Structural variation mutagenesis of the human genome: Impact on disease and evolution

Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements

(2015) Claudia M.B. Carvalho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessing structural variation in a personal genome—towards a human reference diploid genome

(2015) Adam C English et al.   BMC GENOMICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

(2015) Christine R. Beck et al.   PLoS Genetics

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

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

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

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

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

(2014) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

(2014) Claudia M.B. Carvalho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

(2014) Seema R. Lalani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations inIL7Rdetected by tandem whole exome sequencing and chromosomal microarray

(2014) D. K. Bayer et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases

(2014) Justin Pham et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation

(2014) Giampaolo Trivellin et al.   NEW ENGLAND JOURNAL OF MEDICINE

Passage Number is a Major Contributor to Genomic Structural Variations in Mouse iPSCs

(2014) Pengfei Liu et al.   STEM CELLS

Break-Induced Replication Is a Source of Mutation Clusters Underlying Kataegis

(2014) Cynthia J. Sakofsky et al.   Cell Reports

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy

(2014) Christina DiVincenzo et al.   Molecular Genetics & Genomic Medicine

Break-induced replication: functions and molecular mechanism

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

Copy number variants are produced in response to low-dose ionizing radiation in cultured cells

(2013) Martin F. Arlt et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

Pif1 helicase and Polδ promote recombination-coupled DNA synthesis via bubble migration

(2013) Marenda A. Wilson et al.   NATURE

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

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Multiple Pathways Suppress Non-Allelic Homologous Recombination during Meiosis in Saccharomyces cerevisiae

(2013) Miki Shinohara et al.   PLoS One

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution

(2012) Laura J. Dumas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior

(2012) Detlef H. Heck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Chromothripsis and Human Disease: Piecing Together the Shattering Process

(2012) Christopher A. Maher et al.   CELL

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Mechanisms for recurrent and complex human genomic rearrangements

(2012) Pengfei Liu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Duplications, deletions and single-nucleotide variations: the complexity of genetic arithmetic

(2012) Vincent M. Riccardi et al.   GENETICS IN MEDICINE

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

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits

(2012) Melanie Lacaria et al.   HUMAN MOLECULAR GENETICS

Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis

(2012) Piotr Dittwald et al.   HUMAN MUTATION

Harnessing genomics to identify environmental determinants of heritable disease

(2012) Carole Lyn Yauk et al.   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

DNA breaks and chromosome pulverization from errors in mitosis

(2012) Karen Crasta et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Chromoanagenesis and cancer: mechanisms and consequences of localized, complex chromosomal rearrangements

(2012) Andrew J Holland et al.   NATURE MEDICINE

A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men

(2012) Melanie Lacaria et al.   PLoS Genetics

De Novo CNV Formation in Mouse Embryonic Stem Cells Occurs in the Absence of Xrcc4-Dependent Nonhomologous End Joining

(2012) Martin F. Arlt et al.   PLoS Genetics

Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over

(2011) Pengfei Liu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Genome Sequencing in Health and Disease

(2011) Claudia Gonzaga-Jauregui et al.   Annual Review of Medicine

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

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

(2011) Z. Ou et al.   GENOME RESEARCH

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

(2011) Pengfei Liu et al.   HUMAN MOLECULAR GENETICS

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

(2011) Sébastien Jacquemont et al.   NATURE

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

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

Hydroxyurea induces de novo copy number variants in human cells

(2011) M. F. Arlt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DNA Synthesis Generates Terminal Duplications That Seal End-to-End Chromosome Fusions

(2011) M. R. Lowden et al.   SCIENCE

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

(2010) Feng Zhang 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

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

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

Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2)

(2010) Diane E. Treadwell-Deering et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Complete Khoisan and Bantu genomes from southern Africa

(2010) Stephan C. Schuster et al.   NATURE

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

(2010) Donald F Conrad et al.   NATURE GENETICS

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

(2010) Ingrid L Berg et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic disorders: A window into human gene and genome evolution

(2010) C. M. B. Carvalho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants

(2009) Martin F. Arlt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

(2009) M. Shinawi et al.   JOURNAL OF MEDICAL GENETICS

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy 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

Comparative genomics of autism and schizophrenia

(2009) B. Crespi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genomic disorders ten years on

(2009) James R Lupski   Genome Medicine

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

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

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Schizophrenia: Incriminating genomic evidence

(2008) James R. Lupski   NATURE

The complete genome of an individual by massively parallel DNA sequencing

(2008) David A. Wheeler et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

(2008) Nicola Brunetti-Pierri et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Segmental Duplications Arise from Pol32-Dependent Repair of Broken Forks through Two Alternative Replication-Based Mechanisms

(2008) Celia Payen et al.   PLoS Genetics