SETD2andDNMT3Ascreen in the Sotos-like syndrome French cohort

DNMT3A Mutational Status Affects the Results of Dose-Escalated Induction Therapy in Acute Myelogenous Leukemia

(2015) A. R. Sehgal et al.   CLINICAL CANCER RESEARCH

A novel mutation in EED associated with overgrowth

(2015) Ana S A Cohen et al.   JOURNAL OF HUMAN GENETICS

SETD2 loss-of-function promotes renal cancer branched evolution through replication stress and impaired DNA repair

(2015) N Kanu et al.   ONCOGENE

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

(2014) Detelina Grozeva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enforced differentiation of Dnmt3a-null bone marrow leads to failure with c-Kit mutations driving leukemic transformation

(2014) H. Celik et al.   BLOOD

Dnmt3a loss predisposes murine hematopoietic stem cells to malignant transformation

(2014) A. Mayle et al.   BLOOD

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

(2014) Alma Kuechler et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?

(2014) Eric Pasmant et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mutations inSETD2cause a novel overgrowth condition

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

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia

(2014) Liran I. Shlush et al.   NATURE

Structural insight into autoinhibition and histone H3-induced activation of DNMT3A

(2014) Xue Guo et al.   NATURE

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

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

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype

(2013) Katrina Tatton-Brown et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

(2013) EDOUARD COTTEREAU et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The role of genetics in the establishment and maintenance of the epigenome

(2013) Covadonga Huidobro et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

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

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

(2012) Dewi Astuti et al.   NATURE GENETICS

Epigenetic protein families: a new frontier for drug discovery

(2012) Cheryl H. Arrowsmith et al.   NATURE REVIEWS DRUG DISCOVERY

Understanding the language of Lys36 methylation at histone H3

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

DNMT3A mutations in acute myeloid leukemia: stability during disease evolution and clinical implications

(2011) H.-A. Hou et al.   BLOOD

Dnmt3a is essential for hematopoietic stem cell differentiation

(2011) Grant A Challen et al.   NATURE GENETICS

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Dnmt3a PWWP Domain Reads Histone 3 Lysine 36 Trimethylation and Guides DNA Methylation

(2010) Arunkumar Dhayalan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

DNMT3AMutations in Acute Myeloid Leukemia

(2010) Timothy J. Ley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Role for the nuclear receptor-binding SET domain protein 1 (NSD1) methyltransferase in coordinating lysine 36 methylation at histone 3 with RNA polymerase II function

(2010) A. K. Lucio-Eterovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural basis for recognition of H3K4 methylation status by the DNA methyltransferase 3A ATRX–DNMT3–DNMT3L domain

(2009) Junji Otani et al.   EMBO REPORTS

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

(2009) M. Berdasco et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation

(2008) S. M. Yoh et al.   GENES & DEVELOPMENT