Month: <span>June 2024</span>
Month: June 2024

Diagnosis of a Single-Nucleotide Variant in Whole-Exome Sequencing Data for Patients With Inherited Diseases: Machine Learning Study Using Artificial Intelligence Variant Prioritization

JMIR Bioinform Biotechnol. 2022 Sep 15;3(1):e37701. doi: 10.2196/37701. ABSTRACT BACKGROUND: In recent years, thanks to the rapid development of next-generation sequencing (NGS) technology, an entire …

Features and global impact of invasive fungal infections caused by Pneumocystis jirovecii: A systematic review to inform the World Health Organization fungal priority pathogens list

Med Mycol. 2024 Jun 27;62(6):myae038. doi: 10.1093/mmy/myae038. ABSTRACT This systematic review evaluates the current global impact of invasive infections caused by Pneumocystis jirovecii (principally pneumonia: …

Keratin-Positive Giant Cell Tumor of Bone and Soft Tissue With HMGA2::NCOR2 Fusion in Children Under 10 With Response to Imatinib Therapy: A Case Series

JCO Precis Oncol. 2024 Jun;8:e2300659. doi: 10.1200/PO.23.00659. ABSTRACT HMGA2::NCOR2 keratin-positive giant cell tumors in children with response to imatinib in an infant. PMID:38935896 | DOI:10.1200/PO.23.00659

Phase II Study of Ulixertinib in Children and Young Adults With Tumors Harboring Activating Mitogen-Activated Protein Kinase Pathway Alterations: APEC1621J of the National Cancer Institute-Children’s Oncology Group Pediatric MATCH Trial

JCO Precis Oncol. 2024 Jun;8:e2400103. doi: 10.1200/PO.24.00103. ABSTRACT PURPOSE: The National Cancer Institute-Children’s Oncology Group (NCI-COG) Pediatric MATCH trial assigns patients age 1-21 years with …