Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis

Frequency and phenotypic spectrum of germline mutations inPOLEand seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas

(2015) Isabel Spier et al.   INTERNATIONAL JOURNAL OF CANCER

Low-levelAPCmutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases

(2015) Isabel Spier et al.   JOURNAL OF MEDICAL GENETICS

A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

(2015) Robbert D A Weren et al.   NATURE GENETICS

Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis

(2014) Sukanya Horpaopan et al.   INTERNATIONAL JOURNAL OF CANCER

Guidelines for investigating causality of sequence variants in human disease

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

Piezo1 integration of vascular architecture with physiological force

(2014) Jing Li et al.   NATURE

Role of MUTYH in human cancer

(2013) Filomena Mazzei et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Deep intronicAPCmutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis

(2012) Isabel Spier et al.   HUMAN MUTATION

Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma

(2012) Thomas Knösel et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Crowding induces live cell extrusion to maintain homeostatic cell numbers in epithelia

(2012) George T. Eisenhoffer et al.   NATURE

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

(2012) Claire Palles et al.   NATURE GENETICS

Loss of the Integrin-Activating Transmembrane Protein Fam38A (Piezo1) Promotes a Switch to a Reduced Integrin-Dependent Mode of Cell Migration

(2012) Brian J. McHugh et al.   PLoS One

Comprehensive Mutation Analysis in Colorectal Flat Adenomas

(2012) Quirinus J. M. Voorham et al.   PLoS One

Loss of desmocollin-2 confers a tumorigenic phenotype to colonic epithelial cells through activation of Akt/β-catenin signaling

(2011) Keli Kolegraff et al.   MOLECULAR BIOLOGY OF THE CELL

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

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genome-Wide Massively Parallel Sequencing of Formaldehyde Fixed-Paraffin Embedded (FFPE) Tumor Tissues for Copy-Number- and Mutation-Analysis

(2009) Michal R. Schweiger et al.   PLoS One

Repression of the Desmocollin 2 Gene Expression in Human Colon Cancer Cells Is Relieved by the Homeodomain Transcription Factors Cdx1 and Cdx2

(2008) S. Funakoshi et al.   MOLECULAR CANCER RESEARCH