Wheaton DK - Search Results

1

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.

Bowne SJ, Sullivan LS, Wheaton DK, Locke KG, Jones KD, Koboldt DC, Fulton RS, Wilson RK, Blanton SH, Birch DG, Daiger SP. Bowne SJ, et al. Among authors: wheaton dk. Mol Vis. 2016 Oct 17;22:1239-1247. eCollection 2016. Mol Vis. 2016. PMID: 27777503 Free PMC article.

2

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Churchill JD, Bowne SJ, Sullivan LS, Lewis RA, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Daiger SP. Churchill JD, et al. Among authors: wheaton dk. Invest Ophthalmol Vis Sci. 2013 Feb 19;54(2):1411-6. doi: 10.1167/iovs.12-11541. Invest Ophthalmol Vis Sci. 2013. PMID: 23372056 Free PMC article.

3

Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.

Jones KD, Wheaton DK, Bowne SJ, Sullivan LS, Birch DG, Chen R, Daiger SP. Jones KD, et al. Among authors: wheaton dk. Mol Vis. 2017 Jul 20;23:470-481. eCollection 2017. Mol Vis. 2017. PMID: 28761320 Free PMC article.

4

Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Bowne SJ, Sullivan LS, Branham K, Wheaton DK, Jones KD, Avery CE, Cadena ED, Heckenlively JR, Birch DG. Daiger SP, et al. Among authors: wheaton dk. Adv Exp Med Biol. 2018;1074:237-245. doi: 10.1007/978-3-319-75402-4_29. Adv Exp Med Biol. 2018. PMID: 29721949 Free PMC article.

5

Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.

Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Ventura MJ, et al. Mol Genet Metab Rep. 2016 Nov 11;9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27872819 Free PMC article.

6

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP. Fahim AT, et al. Among authors: wheaton dk. PLoS One. 2011;6(8):e23021. doi: 10.1371/journal.pone.0023021. Epub 2011 Aug 12. PLoS One. 2011. PMID: 21857984 Free PMC article.

7

Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Fahim AT, Bowne SJ, Sullivan LS, Webb KD, Williams JT, Wheaton DK, Birch DG, Daiger SP. Fahim AT, et al. Among authors: wheaton dk. Adv Exp Med Biol. 2012;723:313-20. doi: 10.1007/978-1-4614-0631-0_41. Adv Exp Med Biol. 2012. PMID: 22183348 Free PMC article. No abstract available.

8

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, Bowne SJ, Sullivan LS, Luo H, Zhao L, Wang X, Zaneveld JE, Salvo JS, Siddiqui S, Mao L, Wheaton DK, Birch DG, Branham KE, Heckenlively JR, Wen C, Flagg K, Ferreyra H, Pei J, Khan A, Ren H, Wang K, Lopez I, Qamar R, Zenteno JC, Ayala-Ramirez R, Buentello-Volante B, Fu Q, Simpson DA, Li Y, Sui R, Silvestri G, Daiger SP, Koenekoop RK, Zhang K, Chen R. Wang F, et al. Among authors: wheaton dk. Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24. Hum Genet. 2014. PMID: 24154662 Free PMC article.

9

Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

Daiger SP, Sullivan LS, Bowne SJ, Koboldt DC, Blanton SH, Wheaton DK, Avery CE, Cadena ED, Koenekoop RK, Fulton RS, Wilson RK, Weinstock GM, Lewis RA, Birch DG. Daiger SP, et al. Among authors: wheaton dk. Adv Exp Med Biol. 2016;854:193-200. doi: 10.1007/978-3-319-17121-0_26. Adv Exp Med Biol. 2016. PMID: 26427411 Free PMC article.

10

Rates of decline in regions of the visual field defined by frequency-domain optical coherence tomography in patients with RPGR-mediated X-linked retinitis pigmentosa.

Birch DG, Locke KG, Felius J, Klein M, Wheaton DK, Hoffman DR, Hood DC. Birch DG, et al. Among authors: wheaton dk. Ophthalmology. 2015 Apr;122(4):833-9. doi: 10.1016/j.ophtha.2014.11.005. Epub 2014 Dec 31. Ophthalmology. 2015. PMID: 25556114 Free PMC article.

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