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 · 207 citations

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 · 71 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

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 · 68 citations · Full text

Genetics, Genetic Epidemiology, Immunology +18

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 · 48 citations · Full text

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 · 28 citations

Tumor Biology, Oncology, Increased Tumorigenicity +11