Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

(2018) Magdalena Koczkowska et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Enhancing the accuracy of next-generation sequencing for detecting rare and subclonal mutations

(2018) Jesse J. Salk et al.   NATURE REVIEWS GENETICS

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain

(2018) Sergey I. Nikolaev et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

DNA damage is a pervasive cause of sequencing errors, directly confounding variant identification

(2017) Lixin Chen et al.   SCIENCE

Examining Sources of Error in PCR by Single-Molecule Sequencing

(2017) Vladimir Potapov et al.   PLoS One

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

(2017) Eleni Giannoulatou et al.   PLoS One

Clinical and Molecular Characteristics of NF1-Mutant Lung Cancer

(2016) A. J. Redig et al.   CLINICAL CANCER RESEARCH

Artifactual mutations resulting from DNA lesions limit detection levels in ultrasensitive sequencing applications

(2016) Barbara Arbeithuber et al.   DNA RESEARCH

Polymerase specific error rates and profiles identified by single molecule sequencing

(2016) Matthew S. Hestand et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

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

(2016) Jakob M Goldmann et al.   NATURE GENETICS

Estimating Exceptionally Rare Germline and Somatic Mutation Frequencies via Next Generation Sequencing

(2016) Jordan Eboreime et al.   PLoS One

Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

(2016) Geoffrey J. Maher et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multi-nucleotide de novo Mutations in Humans

(2016) Søren Besenbacher et al.   PLoS Genetics

Cellular correlates of selfish spermatogonial selection

(2016) G. J. Maher et al.   Andrology

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

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

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant

(2015) Huijun Wang et al.   BMC Medical Genetics

Incidence of testicular germ cell tumors among US men by census region

(2015) Armen A. Ghazarian et al.   CANCER

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Cancer Evolution Constrained by Mutation Order

(2015) Charles Swanton   NEW ENGLAND JOURNAL OF MEDICINE

Deep sequencing as a probe of normal stem cell fate and preneoplasia in human epidermis

(2015) Benjamin D. Simons   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) I. Martincorena et al.   SCIENCE

Somatic mosaicism: implications for disease and transmission genetics

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

Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis

(2015) Thomas McKerrell et al.   Cell Reports

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

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

MAP2K1 (MEK1) Mutations Define a Distinct Subset of Lung Adenocarcinoma Associated with Smoking

(2014) M. E. Arcila et al.   CLINICAL CANCER RESEARCH

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

(2014) H. Holstege et al.   GENOME RESEARCH

Detecting ultralow-frequency mutations by Duplex Sequencing

(2014) Scott R Kennedy et al.   Nature Protocols

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

Enhanced Fitness of Adult Spermatogonial Stem Cells Bearing a Paternal Age-Associated FGFR2 Mutation

(2014) Laura A. Martin et al.   Stem Cell Reports

Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection

(2013) Song-Ro Yoon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

“Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders

(2013) Anne Goriely et al.   AMERICAN JOURNAL OF PSYCHIATRY

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia

(2013) Deepali N. Shinde et al.   HUMAN MOLECULAR GENETICS

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline

(2013) E. Giannoulatou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Defining Stem Cell Dynamics in Models of Intestinal Tumor Initiation

(2013) L. Vermeulen et al.   SCIENCE

The Genetic Landscape of Clinical Resistance to RAF Inhibition in Metastatic Melanoma

(2013) E. M. Van Allen et al.   Cancer Discovery

Cellular evidence for selfish spermatogonial selection in aged human testes

(2013) G. J. Maher et al.   Andrology

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

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

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

(2012) Augustine Kong et al.   NATURE

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

(2012) Cathy C Laurie et al.   NATURE GENETICS

Selfish Spermatogonial Selection: Evidence from an Immunohistochemical Screen in Testes of Elderly Men

(2012) Jasmine Lim et al.   PLoS One

Positive Selection for New Disease Mutations in the Human Germline: Evidence from the Heritable Cancer Syndrome Multiple Endocrine Neoplasia Type 2B

(2012) Soo-Kyung Choi et al.   PLoS Genetics

Evaluation of genomic high-throughput sequencing data generated on Illumina HiSeq and Genome Analyzer systems

(2011) André E Minoche et al.   GENOME BIOLOGY

Mouse Germ Line Stem Cells Undergo Rapid and Stochastic Turnover

(2010) Allon M. Klein et al.   Cell Stem Cell

Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

(2010) Tomoko Kobayashi et al.   HUMAN MUTATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors

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

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

(2009) Anne Goriely et al.   NATURE GENETICS

Stochastic fate of p53-mutant epidermal progenitor cells is tilted toward proliferation by UV B during preneoplasia

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

The Ups and Downs of Mutation Frequencies during Aging Can Account for the Apert Syndrome Paternal Age Effect

(2009) Song-Ro Yoon et al.   PLoS Genetics

A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations

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

Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies

(2007) Mbarka Dakouane Giudicelli et al.   FERTILITY AND STERILITY