Associated Papers
Identification of novel disease-causing variants and their influence on clinical presentation in dihydrofolate reductase deficiency.
Wang D et al.
Neuroscience, 2025
Systematic characterization of indel variants using a yeast-based protein folding sensor.
Larsen-Ledet S et al.
Structure (london, England : 1993), 2025
Precision diagnosis and treatment of vitamin metabolism-related epilepsy.
Gan Y et al.
Acta Epileptologica, 2024
The hidden (degron) truth behind the degradation of DHFR disease-associated variants.
Koren I
Structure (london, England : 1993), 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Genetic defects in folate and cobalamin pathways affecting the brain.
Kirsch SH et al.
Clinical Chemistry and Laboratory Medicine, 2013
Genetic and epigenomic footprints of folate.
Salbaum JM et al.
Progress in Molecular Biology and Translational Science, 2012
Dihydrofolate reductase mutations-associated megaloblastic anemia and cerebral folate deficiency.
Wijesekara N
Clinical Genetics, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Banka S et al.
American Journal of Human Genetics, 2011
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