Signatures of replication timing, recombination, and sex in the spectrum of rare variants on the human X chromosome and autosomes

Transition from a meiotic to a somatic-like DNA damage response during the pachytene stage in mouse meiosis

(2019) Andrea Enguita-Marruedo et al.   PLoS Genetics

Characterizing mutagenic effects of recombination through a sequence-level genetic map

(2019) Bjarni V. Halldorsson et al.   SCIENCE

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

Mammalian X Chromosome Dosage Compensation: Perspectives From the Germ Line

(2018) Mahesh N. Sangrithi et al.   BIOESSAYS

PRDM9 Methyltransferase Activity Is Essential for Meiotic DNA Double-Strand Break Formation at Its Binding Sites

(2018) Boubou Diagouraga et al.   MOLECULAR CELL

Spermatogonial stem cells and spermatogenesis in mice, monkeys and men

(2018) Adetunji P. Fayomi et al.   Stem Cell Research

Large scale variation in the rate of germ-line de novo mutation, base composition, divergence and diversity in humans

(2018) Thomas C. A. Smith et al.   PLoS Genetics

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

(2018) Jedidiah Carlson et al.   Nature Communications

Contrasting Determinants of Mutation Rates in Germline and Soma

(2017) Chen Chen et al.   GENETICS

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

(2017) Hákon Jónsson et al.   NATURE

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

Refined genetic maps reveal sexual dimorphism in human meiotic recombination at multiple scales

(2017) Claude Bhérer et al.   Nature Communications

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

(2017) Vagheesh M. Narasimhan et al.   Nature Communications

Human Embryonic Stem Cells Do Not Change Their X Inactivation Status during Differentiation

(2017) Sanjeet Patel et al.   Cell Reports

Differences in the rare variant spectrum among human populations

(2017) Iain Mathieson et al.   PLoS Genetics

Rapid evolution of the human mutation spectrum

(2017) Kelley Harris et al.   eLife

Contrasting Determinants of Mutation Rates in Germline and Soma

(2017) Chen Chen et al.   GENETICS

Transcriptome analysis of highly purified mouse spermatogenic cell populations: gene expression signatures switch from meiotic-to postmeiotic-related processes at pachytene stage

(2016) Irene da Cruz et al.   BMC GENOMICS

The Landscape of Mouse Meiotic Double-Strand Break Formation, Processing, and Repair

(2016) Julian Lange et al.   CELL

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

(2016) Serena Nik-Zainal et al.   NATURE

Tissue-specific mutation accumulation in human adult stem cells during life

(2016) Francis Blokzijl et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

(2016) Nicola Barban et al.   NATURE GENETICS

Specification and epigenetic programming of the human germ line

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

Genetic drift, selection and the evolution of the mutation rate

(2016) Michael Lynch et al.   NATURE REVIEWS GENETICS

Chromosome Synapsis Alleviates Mek1-Dependent Suppression of Meiotic DNA Repair

(2016) Vijayalakshmi V. Subramanian et al.   PLOS BIOLOGY

Double-strand break repair on sex chromosomes: challenges during male meiotic prophase

(2015) Lin-Yu Lu et al.   CELL CYCLE

Erosion of X Chromosome Inactivation in Human Pluripotent Cells Initiates with XACT Coating and Depends on a Specific Heterochromatin Landscape

(2015) Céline Vallot et al.   Cell Stem Cell

Differential DNA mismatch repair underlies mutation rate variation across the human genome

(2015) Fran Supek et al.   NATURE

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

(2015) Paz Polak et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs 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

Evidence for recent, population-specific evolution of the human mutation rate

(2015) Kelley Harris   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Determinants of Mutation Rate Variation in the Human Germline

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

Integrated transcriptome analysis of mouse spermatogenesis

(2014) Gennady Margolin et al.   BMC GENOMICS

Genetic Variation in Human DNA Replication Timing

(2014) Amnon Koren et al.   CELL

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

(2014) August Y Huang et al.   CELL RESEARCH

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(2014) John R. B. Perry et al.   NATURE

