De novo mutations, genetic mosaicism and human disease

Mutation bias reflects natural selection in Arabidopsis thaliana

(2022) J. Grey Monroe et al.   NATURE

Replication-independent instability of Friedreich’s ataxia GAA repeats during chronological aging

(2021) Alexander J. Neil et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature

(2021) Geerke M Eggenhuizen et al.   HUMAN REPRODUCTION UPDATE

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

Lineage tracing of human development through somatic mutations

(2021) Michael Spencer Chapman et al.   NATURE

Early developmental asymmetries in cell lineage trees in living individuals

(2021) Liana Fasching et al.   SCIENCE

Extensive phylogenies of human development inferred from somatic mutations

(2021) Tim H. H. Coorens et al.   NATURE

Clonal dynamics in early human embryogenesis inferred from somatic mutation

(2021) Seongyeol Park et al.   NATURE

Molecular mechanisms underlying nucleotide repeat expansion disorders

(2021) Indranil Malik et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

(2021) Guillaume Canaud et al.   Orphanet Journal of Rare Diseases

FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeats

(2021) Antonio Porro et al.   Science Advances

Sperm mosaicism: implications for genomic diversity and disease

(2021) Martin W. Breuss et al.   TRENDS IN GENETICS

FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instability

(2021) Amit Laxmikant Deshmukh et al.   Cell Reports

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Disorders caused by genetic mosaicism

(2020) Ute Moog et al.   Deutsches Arzteblatt International

On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability

(2020) Alexandra N. Khristich et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evolution of a Human-Specific Tandem Repeat Associated with ALS

(2020) Meredith M. Course et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A six-attribute classification of genetic mosaicism

(2020) Víctor Martínez-Glez et al.   GENETICS IN MEDICINE

Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset

(2020) Fernando Morales et al.   HUMAN MOLECULAR GENETICS

Genome-wide detection of tandem DNA repeats that are expanded in autism

(2020) Brett Trost et al.   NATURE

Spermatogonial stem cells: updates from specification to clinical relevance

(2019) Swati Sharma et al.   HUMAN REPRODUCTION UPDATE

Germline mutation: de novo mutation in reproductive lineage cells

(2019) Kunihiko Sakumi   GENES & GENETIC SYSTEMS

Disruption of RNA Metabolism in Neurological Diseases and Emerging Therapeutic Interventions

(2019) Julia K. Nussbacher et al.   NEURON

Overlooked roles of DNA damage and maternal age in generating human germline mutations

(2019) Ziyue Gao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

(2019) Jong-Min Lee et al.   CELL

Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

(2019) Thomas A Sasani et al.   eLife

Should we genotype the sperm of fathers from patients with 'de novo' mutations?

(2019) Laurence Pacot et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

De Novo Mutations Reflect Development and Aging of the Human Germline

(2019) J.M. Goldmann et al.   TRENDS IN GENETICS

Similarities and differences in patterns of germline mutation between mice and humans

(2019) Sarah J. Lindsay et al.   Nature Communications

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

(2019) Martin W. Breuss et al.   NATURE MEDICINE

Paternal sperm DNA mosaicism and recurrence risk of autism in families

(2019) Eric M. Morrow   NATURE MEDICINE

Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence

(2018) Jakob M. Goldmann et al.   NATURE GENETICS

Characterization of a Human-Specific Tandem Repeat Associated with Bipolar Disorder and Schizophrenia

(2018) Janet H.T. Song et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-Cell RNA Sequencing Analysis Reveals Sequential Cell Fate Transition during Human Spermatogenesis

