Biallelic GALM pathogenic variants cause a novel type of galactosemia

Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)

(2017) Marzia Pasquali et al.   GENETICS IN MEDICINE

The molecular basis of galactosemia — Past, present and future

(2016) David J. Timson   GENE

Human genetic variation database, a reference database of genetic variations in the Japanese population

(2016) Koichiro Higasa et al.   JOURNAL OF HUMAN GENETICS

Large-Scale East-Asian eQTL Mapping Reveals Novel Candidate Genes for LD Mapping and the Genomic Landscape of Transcriptional Effects of Sequence Variants

(2014) Maiko Narahara et al.   PLoS One

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

(2011) Julia B. Hennermann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A non-synonymous polymorphism in galactose mutarotase (GALM) is associated with serotonin transporter binding potential in the human thalamus: results of a genome-wide association study

(2011) X Liu et al.   MOLECULAR PSYCHIATRY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Galactose transporters discriminate steric anomers at the cell surface in yeast

(2009) Toshio Fukasawa et al.   FEMS YEAST RESEARCH