Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

176 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.
Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, Pontikos N, Liu X, Nakamura N, Kurihara T, Tsubota K, Iwata T, Li H, Zou X, Wu S, Sun Z, Ahn SJ, Kim MS, Mun YS, Park KH, Robson AG, Miyake Y, Woo SJ, Sui R, Fujinami K; East Asia Inherited Retinal Disease Society Study Group. Yang L, et al. Among authors: arno g. Am J Ophthalmol. 2021 Jan;221:169-180. doi: 10.1016/j.ajo.2020.07.025. Epub 2020 Jul 21. Am J Ophthalmol. 2021. PMID: 32707201 Free article.
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: arno g. 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.
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG; UCL-Exomes Consortium; Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V. Sergouniotis PI, et al. Among authors: arno g. Am J Hum Genet. 2014 May 1;94(5):760-9. doi: 10.1016/j.ajhg.2014.04.003. Am J Hum Genet. 2014. PMID: 24791901 Free PMC article.
Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.
Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Sergouniotis PI, et al. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604. Invest Ophthalmol Vis Sci. 2015. PMID: 26720460 Free article.
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Hull S, Arno G, Ku CA, Ge Z, Waseem N, Chandra A, Webster AR, Robson AG, Michaelides M, Weleber RG, Davagnanam I, Chen R, Holder GE, Pennesi ME, Moore AT. Hull S, et al. Among authors: arno g. JAMA Ophthalmol. 2016 Jul 1;134(7):753-62. doi: 10.1001/jamaophthalmol.2016.1073. JAMA Ophthalmol. 2016. PMID: 27259167
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium. Arno G, et al. JAMA Ophthalmol. 2016 Aug 1;134(8):924-7. doi: 10.1001/jamaophthalmol.2016.1543. JAMA Ophthalmol. 2016. PMID: 27281386
176 results