Genotype–phenotype correlation at codon 1740 of SETD2

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

SETD2 loss sensitizes cells to PI3Kβ and AKT inhibition

(2019) Esteban A. Terzo et al.   Oncotarget

SETD2 regulates the maternal epigenome, genomic imprinting and embryonic development

(2019) Qianhua Xu et al.   NATURE GENETICS

Redefining the Etiologic Landscape of Cerebellar Malformations

(2019) Kimberly A. Aldinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

(2019) Daniel N. Weinberg et al.   NATURE

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

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

(2018) Patricia Heyn et al.   NATURE GENETICS

UniProt: a worldwide hub of protein knowledge

(2018)   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Dual Chromatin and Cytoskeletal Remodeling by SETD2

(2016) In Young Park et al.   CELL

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

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

CDD/SPARCLE: functional classification of proteins via subfamily domain architectures

(2016) Aron Marchler-Bauer et al.   NUCLEIC ACIDS RESEARCH

SETD2: an epigenetic modifier with tumor suppressor functionality

(2016) Jun Li et al.   Oncotarget

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Mutations inSETD2cause a novel overgrowth condition

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

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The Histone Mark H3K36me3 Regulates Human DNA Mismatch Repair through Its Interaction with MutSα

(2013) Feng Li et al.   CELL

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Histone methylation: a dynamic mark in health, disease and inheritance

(2012) Eric L. Greer et al.   NATURE REVIEWS GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Charting histone modifications and the functional organization of mammalian genomes

(2010) Vicky W. Zhou et al.   NATURE REVIEWS GENETICS

Histone H3 lysine 36 methyltransferase Hypb/Setd2 is required for embryonic vascular remodeling

(2010) M. Hu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Histone methyltransferase protein SETD2 interacts with p53 and selectively regulates its downstream genes

(2008) Ping Xie et al.   CELLULAR SIGNALLING