Polygenic variants in DNA repair genes are associated with neurodevelopmental disorders, regression and increased burdens of somatic variants and short tandem repeat expansions.
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Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
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Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025