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Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
Burdon KP, Graham P, Hadler J, Hulleman JD, Pasutto F, Boese EA, Craig JE, Fingert JH, Hewitt AW, Siggs OM, Whisenhunt K, Young TL, Mackey DA, Dubowsky A, Souzeau E. Burdon KP, et al. Among authors: boese ea. Hum Mutat. 2022 Dec;43(12):2170-2186. doi: 10.1002/humu.24482. Epub 2022 Oct 19. Hum Mutat. 2022. PMID: 36217948 Free PMC article.
Mendelian genes in primary open angle glaucoma.
Sears NC, Boese EA, Miller MA, Fingert JH. Sears NC, et al. Among authors: boese ea. Exp Eye Res. 2019 Sep;186:107702. doi: 10.1016/j.exer.2019.107702. Epub 2019 Jun 22. Exp Eye Res. 2019. PMID: 31238079 Free PMC article. Review.
High Iris Insertion in Axenfeld-Rieger Syndrome.
Boese EA, Critser DB, Fingert JH. Boese EA, et al. Ophthalmology. 2020 Jun;127(6):768. doi: 10.1016/j.ophtha.2020.02.012. Ophthalmology. 2020. PMID: 32444018 No abstract available.
Nanophthalmos patient with a THR518MET mutation in MYRF, a case report.
Hagedorn J, Avdic A, Schnieders MJ, Roos BR, Kwon YH, Drack AV, Boese EA, Fingert JH. Hagedorn J, et al. Among authors: boese ea. BMC Ophthalmol. 2020 Oct 1;20(1):388. doi: 10.1186/s12886-020-01659-8. BMC Ophthalmol. 2020. PMID: 33004036 Free PMC article.
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
van der Heide C, Goar W, Meyer KJ, Alward WLM, Boese EA, Sears NC, Roos BR, Kwon YH, DeLuca AP, Siggs OM, Gonzaga-Jauregui C, Sheffield VC, Wang K, Stone EM, Mullins RF, Anderson MG, Fan BJ, Ritch R, Craig JE, Wiggs JL, Scheetz TE, Fingert JH. van der Heide C, et al. Among authors: boese ea. BMC Genomics. 2021 Jun 26;22(1):477. doi: 10.1186/s12864-021-07782-0. BMC Genomics. 2021. PMID: 34174832 Free PMC article.
Mutations in EFEMP1 in Patients with Juvenile Open-Angle Glaucoma.
Tejan-Kamara AZ, Boese EA, Pouw AE, Sears NC, Roos BR, Stone EM, Scheetz TE, Fingert JH. Tejan-Kamara AZ, et al. Among authors: boese ea. Ophthalmol Glaucoma. 2023 Nov-Dec;6(6):668-670. doi: 10.1016/j.ogla.2023.05.006. Epub 2023 May 22. Ophthalmol Glaucoma. 2023. PMID: 37224920 No abstract available.
32 results