Associated Papers
Skeletal ciliopathy variants of the dynein-2 DYNC2LI1 subunit impair osteogenic differentiation of mesenchymal stem cells.
Ishida Y et al.
Journal of Cell Science, 2025
Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects.
Qiu H et al.
Scientific Reports, 2022
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Zhang X et al.
Prenatal Diagnosis, 2021
Whole-exome sequencing identified two novel mutations of DYNC2LI1 in fetal skeletal ciliopathy.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2020
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