Co-Authors
This is a "connection" page, showing publications co-authored by SHINYA YAMAMOTO and Jung-Wan Mok.
Connection Strength
1.541
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Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases. Genome Res. 2025 Jun 04.
Score: 0.994
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Functional analysis of pathogenic variants in LAMB1-related leukoencephalopathy reveals genotype-phenotype correlations and suggests its role in glial cells. Hum Mol Genet. 2025 May 17; 34(11):990-999.
Score: 0.248
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Apr 10; 27(7):101429.
Score: 0.246
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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833.
Score: 0.053