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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|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 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|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.
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