KMT2E

Publications

Abreu NJ et al. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction. Clin Case Rep 2022;10(2): e05277. PMID: 35169466.

Cao Z et al. Case Report: A Novel KMT2E Splice Site Variant as a Cause of O'Donnell-Luria-Rodan Syndrome in a Male Patient. Front Pediatr 2022;10: 822096. PMID: 35273928.

Chater-Diehl E et al. Anatomy of DNA methylation signatures: Emerging insights and applications. Am J Hum Genet. 2021;108(8):1359-1366. doi: 10.1016/j.ajhg.2021.06.015. Epub 2021 Jul 22. PMID: 34297908.

Conforti R et al. ODLURO syndrome: personal experience and review of the literature. La radiologia medica. 2021;126: 316-322. PMID: 32691224.

Fagerberg L et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Mol cell proteomics. 2014;13(2): 397-406. PMID: 24309898.

Kosma K et al. 239-kb Microdeletion Spanning KMT2E in a Child with Developmental Delay: Further Delineation of the Phenotype. Mol Syndromol. 2021;12(5):321-326. PMID: 34602960.

Li Y et al. Case Report: De novo variants of KMT2E cause O'Donnell-Luria-Rodan syndrome: Additional cases and literature review. Front Pediatr. 2021; 9: 641841. PMID: 33681112.

O’Donnell-Luria A H et al. Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy. Am J Hum Genet. 2019;104(6):1210-1222. PMID: 31079897.

Rahbari R et al. Timing, rates and spectra of human germline mutation. Nat genet. 2016;48(2):126-133. PMID: 26656846.

Sharawat K et al. Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature. Neuropediatrics. 2021;52(2): 098-104. PMID: 33111303.

Velmans C et al. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. J Med Genet. 2022;59(7): 697-705. PMID: 34321323.