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BMC Medical Genomics|November 19, 2025
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learningYuhan Xie, Gang Peng, Irina Tikhonova, et al.BMC Medical Genomics|November 11, 2025
Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsyHaruka Urabe, Takashi Nakajima, Satomi Mitsuhashi, et al.BMC Medical Genomics|January 12, 2026
Identification and validation of PANoptosis-related genes in ankylosing spondylitisZhitao Shan, Jiaxin Li, Xiaoyu Mu, et al.BMC Medical Genomics|January 6, 2026
Association between PNPLA3 rs738409 and susceptibility to etiology-specific liver cirrhosis: a systematic review and meta-analysisSirong Yang, Anqi ChengBMC Medical Genomics|November 7, 2025
Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGSYongchen Yang, Xiaolan Ren, Chaoran Xia, et al.BMC Medical Genomics|October 30, 2025
Comprehensive analysis of metabolic and molecular alterations in the blood of patients with Sjögren's syndrome based on untargeted metabolomics analysisJitao Liu, Qing Li, Xiaolin Sun, et al.BMC Medical Genomics|October 22, 2025
Expanding the phenotype of CARS1 variants to include congenital hyperinsulinismVictoria R Sanders, Andrew C Edmondson, Albert C Yan, et al.BMC Medical Genomics|October 6, 2025
Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patientsJeesun Yoo, A Young Park, Jung Min KoBMC Medical Genomics|September 18, 2021
Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 geneImad Dweikat, Othman Thaher, Abdulrahman Abosleem, et al.BMC Medical Genomics|September 21, 2021
Identification and validation of a novel immune-related signature associated with macrophages and CD8 T cell infiltration predicting overall survival for hepatocellular carcinomaJunyu Huo, Liqun Wu, Yunjin ZangPageof 276