Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

Characterization of Large Structural Genetic Mosaicism in Human Autosomes

(2015) Mitchell J. Machiela et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large multiallelic copy number variations in humans

(2015) Robert E Handsaker et al.   NATURE GENETICS

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

(2014) Liis Leitsalu et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells

(2012) Lars A. Forsberg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Diagnostic Implications of Excessive Homozygosity Detected by SNP-Based Microarrays: Consanguinity, Uniparental Disomy, and Recessive Single-Gene Mutations

(2011) Hutton M. Kearney et al.   CLINICS IN LABORATORY MEDICINE

Somatic mosaicism in healthy human tissues

(2011) Subhajyoti De   TRENDS IN GENETICS

Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome

(2010) Benjamín Rodríguez-Santiago et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

The Human Genome Puzzle — the Role of Copy Number Variation in Somatic Mosaicism

(2010) Hasmik Mkrtchyan et al.   CURRENT GENOMICS

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Early Embryonic Chromosome Instability Results in Stable Mosaic Pattern in Human Tissues

(2010) Hasmik Mkrtchyan et al.   PLoS One

Copy Number Variation in Human Health, Disease, and Evolution

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

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Uniparental disomy in cancer

(2009) Musaffe Tuna et al.   TRENDS IN MOLECULAR MEDICINE

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

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

(2008) Steven A McCarroll et al.   NATURE GENETICS

Comprehensive analysis of loss of heterozygosity events in glioblastoma using the 100K SNP mapping arrays and comparison with copy number abnormalities defined by BAC array comparative genomic hybridization

(2007) Ken C. Lo et al.   GENES CHROMOSOMES & CANCER