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Brain : a Journal of Neurology|November 3, 2020
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathyChin-Hsien Lin, Pei-I Tsai, Han-Yi Lin, et al.European Journal of Human Genetics : EJHG|January 28, 2026
De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorderCéline Jost, Tiffany Busa, Daniel Wegner, et al.NPJ Genomic Medicine|August 10, 2019
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern ChineseMullin Ho-Chung Yu, Mandy Ho-Yin Tsang, Sophie Lai, et al.American Journal of Human Genetics|March 3, 2018
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2Petra Lassuthova, Adriana P Rebelo, Gianina Ravenscroft, et al.Nature Communications|March 28, 2023
Domain-specific p53 mutants activate EGFR by distinct mechanisms exposing tissue-independent therapeutic vulnerabilitiesTeresa Lai Fong Ho, May Yin Lee, Hui Chin Goh, et al.American Journal of Human Genetics|February 19, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME DysplasiaHae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, et al.Nature Communications|November 11, 2017
Prevalence and detection of low-allele-fraction variants in clinical cancer samplesHyun-Tae Shin, Yoon-La Choi, Jae Won Yun, et al.Experimental Neurology|October 2, 2024
The GENESIS database and tools: A decade of discovery in Mendelian genomicsMatt C Danzi, Eric Powell, Adriana P Rebelo, et al.Science Advances|May 16, 2025
Capturing structural intermediates in an animal-like cryptochrome photoreceptor by time-resolved crystallographyManuel Maestre-Reyna, Yuhei Hosokawa, Po-Hsun Wang, et al.Nature Chemistry|April 8, 2022
Serial crystallography captures dynamic control of sequential electron and proton transfer events in a flavoenzymeManuel Maestre-Reyna, Cheng-Han Yang, Eriko Nango, et al.Pageof 148