(2018) Mei Wang et al.   Cell Stem Cell

A Comprehensive Roadmap of Murine Spermatogenesis Defined by Single-Cell RNA-Seq

(2018) Christopher Daniel Green et al.   DEVELOPMENTAL CELL

The adult human testis transcriptional cell atlas

(2018) Jingtao Guo et al.   CELL RESEARCH

Multiple transmissions of de novo mutations in families

(2018) Hákon Jónsson et al.   NATURE GENETICS

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids

(2018) Brian P. Hermann et al.   Cell Reports

Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells

(2018) Jovan Pešović et al.   Frontiers in Genetics

Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing

(2017) Santiago Munné et al.   FERTILITY AND STERILITY

A modifier of Huntington's disease onset at the MLH1 locus

(2017) Jong-Min Lee et al.   HUMAN MOLECULAR GENETICS

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Building a lineage from single cells: genetic techniques for cell lineage tracking

(2017) Mollie B. Woodworth et al.   NATURE REVIEWS GENETICS

MutSβ abundance and Msh3 ATP hydrolysis activity are important drivers of CTG•CAG repeat expansions

(2017) Norma Keogh et al.   NUCLEIC ACIDS RESEARCH

Aging and neurodegeneration are associated with increased mutations in single human neurons

(2017) Michael A. Lodato et al.   SCIENCE

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

(2017) Michael J. McConnell et al.   SCIENCE

Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline

(2017) Eleni Giannoulatou et al.   PLoS One

DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases

(2016) Conceição Bettencourt et al.   ANNALS OF NEUROLOGY

An expanded sequence context model broadly explains variability in polymorphism levels across the human genome

(2016) Varun Aggarwala et al.   NATURE GENETICS

Decoding germline de novo point mutations

(2016) Anne Goriely   NATURE GENETICS

Parent-of-origin-specific signatures of de novo mutations

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Mosaicism in health and disease — clones picking up speed

(2016) Lars A. Forsberg et al.   NATURE REVIEWS GENETICS

Specification and epigenetic programming of the human germ line

(2016) Walfred W. C. Tang et al.   NATURE REVIEWS GENETICS

Mutation rates and the evolution of germline structure

(2016) Aylwyn Scally   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

New observations on maternal age effect on germline de novo mutations

(2016) Wendy S. W. Wong et al.   Nature Communications

Interpreting the Dependence of Mutation Rates on Age and Time

(2016) Ziyue Gao et al.   PLOS BIOLOGY

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

Genome-wide characteristics of de novo mutations in autism

(2016) Ryan KC Yuen et al.   npj Genomic Medicine

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

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

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clusters of Multiple Mutations: Incidence and Molecular Mechanisms

(2015) Kin Chan et al.   Annual Review of Genetics

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

(2015) Jong-Min Lee et al.   CELL

Dynamic stem cell heterogeneity

(2015) T. Krieger et al.   DEVELOPMENT

Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder

(2015) J. H. Kogan et al.   JOURNAL OF NEUROSCIENCE

Unrevealed mosaicism in the next-generation sequencing era

(2015) Marzena Gajecka   MOLECULAR GENETICS AND GENOMICS

Cell-of-origin chromatin organization shapes the mutational landscape of cancer

(2015) Paz Polak et al.   NATURE

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Large-scale whole-genome sequencing of the Icelandic population

(2015) Daniel F Gudbjartsson et al.   NATURE GENETICS

Elevated germline mutation rate in teenage fathers

(2015) P. Forster et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Somatic mutation in cancer and normal cells

(2015) I. Martincorena et al.   SCIENCE

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

(2015) Søren Besenbacher et al.   Nature Communications

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

Determinants of Mutation Rate Variation in the Human Germline

(2014) Laure Ségurel et al.   Annual Review of Genomics and Human Genetics

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

(2014) August Y Huang et al.   CELL RESEARCH

Mouse Spermatogenic Stem Cells Continually Interconvert between Equipotent Singly Isolated and Syncytial States

