Associated Papers
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2024
Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome.
Kawai T et al.
Genetics in Medicine Open, 2024
39669601 (PubMed )
Supplement: mmc2.xlsx › Table_S11
Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.
Agustsson VI et al.
Genetics in Medicine Open, 2024
39669635 (PubMed )
Supplement: mmc1.pdf
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan A et al.
International Journal of Molecular Sciences, 2022
35163737 (PubMed )
Supplement: ijms-23-01815-s001.zip › ijms-1541287-supplementary_materials › Supplementary_Files › Table_S1.xlsx › Sheet2
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.
Lehman N et al.
Clinical Genetics, 2017
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