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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: slusarski dc. 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.
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Heon E, et al. Among authors: slusarski dc. Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27008867 Free PMC article.
Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa.
Tucker BA, Burnight ER, Cranston CM, Ulferts MJ, Luse MA, Westfall T, Scott CA, Marsden A, Gibson-Corley K, Wiley LA, Han IC, Slusarski DC, Mullins RF, Stone EM. Tucker BA, et al. Among authors: slusarski dc. Gene Ther. 2022 May;29(5):259-288. doi: 10.1038/s41434-021-00291-5. Epub 2021 Sep 14. Gene Ther. 2022. PMID: 34518651 Free PMC article.
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC. Nishimura DY, et al. Among authors: slusarski dc. Am J Hum Genet. 2010 May 14;86(5):686-95. doi: 10.1016/j.ajhg.2010.03.005. Epub 2010 Apr 15. Am J Hum Genet. 2010. PMID: 20398886 Free PMC article.
58 results