De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

(2014) Estelle Dubruc et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

(2014) Valter Tucci et al.   JOURNAL OF CLINICAL INVESTIGATION

Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility

(2013) B. Lang et al.   JOURNAL OF CELL SCIENCE

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability

(2012) Leigh Anne Flore et al.   Seminars in Pediatric Neurology

Congenital Hydrocephalus in Genetically Engineered Mice

(2011) P. Vogel et al.   VETERINARY PATHOLOGY

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

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

(2010) A. McKenna et al.   GENOME RESEARCH

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

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

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Crystal Structure of a Full-Length β-Catenin

(2008) Yi Xing et al.   STRUCTURE