Roy A. Gravel

A Common Variant in Methionine Synthase Reductase Combined with Low Cobalamin (Vitamin B12) Increases Risk for Spina Bifida

Aaron Wilson, Robert W. Platt, Qing Wu et al. · Molecular Genetics and Metabolism · 1999 · 440 citations

Life Sciences, Biochemistry, Genetics +17

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

Jordan Lerner‐Ellis, Jamie C. Tirone, Peter D. Pawelek et al. · Nature Genetics · 2005 · 376 citations

Life Sciences, Genetics, Molecular Genetics +7

Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects

Benedicte Christensen, Laura Arbour, Pamela V. Tran et al. · American Journal of Medical Genetics · 1999 · 294 citations

Life Sciences, Genetics, Molecular Genetics +14

Mutation in Folate Metabolism Causes Epigenetic Instability and Transgenerational Effects on Development

Nisha Padmanabhan, Dongxin Jia, Colleen Geary-Joo et al. · Cell · 2013 · 247 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis

Alexey V. Pshezhetsky, Catherine Richard, Lorraine Michaud et al. · Nature Genetics · 1997 · 217 citations

Life Sciences, Genetics, Molecular Biology +11