Associated Papers
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
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Krane M et al.
Circulation, 2021
34694888 (PubMed )
Supplement: cir-144-1409-s001.xlsx › 1B_WES_results_Munich_cohort
Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.
Westphal DS et al.
Clinical Genetics, 2019
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D et al.
Human Molecular Genetics, 2018
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