Associated Papers
Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.
Romano F et al.
Birth Defects Research, 2025
The Epigenetic Machinery and Energy Expenditure: A Network to Be Revealed.
Prada E et al.
Genes, 2025
39858651 (PubMed )
Supplement: genes-16-00104-s001.zip › genes-3365858-supplementary.pdf
The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.
Prada E et al.
Italian Journal of Pediatrics, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
37992168 (PubMed )
Supplement: sciadv.adg2263_tables_s1_to_s5.zip › adg2263_Table_S1.xlsx › Genomic_data
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.
Reynisdottir T et al.
Plos Genetics, 2022
35727845 (PubMed )
Supplement: pgen.1010278.s007.pdf
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Aleo S et al.
Frontiers in Cell and Developmental Biology, 2020
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