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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: han j. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.
Clinical utility gene card for FRMD7-related infantile nystagmus.
Dawar B, Kuht HJ, Han J, Maconachie GDE, Thomas MG. Dawar B, et al. Among authors: han j. Eur J Hum Genet. 2021 Oct;29(10):1584-1588. doi: 10.1038/s41431-021-00826-9. Epub 2021 Feb 25. Eur J Hum Genet. 2021. PMID: 33633368 Free PMC article. No abstract available.
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