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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.
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.
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Braun TA, et al. Among authors: deluca ap. Hum Mol Genet. 2013 Dec 20;22(25):5136-45. doi: 10.1093/hmg/ddt367. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918662 Free PMC article.
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, Stone EM, Slusarski DC. DeLuca AP, et al. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ddv446. Epub 2015 Oct 22. Hum Mol Genet. 2016. PMID: 26494905 Free PMC article.
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, Scheetz TE, Fingert JH, Mullins RF, Tucker BA, Stone EM. Small KW, et al. Among authors: deluca ap. Ophthalmology. 2016 Jan;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006. Epub 2015 Oct 24. Ophthalmology. 2016. PMID: 26507665 Free PMC article.
SQSTM1 Mutations and Glaucoma.
Scheetz TE, Roos BR, Solivan-Timpe F, Miller K, DeLuca AP, Stone EM, Kwon YH, Alward WL, Wang K, Fingert JH. Scheetz TE, et al. Among authors: deluca ap. PLoS One. 2016 Jun 8;11(6):e0156001. doi: 10.1371/journal.pone.0156001. eCollection 2016. PLoS One. 2016. PMID: 27275741 Free PMC article.
Primary congenital and developmental glaucomas.
Lewis CJ, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH. Lewis CJ, et al. Among authors: deluca ap. Hum Mol Genet. 2017 Aug 1;26(R1):R28-R36. doi: 10.1093/hmg/ddx205. Hum Mol Genet. 2017. PMID: 28549150 Free PMC article. Review.
43 results