Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Biallelic MTHFD1 variants presenting as severe combined immunodeficiency.
Lee ASE et al.
Clinical Immunology (orlando, Fla.), 2023
Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.
Burda P et al.
Journal of Inherited Metabolic Disease, 2015
Human mutations in methylenetetrahydrofolate dehydrogenase 1 impair nuclear de novo thymidylate biosynthesis.
Field MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
New facets of antibody deficiencies.
Liadaki K et al.
Current Opinion in Immunology, 2013
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
Watkins D et al.
Journal of Medical Genetics, 2011
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