasme-Grare M, Zelenika D, Délépine 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
PubMed
PubMed Central
Article
Google Scholar
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller 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 24:1730–1738
CAS
PubMed
PubMed Central
Article
Google Scholar
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 93:812–821
CAS
PubMed
PubMed Central
Article
Google Scholar
Boskabadi H, Zakerihamidi M, Moradi A, Mehdi Bakhshaee M (2018) Risk factors for sensorineural hearing loss in neonatal hyperbilirubinemia. Iran J Otorhinolaryngol 30:195–202
PubMed
PubMed Central
Google Scholar
Bunge S, Wedemann H, David D, Terwilliger DJ, van den Born LI, Aulehla-Scholz C, Samanns C, Horn M, Ott J, Schwinger E, Schinzel A, Denton MJ, Gal A (1993) Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics 17:230–233
CAS
PubMed
Article
Google Scholar
Cehajic-Kapetanovic J, Xue K, Martinez-Fernandez de la Camara C, Nanda A, Davies A, Wood LJ, Salvetti AP, Fischer MD, Aylward JW, Barnard AR, Jolly JK, Luo E, Lujan BJ, Ong T, Girach A, Black GCM, Gregori NZ, Davis JL, Rosa PR, Lotery AJ, Lam BL, Stanga PE, MacLaren RE (2020) Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR. Nat Med 26:354–359
CAS
PubMed
PubMed Central
Article
Google Scholar
Chassaing N, Martin L, Mazereeuw J, Barrié L, Nizard S, Bonafé JL, Calvas P, Hovnanian A (2004) Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Dermatol 122:608–613
CAS
PubMed
Article
Google Scholar
Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H (2013) Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet 132:1077–1130
CAS
PubMed
PubMed Central
Article
Google Scholar
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, de Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H (2007) Development of a genotyping microarray for Usher syndrome. J Med Genet 44:153–160
CAS
PubMed
Article
Google Scholar
Dammeyer J (2014) Deafblindness: a review of the literature. Scand J Public Health 42:554–562
PubMed
Article
Google Scholar
Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M, Béroud C (2009) Human splicing finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67
PubMed
PubMed Central
Article
CAS
Google Scholar
Diñeiro M, Capín R, Cifuentes GÁ, Fernández-Vega B, Villota E, Otero A, Santiago A, Pruneda PC, Castillo D, Viejo-Díaz M, Hernando I, Durán NS, Álvarez R, Lago CG, Ordóñez GR, Fernández-Vega Á, Cabanillas R, Cadiñanos J (2020) Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options. Acta Ophthalmol 98:1034–1048
Article
Google Scholar
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS, ClinGen Hearing Loss Clinical Domain Working Group (2019) ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med 21:2239–2247
PubMed
PubMed Central
Article
Google Scholar
Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL, Alliance MGH, Amor D (2020) Exome sequencing in infants with congenital hearing impairment: a population-based cohort study. Eur J Hum Genet 28:587–596
CAS
PubMed
Article
Google Scholar
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS (2013) A systematic approach to assessing the clinical significance of genetic variants. Clin Genet 84:453–463
CAS
PubMed
PubMed Central
Article
Google Scholar
Ebermann I, Wiesen MH, Zrenner E, Lopez I, Pigeon R, Kohl S, Löwenheim H, Koenekoop RK, Bolz HJ (2009) GPR98 mutations cause Usher syndrome type 2 in males. J Med Genet 46:277–280
CAS
PubMed
Article
Google Scholar
Eudy JD, Weston MD, Yao S, Hoover DM, Rehm HL, Ma-Edmonds M, Yan D, Ahmad I, Cheng JJ, Ayuso C, Cremers C, Davenport S, Moller C, Talmadge CB, Beisel KW, Tamayo M, Morton CC, Swaroop A, Kimberling WJ, Sumegi J (1998) Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. Science 280:1753–1757
CAS
PubMed
Article
Google Scholar
Gao FJ, Wang DD, Cheng F, Sun HX, Hu FY, Xu P, Li J, Liu W, Qi YH, Li W, Wang M, Zhang S, Xu GZ, Chang Q, Wu JH (2021) Prevalence and genetic–phenotypic characteristics of patients with USH2A mutations in a large cohort of Chinese patients with inherited retinal disease. Br J Ophthalmol 105:87–92
