Heon E - Search Results

1

Screening of Chemical Libraries Using a Yeast Model of Retinal Disease.

Scott BM, Wybenga-Groot LE, McGlade CJ, Heon E, Peisajovich SG, Chang BSW. Scott BM, et al. Among authors: heon e. SLAS Discov. 2019 Dec;24(10):969-977. doi: 10.1177/2472555219875934. Epub 2019 Sep 26. SLAS Discov. 2019. PMID: 31556794 Free article.

2

Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Scott BM, Chen SK, Bhattacharyya N, Moalim AY, Plotnikov SV, Heon E, Peisajovich SG, Chang BSW. Scott BM, et al. Among authors: heon e. Genetics. 2019 Feb;211(2):597-615. doi: 10.1534/genetics.118.301733. Epub 2018 Dec 4. Genetics. 2019. PMID: 30514708 Free PMC article.

3

Utility of molecular testing for related retinal dystrophies.

Mezer E, Sutherland J, Goei SL, Héon E, Levin AV. Mezer E, et al. Among authors: heon e. Can J Ophthalmol. 2006 Apr;41(2):190-6. doi: 10.1139/I06-007. Can J Ophthalmol. 2006. PMID: 16767206

4

Assessment of central retinal function in patients with advanced retinitis pigmentosa.

Gerth C, Wright T, Héon E, Westall CA. Gerth C, et al. Among authors: heon e. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1312-8. doi: 10.1167/iovs.06-0630. Invest Ophthalmol Vis Sci. 2007. PMID: 17325178

5

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Charng J, et al. Among authors: heon e. Hum Mol Genet. 2016 Dec 15;25(24):5444-5459. doi: 10.1093/hmg/ddw361. Hum Mol Genet. 2016. PMID: 27798110 Free PMC article.

6

FLVCR1-related disease as a rare cause of retinitis pigmentosa and hereditary sensory autonomic neuropathy.

Grudzinska Pechhacker MK, Yoon G, Hazrati LN, Maynes J, MacDonald H, Tavares E, Vincent A, Heon E. Grudzinska Pechhacker MK, et al. Among authors: heon e. Eur J Med Genet. 2020 Nov;63(11):104037. doi: 10.1016/j.ejmg.2020.104037. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822874

7

Specific retinal phenotype in early IQCB1-related disease.

Vincent A, AlAli A, MacDonald H, VandenHoven C, Héon E. Vincent A, et al. Among authors: heon e. Eye (Lond). 2018 Mar;32(3):646-651. doi: 10.1038/eye.2017.283. Epub 2017 Dec 8. Eye (Lond). 2018. PMID: 29219953 Free PMC article.

8

Unique retinal signaling defect in GNB5-related disease.

Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Shao Z, et al. Among authors: heon e. Doc Ophthalmol. 2020 Jun;140(3):273-277. doi: 10.1007/s10633-019-09735-1. Epub 2019 Nov 12. Doc Ophthalmol. 2020. PMID: 31720979

9

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

Lenassi E, Vincent A, Li Z, Saihan Z, Coffey AJ, Steele-Stallard HB, Moore AT, Steel KP, Luxon LM, Héon E, Bitner-Glindzicz M, Webster AR. Lenassi E, et al. Among authors: heon e. Eur J Hum Genet. 2015 Oct;23(10):1318-27. doi: 10.1038/ejhg.2014.283. Epub 2015 Feb 4. Eur J Hum Genet. 2015. PMID: 25649381 Free PMC article.

10

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.

Moran J, G Sanderson K, Maynes J, Vig A, Batmanabane V, Kannu P, Tavares E, Vincent A, Héon E. Moran J, et al. Among authors: heon e. Clin Genet. 2018 Oct;94(3-4):368-372. doi: 10.1111/cge.13408. Epub 2018 Jul 17. Clin Genet. 2018. PMID: 29923190

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