Microsatellite Interruptions Stabilize Primate Genomes and Exist as Population-Specific Single Nucleotide Polymorphisms within Individual Human Genomes

A practical guide for the functional annotation of genetic variations using SNPnexus

(2013) A. Z. Dayem Ullah et al.   BRIEFINGS IN BIOINFORMATICS

DNA polymerase κ-dependent DNA synthesis at stalled replication forks is important for CHK1 activation

(2013) Rémy Bétous et al.   EMBO JOURNAL

Evolution of Coding Microsatellites in Primate Genomes

(2013) Etienne Loire et al.   Genome Biology and Evolution

DNA synthesis by Pol η promotes fragile site stability by preventing under-replicated DNA in mitosis

(2013) Valérie Bergoglio et al.   JOURNAL OF CELL BIOLOGY

Mature Microsatellites: Mechanisms Underlying Dinucleotide Microsatellite Mutational Biases in Human Cells

(2013) Beverly A. Baptiste et al.   G3-Genes Genomes Genetics

DNA polymerase kappa microsatellite synthesis: Two distinct mechanisms of slippage-mediated errors

(2012) Beverly A. Baptiste et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

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

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

Mechanism of Replicative DNA Polymerase Delta Pausing and a Potential Role for DNA Polymerase Kappa in Common Fragile Site Replication

(2012) Erin Walsh et al.   JOURNAL OF MOLECULAR BIOLOGY

Noncanonical Mismatch Repair as a Source of Genomic Instability in Human Cells

(2012) Javier Peña-Diaz et al.   MOLECULAR CELL

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

(2012)   NATURE

Genenames.org: the HGNC resources in 2013

(2012) Kristian A. Gray et al.   NUCLEIC ACIDS RESEARCH

SNPnexus: a web server for functional annotation of novel and publicly known genetic variants (2012 update)

(2012) A. Z. Dayem Ullah et al.   NUCLEIC ACIDS RESEARCH

The in vitro fidelity of yeast DNA polymerase δ and polymerase ɛ holoenzymes during dinucleotide microsatellite DNA synthesis

(2011) Amy L. Abdulovic et al.   DNA REPAIR

A matter of life or death: How microsatellites emerge in and vanish from the human genome

(2011) Y. D. Kelkar et al.   GENOME RESEARCH

Beyond translesion synthesis: polymerase κ fidelity as a potential determinant of microsatellite stability

(2011) Suzanne E. Hile et al.   NUCLEIC ACIDS RESEARCH

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

(2011) Zhenming Yu et al.   PLoS One

Variable Tandem Repeats Accelerate Evolution of Coding and Regulatory Sequences

(2010) Rita Gemayel et al.   Annual Review of Genetics

AGG Interruptions in (CGG)nDNA Repeat Tracts Modulate the Structure and Thermodynamics of Non-B Conformations in Vitro

(2010) Daniel A. Jarem et al.   BIOCHEMISTRY

What Is a Microsatellite: A Computational and Experimental Definition Based upon Repeat Mutational Behavior at A/T and GT/AC Repeats

(2010) Yogeshwar D. Kelkar et al.   Genome Biology and Evolution

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Repeat instability as the basis for human diseases and as a potential target for therapy

(2010) Arturo López Castel et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

Human DNA Polymerase   Is Required for Common Fragile Site Stability during Unperturbed DNA Replication

(2009) L. Rey et al.   MOLECULAR AND CELLULAR BIOLOGY

Every microsatellite is different: Intrinsic DNA features dictate mutagenesis of common microsatellites present in the human genome

(2009) Kristin A. Eckert et al.   MOLECULAR CARCINOGENESIS

Genetics in geographically structured populations: defining, estimating and interpreting FST

(2009) Kent E. Holsinger et al.   NATURE REVIEWS GENETICS

The UCSC Genome Browser database: update 2010

(2009) B. Rhead et al.   NUCLEIC ACIDS RESEARCH

Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for ‘missing heritability’

(2009) Anthony J. Hannan   TRENDS IN GENETICS

SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms

(2008) C. Chelala et al.   BIOINFORMATICS

Short Tandem Repeats in Human Exons: A Target for Disease Mutations

(2008) Bo Madsen et al.   BMC GENOMICS

Genome-wide analysis of microsatellite polymorphism in chicken circumventing the ascertainment bias

(2008) M. Brandstrom et al.   GENOME RESEARCH

Heterogeneous Nature and Distribution of Interruptions in Dinucleotides May Indicate the Existence of Biased Substitutions Underlying Microsatellite Evolution

(2008) Miguel A. Varela et al.   JOURNAL OF MOLECULAR EVOLUTION

Premutation allele pool in myotonic dystrophy type 2

(2008) L. L. Bachinski et al.   NEUROLOGY

Simple sequence repeats: genetic modulators of brain function and behavior

(2008) John W. Fondon et al.   TRENDS IN NEUROSCIENCES