Natascia Anastasio

Spectrum of mutations in<i>MMACHC</i>, allelic expression, and evidence for genotypeâphenotype correlations

Jordan Lerner‐Ellis, Natascia Anastasio, Junhui Liu et al. · Human Mutation · 2009 · 214 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Natascia Anastasio, Tawfeg Ben‐Omran, Ahmad S. Teebi et al. · The American Journal of Human Genetics · 2010 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12

Edward V. Quadros, Shao-Chiang Lai, Yasumi Nakayama et al. · Human Mutation · 2010 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the <i>ACSF3</i> gene in patients with a non-classic phenotype

Ahmed Alfares, Laura Dempsey Nunez, Khalid Al‐Thihli et al. · Journal of Medical Genetics · 2011 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence

Amanda D. Loewy, Kirsten M. Niles, Natascia Anastasio et al. · Molecular Genetics and Metabolism · 2009 · 30 citations

Medicine, Genetics, Molecular Genetics +16