Author

Chang-Rui Xiao

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Case report Open access Sep 2026

Case Report: Concordance of cerebrospinal fluid-derived circulating tumor DNA with tumor tissue in spinal glioblastoma associated with Lynch syndrome

Background Spinal glioblastoma (GBM) is an exceptionally rare entity and poses significant diagnostic challenges due to a substantial risk of neurological morbidity with surgical biopsy. Tissue-based analyses are frequently limited by sampling constraints and tumor heterogeneity. Conventional diagnostic modalities, inc...

Carlen A. Yuen, David O. Kamson, Chang-Rui Xiao et al. · Frontiers in Oncology · 0 citations

Open access Sep 2026

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

Background A growing body of work has highlighted advantages of long-read genome sequencing (LR-GS) over short-read genome sequencing (SR-GS) with regards to the detection and interpretation of pathogenic variants. However, the incremental diagnostic yield of LR-GS over SR-GS for patients with suspected Mendelian condi...

Georgia Pitsava, Krista K. Bluske, Rebekah Barrick et al. · medRxiv · 0 citations

Open access Aug 2026

Systems genetics approaches model the heritable architecture of polyendocrine metabolic ovarian syndrome.

It is shown that increased ovarian area contributes to both PMOS susceptibility and ovarian cancer progression, while specific ovary-heart signaling circuits modulate cardiac function with aging, and SF3B1-mediated splicing is uncovered as a link between ovary function and systemic metabolism.

Christy M. Nguyen, L. Velez, Youngseo Cheon et al. · Journal of Clinical Investig... · 0 citations