Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

Characterization of functional domains of the cblD (MMADHC) gene product

(2014) Jehona Jusufi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Quantitative flux analysis reveals folate-dependent NADPH production

(2014) Jing Fan et al.   NATURE

Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1

(2013) M. D. Keller et al.   PEDIATRICS

Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice

(2012) J. Momb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

(2011) David Watkins et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

(2011) D. Watkins et al.   JOURNAL OF MEDICAL GENETICS

Compartmentalization of Mammalian Folate-Mediated One-Carbon Metabolism

(2010) Anne S. Tibbetts et al.   Annual Review of Nutrition

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

(2009) Gary M Shaw et al.   BMC Medical Genetics

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

(2008) Karen E. Christensen et al.   HUMAN MUTATION

Mthfd1Is an Essential Gene in Mice and Alters Biomarkers of Impaired One-carbon Metabolism

(2008) Amanda J. MacFarlane et al.   JOURNAL OF BIOLOGICAL CHEMISTRY