Does Longitudinal Targeted Panel Sequencing Provide Clinically Relevant Information in Translocation-Associated Sarcomas? We analyzed germline testing results from 26,159 patients with cancer ...
Novel and known TRPC6 variants demonstrated marked phenotypic heterogeneity without clear genotype-phenotype correlation.
Quality of care (QoC) measures among patients with high-risk non–muscle-invasive bladder cancer (HR-NMIBC) who are unresponsive to bacillus Calmette-Guérin (BCG) treatment: A SEER-Medicare analysis.
Urinary bladder paragangliomas (UBPGLs) are rare neuroendocrine tumours, comprising <0.05% of bladder neoplasms. We report a case of a male in his early 30s presenting with persistent lower abdominal ...
Please provide your email address to receive an email when new articles are posted on . Prevalence of pathogenic variants in cancer-susceptibility genes appeared independent of personal or family ...
RBM20 truncating variants ( RBM20 tvs) appear to contribute to arrhythmogenic dilated cardiomyopathy (DCM) but with ...
Recent studies have identified new genetic variants linked to autism spectrum disorder and demonstrated RNA-based therapies that reverse autism-like symptoms in preclinical models. UT Southwestern ...
New genome study uncovers 133 previously unknown dementia-linked variants and shows how genetic risks vary across global populations, reshaping the path to personalized Alzheimer’s care. Study: ...
Two new studies from UT Southwestern's Chahrour Lab have identified how rare variants in the KDM5A and UBE3B genes contribute to autism spectrum disorder, offering insights that could inform genetic ...
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