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Annals of Clinical and Translational Neurology|October 15, 2020
Novel NUDT2 variant causes intellectual disability and polyneuropathyFrank Diaz, Shaweta Khosa, Dmitriy Niyazov, et al.
American Journal of Human Genetics|March 3, 2015
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delayValerie A Arboleda, Hane Lee, Naghmeh Dorrani, et al.
The Journal of Biological Chemistry|November 19, 2002
Characterization of the movement of the kinesin motor KIF1A in living cultured neuronsJae-Ran Lee, Hyewon Shin, Jaewon Ko, et al.
Laboratory Medicine|July 19, 2023
Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disabilityAtefeh Mir, Yongjun Song, Hane Lee, et al.
Archives of Ophthalmology (Chicago, Ill. : 1960)|September 15, 2010
Identification of candidate tumor oncogenes by integrative molecular analysis of choroidal melanoma fine-needle aspiration biopsy specimensTara A McCannel, Barry L Burgess, Nagesh P Rao, et al.
Nucleic Acids Research|December 16, 2004
Detecting tissue-specific regulation of alternative splicing as a qualitative change in microarray dataKeith Le, Katherine Mitsouras, Meenakshi Roy, et al.
Human Mutation|November 8, 2006
Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arraysChristopher M Stanczak, Zugen Chen, Yao-Hua Zhang, et al.
Cellular and Molecular Biology (Noisy-Le-Grand, France)|March 20, 2003
Identification of genes required for immortalization in human papillomavirus-infected human oral keratinocytesJunko Nishitani, Zugen Chen, Min Qin, et al.
The Journal of Biological Chemistry|January 4, 2007
Oxysterols are novel activators of the hedgehog signaling pathway in pluripotent mesenchymal cellsJennifer R Dwyer, Navdar Sever, Marc Carlson, et al.
The Lancet. Neurology|April 15, 2019
Clinical application of next-generation sequencing to the practice of neurologyJessica Rexach, Hane Lee, Julian A Martinez-Agosto, et al.
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