Mosaicism in health and disease — clones picking up speed

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

(2016) Jan P. Dumanski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue

(2016) Selina Vattathil et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells

(2016) Pei-Chi Wei et al.   CELL

Mosaic loss of chromosome Y is associated with common variation near TCL1A

(2016) Weiyin Zhou et al.   NATURE GENETICS

Single-cell genome sequencing: current state of the science

(2016) Charles Gawad et al.   NATURE REVIEWS GENETICS

Dissecting the multicellular ecosystem of metastatic melanoma by single-cell RNA-seq

(2016) I. Tirosh et al.   SCIENCE

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

(2016) Mitchell J. Machiela et al.   Nature Communications

The fetal thymus has a unique genomic copy number profile resulting from physiological T cell receptor gene rearrangement

(2016) Anders Valind et al.   Scientific Reports

Loss of Y Chromosome in Peripheral Blood of Colorectal and Prostate Cancer Patients

(2016) Predrag Noveski et al.   PLoS One

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of Large Structural Genetic Mosaicism in Human Autosomes

(2015) Mitchell J. Machiela et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fetal microchimerism and maternal health: A review and evolutionary analysis of cooperation and conflict beyond the womb

(2015) Amy M. Boddy et al.   BIOESSAYS

Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

(2015) Olga Žilina et al.   BMC GENOMICS

Chromothriptic Cure of WHIM Syndrome

(2015) David H. McDermott et al.   CELL

Cross-Generational Reproductive Fitness Enforced by Microchimeric Maternal Cells

(2015) Jeremy M. Kinder et al.   CELL

New data shed light on Y-loss-related pathogenesis in myelodysplastic syndromes

(2015) Christina Ganster et al.   GENES CHROMOSOMES & CANCER

The Proportion of Diploid 46,XX Cells Increases with Time in Women with Turner Syndrome—A 10-Year Follow-Up Study

(2015) Anna-Maria Denes et al.   Genetic Testing and Molecular Biomarkers

Signatures of post-zygotic structural genetic aberrations in the cells of histologically normal breast tissue that can predispose to sporadic breast cancer

(2015) Lars A. Forsberg et al.   GENOME RESEARCH

Characteristics of de novo structural changes in the human genome

(2015) Wigard P. Kloosterman et al.   GENOME RESEARCH

Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients

(2015) Anna Ronowicz et al.   HUMAN MUTATION

Detection of leukemia-associated mutations in peripheral blood DNA of hematologically normal elderly individuals

(2015) J Score et al.   LEUKEMIA

Profound parental bias associated with chromosome 14 acquired uniparental disomy indicates targeting of an imprinted locus

(2015) A Chase et al.   LEUKEMIA

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Analysis of the genetic phylogeny of multifocal prostate cancer identifies multiple independent clonal expansions in neoplastic and morphologically normal prostate tissue

(2015) Colin S Cooper et al.   NATURE GENETICS

Cell Lineage Analysis in Human Brain Using Endogenous Retroelements

(2015) Gilad D. Evrony et al.   NEURON

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

High burden and pervasive positive selection of somatic mutations in normal human skin

(2015) I. Martincorena et al.   SCIENCE

Variation in cancer risk among tissues can be explained by the number of stem cell divisions

(2015) C. Tomasetti et al.   SCIENCE

The Evidence for Increased L1 Activity in the Site of Human Adult Brain Neurogenesis

(2015) Alexey A. Kurnosov et al.   PLoS One

Unique features of the transcriptional response to model aneuploidy in human cells

(2014) Milena Dürrbaum et al.   BMC GENOMICS

Screening Newborn Blood Spots for 22q11.2 Deletion Syndrome Using Multiplex Droplet Digital PCR

(2014) D. Pretto et al.   CLINICAL CHEMISTRY

Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

(2014) H. Holstege et al.   GENOME RESEARCH

Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss

(2014) Ernest B. Hook et al.   HUMAN GENETICS

The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans

(2014) Tyl H. Taylor et al.   HUMAN REPRODUCTION UPDATE

Y-chromosome markers in Turner syndrome: Screening of 130 patients

(2014) Á. Sallai et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer

(2014) Lars A Forsberg et al.   NATURE GENETICS

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence

(2014) Giulio Genovese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes

(2014) Siddhartha Jaiswal et al.   NEW ENGLAND JOURNAL OF MEDICINE

Prenatal diagnosis of chromosomal mosaicism in over 1600 cases using array comparative genomic hybridization as a first line test

(2014) Louise Carey et al.   PRENATAL DIAGNOSIS

Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

(2014) Kristin A. Knouse et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Smoking is associated with mosaic loss of chromosome Y

(2014) J. P. Dumanski et al.   SCIENCE

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

(2014) Xuyu Cai et al.   Cell Reports

Revertant Mutation Releases Confined Lethal Mutation, Opening Pandora's Box: A Novel Genetic Pathogenesis

(2014) Yasushi Ogawa et al.   PLoS Genetics

Chimerism in monochorionic dizygotic twins: Case study and review

(2013) Kristen Chen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An estimation of the number of cells in the human body

