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.
Biorxiv : the Preprint Server for Biology, 2023
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
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome.
Yamada A et al.
Journal of Human Genetics, 2018
Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance.
Bock I et al.
Gene, 2016
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