Recombination initiation maps of individual human genomes

(2014) F. Pratto et al.   SCIENCE

Recombination in the Human Pseudoautosomal Region PAR1

(2014) Anjali G. Hinch et al.   PLoS Genetics

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

(2013) V. M. Schaibley et al.   GENOME RESEARCH

The presence of a truncated base excision repair pathway in human spermatozoa that is mediated by OGG1

(2013) T. B. Smith et al.   JOURNAL OF CELL SCIENCE

Signatures of mutational processes in human cancer

(2013) Ludmil B. Alexandrov et al.   NATURE

Evidence for APOBEC3B mutagenesis in multiple human cancers

(2013) Michael B Burns et al.   NATURE GENETICS

An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers

(2013) Steven A Roberts et al.   NATURE GENETICS

Meiotic recombination in mammals: localization and regulation

(2013) Frédéric Baudat et al.   NATURE REVIEWS GENETICS

DNA replication timing and higher-order nuclear organization determine single-nucleotide substitution patterns in cancer genomes

(2013) Lin Liu et al.   Nature Communications

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

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

The tricky path to recombining X and Y chromosomes in meiosis

(2012) Liisa Kauppi et al.   Annals of the New York Academy of Sciences

Mutational Processes Molding the Genomes of 21 Breast Cancers

(2012) Serena Nik-Zainal et al.   CELL

Chromatin organization is a major influence on regional mutation rates in human cancer cells

(2012) Benjamin Schuster-Böckler et al.   NATURE

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

(2012) Augustine Kong et al.   NATURE

DNA replication timing and selection shape the landscape of nucleotide variation in cancer genomes

(2012) Yong H Woo et al.   Nature Communications

CpG islands and the regulation of transcription

(2011) A. M. Deaton et al.   GENES & DEVELOPMENT

X-inactivation and X-reactivation: epigenetic hallmarks of mammalian reproduction and pluripotent stem cells

(2011) Bernhard Payer et al.   HUMAN GENETICS

The large-scale distribution of somatic mutations in cancer genomes

(2011) Alan Hodgkinson et al.   HUMAN MUTATION

Variation in the mutation rate across mammalian genomes

(2011) Alan Hodgkinson et al.   NATURE REVIEWS GENETICS

Distinct Properties of the XY Pseudoautosomal Region Crucial for Male Meiosis

(2011) L. Kauppi et al.   SCIENCE

Redefining CpG islands using hidden Markov models

(2010) H. Wu et al.   BIOSTATISTICS

Evolutionarily conserved replication timing profiles predict long-range chromatin interactions and distinguish closely related cell types

(2010) T. Ryba et al.   GENOME RESEARCH

Drive Against Hotspot Motifs in Primates Implicates the PRDM9 Gene in Meiotic Recombination

(2010) S. Myers et al.   SCIENCE

DNA Damage in Human Spermatozoa Is Highly Correlated with the Efficiency of Chromatin Remodeling and the Formation of 8-Hydroxy-2′-Deoxyguanosine, a Marker of Oxidative Stress1

(2009) Geoffry N. De Iuliis et al.   BIOLOGY OF REPRODUCTION

Genome-wide dynamics of replication timing revealed by in vitro models of mouse embryogenesis

(2009) I. Hiratani et al.   GENOME RESEARCH

A small-cell lung cancer genome with complex signatures of tobacco exposure

(2009) Erin D. Pleasance et al.   NATURE

A comprehensive catalogue of somatic mutations from a human cancer genome

(2009) Erin D. Pleasance et al.   NATURE

Human mutation rate associated with DNA replication timing

(2009) John A Stamatoyannopoulos et al.   NATURE GENETICS

Mutation patterns in cancer genomes

(2009) A. F. Rubin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA