Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Involvement of kinesins in skeletal dysplasia: a review.
Bouchenafa R et al.
American Journal of Physiology. Cell Physiology, 2024
Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.
Dubail J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man.
Beke A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2023
Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation.
Thompson AF et al.
Elife, 2022
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.
Boyden ED et al.
American Journal of Human Genetics, 2011
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