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Page 1
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: downes s. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: downes s. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. Update in: Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055 PMID: 37333224 Free PMC article. Updated. Preprint.
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 Jan 9;14(1):8. doi: 10.1186/s13023-018-0980-6. Orphanet J Rare Dis. 2019. PMID: 30626441 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. J Med Genet. 2024 Jun 20;61(7):689-698. doi: 10.1136/jmg-2023-109728. J Med Genet. 2024. PMID: 38458752 Free PMC article.
Real-world six-month outcomes in patients switched to faricimab following partial response to anti-VEGF therapy for neovascular age-related macular degeneration and diabetic macular oedema.
Borchert GA, Kiire CA, Stone NM, Akil H, Gkika T, Fischer MD, Xue K, Cehajic-Kapetanovic J, MacLaren RE, Charbel Issa P, Downes SM, De Silva SR. Borchert GA, et al. Among authors: downes sm. Eye (Lond). 2024 Dec;38(18):3569-3577. doi: 10.1038/s41433-024-03364-y. Epub 2024 Oct 11. Eye (Lond). 2024. PMID: 39394370 Free PMC article.
A Digital Intervention for Capturing the Real-Time Health Data Needed for Epilepsy Seizure Forecasting: Protocol for a Formative Co-Design and Usability Study (The ATMOSPHERE Study).
Quilter EEV, Downes S, Deighan MT, Stuart L, Charles R, Tittensor P, Junges L, Kissack P, Qureshi Y, Kamaraj AK, Brigden A. Quilter EEV, et al. Among authors: downes s. JMIR Res Protoc. 2024 Sep 19;13:e60129. doi: 10.2196/60129. JMIR Res Protoc. 2024. PMID: 39298757 Free PMC article.
Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410, associated with selective cone degeneration.
Borchert GA, Shanks ME, Whitfield J, Clouston P, Raji S, Sperring S, Thompson JA, Xue K, De Silva SR, Downes SM, MacLaren RE, Cehajic-Kapetanovic J. Borchert GA, et al. Among authors: downes sm. Ophthalmic Genet. 2024 Dec;45(6):633-639. doi: 10.1080/13816810.2024.2369271. Epub 2024 Sep 4. Ophthalmic Genet. 2024. PMID: 39232248 Free PMC article.
352 results