Associated Papers
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Stark JC et al.
Genome Medicine, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Novel TONSL variants cause SPONASTRIME dysplasia and associate with spontaneous chromosome breaks, defective cell proliferation and apoptosis.
Micale L et al.
Human Molecular Genetics, 2020
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC et al.
American Journal of Human Genetics, 2019
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Chang HR et al.
American Journal of Human Genetics, 2019
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