Most Recent Articles: BMC Medical Genomicshttps://bmcmedgenomics.biomedcentral.comMost Recent Articles: BMC Medical GenomicsPET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature reviewhttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02210-8Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare autosomal recessive disorder. Riboflavin-responsive MADD (RR-MADD) represents a treatable subtype, though its molecular mechanisms are incompletely c...Case ReportTue, 21 Oct 2025 00:00:00 GMThttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02210-8Dong-Fang Lin, Huan Sheng, Qiang Qu and Ze-Tao Liao2025-10-21T00:00:00ZExpanding the phenotype of CARS1 variants to include congenital hyperinsulinismhttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02237-xCARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails. Additional...Case ReportTue, 21 Oct 2025 00:00:00 GMThttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02237-xVictoria R. Sanders, Andrew C. Edmondson, Albert C. Yan and Diva D. De Leon2025-10-21T00:00:00ZIntractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case reporthttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02214-4Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive multisystemic disorder caused by ATM variants. It is characterized by progressive cerebellar ataxia, telangiectasia, susceptibility to malignancies...Case ReportFri, 17 Oct 2025 00:00:00 GMThttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02214-4Chunyu Gu, Qingyan Cui, Wang Luo, Shuyue Zhang, Jianbo Shu and Sen Chen2025-10-17T00:00:00ZMulti-modal characteristics of LncRNA-derived subtypes in colorectal cancerhttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02242-0The growing knowledge of long non-coding RNA (LncRNA) has suggested the role and predictive potential of LncRNA in cancer, but has not been translated into effective practical tools. The morbidity of colorecta...ResearchThu, 16 Oct 2025 00:00:00 GMThttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02242-0Minghao Xiong, Jie Li, Xue Li, Jiaojiao Zhao, Qin Liu, Mengjie Tu and Fanxin Zeng2025-10-16T00:00:00ZIntrauterine growth restriction induces persistent adipose inflammation and metabolic abnormalities in rats among various postnatal growth trajectorieshttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02221-5Intrauterine growth restriction (IUGR) with rapid postnatal catch-up growth has been associated with adipose tissue inflammation and metabolic dysfunction. The long-term persistence of these abnormalities and ...ResearchThu, 16 Oct 2025 00:00:00 GMThttps://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-025-02221-5Qian Hu, Zhenjie Zhang, Fan Yang, Zhenxin Fan, Yifei Li and Ping Li2025-10-16T00:00:00Z