Associated Papers
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M et al.
American Journal of Human Genetics, 2023
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
Hamanaka K et al.
Genome Medicine, 2022
Identification of recurrent FHL2-GLI2 oncogenic fusion in sclerosing stromal tumors of the ovary.
Kim SH et al.
Nature Communications, 2020
31896750 (PubMed )
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