Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.
Ünsel-Bolat G et al.
Developmental Neurobiology, 2026
Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2 -Related Disorders to a Syndromic Multiple Tumor Phenotype.
Lucain M et al.
American Journal of Medical Genetics. Part A, 2025
Histone H3K36 methyltransferases NSD1 and SETD2 are required for brain development.
Chen B et al.
Human Genetics, 2025
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Lee S et al.
Human Molecular Genetics, 2023
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
Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.
Wilson K et al.
Human Molecular Genetics, 2023
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations.
Belanger Deloge R et al.
European Journal of Human Genetics : Ejhg, 2023
The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities.
Ritchie FD et al.
Frontiers in Neuroscience, 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
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
Best S et al.
Journal of Medical Genetics, 2022
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Genotype-phenotype correlation at codon 1740 of SETD2.
Rabin R et al.
American Journal of Medical Genetics. Part A, 2020
Epilepsy and overgrowth-intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment.
Grens K et al.
Therapeutic Advances in Rare Disease, 0