FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21

(2010) Nathalie Pironon et al.   BMC GENOMICS

Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome

(2010) S. A. Scott et al.   HUMAN MOLECULAR GENETICS

Genomic rearrangements in inherited disease and cancer

(2010) Jian-Min Chen et al.   SEMINARS IN CANCER BIOLOGY

Centromeres Convert but Don't Cross

(2010) Paul B. Talbert et al.   PLOS BIOLOGY

Widespread Gene Conversion in Centromere Cores

(2010) Jinghua Shi et al.   PLOS BIOLOGY

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

(2009) Roberto Giorda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

(2009) Julian Lange et al.   CELL

Nearby inverted repeats fuse to generate acentric and dicentric palindromic chromosomes by a replication template exchange mechanism

(2009) K. Mizuno et al.   GENES & DEVELOPMENT

Fusion of nearby inverted repeats by a replication-based mechanism leads to formation of dicentric and acentric chromosomes that cause genome instability in budding yeast

(2009) A. L. Paek et al.   GENES & DEVELOPMENT

Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding

(2009) K. J. McKernan et al.   GENOME RESEARCH

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

(2009) Lisenka E.L.M. Vissers et al.   HUMAN MOLECULAR GENETICS

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

(2009) Claudia M.B. Carvalho et al.   HUMAN MOLECULAR GENETICS

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Mechanisms of change in gene copy number

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

A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation

(2009) P. J. Hastings et al.   PLoS Genetics

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

Multiple newly identified loci associated with prostate cancer susceptibility

(2008) Rosalind A Eeles et al.   NATURE GENETICS

Hairpin structures formed by alpha satellite DNA of human centromeres are cleaved by human topoisomerase II 

(2008) A. T. Jonstrup et al.   NUCLEIC ACIDS RESEARCH

Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) Provides Insight into the Possible Mechanism of Rearrangement

(2008) Oleg A Shchelochkov et al.   Molecular Cytogenetics