A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

(2023) Cybel Mehawej et al.   Molecular Syndromology

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: a prospective study

(2022) Yu Sun et al.   HUMAN MUTATION

Neuroimaging Findings in Neurodevelopmental Copy Number Variants: Identifying Molecular Pathways to Convergent Phenotypes

(2022) Ana I. Silva et al.   BIOLOGICAL PSYCHIATRY

SETD2: from chromatin modifier to multipronged regulator of the genome and beyond

(2022) Thom M. Molenaar et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The role of histone H3K36me3 writers, readers and erasers in maintaining genome stability

(2022) Asmita Sharda et al.   DNA REPAIR

Abnormal neocortex arealization and Sotos-like syndrome–associated behavior in Setd2 mutant mice

(2021) Lichao Xu et al.   Science Advances

Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India

(2021) Amita Moirangthem et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multi-level regulation of β-catenin activity by SETD2 suppresses the transition from polycystic kidney disease to clear cell renal cell carcinoma

(2021) Hanyu Rao et al.   CANCER RESEARCH

Mutation pattern and genotype-phenotype correlations of SETD2 in neurodevelopmental disorders

(2021) Meilin Chen et al.   European Journal of Medical Genetics

Tubulin methylation of lysine 40 by SETD2: a new way to tune neuronal functions?

(2021) Annie Andrieux et al.   BRAIN

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

(2021) Farid Ullah et al.   HUMAN GENETICS

Structural basis of the interaction between SETD2 methyltransferase and hnRNP L paralogs for governing co-transcriptional splicing

(2021) Saikat Bhattacharya et al.   Nature Communications

Genotype–phenotype correlation at codon 1740 of SETD2

(2020) Rachel Rabin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

(2019) Ching-wan Lam et al.   CLINICA CHIMICA ACTA

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature

(2019) Pauline Marzin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

(2018) Víctor Faundes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two novel cases expanding the phenotype of SETD2 -related overgrowth syndrome

(2018) Maartje C. van Rij et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

(2017) Amy B. Wilfert et al.   Genome Medicine

Structure/Function Analysis of Recurrent Mutations in SETD2 Protein Reveals a Critical and Conserved Role for a SET Domain Residue in Maintaining Protein Stability and Histone H3 Lys-36 Trimethylation

(2016) Kathryn E. Hacker et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort

(2016) Camille Tlemsani et al.   JOURNAL OF MEDICAL GENETICS

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Mutations inSETD2cause a novel overgrowth condition

(2014) Armelle Luscan et al.   JOURNAL OF MEDICAL GENETICS

Autoinhibitory Structure of the WW Domain of HYPB/SETD2 Regulates Its Interaction with the Proline-Rich Region of Huntingtin

(2014) Yong-Guang Gao et al.   STRUCTURE

Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia

(2014) Brenton G. Mar et al.   Nature Communications

Histone Methyltransferase Gene SETD2 Is a Novel Tumor Suppressor Gene in Clear Cell Renal Cell Carcinoma

(2010) Gerben Duns et al.   CANCER RESEARCH