(2014) Kenshiro Hara et al.   Cell Stem Cell

Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair

(2014) Gülşah M Dal et al.   JOURNAL OF MEDICAL GENETICS

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability

(2014) Kaalak Reddy et al.   NUCLEIC ACIDS RESEARCH

Strong male bias drives germline mutation in chimpanzees

(2014) O. Venn et al.   SCIENCE

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

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

Genome Instability and Aging

(2013) Jan Vijg et al.   Annual Review of Physiology

The Paternal Age Effect: A Multifaceted Phenomenon

(2013) Jamila R. Momand et al.   BIOLOGY OF REPRODUCTION

DNA strand break repair and neurodegeneration

(2013) Stuart L. Rulten et al.   DNA REPAIR

High-resolution DNA methylome analysis of primordial germ cells identifies gender-specific reprogramming in mice

(2013) H. Kobayashi et al.   GENOME RESEARCH

Prevalence of Multinucleotide Replacements in Evolution of Primates and Drosophila

(2013) Nadezhda V. Terekhanova et al.   MOLECULAR BIOLOGY AND EVOLUTION

Somatic alpha-synuclein mutations in Parkinson's disease: Hypothesis and preliminary data

(2013) Christos Proukakis et al.   MOVEMENT DISORDERS

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Replicative mechanisms for CNV formation are error prone

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

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Ageing of the male germ line

(2013) Catriona Paul et al.   Nature Reviews Urology

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Properties and rates of germline mutations in humans

(2013) Catarina D. Campbell et al.   TRENDS IN GENETICS

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches

(2013) Ricardo Mouro Pinto et al.   PLoS Genetics

Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

(2012) Anne Goriely et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation

(2012) Amnon Koren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Gilad D. Evrony et al.   CELL

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations

(2012) C. Robberecht et al.   GENOME RESEARCH

Somatic instability of the expanded CTG triplet repeat in myotonic dystrophy type 1 is a heritable quantitative trait and modifier of disease severity

(2012) Fernando Morales et al.   HUMAN MOLECULAR GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Recombination-restarted replication makes inverted chromosome fusions at inverted repeats

(2012) Ken’Ichi Mizuno et al.   NATURE

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

(2012) Alexej Abyzov et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

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

(2012) Augustine Kong et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Exploring the variation within

(2012) Evan Z Macosko et al.   NATURE GENETICS

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

(2012) Gijs W E Santen et al.   NATURE GENETICS

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

De novo mutations in human genetic disease

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

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice

(2012) Marina Kovalenko et al.   PLoS One

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

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pervasive Multinucleotide Mutational Events in Eukaryotes

(2011) Daniel R. Schrider et al.   CURRENT BIOLOGY

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

(2011) Ying Wang et al.   MOLECULAR GENETICS AND METABOLISM

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

(2011) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

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

(2011) Donald F Conrad et al.   NATURE GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of next-generation genomic data in cancer: accomplishments and challenges

(2010) L. Ding et al.   HUMAN MOLECULAR GENETICS

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

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers 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

The future of genetic research on neurodegeneration

(2010) Christine Van Broeckhoven   NATURE MEDICINE

Advances in understanding cancer genomes through second-generation sequencing

(2010) Matthew Meyerson et al.   NATURE REVIEWS GENETICS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

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

Dynamics and processes of copy number instability in human  -globin genes

(2010) R. Neumann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rate, molecular spectrum, and consequences of human mutation

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

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy

(2009) ATJM Helderman-van den Enden et al.   CLINICAL GENETICS

L1 retrotransposition occurs mainly in embryogenesis and creates somatic mosaicism

(2009) H. Kano et al.   GENES & DEVELOPMENT

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

(2009) Anne Goriely et al.   NATURE GENETICS

Understanding what determines the frequency and pattern of human germline mutations

(2009) Norman Arnheim et al.   NATURE REVIEWS GENETICS

DNA repair deficiency and neurological disease

(2009) Peter J. McKinnon   NATURE REVIEWS NEUROSCIENCE

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

Statement on guidance for genetic counseling in advanced paternal age

(2008) Helga V Toriello et al.   GENETICS IN MEDICINE

DNA instability in postmitotic neurons

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