PubMed
Article
Google Scholar
Géléoc GGS, El-Amraoui A (2020) Disease mechanisms and gene therapy for Usher syndrome. Hear Res 394:107932
PubMed
Article
Google Scholar
Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, Biswas S, Bowling KM, Brothers KB, Conlin LK, Cooper GM, Dulik MC, East KM, Everett JN, Finnila CR, Ghazani AA, Gilmore MJ, Goddard KAB, Jarvik GP, Johnston JJ, Kauffman TL, Kelley WV, Krier JB, Lewis KL, McGuire AL, McMullen C, Ou J, Plon SE, Rehm HL, Richards CS, Romasko EJ, Miren Sagardia A, Spinner NB, Thompson ML, Turbitt E, Vassy JL, Wilfond BS, Veenstra DL, Berg JS, Green RC, Biesecker LG, Hindorff LA (2019) Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. Genet Med 21:1100–1110
PubMed
Article
Google Scholar
Hombach D, Schuelke M, Knierim E, Ehmke N, Schwarz JM, Fischer-Zirnsak B, Seelow D (2019) MutationDistiller: user-driven identification of pathogenic DNA variants. Nucleic Acids Res 47:W114–W120
CAS
PubMed
PubMed Central
Article
Google Scholar
Jaijo T, Aller E, Oltra S, Beneyto M, Nájera C, Ayuso C, Baiget M, Carballo M, Antiñolo G, Valverde D, Moreno F, Vilela C, Perez-Garrigues H, Navea A, Millán JM (2006) Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat 27:290–291
CAS
PubMed
Article
Google Scholar
Jiang L, Liang X, Li Y, Wang J, Zaneveld JE, Wang H, Xu S, Wang K, Wang B, Chen R, Sui R (2015) Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. Orphanet J Rare Dis 10:110
PubMed
PubMed Central
Article
Google Scholar
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 40:121–129
PubMed
Article
Google Scholar
Kajiwara K, Berson EL, Dryja TP (1994) Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 264:1604–1608
CAS
PubMed
Article
Google Scholar
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT (2017) Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 19:249–255
PubMed
Article
Google Scholar
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O’Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Genome Aggregation Database Consortium, Neale BM, Daly MJ, MacArthur DG (2020) The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581:434–443
CAS
PubMed
PubMed Central
Article
Google Scholar
Khalaileh A, Abu-Diab A, Ben-Yosef T, Raas-Rothschild A, Lerer I, Alswaiti Y, Chowers I, Banin E, Sharon D, Khateb S (2018) The genetics of Usher syndrome in the Israeli and Palestinian populations. Invest Ophthalmol vis Sci 59:1095–1104
CAS
PubMed
Article
Google Scholar
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 12:512–516
CAS
PubMed
PubMed Central
Article
Google Scholar
Kooshavar D, Razipour M, Movasat M, Keramatipour M (2018) Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. Int J Pediatr Otorhinolaryngol 104:10–13
PubMed
Article
Google Scholar
Le Quesne SP, Saihan Z, Rangesh N, Steele-Stallard HB, Ambrose J, Coffey A, Emmerson J, Haralambous E, Hughes Y, Steel KP, Luxon LM, Webster AR, Bitner-Glindzicz M (2012) Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet 49:27–36
Article
CAS
Google Scholar
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, Géléoc GSG (2020) Direct delivery of antisense oligonucleotides to the middle and inner ear improves hearing and balance in Usher mice. Mol Ther 28:2662–2676
CAS
PubMed
PubMed Central
Article
Google Scholar
Lewis TR, Shores CR, Cady MA, Hao Y, Arshavsky VY, Burns ME (2020) The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice. Sci Rep 10:7538
CAS
PubMed
PubMed Central
Article
Google Scholar
Liquori A, Vaché C, Baux D, Blanchet C, Hamel C, Malcolm S, Koenig M, Claustres M, Roux AF (2016) Whole USH2A gene sequencing identifies several new deep intronic mutations. Hum Mutat 37:184–193
CAS
PubMed
Article
Google Scholar
Liu L, Li H, Shi L (2017) Alström syndrome with novel ALMS mutations: a case report. Exp Clin Endocrinol Diabetes Rep 5:e10-13
Google Scholar
Mallory DP, Gutierrez E, Pinkevitch M, Klinginsmith C, Comar WD, Roushar FJ, Schlebach JP, Smith AW, Jastrzebska B (2018) The retinitis pigmentosa-linked mutations in transmembrane helix 5 of rhodopsin disrupt cellular trafficking regardless of oligomerization state. Biochemistry 57:5188–5201
CAS
PubMed
Article
Google Scholar
Mazzoli M, van Camp G, Newton V, Giarbini N, Declau F, Parving A (2003) Recommendations for the description of genetic and audiological data for families with nonsyndromic hereditary hearing impairment. Audiol Med 1:148–150
Article
Google Scholar
Myers KA, Nasioulas S, Boys A, McMahon JM, Slater H, Lockhart P, Sart DD, Scheffer IE (2018) ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 59:381–388
CAS
PubMed
Article
Google Scholar
Nadeau JH (2001) Modifier genes in humans and mice. Nat Rev Genet 2:165–174
CAS
PubMed
Article
Google Scholar
Nagel-Wolfrum K, Baasov T, Wolfrum U (2014) Therapy strategies for Usher syndrome type 1C in the retina. Adv Exp Med Biol 801:741–747
PubMed
Article
Google Scholar
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 99:777–784
CAS
PubMed
PubMed Central
Article
Google Scholar
Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr 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 5:531–552
CAS
PubMed
PubMed Central
Article
Google Scholar
Ng PC, Henikoff S (2001) Predicting deleterious amino acid substitutions. Genome Res 11:863–874
CAS
PubMed
PubMed Central
Article
Google Scholar
Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N (2014) Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. Invest Ophthalmol vis Sci 55:7369–7735
CAS
PubMed
Article
Google Scholar
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN, ClinGen Hearing Loss Clinical Domain Working Group (2018) Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat 39:1593–1613
PubMed
PubMed Central
Article
Google Scholar
Pertea M, Lin X, Salzberg SL (2001) GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res 29:1185–1190
CAS
PubMed
PubMed Central
Article
Google Scholar
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 42:261–271
CAS
PubMed
Article
Google Scholar
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. Opthalmology 123:1151–1160
Article
Google Scholar
Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, Coban Akdemir ZH, Walkiewicz M, Bi W, Xiao R, Ding Y, Xia F, Beaudet AL, Muzny DM, Gibbs RA, Boerwinkle E, Eng CM, Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR (2017) Resolution of disease phenotypes resulting from multilocus genomic variation. N Engl J Med 376:21–31
CAS
PubMed
Article
Google Scholar
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
CAS
PubMed
PubMed Central
Article
Google Scholar
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A (2014) Rare and common variants in extracellular matrix gene fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet 23:5827–5837
CAS
PubMed
PubMed Central
Article
Google Scholar
Reese MG, Eeckman FH, Kulp D, Haussler D (1997) Improved splice site detection in Genie. J Comput Biol 4:311–323
CAS
PubMed
Article
Google Scholar
Rethanavelu K, Fung JLF, Chau JFT, Pei SLC, Chung CCY, Mak CCY, Luk HM, Chung BHY (2020) Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome. Am J Med Genet A 182:279–288
CAS
PubMed
Article
Google Scholar
Riazuddin S, Nazli S, Ahmed ZM, Yang Y, Zulfiqar F, Shaikh RS, Zafar AU, Khan SN, Sabar F, Javid FT, Wilcox ER, Tsilou E, Boger ET, Sellers JR, Belyantseva IA, Riazuddin S, Friedman TB (2008) Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Hum Mutat 29:502–511
CAS
PubMed
Article
Google Scholar
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 44:1265–1271
CAS
PubMed
PubMed Central
Article
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424
PubMed
PubMed Central
Article
Google Scholar
Rio Frio T, McGee TL, Wade NM, Iseli C, Beckmann JS, Berson EL, Rivolta C (2009) A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Hum Mutat 30:1340–1347
PubMed
PubMed Central
Article
CAS
Google Scholar
Rivolta C, McGee TL, Rio Frio T, Jensen RV, Berson EL, Dryja TP (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat 27:644–653
CAS
PubMed
Article
Google Scholar
Rose AM, Shah AZ, Venturini G, Krishna A, Chakravarti A, Rivolta C, Bhattacharya SS (2016) Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa. Sci Rep 6:19450
