Associated Papers
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.
Li W et al.
Gene, 2025
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
[Analysis of MTHFR gene variants in fifteen children with hyperhomocysteinemia].
Liu F et al.
Zhonghua Yi Xue Za Zhi, 2024
A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.
Liu L et al.
Qjm : Monthly Journal of the Association of Physicians, 2024
Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency.
Lu Y et al.
Bmc Medical Genomics, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Shifting landscapes of human MTHFR missense-variant effects.
Weile J et al.
American Journal of Human Genetics, 2021
34214447 (PubMed )
Supplement: mmc4.xlsx › 1000_genomes
Genetic etiologies associated with infantile hydrocephalus in a Chinese infantile cohort.
Mei HF et al.
World Journal of Pediatrics : Wjp, 2021
The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
Liu X et al.
Aging, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS et al.
Human Mutation, 2016
Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R et al.
Clinical Genetics, 2010
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