| General References
| - Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
- Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R, Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N, Lander ES: DNA sequence and analysis of human chromosome 8. Nature. 2006 Jan 19;439(7074):331-5. [PubMed:16421571 ]
- Cook PJ, Ju BG, Telese F, Wang X, Glass CK, Rosenfeld MG: Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature. 2009 Apr 2;458(7238):591-6. doi: 10.1038/nature07849. Epub 2009 Feb 22. [PubMed:19234442 ]
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, Konig R, Vigneron J, Weissenbach J, Petit C, Weil D: Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet. 1997 Dec;6(13):2247-55. [PubMed:9361030 ]
- Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C: A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family. Nat Genet. 1997 Feb;15(2):157-64. [PubMed:9020840 ]
- Fougerousse F, Durand M, Lopez S, Suel L, Demignon J, Thornton C, Ozaki H, Kawakami K, Barbet P, Beckmann JS, Maire P: Six and Eya expression during human somitogenesis and MyoD gene family activation. J Muscle Res Cell Motil. 2002;23(3):255-64. [PubMed:12500905 ]
- Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C: BOR and BO syndromes are allelic defects of EYA1. Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6. [PubMed:9359046 ]
- Kumar S, Deffenbacher K, Cremers CW, Van Camp G, Kimberling WJ: Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. Genet Test. 1997-1998;1(4):243-51. [PubMed:10464653 ]
- Azuma N, Hirakiyama A, Inoue T, Asaka A, Yamada M: Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. Hum Mol Genet. 2000 Feb 12;9(3):363-6. [PubMed:10655545 ]
- Rickard S, Boxer M, Trompeter R, Bitner-Glindzicz M: Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. J Med Genet. 2000 Aug;37(8):623-7. [PubMed:10991693 ]
- Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M: Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet. 2001 May;108(5):398-403. [PubMed:11409867 ]
- Namba A, Abe S, Shinkawa H, Kimberling WJ, Usami SI: Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis. J Hum Genet. 2001;46(9):518-21. [PubMed:11558900 ]
- Yashima T, Noguchi Y, Ishikawa K, Mizusawa H, Kitamura K: Mutation of the EYA1 gene in patients with branchio-oto syndrome. Acta Otolaryngol. 2003 Jan;123(2):279-82. [PubMed:12701758 ]
- Estefania E, Ramirez-Camacho R, Gomar M, Trinidad A, Arellano B, Garcia-Berrocal JR, Verdaguer JM, Vilches C: Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Ann Hum Genet. 2006 Jan;70(Pt 1):140-4. [PubMed:16441263 ]
- Spruijt L, Hoefsloot LH, van Schaijk GH, van Waardenburg D, Kremer B, Brackel HJ, de Die-Smulders CE: Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. Am J Med Genet A. 2006 Jun 15;140(12):1343-5. [PubMed:16691597 ]
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