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

Overgrowth syndromes — clinical and molecular aspects and tumour risk

(2019) Frédéric Brioude et al.   Nature Reviews Endocrinology

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

Further delineation of Malan syndrome

(2018) Manuela Priolo et al.   HUMAN MUTATION

Common cancer-driver mutations and their association with abnormally methylated genes in lung adenocarcinoma from never-smokers

(2018) Mathewos Tessema et al.   LUNG CANCER

Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2

(2017) Andrea B. Moffitt et al.   JOURNAL OF EXPERIMENTAL 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

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia

(2016) H Parker et al.   LEUKEMIA

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

SETD2histone modifier loss in aggressive GI stromal tumours

(2015) Kie Kyon Huang et al.   GUT

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

(2015) Katrina Tatton-Brown et al.   Oncotarget

Mutations inSETD2cause a novel overgrowth condition

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

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability

(2014) Katrina Tatton-Brown et al.   NATURE GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

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

Understanding the language of Lys36 methylation at histone H3

(2012) Eric J. Wagner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in EZH2 Cause Weaver Syndrome

(2011) William T. Gibson et al.   AMERICAN JOURNAL OF HUMAN GENETICS