Publications
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2024 ;52(4):e18.
. Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 ;:101125.
. Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy. medRxiv. 2024 ;.
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