Associated Papers
Genome and RNA sequencing in patients with methylmalonic aciduria of unknown cause.
Abdrabo LS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A rare coding allele in IFIH1 is protective for psoriatic arthritis.
Budu-Aggrey A et al.
Annals of the Rheumatic Diseases, 2017
28501801 (PubMed )
Supplement: annrheumdis-2016-210592supp001.pdf
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.
Chu J et al.
Molecular Genetics and Metabolism, 2016
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.
Pupavac M et al.
Molecular Genetics and Metabolism, 2016
Association of Transcobalamin II (TCN2) and Transcobalamin II-Receptor (TCblR) Genetic Variations With Cobalamin Deficiency Parameters in Elderly Women.
Kurnat-Thoma EL et al.
Biological Research for Nursing, 2015
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.
Grarup N et al.
Plos Genetics, 2013
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.
Pangilinan F et al.
Bmc Medical Genetics, 2012
Folate and vitamin B12-related genes and risk for omphalocele.
Mills JL et al.
Human Genetics, 2012
Transcobalamin II receptor polymorphisms are associated with increased risk for neural tube defects.
Pangilinan F et al.
Journal of Medical Genetics, 2010
Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Quadros EV et al.
Human Mutation, 2010
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