Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3

Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ

(2015) Tatiana Kent et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mechanism of microhomology-mediated end-joining promoted by human DNA polymerase θ

(2015) Tatiana Kent et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A prenatal case of split-hand malformation associated with 17p13.3 triplication – A dilemma in genetic counseling

(2014) H.M. Luk et al.   European Journal of Medical Genetics

Chromosome rearrangements via template switching between diverged repeated sequences

(2014) Ranjith P. Anand et al.   GENES & DEVELOPMENT

Nascent DNA Synthesis During Homologous Recombination Is Synergistically Promoted by the Rad51 Recombinase and DNA Homology

(2014) Maureen M. Mundia et al.   GENETICS

Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae

(2014) W. Song et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Break-induced replication: functions and molecular mechanism

(2013) Anna Malkova et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations

(2013) D. J. Witherspoon et al.   GENOME RESEARCH

Recurrent HERV-H-Mediated 3q13.2-q13.31 Deletions Cause a Syndrome of Hypotonia and Motor, Language, and Cognitive Delays

(2013) Andrey Shuvarikov et al.   HUMAN MUTATION

Migrating bubble during break-induced replication drives conservative DNA synthesis

(2013) Natalie Saini et al.   NATURE

Replicative mechanisms for CNV formation are error prone

(2013) Claudia M B Carvalho et al.   NATURE GENETICS

Alu elements: an intrinsic source of human genome instability

(2013) Catherine Ade et al.   Current Opinion in Virology

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

(2013) Hannah Verdin et al.   PLoS Genetics

Chromothripsis and Human Disease: Piecing Together the Shattering Process

(2012) Christopher A. Maher et al.   CELL

Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization

(2012) Svetlana A. Yatsenko et al.   HUMAN GENETICS

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22

(2011) CMB Carvalho et al.   CLINICAL GENETICS

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

(2011) Christine M Armour et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia

(2011) Philip M Boone et al.   GENETICS IN MEDICINE

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements

(2011) Yue Luo et al.   HUMAN MOLECULAR GENETICS

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

(2011) Claudia M B Carvalho et al.   NATURE GENETICS

Structural variation of the human genome: mechanisms, assays, and role in male infertility

(2011) Claudia M.B. Carvalho et al.   Systems Biology in Reproductive Medicine

Increased RPA1 Gene Dosage Affects Genomic Stability Potentially Contributing to 17p13.3 Duplication Syndrome

(2011) Emily Outwin et al.   PLoS Genetics

Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome

(2011) Maria Clara Bonaglia et al.   PLoS Genetics

Alu elements: know the SINEs

(2011) Prescott Deininger   GENOME BIOLOGY

A Common Molecular Mechanism Underlies Two Phenotypically Distinct 17p13.1 Microdeletion Syndromes

(2010) Adam Shlien et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

(2010) Jeffrey M. Kidd et al.   CELL

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

(2010) D. L. Bruno et al.   JOURNAL OF MEDICAL GENETICS

Competitive Repair by Naturally Dispersed Repetitive DNA during Non-Allelic Homologous Recombination

(2010) Margaret L. Hoang et al.   PLoS Genetics

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

(2009) Svetlana A. Yatsenko et al.   HUMAN MOLECULAR GENETICS

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

Alu-Alurecombination underlies the vast majority of largeVHLgermline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients

(2009) Gerlind Franke et al.   HUMAN MUTATION

Microdeletions including YWHAE in the Miller-Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment

(2009) S C Sreenath Nagamani et al.   JOURNAL OF MEDICAL GENETICS

Increased LIS1 expression affects human and mouse brain development

(2009) Weimin Bi et al.   NATURE GENETICS

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

(2009) Feng Zhang et al.   NATURE GENETICS

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

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: A study of 5,380 cases

(2008) Lina Shao et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Identification of a novel human Rad51 variant that promotes DNA strand exchange

(2008) J.-Y. Park et al.   NUCLEIC ACIDS RESEARCH

L1 recombination-associated deletions generate human genomic variation

(2008) K. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Double-strand breaks associated with repetitive DNA can reshape the genome

(2008) J. L. Argueso et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings

(2008) Mitch McVey et al.   TRENDS IN GENETICS