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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7.
Am J Hum Genet. 2020.
PMID: 32386558
Free PMC article.
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.
Sullivan LS, Koboldt DC, Bowne SJ, Lang S, Blanton SH, Cadena E, Avery CE, Lewis RA, Webb-Jones K, Wheaton DH, Birch DG, Coussa R, Ren H, Lopez I, Chakarova C, Koenekoop RK, Garcia CA, Fulton RS, Wilson RK, Weinstock GM, Daiger SP.
Sullivan LS, et al.
Invest Ophthalmol Vis Sci. 2014 Sep 4;55(11):7147-58. doi: 10.1167/iovs.14-15419.
Invest Ophthalmol Vis Sci. 2014.
PMID: 25190649
Free PMC article.
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A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP.
Sullivan LS, et al. Among authors: cadena el.
Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2774-2784. doi: 10.1167/iovs.16-21341.
Invest Ophthalmol Vis Sci. 2017.
PMID: 28549094
Free PMC article.
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History of Finding Genes and Mutations Causing Inherited Retinal Diseases.
Daiger SP, Sullivan LS, Cadena EL, Bowne SJ.
Daiger SP, et al. Among authors: cadena el.
Cold Spring Harb Perspect Med. 2023 Oct 3:a041287. doi: 10.1101/cshperspect.a041287. Online ahead of print.
Cold Spring Harb Perspect Med. 2023.
PMID: 37788881
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