Publications

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.

Ross JE, Flowers M, McNulty S, et al. Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. Journal of neuromuscular diseases. 2025:22143602251339369. doi:10.1177/22143602251339369

High-Throughput Screening Tool to Identify Small Molecule Inhibitors of Telomerase.

Aquilanti E, Barkho S, Bozinov V, et al. High-Throughput Screening Tool to Identify Small Molecule Inhibitors of Telomerase. ACS chemical biology. 2025;20(7):1707-1714. doi:10.1021/acschembio.5c00244

Traditional Serrated Adenomas Associated With Risk of Subsequent High-Risk Polyps and Colorectal Cancer.

Chen Y, Polychronidis G, Zhang Y, et al. Traditional Serrated Adenomas Associated With Risk of Subsequent High-Risk Polyps and Colorectal Cancer. The American journal of gastroenterology. 2025. doi:10.14309/ajg.0000000000003588

Characterization of the genomic landscape of canine oral osteosarcoma reveals similarities with appendicular osteosarcoma.

Husted C, Adrianowycz S, Peterson C, et al. Characterization of the genomic landscape of canine oral osteosarcoma reveals similarities with appendicular osteosarcoma. PloS one. 2025;20(6):e0325181. doi:10.1371/journal.pone.0325181

An in vivo barcoded CRISPR-Cas9 screen identifies Ncoa4-mediated ferritinophagy as a dependence in Tet2-deficient hematopoiesis.

Loke J, Kim PG, Nguyen TTP, et al. An in vivo barcoded CRISPR-Cas9 screen identifies Ncoa4-mediated ferritinophagy as a dependence in Tet2-deficient hematopoiesis. Blood. 2025;146(10):1174-1186. doi:10.1182/blood.2024028033

Iterative transcription factor screening enables rapid generation of microglia-like cells from human iPSC.

Liu S, Li L, Zhang F, et al. Iterative transcription factor screening enables rapid generation of microglia-like cells from human iPSC. Nature communications. 2025;16(1):5136. doi:10.1038/s41467-025-59596-3

The impact of genetic ancestry on survival outcomes in pediatric rhabdomyosarcoma: A report from the Children's Oncology Group.

Onwuka EA, Magyar CL, Martin-Giacalone BA, et al. The impact of genetic ancestry on survival outcomes in pediatric rhabdomyosarcoma: A report from the Children’s Oncology Group. HGG advances. 2025;6(3):100466. doi:10.1016/j.xhgg.2025.100466

Neutrophil gene downregulation is associated with postoperative organ dysfunction following pediatric cardiac surgery with cardiopulmonary bypass.

Maisat W, Sandhu S, Kim S, et al. Neutrophil gene downregulation is associated with postoperative organ dysfunction following pediatric cardiac surgery with cardiopulmonary bypass. Frontiers in cardiovascular medicine. 2025;12:1380606. doi:10.3389/fcvm.2025.1380606

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

Broeren EC, Gitau VN, Byrne AB, et al. The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships. Genetics in medicine open. 2025;3:103429. doi:10.1016/j.gimo.2025.103429

Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.

Wilcox EH, Webb RF, Tshering KC, et al. Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels. Genetics in medicine open. 2025;3:103430. doi:10.1016/j.gimo.2025.103430

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Publications

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