Associated Papers
Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.
Ünsel-Bolat G et al.
Developmental Neurobiology, 2026
Cellular and molecular functions of SETD2 in the central nervous system.
Mitchell B et al.
Journal of Cell Science, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A et al.
Genes, 2023
Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review.
Zhang Y et al.
Frontiers in Genetics, 2023
A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.
Wu Y et al.
Frontiers in Genetics, 2023
Inferring the Effects of Protein Variants on Protein-Protein Interactions with Interpretable Transformer Representations.
Liu Z et al.
Research (washington, D.c.), 2023
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
Velasco G et al.
International Journal of Molecular Sciences, 2021
33916664 (PubMed )
Supplement: ijms-22-03735-s001.zip › Velasco_Supplementary_Figures_S1_to_S11_R1.pdf
Abnormal neocortex arealization and Sotos-like syndrome-associated behavior in Setd2 mutant mice.
Xu L et al.
Science Advances, 2021
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
Marzin P et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Brief Report: SETD2 Mutation in a Child with Autism, Intellectual Disabilities and Epilepsy.
Lumish HS et al.
Journal of Autism and Developmental Disorders, 2015
Mutations in SETD2 cause a novel overgrowth condition.
Luscan A et al.
Journal of Medical Genetics, 2014
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