Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia.
Diederich J et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
Boulanger C et al.
Journal of Inherited Metabolic Disease, 2022
Inter-individual gene variants associated with trabecular bone plasticity: A step forward in the personal genomics of degenerative bone disease.
Caso E et al.
Injury, 2017
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T et al.
Nature Genetics, 2017
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