A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs

(2018) August Yue Huang et al.   PLoS Genetics

One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin

(2017) Alexej Abyzov et al.   GENOME RESEARCH

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

(2017) Yanmei Dou et al.   HUMAN MUTATION

Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases

(2017) Marie Bernkopf et al.   HUMAN MUTATION

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline

(2017) Michihiro Kono et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Somatic mutations reveal asymmetric cellular dynamics in the early human embryo

(2017) Young Seok Ju et al.   NATURE

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

(2017) August Yue Huang et al.   NUCLEIC ACIDS RESEARCH

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

(2017) Xiaoxu Yang et al.   Scientific Reports

PCDH19-related epilepsy in two mosaic male patients

(2016) Alessandra Terracciano et al.   EPILEPSIA

Early somatic mosaicism is a rare cause of long-QT syndrome

(2016) James Rush Priest et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome

(2015) Xiaojing Xu et al.   HUMAN MUTATION

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE 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

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

(2014) August Y Huang et al.   CELL RESEARCH

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

Age-related mutations associated with clonal hematopoietic expansion and malignancies

(2014) Mingchao Xie et al.   NATURE MEDICINE

Strong male bias drives germline mutation in chimpanzees

(2014) O. Venn et al.   SCIENCE

“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

Enhanced Sensitivity for Detection of Low-Level Germline MosaicRB1Mutations in Sporadic Retinoblastoma Cases Using Deep Semiconductor Sequencing

(2013) Zhao Chen et al.   HUMAN MUTATION

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Ancient Admixture in Human History

(2012) N. Patterson et al.   GENETICS

Highly variable recessive lethal or nearly lethal mutation rates during germ-line development of male Drosophila melanogaster

(2011) J.-J. Gao 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

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

Genetic history of an archaic hominin group from Denisova Cave in Siberia

(2010) David Reich et al.   NATURE

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

(2010) Gerald D. Fischbach et al.   NEURON