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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. Among authors: whitmore ss. 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: whitmore ss. 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.
A Mutation in LTBP2 Causes Congenital Glaucoma in Domestic Cats (Felis catus).
Kuehn MH, Lipsett KA, Menotti-Raymond M, Whitmore SS, Scheetz TE, David VA, O'Brien SJ, Zhao Z, Jens JK, Snella EM, Ellinwood NM, McLellan GJ. Kuehn MH, et al. Among authors: whitmore ss. PLoS One. 2016 May 5;11(5):e0154412. doi: 10.1371/journal.pone.0154412. eCollection 2016. PLoS One. 2016. PMID: 27149523 Free PMC article.
34 results