BRPF1 ‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Deficiency of the Chromatin Regulator Brpf1 Causes Abnormal Brain Development

(2015) Linya You et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

(2014) Frank J. Kaiser et al.   HUMAN MOLECULAR GENETICS

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

(2013) Elizabeth Park et al.   NEUROMOLECULAR MEDICINE

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

(2012) David A Koolen et al.   NATURE GENETICS

Perceiving the epigenetic landscape through histone readers

(2012) Catherine A Musselman et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

(2012) Miao-Xin Li et al.   NUCLEIC ACIDS RESEARCH

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The multidomain protein Brpf1 binds histones and is required for Hox gene expression and segmental identity

(2008) K. Laue et al.   DEVELOPMENT