Sergouniotis PI - Search Results

1

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.

2

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: sergouniotis pi. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.

3

Clinical and molecular characterization of enhanced S-cone syndrome in children.

Hull S, Arno G, Sergouniotis PI, Tiffin P, Borman AD, Chandra A, Robson AG, Holder GE, Webster AR, Moore AT. Hull S, et al. Among authors: sergouniotis pi. JAMA Ophthalmol. 2014 Nov;132(11):1341-9. doi: 10.1001/jamaophthalmol.2014.2343. JAMA Ophthalmol. 2014. PMID: 25079116

4

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

5

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.

Sergouniotis PI, Robson AG, Li Z, Devery S, Holder GE, Moore AT, Webster AR. Sergouniotis PI, et al. Acta Ophthalmol. 2012 May;90(3):e192-7. doi: 10.1111/j.1755-3768.2011.02267.x. Epub 2011 Oct 19. Acta Ophthalmol. 2012. PMID: 22008250 Free article.

6

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

7

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.

8

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.

9

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.

10

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.

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