Associated Papers
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
Higashimoto K et al.
Journal of Medical Genetics, 2024
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Imagawa E et al.
Clinical Genetics, 2023
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Choufani S et al.
American Journal of Human Genetics, 2020
32243864 (PubMed )
Supplement: mmc2.xlsx › Table_S9-Testing_Cohorts
PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.
Cyrus S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Cyrus SS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Novel SUZ12 mutations in Weaver-like syndrome.
Imagawa E et al.
Clinical Genetics, 2018
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Imagawa E et al.
Human Mutation, 2017
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