Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications.
Nishi E et al.
American Journal of Medical Genetics. Part A, 2024
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
Episignature analysis of moderate effects and mosaics.
Oexle K et al.
European Journal of Human Genetics : Ejhg, 2023
37365401 (PubMed )
Supplement: 41431_2023_1406_MOESM5_ESM.xlsx › KMT2D
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