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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.
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.
Retinal Disorders.
Sahel JA, Banin E, Bennett J, Duncan JL, Roska B. Sahel JA, et al. Cold Spring Harb Perspect Med. 2024 Apr 2:a041728. doi: 10.1101/cshperspect.a041728. Online ahead of print. Cold Spring Harb Perspect Med. 2024. PMID: 38565268
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
Fully Automated OCT-based Tissue Screening System.
Pi S, Ganjee R, Wang L, Arbuckle RK, Zhao C, Sahel JA, Wang B, Chen Y. Pi S, et al. Among authors: sahel ja. ArXiv [Preprint]. 2024 May 15:arXiv:2405.09601v1. ArXiv. 2024. PMID: 38800655 Free PMC article. Preprint.
[Ophthalmological research in Germany: evaluation by an international expert panel].
Ader M, Cursiefen C, Fauser S, Gliem M, Helbig H, Lagrèze W, Marshall J, Roesky C, Sahel JA, Schlötzer-Schrehard U, Sieving P, Ueffing M. Ader M, et al. Among authors: sahel ja. Ophthalmologie. 2024 May 22. doi: 10.1007/s00347-024-02043-3. Online ahead of print. Ophthalmologie. 2024. PMID: 38775988 German.
639 results