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91 results

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Page 1
Genes and mutations causing retinitis pigmentosa.
Daiger SP, Sullivan LS, Bowne SJ. Daiger SP, et al. Among authors: sullivan ls. Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. Clin Genet. 2013. PMID: 23701314 Free PMC article. Review.
The Hang Up.
Sullivan LS. Sullivan LS. Hastings Cent Rep. 2020 May;50(3):15-16. doi: 10.1002/hast.1123. Hastings Cent Rep. 2020. PMID: 32596903
Climates of Distrust in Medicine.
Sullivan LS. Sullivan LS. Hastings Cent Rep. 2023 Sep;53 Suppl 2:S33-S38. doi: 10.1002/hast.1521. Hastings Cent Rep. 2023. PMID: 37963047
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, Manes G… See abstract for full author list ➔ Quinodoz M, et al. Among authors: sullivan ls. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa.
Daiger SP, Bowne SJ, Sullivan LS. Daiger SP, et al. Among authors: sullivan ls. Cold Spring Harb Perspect Med. 2014 Oct 10;5(10):a017129. doi: 10.1101/cshperspect.a017129. Cold Spring Harb Perspect Med. 2014. PMID: 25304133 Free PMC article. Review.
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S. de Bruijn SE, et al. Among authors: sullivan ls. Front Genet. 2024 Oct 23;15:1469686. doi: 10.3389/fgene.2024.1469686. eCollection 2024. Front Genet. 2024. PMID: 39507620 Free PMC article.
Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.
Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR; RP1 Consortium. Daiger SP, et al. Among authors: sullivan ls. Adv Exp Med Biol. 2003;533:1-11. doi: 10.1007/978-1-4615-0067-4_1. Adv Exp Med Biol. 2003. PMID: 15180241 Free PMC article. Review. No abstract available.
91 results