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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: ullah e. 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.
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: ullah e. medRxiv [Preprint]. 2024 Nov 11:2024.11.09.24316578. doi: 10.1101/2024.11.09.24316578. medRxiv. 2024. PMID: 39606382 Free PMC article. Preprint.
SLC16A8 is a causal contributor to age-related macular degeneration risk.
Nouri N, Gussler BH, Stockwell A, Truong T, Kang GJ, Browder KC, Malato Y, Sene A, Van Everen S, Wykoff CC, Brown D, Fu A, Palmer JD, Lima de Carvalho JR, Ullah E, Al Rawi R, Chew EY, Zein WM, Guan B, McCarthy MI, Hofmann JW, Chaney SY, Jasper H, Yaspan BL. Nouri N, et al. Among authors: ullah e. NPJ Genom Med. 2024 Oct 28;9(1):50. doi: 10.1038/s41525-024-00442-8. NPJ Genom Med. 2024. PMID: 39468037 Free PMC article.
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. JAMA Ophthalmol. 2024 Nov 1;142(11):1081-1086. doi: 10.1001/jamaophthalmol.2024.3836. JAMA Ophthalmol. 2024. PMID: 39325468
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
116 results