Sergouniotis PI - Search Results

1

EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.

Lenassi E, Carvalho A, Thormann A, Abrahams L, Arno G, Fletcher T, Hardcastle C, Lopez J, Hunt SE, Short P, Sergouniotis PI, Michaelides M, Webster A, Cunningham F, Ramsden SC, Kasperaviciute D, Fitzpatrick DR; Genomics England Research Consortium; Black GC, Ellingford JM. Lenassi E, et al. Among authors: sergouniotis pi. J Med Genet. 2023 Aug;60(8):810-818. doi: 10.1136/jmg-2022-108618. Epub 2023 Jan 20. J Med Genet. 2023. PMID: 36669873 Free PMC article.

2

A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.

Clark R, Lee SS, Du R, Wang Y, Kneepkens SCM, Charng J, Huang Y, Hunter ML, Jiang C, Tideman JWL, Melles RB, Klaver CCW, Mackey DA, Williams C, Choquet H, Ohno-Matsui K, Guggenheim JA; CREAM Consortium; UK Biobank Eye and Vision Consortium. Clark R, et al. EBioMedicine. 2023 May;91:104551. doi: 10.1016/j.ebiom.2023.104551. Epub 2023 Apr 11. EBioMedicine. 2023. PMID: 37055258 Free PMC article.

3

Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.

Sergouniotis PI, Maxime E, Leroux D, Olry A, Thompson R, Rath A, Robinson PN, Dollfus H; ERN-EYE Ontology Study Group. Sergouniotis PI, et al. Orphanet J Rare Dis. 2019 Aug 15;14(1):200. doi: 10.1186/s13023-019-1156-8. Orphanet J Rare Dis. 2019. PMID: 31416457 Free PMC article.

4

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Li Z, et al. Among authors: sergouniotis pi. Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878917 Free PMC article.

5

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043. Invest Ophthalmol Vis Sci. 2011. PMID: 20811058

6

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT. Henderson RH, et al. Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17. Br J Ophthalmol. 2011. PMID: 20956273

7

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.

Davidson AE, Sergouniotis PI, Burgess-Mullan R, Hart-Holden N, Low S, Foster PJ, Manson FD, Black GC, Webster AR. Davidson AE, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Dec 31;16:2916-22. Mol Vis. 2010. PMID: 21203346 Free PMC article.

8

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS, Ocaka LA, Borman AD, Sergouniotis PI, Henderson RH, Moradi P, Robson AG, Thompson DA, Webster AR, Moore AT. Mackay DS, et al. Among authors: sergouniotis pi. Invest Ophthalmol Vis Sci. 2011 May 9;52(6):3032-8. doi: 10.1167/iovs.10-7025. Invest Ophthalmol Vis Sci. 2011. PMID: 21310915

9

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

Sergouniotis PI, Holder GE, Robson AG, Michaelides M, Webster AR, Moore AT. Sergouniotis PI, et al. Br J Ophthalmol. 2012 Feb;96(2):213-7. doi: 10.1136/bjo.2011.203638. Epub 2011 May 10. Br J Ophthalmol. 2012. PMID: 21558291

10

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. 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.

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