Associated Papers
Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.
Glazer AM et al.
Nature Reviews. Cardiology, 2026
Population frequencies of thiopurine-related pharmacogenes in healthy individuals from Kosovo.
Pasha F et al.
Human Genome Variation, 2026
The rs3024839 and rs2227483 polymorphisms with immune pathomechanism offers a starting point for diagnosis and susceptibility testing of myocardial infarction.
Khosravi Nezhad Z et al.
Scientific Reports, 2026
The Contribution of Genetic Modifiers to Ovarian Cancer Risk in BRCA1 and BRCA2 Pathogenic Variant Carriers.
Cylwik D et al.
Cancers, 2026
Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.
Li YX et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026
Assessment of Blood-Count-Derived Biomarkers, Homocysteine Levels, MTHFR Mutation, and Clinical Manifestations in Severe Peripheral Artery Disease.
Akácsos-Szász OZ et al.
Biomedicines, 2026
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY project.
Mania-Pâris L et al.
Stroke, 2026
Clinical Implementation of Pharmacogenomics and Drug-Drug Interaction Screening in a German Academic Teaching Hospital and Outpatient Follow-Up.
Tremmel R et al.
Clinical Pharmacology and Therapeutics, 2026
Pharmacogenetic insights into MTHFR and SLC19A1 variants in low-dose methotrexate therapy for rheumatologic diseases.
Martínez Téllez G et al.
Drug Metabolism and Personalized Therapy, 2025
Genetic polymorphisms in folate metabolism and their association with recurrent spontaneous abortion.
Wu AN et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2025
Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.
Twesigomwe D et al.
Scientific Reports, 2025
Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable?
He Y et al.
Multidisciplinary Respiratory Medicine, 2025
Genetic Polymorphism of MDM2 Gene Associates with Breast Cancer Incidence in the Lower Northern Thailand.
Srikummool M et al.
Asian Pacific Journal of Cancer Prevention : Apjcp, 2025
Methylenetetrahydrofolate reductase (MTHFR) 677C>T rs1801133 genetic variant, homocysteine, folate, and vitamin B12 levels in patients with multiple sclerosis: a scoping review.
Ribeiro CM et al.
Multiple Sclerosis and Related Disorders, 2025
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
Association of folate metabolism gene polymorphisms with autism susceptibility and symptom severity in the Chinese population.
Zhang CY et al.
World Journal of Psychiatry, 2025
Newborn MTHFR rs1801133 Variant and Extremely Low Birth Weight: A Case-Control Study and Meta-Analysis.
Skulimowski B et al.
Genes, 2025
acmgscaler: an R package and Colab for standardized gene-level variant effect score calibration within the ACMG/AMP framework.
Badonyi M et al.
Bioinformatics (oxford, England), 2025
Influence of methylenetetrahydrofolate 677C > T variant in murine models following valproic acid exposure.
Yang M et al.
Reproductive Toxicology (elmsford, N.y.), 2025
Unraveling folate deficiency: prevalence, biochemical associations, genetic determinants, and strategies for adolescent health in North India.
M Nair J et al.
European Journal of Clinical Nutrition, 2025
Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.
Miao Y et al.
Molecular Genetics & Genomic Medicine, 2025
Estimating genetic load from 5000 Chinese exomes.
Du X et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Protein S Gene Mutation: Potential Mechanism of Cerebral Venous Sinus Thrombosis in Patients With Dural Arteriovenous Fistula.
Song Z et al.
Neurosurgery, 2025
Low Dietary Folate Increases Developmental Delays in the Litters of Mthfr677TT Mice.
Christensen KE et al.
Nutrients, 2025
Retinal vascular dysfunction in the Mthfr677C>T mouse model of cerebrovascular disease.
Reagan AM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
<em>MTHFR</em> Gene Polymorphisms (rs1801133 and rs1801131) and Their Association with Type 2 Diabetes Mellitus and Diabetic Foot Ulcers: A Study from Karachi, Pakistan.
Abro SUA et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2025
Association between C677T variant of methylene tetrahydrofolate reductase and hypospadias risk in Algeria.
Laouar R et al.
The Turkish Journal of Pediatrics, 2025
Psychotic Disorder Secondary to Cerebral Venous Thrombosis Caused by Primary Thrombophilia in a Pediatric Patient with Protein S Deficiency and an MTHFR p.Ala222Val Variant: A Case Report.
Martínez-Pascual D et al.
Hematology Reports, 2025
Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.
Sunoki K et al.
Scientific Reports, 2025
To Study the Correlation of Methylenetetrahydrofolate Reductase C677T and MTR (A2756G) Gene Polymorphism in Endometriosis in Women of Reproductive Age Group.
Singh S et al.
Annals of African Medicine, 2025
Unraveling the Genetic Landscape of Langerhans Cell Histiocytosis in Korean Patients: Comprehensive Insights from Mutational Profiles and Clinical Correlations.
Koh KN et al.
Cancer Research and Treatment, 2025
Genetic profiling of synchronous pituitary corticotroph adenomas.
Zhang D et al.
Pituitary, 2025
Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity.
Heng TH et al.
American Journal of Human Genetics, 2025
The association between MTHFR polymorphism, dietary methyl donors, and childhood asthma and atopy.
Choi YJ et al.
Asian Pacific Journal of Allergy and Immunology, 2025
Pharmacogenetic Profiling of Genes Associated with Outcomes of Chemotherapy in Omani Healthy Controls.
Al-Mahrouqi N et al.
Genes, 2025
Simulating metabolic pathways to enhance interpretations of metabolome genome-wide association studies.
Kodate S et al.
Scientific Reports, 2025
Safety and Efficacy of High-Dose Folinic Acid in Children with Autism: The Impact of Folate Metabolism Gene Polymorphisms.
Zhang C et al.
Nutrients, 2025
The contribution of de novo coding mutations to meningomyelocele.
Ha YJ et al.
Nature, 2025
Contribution of Methylenetetrahydrofolate Reductase Genotypes to Brain Tumor Risk Determination in Taiwan.
Chen CH et al.
Anticancer Research, 2025
Variant effect predictor correlation with functional assays is reflective of clinical classification performance.
Livesey BJ et al.
Genome Biology, 2025
MTHFR Gene Polymorphisms: A Single Gene with Wide-Ranging Clinical Implications-A Review.
Araszkiewicz AF et al.
Genes, 2025
Prevalence of MTHFR C677T polymorphism and its association with serum homocysteine and blood pressure among different ethnic groups: insights from a cohort study of Nepal.
Bhatt RD et al.
Bmc Cardiovascular Disorders, 2025
The Role of Folic Acid in DNA Methylation and Breast Cancer.
de la Torre Guzmán SR et al.
International Journal for Vitamin and Nutrition Research. Internationale Zeitschrift Fur Vitamin- Und Ernahrungsforschung. Journal International De Vitaminologie Et De Nutrition, 2025
Genetic variants and breast carcinoma susceptibility: Unveiling the role of MTHFR (rs1801131, rs1801133) and TP53 (rs1042522).
Nouh WE et al.
Gene, 2025
Association of MTHFR C677T and A1298C variants with preeclampsia risk and angiogenic imbalance in Tunisian women.
Zitouni H et al.
Pregnancy Hypertension, 2025
The impact of MTHFR and VDR polymorphisms on endometriosis susceptibility: Insights from a systematic review and meta-analysis.
Zhang R et al.
Journal of Reproductive Immunology, 2025
High penetrance and phenotypic landscape of methylenetetrahydrofolate reductase c.665 C>T polymorphism in the absence of folate fortification.
Kadali S et al.
Clinical Nutrition Espen, 2025