Associated Papers
Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort.
Vecchio D et al.
European Journal of Medical Genetics, 2025
Case Report: De novo Variants of KMT2E Cause O'Donnell-Luria-Rodan Syndrome: Additional Cases and Literature Review.
Li Y et al.
Frontiers in Pediatrics, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM5_ESM.xlsx › Supplementary_Data_3
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH et al.
American Journal of Human Genetics, 2019
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
30564305 (PubMed )
Supplement: 13229_2018_247_MOESM5_ESM.xlsx › LGD
De novo genic mutations among a Chinese autism spectrum disorder cohort.
Wang T et al.
Nature Communications, 2016
27824329 (PubMed )
Supplement: ncomms13316-s5.xlsx › Supplementary_Data_4
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