Associated Papers
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 2025
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
Fecarotta S et al.
Orphanet Journal of Rare Diseases, 2025
O-glycosylation is essential for cell surface expression of the transcobalamin receptor CD320.
Du C et al.
The Journal of Biological Chemistry, 2024
Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
McCaddon A et al.
Clinical Nutrition Espen, 2023
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y et al.
Diagnostics (basel, Switzerland), 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening.
Pappas KB et al.
American Journal of Medical Genetics. Part A, 2022
Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.
Pangilinan F et al.
American Journal of Medical Genetics. Part A, 2022
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations.
Held PK et al.
International Journal of Neonatal Screening, 2022
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
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S et al.
Orphanet Journal of Rare Diseases, 2018
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.
Hannah-Shmouni F et al.
American Journal of Medical Genetics. Part A, 2018
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.
Velkova A et al.
Human Molecular Genetics, 2017
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
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.
Karth P et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012
Bioinformatic and genetic association analysis of microRNA target sites in one-carbon metabolism genes.
Stone N et al.
Plos One, 2011
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