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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.
Corradi Z, Khan M, Hitti-Malin R, Mishra K, Whelan L, Cornelis SS; ABCA4-Study Group; Hoyng CB, Kämpjärvi K, Klaver CCW, Liskova P, Stöhr H, Weber BHF, Banfi S, Farrar GJ, Sharon D, Zernant J, Allikmets R, Dhaenens CM, Cremers FPM. Corradi Z, et al. Among authors: zernant j. HGG Adv. 2023 Oct 12;4(4):100237. doi: 10.1016/j.xhgg.2023.100237. Epub 2023 Sep 12. HGG Adv. 2023. PMID: 37705246 Free PMC article.
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R. Jaakson K, et al. Among authors: zernant j. Hum Mutat. 2003 Nov;22(5):395-403. doi: 10.1002/humu.10263. Hum Mutat. 2003. PMID: 14517951
A novel mutation and phenotypes in phosphodiesterase 6 deficiency.
Tsang SH, Tsui I, Chou CL, Zernant J, Haamer E, Iranmanesh R, Tosi J, Allikmets R. Tsang SH, et al. Among authors: zernant j. Am J Ophthalmol. 2008 Nov;146(5):780-8. doi: 10.1016/j.ajo.2008.06.017. Epub 2008 Aug 23. Am J Ophthalmol. 2008. PMID: 18723146 Free PMC article.
Peripapillary atrophy in Stargardt disease.
Hwang JC, Zernant J, Allikmets R, Barile GR, Chang S, Smith RT. Hwang JC, et al. Among authors: zernant j. Retina. 2009 Feb;29(2):181-6. doi: 10.1097/IAE.0b013e31818a2c01. Retina. 2009. PMID: 18854780 Free PMC article.
78 results