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A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Among authors: daich varela m. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
Structural evaluation in inherited retinal diseases.
Daich Varela M, Esener B, Hashem SA, Cabral de Guimaraes TA, Georgiou M, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2021 Dec;105(12):1623-1631. doi: 10.1136/bjophthalmol-2021-319228. Epub 2021 May 12. Br J Ophthalmol. 2021. PMID: 33980508 Free PMC article. Review.
Gene Therapy in X-linked Retinitis Pigmentosa Due to Defects in RPGR.
Georgiou M, Awadh Hashem S, Daich Varela M, Michaelides M. Georgiou M, et al. Among authors: daich varela m. Int Ophthalmol Clin. 2021 Oct 1;61(4):97-108. doi: 10.1097/IIO.0000000000000384. Int Ophthalmol Clin. 2021. PMID: 34584047 No abstract available.
Functional evaluation in inherited retinal disease.
Daich Varela M, Georgiou M, Hashem SA, Weleber RG, Michaelides M. Daich Varela M, et al. Br J Ophthalmol. 2022 Nov;106(11):1479-1487. doi: 10.1136/bjophthalmol-2021-319994. Epub 2021 Nov 25. Br J Ophthalmol. 2022. PMID: 34824084 Review.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Daich Varela M, et al. Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. Hum Mol Genet. 2023. PMID: 36084042 Free PMC article.
43 results