Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
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
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.
Marín-Quílez A et al.
Blood, 2023
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.
Succoio M et al.
Biomolecules, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU et al.
Cell Biochemistry and Biophysics, 2021
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA et al.
Molecular Syndromology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Galactose Epimerase Deficiency: Expanding the Phenotype.
Dias Costa F et al.
Jimd Reports, 2017
Developmental defects in a Caenorhabditis elegans model for type III galactosemia.
Brokate-Llanos AM et al.
Genetics, 2014
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ et al.
Gene, 2013
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
McCorvie TJ et al.
Biochimica Et Biophysica Acta, 2012
In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.
McCorvie TJ et al.
Biochimie, 2011
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK et al.
American Journal of Human Genetics, 2006
Functional analysis of disease-causing mutations in human UDP-galactose 4-epimerase.
Timson DJ
The Febs Journal, 2005
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
Wasilenko J et al.
Molecular Genetics and Metabolism, 2005
A PCR-based method for detecting known mutations in the human UDP galactose-4'-epimerase gene associated with epimerase-deficiency galactosemia.
Henderson JM et al.
Clinical Genetics, 2001
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Wohlers TM et al.
American Journal of Human Genetics, 1999
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park HD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0