Davidson AE - Search Results

1

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: davidson ae. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.

2

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. Sergouniotis PI, et al. Among authors: davidson ae. Am J Hum Genet. 2011 Jul 15;89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002. Am J Hum Genet. 2011. PMID: 21763485 Free PMC article.

3

Retinal structure, function, and molecular pathologic features in gyrate atrophy.

Sergouniotis PI, Davidson AE, Lenassi E, Devery SR, Moore AT, Webster AR. Sergouniotis PI, et al. Among authors: davidson ae. Ophthalmology. 2012 Mar;119(3):596-605. doi: 10.1016/j.ophtha.2011.09.017. Epub 2011 Dec 17. Ophthalmology. 2012. PMID: 22182799

4

Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3.

Dudakova L, Skalicka P, Davidson AE, Liskova P. Dudakova L, et al. Among authors: davidson ae. Cornea. 2019 Jun;38(6):758-760. doi: 10.1097/ICO.0000000000001930. Cornea. 2019. PMID: 30950897

5

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

Sergouniotis PI, Davidson AE, Sehmi K, Webster AR, Robson AG, Moore AT. Sergouniotis PI, et al. Among authors: davidson ae. Eye (Lond). 2011 Aug;25(8):1098-101. doi: 10.1038/eye.2011.88. Epub 2011 Apr 15. Eye (Lond). 2011. PMID: 21494281 Free PMC article. No abstract available.

6

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.

Low S, Davidson AE, Holder GE, Hogg CR, Bhattacharya SS, Black GC, Foster PJ, Webster AR. Low S, et al. Among authors: davidson ae. Mol Vis. 2011;17:2272-82. Epub 2011 Aug 23. Mol Vis. 2011. PMID: 21921978 Free PMC article.

7

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD. Ramsden SC, et al. Among authors: davidson ae. Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234150 Free PMC article. No abstract available.

8

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. Davidson AE, et al. Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17. Hum Mutat. 2013. PMID: 23281133

9

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Invest Ophthalmol Vis Sci. 2015 Jan 6;56(1):578-86. doi: 10.1167/iovs.14-15792. Invest Ophthalmol Vis Sci. 2015. PMID: 25564447 Free article.

10

IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.

Brejchova K, Dudakova L, Skalicka P, Dobrovolny R, Masek P, Putzova M, Moosajee M, Tuft SJ, Davidson AE, Liskova P. Brejchova K, et al. Among authors: davidson ae. Invest Ophthalmol Vis Sci. 2019 Jul 1;60(8):3084-3090. doi: 10.1167/iovs.19-26930. Invest Ophthalmol Vis Sci. 2019. PMID: 31323090 Free PMC article.

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