Estimation of theRNU2macrosatellite mutation rate byBRCA1mutation tracing

Genome-wide analysis of macrosatellite repeat copy number variation in worldwide populations: evidence for differences and commonalities in size distributions and size restrictions

(2013) Mireille Schaap et al.   BMC GENOMICS

Direct Visualization of the Highly Polymorphic RNU2 Locus in Proximity to the BRCA1 Gene

(2013) Chloé Tessereau et al.   PLoS One

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

(2013) Fergus J. Couch et al.   PLoS Genetics

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

(2012) Yael Laitman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Distinct Mutational Behaviors Differentiate Short Tandem Repeats from Microsatellites in the Human Genome

(2012) Guruprasad Ananda et al.   Genome Biology and Evolution

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Current analysis platforms and methods for detecting copy number variation

(2012) Wenli Li et al.   PHYSIOLOGICAL GENOMICS

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

(2011) Catarina D. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epigenetic regulation of the X-chromosomal macrosatellite repeat encoding for the cancer/testis gene CT47

(2011) Judit Balog et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Expression, tandem repeat copy number variation and stability of four macrosatellite arrays in the human genome

(2010) Deanna C Tremblay et al.   BMC GENOMICS

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

(2010) Nancy Hamel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNA Slippage Occurs at Microsatellite Loci without Minimal Threshold Length in Humans: A Comparative Genomic Approach

(2010) S. Leclercq et al.   Genome Biology and Evolution

Genome-wide characterization of centromeric satellites from multiple mammalian genomes

(2010) C. Alkan et al.   GENOME RESEARCH

The Number of Alleles at a Microsatellite Defines the Allele Frequency Spectrum and Facilitates Fast Accurate Estimation of  

(2010) R. J. Haasl et al.   MOLECULAR BIOLOGY AND EVOLUTION

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family

(2009) Roberta Cerutti et al.   Familial Cancer

Sensitive and accurate detection of copy number variants using read depth of coverage

(2009) S. Yoon et al.   GENOME RESEARCH

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

(2009) Donald F. Conrad et al.   NATURE

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations

(2009) Heather A. Bruce et al.   PSYCHIATRIC GENETICS

Analysis of the largest tandemly repeated DNA families in the human genome

(2008) Peter E Warburton et al.   BMC GENOMICS