Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

(2011) Diana C Hargreaves et al.   CELL RESEARCH

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Two novel BRM insertion promoter sequence variants are associated with loss of BRM expression and lung cancer risk

(2011) G Liu et al.   ONCOGENE

Dindel: Accurate indel calls from short-read data

(2010) C. A. Albers et al.   GENOME RESEARCH

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

(2010) A. McKenna et al.   GENOME RESEARCH

A Virtual Laboratory for Medical Image Analysis

(2010) Sílvia D Olabarriaga et al.   IEEE TRANSACTIONS ON INFORMATION TECHNOLOGY IN BIOMEDICINE

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

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

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

Nicolaides-Baraitser syndrome: Delineation of the phenotype

(2009) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The SWI/SNF complex and cancer

(2009) D Reisman et al.   ONCOGENE

Manipulation of SMARCA2 and SMARCA4 transcript levels in porcine embryos differentially alters development and expression of SMARCA1, SOX2, NANOG, and EIF1

(2008) Luca Magnani et al.   REPRODUCTION