CAS
PubMed
PubMed Central
Article
Google Scholar
Roux AF, Faugère V, Le Guédard S, Pallares-Ruiz N, Vielle A, Chambert S, Marlin S, Hamel C, Gilbert B, Malcolm S, Claustres M, Collaboration FUS (2006) Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. J Med Genet 43:763–768
CAS
PubMed
PubMed Central
Article
Google Scholar
Sabbaghi H, Daftarian N, Suri F, Mirrahimi M, Madani S, Sheikhtaheri A, Khorrami F, Saviz P, Zarei Nejad M, Tivay A, Shahriari HA, Maleki A, Ahmadi SS, Sargazi M, Cremers FPM, Najafi M, Vona B, Haaf T, Bahena-Carbajal P, Moghadasi A, Naraghi H, Yaseri M, Kheiri B, Kalantarion M, Sabbaghi E, Salami M, Pazooki L, Zendedel K, Mojarrab S, Ahmadieh H (2020) The first inherited retinal disease registry in Iran: research protocol and results of a pilot study. Arch Iran Med 23:445–454
PubMed
Article
Google Scholar
Schwarz JM, Cooper DN, Schuelke M, Seelow D (2014) MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods 11:361–362
CAS
PubMed
Article
Google Scholar
Scott EM, Halees A, Itan Y, Spencer EG, He Y, Azab MA, Gabriel SB, Belkadi A, Boisson B, Abel L, Clark AG, Greater Middle East Variome Consortium, Alkuraya FS, Casanova JL, Gleeson JG (2016) Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. Nat Genet 48:1071–1076
CAS
PubMed
PubMed Central
Article
Google Scholar
Shapiro MB, Senapathy P (1987) RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155–7174
CAS
PubMed
PubMed Central
Article
Google Scholar
Simonelli F, Testa F, de Crecchio G, Rinaldi E, Hutchinson A, Atkinson A, Dean M, D’Urso M, Allikmets R (2000) New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol vis Sci 41:892–897
CAS
PubMed
Google Scholar
Sliesoraityte I, Peto T, Mohand-Said S, Sahel JA (2015) Novel grading system for quantification of cystic macular lesions in Usher syndrome. Orphanet J Rare Dis 10:157
PubMed
PubMed Central
Article
Google Scholar
Sloan-Heggen CM, Babanejad M, Beheshtian M, Simpson AC, Booth KT, Ardalani F, Frees KL, Mohseni M, Mozafari R, Mehrjoo Z, Jamali L, Vaziri S, Akhtarkhavari T, Bazazzadegan N, Nikzat N, Arzhangi S, Sabbagh F, Otukesh H, Seifati SM, Khodaei H, Taghdiri M, Meyer NC, Daneshi A, Farhadi M, Kahrizi K, Smith RJ, Azaiez H, Najmabadi H (2015) Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. J Med Genet 52:823–829
CAS
PubMed
Article
Google Scholar
Sloan-Heggen CM, Bierer AO, Shearer AE, Kolbe DL, Nishimura CJ, Frees KL, Ephraim SS, Shibata SB, Booth KT, Campbell CA, Ranum PT, Weaver AE, Black-Ziegelbein EA, Wang D, Azaiez H, Smith RJH (2016) Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet 135:441–450
CAS
PubMed
PubMed Central
Article
Google Scholar
Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R (2017) Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance. Hum Mutat 38:1521–1533
CAS
PubMed
PubMed Central
Article
Google Scholar
Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN (2014) The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133:1–9
CAS
PubMed
Article
Google Scholar
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 41:151–158
PubMed
PubMed Central
Article
Google Scholar
Tasliyurt T, Yigit S, Rustemoglu A, Gul U, Ates O (2013) Common MEFV gene mutations in Turkish patients with Behcet’s disease. Gene 530:100–103
CAS
PubMed
Article
Google Scholar
Tompson SW, Young TL (2017) Assaying the effects of splice site variants by exon trapping in a mammalian cell line. Bio Protoc 7:e2281
PubMed
PubMed Central
Article
Google Scholar
Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF (2012) Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat 33:104–108
PubMed
Article
CAS
Google Scholar
Watanabe S, Umeki N, Ikebe R, Ikebe M (2008) Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function. Biochemistry 47:9505–9513
CAS
PubMed
Article
Google Scholar
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA (2014) Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 312:1870–1879
CAS
PubMed
PubMed Central
Article
Google Scholar
Yeo G, Burge CB (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11:377–394
CAS
PubMed
Article
Google Scholar