Sergouniotis PI - Search Results

1

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. Among authors: sergouniotis pi. Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17. Hum Mutat. 2013. PMID: 23281133

2

Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration.

Julian TH, Cooper-Knock J, MacGregor S, Guo H, Aslam T, Sanderson E, Black GCM, Sergouniotis PI. Julian TH, et al. Among authors: sergouniotis pi. Elife. 2023 Jan 27;12:e82546. doi: 10.7554/eLife.82546. Elife. 2023. PMID: 36705323 Free PMC article.

3

From genetic variation to precision medicine.

Sergouniotis PI, Fitzgerald T, Birney E. Sergouniotis PI, et al. Camb Prism Precis Med. 2023 Jan 24;1:e7. doi: 10.1017/pcm.2022.11. eCollection 2023. Camb Prism Precis Med. 2023. PMID: 38550939 Free PMC article.

4

A multilayered approach to the analysis of genetic data from individuals with suspected albinism.

Sergouniotis PI, Michaud V, Lasseaux E, Campbell C, Plaisant C, Javerzat S, Birney E, Ramsden SC, Black GC, Arveiler B. Sergouniotis PI, et al. J Med Genet. 2023 Nov 27;60(12):1245-1249. doi: 10.1136/jmg-2022-109088. J Med Genet. 2023. PMID: 37460203 Free PMC article.

5

Reply.

Linton E, Jalil A, Sergouniotis P, Moussa G, Black G, Charles S, Ivanova T. Linton E, et al. Retina. 2023 Sep 1;43(9):e53. doi: 10.1097/IAE.0000000000003830. Retina. 2023. PMID: 37155940 No abstract available.

6

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.

7

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.

8

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR. Mukhopadhyay R, et al. Among authors: sergouniotis pi. Mol Vis. 2010 Mar 26;16:540-8. Mol Vis. 2010. PMID: 20361016 Free PMC article.

9

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

10

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

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