A novel mutation in EED associated with overgrowth

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

Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype

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

Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

(2013) J. Nangalia et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

(2012) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

On WD40 proteins: Propelling our knowledge of transcriptional control?

(2012) Valentina Migliori et al.   Epigenetics

Mutations in EZH2 Cause Weaver Syndrome

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

Human variation database: an open-source database template for genomic discovery

(2011) A. P. Fejes et al.   BIOINFORMATICS

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Role of the polycomb protein EED in the propagation of repressive histone marks

(2009) Raphael Margueron et al.   NATURE