Hughbanks-Wheaton D - Search Results

1

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A. Friedman JS, et al. Among authors: hughbanks wheaton d. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. Am J Hum Genet. 2009. PMID: 19520207 Free PMC article.

2

Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.

Wen Y, Locke KG, Klein M, Bowne SJ, Sullivan LS, Ray JW, Daiger SP, Birch DG, Hughbanks-Wheaton DK. Wen Y, et al. Among authors: hughbanks wheaton dk. Arch Ophthalmol. 2011 Nov;129(11):1475-82. doi: 10.1001/archophthalmol.2011.307. Arch Ophthalmol. 2011. PMID: 22084217 Free PMC article.

3

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Bowne SJ, et al. Hum Mol Genet. 2002 Mar 1;11(5):559-68. doi: 10.1093/hmg/11.5.559. Hum Mol Genet. 2002. PMID: 11875050 Free PMC article.

4

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Bowne SJ, et al. Among authors: hughbanks wheaton d. Mol Vis. 2008 May 19;14:922-7. Mol Vis. 2008. PMID: 18509552 Free PMC article.

5

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

Kozma P, Hughbanks-Wheaton DK, Locke KG, Fish GE, Gire AI, Spellicy CJ, Sullivan LS, Bowne SJ, Daiger SP, Birch DG. Kozma P, et al. Am J Ophthalmol. 2005 Nov;140(5):858-867. doi: 10.1016/j.ajo.2005.05.027. Epub 2005 Oct 7. Am J Ophthalmol. 2005. PMID: 16214101 Free PMC article.

6

Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.

Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, Stone EM, Daiger SP. Shankar SP, et al. Among authors: hughbanks wheaton dk. JAMA Ophthalmol. 2015 May;133(5):511-7. doi: 10.1001/jamaophthalmol.2014.6115. JAMA Ophthalmol. 2015. PMID: 25675413 Free PMC article.

7

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS. Bowne SJ, et al. Mol Vis. 2003 Apr 24;9:129-37. Mol Vis. 2003. PMID: 12724644 Free PMC article.

8

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. Bowne SJ, et al. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868. Invest Ophthalmol Vis Sci. 2006. PMID: 16384941 Free PMC article.

9

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Sullivan LS, et al. Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64. doi: 10.1167/iovs.05-1443. Invest Ophthalmol Vis Sci. 2006. PMID: 16799052 Free PMC article.

10

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Sullivan LS, et al. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88. doi: 10.1167/iovs.06-0440. Invest Ophthalmol Vis Sci. 2006. PMID: 17003455 Free PMC article.

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