Associated Papers
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen
A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene.
Esen TE et al.
Molecular Syndromology, 2023
A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree.
Özer L et al.
American Journal of Medical Genetics. Part A, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
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
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Hiraoka S et al.
Nature Medicine, 2007
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