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Page 1
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: michaelides m. medRxiv [Preprint]. 2024 Nov 11:2024.11.09.24316578. doi: 10.1101/2024.11.09.24316578. medRxiv. 2024. PMID: 39606382 Free PMC article. Preprint.
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
Schiff ER, Daich Varela M, Robson AG, Pierpoint K, Ba-Abbad R, Nutan S, Zein WM, Ullah E, Huryn LA, Tuupanen S, Mahroo OA, Michaelides M, Burke D, Harvey K, Arno G, Hufnagel RB, Webster AR. Schiff ER, et al. Among authors: michaelides m. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):631-643. doi: 10.1002/ajmg.c.31822. Epub 2020 Aug 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32770643 Free PMC article.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, 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 MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: michaelides m. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN, Esposti SD, Mahroo OA, Arno G, Pontikos N, Wright G, Webster AR, Khan KN, Michaelides M. Sheck LHN, et al. Among authors: michaelides m. Mol Genet Genomic Med. 2021 Dec;9(12):e1663. doi: 10.1002/mgg3.1663. Epub 2021 Mar 22. Mol Genet Genomic Med. 2021. PMID: 33749171 Free PMC article.
706 results