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275 results

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LADD syndrome with glaucoma is caused by a novel gene.
Simpson A, Avdic A, Roos BR, DeLuca A, Miller K, Schnieders MJ, Scheetz TE, Alward WL, Fingert JH. Simpson A, et al. Among authors: deluca a. Mol Vis. 2017 Mar 30;23:179-184. eCollection 2017. Mol Vis. 2017. PMID: 28400699 Free PMC article.
Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa.
Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. Tucker BA, et al. Among authors: deluca ap. Proc Natl Acad Sci U S A. 2011 Aug 23;108(34):E569-76. doi: 10.1073/pnas.1108918108. Epub 2011 Aug 8. Proc Natl Acad Sci U S A. 2011. PMID: 21825139 Free PMC article.
Using the phenome and genome to improve genetic diagnosis for deafness.
Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Eppsteiner RW, et al. Among authors: deluca ap. Otolaryngol Head Neck Surg. 2012 Nov;147(5):975-7. doi: 10.1177/0194599812454271. Epub 2012 Jul 11. Otolaryngol Head Neck Surg. 2012. PMID: 22785243 Free PMC article. No abstract available.
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ. Eppsteiner RW, et al. Among authors: deluca ap. Hear Res. 2012 Oct;292(1-2):51-8. doi: 10.1016/j.heares.2012.08.007. Epub 2012 Aug 28. Hear Res. 2012. PMID: 22975204 Free PMC article.
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. Taylor KR, et al. Among authors: deluca ap. Hum Mutat. 2013 Apr;34(4):539-45. doi: 10.1002/humu.22268. Epub 2013 Feb 19. Hum Mutat. 2013. PMID: 23280582 Free PMC article.
Exon-level expression profiling of ocular tissues.
Wagner AH, Anand VN, Wang WH, Chatterton JE, Sun D, Shepard AR, Jacobson N, Pang IH, Deluca AP, Casavant TL, Scheetz TE, Mullins RF, Braun TA, Clark AF. Wagner AH, et al. Among authors: deluca ap. Exp Eye Res. 2013 Jun;111:105-11. doi: 10.1016/j.exer.2013.03.004. Epub 2013 Mar 14. Exp Eye Res. 2013. PMID: 23500522 Free PMC article.
Prioritization of retinal disease genes: an integrative approach.
Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA. Wagner AH, et al. Among authors: deluca ap. Hum Mutat. 2013 Jun;34(6):853-9. doi: 10.1002/humu.22317. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23508994 Free PMC article.
Advancing genetic testing for deafness with genomic technology.
Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ. Shearer AE, et al. Among authors: deluca ap. J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26. J Med Genet. 2013. PMID: 23804846 Free PMC article.
Congenital myopathy is caused by mutation of HACD1.
Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Muhammad E, et al. Among authors: deluca a. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. Hum Mol Genet. 2013. PMID: 23933735 Free PMC article.
275 results