Associated Papers
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D et al.
American Journal of Human Genetics, 2024
Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
Bouman A et al.
American Journal of Medical Genetics. Part A, 2024
38155610 (PubMed )
Supplement: EMS194816-supplement-Supplementary_File_3.xlsx › Inclusions_and_genetic_variants
A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1.
Chi YI et al.
Computational and Structural Biotechnology Journal, 2023
37954151 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Characterization of intellectual disability and autism comorbidity through gene panel sequencing.
Aspromonte MC et al.
Human Mutation, 2019
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