Hosono K, Kawase K, Kurata K, Niimi Y, Saitsu H, Minoshima S, Ohnishi H, Yamamoto T, Hikoya A, Tachibana N, Fukao T, Yamamoto T, Hotta Y. A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation. Ophthalmic Genet. 41(2):175-182, 2020. [1.308]
Hayashi T, Hosono K, Kubo A, Kurata K, Katagiri S, Mizobuchi K, Kurai M, Mamiya N, Kondo M, Tachibana T, Saitsu H, Ogata T, Nakano T, Hotta Y. Long-term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1. Am J Med Genet A 182(6):1500-1505, 2020. [2.125]
Muraki R, Morita Y, Ida S, Kitajima R, Furuhashi S, Kiuchi R, Takeda M, Kikuchi H, Hiramatsu Y, Sakaguchi T, Kasuya A, Hotta Y, Takeuchi H. Multimodal therapy with surgery and adjuvant nivolumab for late-onset multiple liver metastases of choroidal malignant melanoma: a case report. Surg Case Rep 6(1):187, 2020. doi: 10.1186/s40792-020-00948-0.
Yamazaki H, Nakamura T, Hosono K, Yamaguchi T, Hiratsuka Y, Hotta Y, Takahashi M. Sensorineural hearing loss and hypoplastic cochlea in Axenfeld-Rieger syndrome with FOXC1 mutation. Auris Nasus Larynx. 2020 Jul 30:S0385-8146(20)30164-4. doi: 10.1016/j.anl.2020.07.006. Online ahead of print. [1.436]
Inagaki R, Suzuki H, Haseoka T, Arai S, Takagi Y, Hikoya A, Komori M, Hotta Y, Sato M. Effects of the gaze fixation position on AS-OCT measurements of the limbus and extraocular muscle insertion site distance. J Pediatr Ophthalmol Strabismus 58(1)28-33, 2021. [1.100]
Haque MN, Ohtsubo M, Nishina S, Nakao S, Yoshida K, Hosono K, Kurata K, Ohishi K, Fukami M, Sato M, Hotta Y, Azuma N, Minoshima S. Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism. J Hum Genet 66(2):205-214, 2021. [2.831]
Haseoka T, Inagaki R, Kurata K, Arai S, Takagi Y, Suzuki H, Hikoya A, Nishimura K, Hotta Y, Sato M. Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children. Jpn J Ophthalmol 65(1):23-29, 2021. [1.725]
Komori M, Suzuki H, Iimori H, Hikoya A, Hotta Y, Sato M. Two cases of acquired bilateral trochlea nerve palsy treated by simultaneous inferior rectus muscle nasal transposition and inferior oblique muscle myectomy. Am J Ophthalmol Case Rep. 2021 Jan 12;21:101011. doi: 10.1016/j.ajoc.2021.101011. eCollection 2021 Mar. [0.756]