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Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Neelathi UM, et al. Among authors: bender c. medRxiv [Preprint]. 2024 Nov 11:2024.11.09.24316578. doi: 10.1101/2024.11.09.24316578. medRxiv. 2024. PMID: 39606382 Free PMC article. Preprint.
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome.
Neelathi UM, Ullah E, George A, Maftei MI, Boobalan E, Sanchez-Mendoza D, Adams C, McGaughey D, Sergeev YV, Rawi RA, Naik A, Bender C, Maumenee IH, Michaelides M, Tan TG, Lin S, Villasmil R, Blain D, Hufnagel RB, Arno G, Young RM, Guan B, Brooks BP. Neelathi UM, et al. Among authors: bender c. Res Sq [Preprint]. 2024 Nov 15:rs.3.rs-5375105. doi: 10.21203/rs.3.rs-5375105/v1. Res Sq. 2024. PMID: 39606449 Free PMC article. Preprint.
The qMini assay identifies an overlooked class of splice variants.
Guan B, Bender C, Pantrangi M, Moore N, Reeves M, Naik A, Li H, Goetz K, Blain D, Agather A, Cukras C, Zein WM, Huryn LA, Brooks BP, Hufnagel RB. Guan B, et al. Among authors: bender c. medRxiv [Preprint]. 2023 Nov 3:2023.11.02.23297963. doi: 10.1101/2023.11.02.23297963. medRxiv. 2023. PMID: 38076877 Free PMC article. Preprint.
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: bender c. 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.
Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.
Ullah E, Lin S, Lu J, Bender C, Webster AR, Malka S, Madhusudhan S, Rees E, Williams D, Agather AR, Cukras CA, Hufnagel RB, Chen R, Huryn LA, Arno G, Guan B. Ullah E, et al. Among authors: bender c. JAMA Ophthalmol. 2024 Nov 1;142(11):1081-1086. doi: 10.1001/jamaophthalmol.2024.3836. JAMA Ophthalmol. 2024. PMID: 39325468
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure.
Boobalan E, Thompson AH, Alur RP, McGaughey DM, Dong L, Shih G, Vieta-Ferrer ER, Onojafe IF, Kalaskar VK, Arno G, Lotery AJ, Guan B, Bender C, Memon O, Brinster L, Soleilhavoup C, Panman L, Badea TC, Minella A, Lopez AJ, Thomasy SM, Moshiri A, Blain D, Hufnagel RB, Cogliati T, Bharti K, Brooks BP. Boobalan E, et al. Among authors: bender c. Invest Ophthalmol Vis Sci. 2022 Nov 1;63(12):5. doi: 10.1167/iovs.63.12.5. Invest Ophthalmol Vis Sci. 2022. PMID: 36326727 Free PMC article.
693 results