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A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
Mir A, Song Y, Lee H, Montazer-Zohouri M, Reisi M, Tabatabaiefar MA. Mir A, et al. Among authors: lee h. Mol Genet Genomic Med. 2023 Dec;11(12):e2261. doi: 10.1002/mgg3.2261. Epub 2023 Jul 26. Mol Genet Genomic Med. 2023. PMID: 37496384 Free PMC article. Review.
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes.
Martinez-Mayer J, Vishnopolska S, Perticarari C, Garcia LI, Hackbartt M, Martinez M, Zaiat J, Jacome-Alvarado A, Braslavsky D, Keselman A, Bergadá I, Marino R, Ramírez P, Garrido NP, Ciaccio M, Di Palma MI, Belgorosky A, Forclaz MV, Benzrihen G, D'Amato S, Cirigliano ML, Miras M, Nuñez AP, Castro L, Mallea-Gil MS, Ballarino C, Latorre-Villacorta L, Casiello AC, Hernandez C, Figueroa V, Alonso G, Morin A, Guntsche Z, Lee H, Lee E, Song Y, Marti MA, Perez-Millan MI. Martinez-Mayer J, et al. Among authors: lee e, lee h. J Clin Endocrinol Metab. 2024 May 8:dgae320. doi: 10.1210/clinem/dgae320. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38717911
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH, Lee H, Lee J, Han H, Cho YK, Kim M, Choi Y, Choi J, Choi IH, Rhie S, Chae KY, Kim YM, Cheon CK, Kim SJ, Lee J, Kang E, Byeon JH, Yu HJ, Shin YL, Oh A, Kim WJ, Yum MS, Lee BH, Eun BL. Seo GH, et al. Among authors: lee bh, lee h, lee j. Mol Med. 2022 Mar 26;28(1):38. doi: 10.1186/s10020-022-00464-x. Mol Med. 2022. PMID: 35346031 Free PMC article.
Congenital Stationary Night Blindness: Clinical and Genetic Features.
Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK. Kim AH, et al. Among authors: lee h. Int J Mol Sci. 2022 Nov 29;23(23):14965. doi: 10.3390/ijms232314965. Int J Mol Sci. 2022. PMID: 36499293 Free PMC article.
Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.
Brankovic M, Ivanovic V, Basta I, Khang R, Lee E, Stevic Z, Ralic B, Tubic R, Seo G, Markovic V, Bozovic I, Svetel M, Marjanovic A, Veselinovic N, Mesaros S, Jankovic M, Savic-Pavicevic D, Jovin Z, Novakovic I, Lee H, Peric S. Brankovic M, et al. Among authors: lee e, lee h. Neurogenetics. 2024 Mar 19. doi: 10.1007/s10048-024-00755-x. Online ahead of print. Neurogenetics. 2024. PMID: 38499745
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