(2013) Eva Bianconi et al.   ANNALS OF HUMAN BIOLOGY

Male breast cancer, age and sex chromosome aneuploidy

(2013) P A Jacobs et al.   BRITISH JOURNAL OF CANCER

Genetic Variants Regulating Immune Cell Levels in Health and Disease

(2013) Valeria Orrù et al.   CELL

Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome

(2013) Kim Freriks et al.   European Journal of Medical Genetics

Y chromosome loss in male patients with primary biliary cirrhosis

(2013) Ana Lleo et al.   JOURNAL OF AUTOIMMUNITY

Morphological and cytogenetic assessment of cleavage and blastocyst stage embryos

(2013) E. Fragouli et al.   MOLECULAR HUMAN REPRODUCTION

Association between large detectable clonal mosaicism and type 2 diabetes with vascular complications

(2013) Amélie Bonnefond et al.   NATURE GENETICS

Single-cell sequencing-based technologies will revolutionize whole-organism science

(2013) Ehud Shapiro et al.   NATURE REVIEWS GENETICS

Distant Mesenchymal Progenitors Contribute to Skin Wound Healing and Produce Collagen: Evidence from a Murine Fetal Microchimerism Model

(2013) Elke Seppanen et al.   PLoS One

Post-Zygotic and Inter-Individual Structural Genetic Variation in a Presumptive Enhancer Element of the Locus between the IL10Rβ and IFNAR1 Genes

(2013) Hamid Reza Razzaghian et al.   PLoS One

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Aneuploidy, polyploidy and ploidy reversal in the liver

(2013) Andrew W. Duncan   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells

(2012) Lars A. Forsberg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Y-chromosome does not correlate with age at onset of head and neck carcinoma: a case-control study

(2012) L.C. Silva Veiga et al.   BRAZILIAN JOURNAL OF MEDICAL AND BIOLOGICAL RESEARCH

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

(2012) John S. Welch et al.   CELL

Twenty-four chromosome FISH in human IVF embryos reveals patterns of post-zygotic chromosome segregation and nuclear organisation

(2012) D. Ioannou et al.   CHROMOSOME RESEARCH

Cancer cells preferentially lose small chromosomes

(2012) Pascal H.G. Duijf et al.   INTERNATIONAL JOURNAL OF CANCER

Non-heritable genetics of human disease: spotlight on post-zygotic genetic variation acquired during lifetime

(2012) Lars Anders Forsberg et al.   JOURNAL OF MEDICAL GENETICS

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

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

(2012) Augustine Kong et al.   NATURE

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis

(2012) Lambert Busque et al.   NATURE GENETICS

Detectable clonal mosaicism and its relationship to aging and cancer

(2012) Kevin B Jacobs et al.   NATURE GENETICS

Detectable clonal mosaicism from birth to old age and its relationship to cancer

(2012) Cathy C Laurie et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome

(2012) Giulia Maria Baffero et al.   PRENATAL DIAGNOSIS

Extensive genetic variation in somatic human tissues

(2012) M. O'Huallachain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

(2011) Eric R Londin et al.   BMC GENOMICS

Frequent Aneuploidy Among Normal Human Hepatocytes

(2011) Andrew W. Duncan et al.   GASTROENTEROLOGY

Chromosomal mosaicism in human preimplantation embryos: a systematic review

(2011) Jannie van Echten-Arends et al.   HUMAN REPRODUCTION UPDATE

Increased loss of the Y chromosome in peripheral blood cells in male patients with autoimmune thyroiditis

(2011) Luca Persani et al.   JOURNAL OF AUTOIMMUNITY

The significance of isolated Y chromosome loss in bone marrow metaphase cells from males over age 50 years

(2011) Anne E. Wiktor et al.   LEUKEMIA RESEARCH

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

Variation in genome-wide mutation rates within and between human families

(2011) Donald F Conrad et al.   NATURE GENETICS

Human bone marrow hematopoietic stem cells are increased in frequency and myeloid-biased with age

(2011) W. W. Pang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic mosaicism in healthy human tissues

(2011) Subhajyoti De   TRENDS IN GENETICS

Somatic mosaicism for chromosome X and Y aneuploidies in monozygotic twins heterozygous for sickle cell disease mutation

(2010) Hamid Reza Razzaghian et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

(2010) Laura K. Conlin et al.   HUMAN MOLECULAR GENETICS

Epigenetic Control of Retrotransposon Expression in Human Embryonic Stem Cells

(2010) A. Macia et al.   MOLECULAR AND CELLULAR BIOLOGY

Fetal microchimerism as an explanation of disease

(2010) Laura Fugazzola et al.   Nature Reviews Endocrinology

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis

(2010) D. Gisselsson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

(2010) K. A. Choate et al.   SCIENCE

Evolution of the mutation rate

(2010) Michael Lynch   TRENDS IN GENETICS

Clinical significance of chimerism

(2009) Dianne Abuelo   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Y chromosome structural and functional changes in human malignant diseases

(2009) Néstor O. Bianchi   MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

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

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

B-cell diversity decreases in old age and is correlated with poor health status

(2008) Kate L. Gibson et al.   AGING CELL

Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

(2008) Carl E.G. Bruder et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study

(2008) Minouk J Schoemaker et al.   LANCET ONCOLOGY

Case-Control Study of Fetal Microchimerism and Breast Cancer

(2008) Vijayakrishna K. Gadi et al.   PLoS One

DNA instability in postmitotic neurons

(2008) R. Gonitel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aneuploidy Affects Proliferation and Spontaneous Immortalization in Mammalian Cells

(2008) B. R. Williams et al.   SCIENCE