Associated Papers
CATSHL syndrome, a new family and phenotypic expansion.
Cannova S et al.
Clinical Genetics, 2024
Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.
Antunes LN et al.
Frontiers in Genetics, 2024
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
Current and emerging therapies for Achondroplasia: The dawn of precision medicine.
Dardenne E et al.
Bioorganic & Medicinal Chemistry, 2023
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
An RNA aptamer restores defective bone growth in FGFR3-related skeletal dysplasia in mice.
Kimura T et al.
Science Translational Medicine, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017
Fibroblast growth factor signaling in skeletal development and disease.
Ornitz DM et al.
Genes & Development, 2015
A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.
Makrythanasis P et al.
Human Mutation, 2014
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