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

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

SETD2 mutations confer chemoresistance in acute myeloid leukemia partly through altered cell cycle checkpoints

(2019) Yunzhu Dong et al.   LEUKEMIA

The cancer driver genes IDH1/2, JARID1C/ KDM5C, and UTX/ KDM6A: crosstalk between histone demethylation and hypoxic reprogramming in cancer metabolism

(2019) Soojeong Chang et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

The histone methyltransferase Setd2 is indispensable for V(D)J recombination

(2019) Zhongzhong Ji et al.   Nature Communications

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

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

Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model

(2018) Hui Guo et al.   Molecular Autism

SETD2 mutations in primary central nervous system tumors

(2018) Angela N. Viaene et al.   Acta Neuropathologica Communications

SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort

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

Massively parallel sequencing of phyllodes tumours of the breast reveals actionable mutations, andTERTpromoter hotspot mutations andTERTgene amplification as likely drivers of progression

(2016) Salvatore Piscuoglio et al.   JOURNAL OF PATHOLOGY

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

(2016) Monkol Lek et al.   NATURE

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

Quantification of Histone Modifications by Parallel-Reaction Monitoring: A Method Validation

(2015) James L. Sowers et al.   ANALYTICAL CHEMISTRY

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

Loss of histone H3 lysine 36 trimethylation is associated with an increased risk of renal cell carcinoma-specific death

(2015) Thai H Ho et al.   MODERN PATHOLOGY

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

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

MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing

(2014) Evan A. Boyle et al.   BIOINFORMATICS

Mutations inSETD2cause a novel overgrowth condition

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

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

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

SETD2 is required for DNA double-strand break repair and activation of the p53-mediated checkpoint

(2014) Sílvia Carvalho et al.   eLife

Comprehensive molecular characterization of clear cell renal cell carcinoma

(2013)   NATURE

Histone methyltransferase SETD2 coordinates FACT recruitment with nucleosome dynamics during transcription

(2013) Sílvia Carvalho et al.   NUCLEIC ACIDS RESEARCH

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols