Associated Papers
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits.
Scherer N et al.
Nature Genetics, 2025
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Tise CG et al.
Genetics in Medicine Open, 2025
Rare variant analyses in large-scale cohorts identified SLC13A1 associated with chronic pain.
Ao X et al.
Pain, 2023
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia.
van de Kamp JM et al.
Clinical Genetics, 2023
Rare SLC13A1 variants associate with intervertebral disc disorder highlighting role of sulfate in disc pathology.
Bjornsdottir G et al.
Nature Communications, 2022
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM4_ESM.xlsx › ST21
Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis.
Tise CG et al.
Molecular Genetics and Metabolism Reports, 2017
From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases.
Tise CG et al.
G3 (bethesda, Md.), 2016
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.
Hallengren E et al.
Plos One, 2015
26086970 (PubMed )
Supplement: pone.0128348.s002.xlsx › Sheet1
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