Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

(2012) Ulrike Peters et al.   GASTROENTEROLOGY

Systematic Meta-Analyses and Field Synopsis of Genetic Association Studies in Colorectal Cancer

(2012) E. Theodoratou et al.   JNCI-Journal of the National Cancer Institute

Comprehensive molecular characterization of human colon and rectal cancer

(2012)   NATURE

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

(2012) Malcolm G Dunlop et al.   NATURE GENETICS

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Germline alterations in the CDH1 gene in familial gastric cancer in the Japanese population

(2011) Hidetaka Yamada et al.   CANCER SCIENCE

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)

(2011) P. Garre et al.   CLINICAL CANCER RESEARCH

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Identification and validation of highly frequent CpG island hypermethylation in colorectal adenomas and carcinomas

(2011) Bodil Øster et al.   INTERNATIONAL JOURNAL OF CANCER

Detection of APC germ line mosaicism in patients with de novo familial adenomatous polyposis: a plea for the protein truncation test

(2011) J. Necker et al.   JOURNAL OF MEDICAL GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Genomic sequencing of colorectal adenocarcinomas identifies a recurrent VTI1A-TCF7L2 fusion

(2011) Adam J Bass et al.   NATURE GENETICS

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer

(2011) Wigard P Kloosterman et al.   GENOME BIOLOGY

Identification of Copy Number Variation Hotspots in Human Populations

(2010) Wenqing Fu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MSH6 and MUTYH Deficiency Is a Frequent Event in Early-Onset Colorectal Cancer

(2010) M. D. Giraldez et al.   CLINICAL CANCER RESEARCH

Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinoma

(2010) Robert J. Clifford et al.   HEPATOLOGY

Association of Telomere Length of Peripheral Blood Leukocytes With Hematopoietic Relapse, Malignant Transformation, and Survival in Severe Aplastic Anemia

(2010) Phillip Scheinberg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Analysis of EPCAM Protein Expression in Diagnostics of Lynch Syndrome

(2010) Matthias Kloor et al.   JOURNAL OF CLINICAL ONCOLOGY

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

(2010) Richard S Houlston et al.   NATURE GENETICS

Microsatellite instability in colorectal cancer—the stable evidence

(2010) Eduardo Vilar et al.   Nature Reviews Clinical Oncology

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Copy Number Variation in Human Health, Disease, and Evolution

(2009) Feng Zhang et al.   Annual Review of Genomics and Human Genetics

Human copy number polymorphic genes

(2009) J.A. Bailey et al.   CYTOGENETIC AND GENOME RESEARCH

High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications

(2009) T. H. Shaikh et al.   GENOME RESEARCH

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Large, rare chromosomal deletions associated with severe early-onset obesity

(2009) Elena G. Bochukova et al.   NATURE

Copy number variation at 1q21.1 associated with neuroblastoma

(2009) Sharon J. Diskin et al.   NATURE

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling

(2009) Sari Tuupanen et al.   NATURE GENETICS

Molecular Basis of Colorectal Cancer

(2009) Sanford D. Markowitz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole Genome Distribution and Ethnic Differentiation of Copy Number Variation in Caucasian and Asian Populations

(2009) Jian Li et al.   PLoS One

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

(2008)   NATURE GENETICS

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21

(2008) Albert Tenesa et al.   NATURE GENETICS

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

(2008) Ian PM Tomlinson et al.   NATURE GENETICS

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

(2008) Joshua M Korn et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome

(2008) A. Shlien et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Contamination of Examination Gloves in patient Rooms and Implications for Transmission of Antimicrobial-Resistant Microorganisms

(2007) Maureen H. Diaz et al.   INFECTION CONTROL AND HOSPITAL EPIDEMIOLOGY