Associated Papers
Genotype-phenotype correlations in 9q34.3 microdeletion syndrome: a study of 35 Mainland Chinese patients.
Yang T et al.
Orphanet Journal of Rare Diseases, 2025
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Rots D et al.
American Journal of Human Genetics, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
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
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.
Jackson A et al.
Archives of Disease in Childhood, 2020
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