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Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: sahel ja. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Optical coherence tomography angiography of choroidal neovascularization in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).
Wongchaisuwat N, Wang J, Yang P, Everett L, Gregor A, Sahel JA, Nischal KK, Pennesi ME, Gillingham MB, Jia Y. Wongchaisuwat N, et al. Among authors: sahel ja. Am J Ophthalmol Case Rep. 2023 Nov 20;32:101958. doi: 10.1016/j.ajoc.2023.101958. eCollection 2023 Dec. Am J Ophthalmol Case Rep. 2023. PMID: 38161518 Free PMC article.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Sangermano R, Gupta P, Price C, Han J, Navarro J, Condroyer C, Place EM, Antonio A, Mukai S, Zanlonghi X, Sahel JA, Duncan JL, Pierce EA, Zeitz C, Audo I, Huckfeldt RM, Bujakowska KM. Sangermano R, et al. Among authors: sahel ja. Res Sq [Preprint]. 2024 Feb 9:rs.3.rs-3871956. doi: 10.21203/rs.3.rs-3871956/v1. Res Sq. 2024. PMID: 38405922 Free PMC article. Preprint.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: sahel ja. J Inherit Metab Dis. 2024 Apr 16. doi: 10.1002/jimd.12738. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38623632
635 results