4.4 Article

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Timing, rates and spectra of human germline mutation

Raheleh Rahbari et al.

NATURE GENETICS (2016)

Article Genetics & Heredity

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

Jakob M. Goldmann et al.

NATURE GENETICS (2016)

Article Multidisciplinary Sciences

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

Geoffrey J. Maher et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2016)

Review Biotechnology & Applied Microbiology

New insights into the generation and role of de novo mutations in health and disease

Rocio Acuna-Hidalgo et al.

GENOME BIOLOGY (2016)

Article Genetics & Heredity

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

Rocio Acuna-Hidalgo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Review Genetics & Heredity

Clusters of Multiple Mutations: Incidence and Molecular Mechanisms

Kin Chan et al.

ANNUAL REVIEW OF GENETICS, VOL 49 (2015)

Article Genetics & Heredity

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

Laurent C. Francioli et al.

NATURE GENETICS (2015)

Review Genetics & Heredity

Somatic mosaicism: implications for disease and transmission genetics

Ian M. Campbell et al.

TRENDS IN GENETICS (2015)

Article Multidisciplinary Sciences

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

Soren Besenbacher et al.

NATURE COMMUNICATIONS (2015)

Review Genetics & Heredity

Determinants of Mutation Rate Variation in the Human Germline

Laure Segurel et al.

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 15 (2014)

Article Genetics & Heredity

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

Guelsah M. Dal et al.

JOURNAL OF MEDICAL GENETICS (2014)

Article Multidisciplinary Sciences

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen et al.

NATURE (2014)

Review Genetics & Heredity

A genomic view of mosaicism and human disease

Leslie G. Biesecker et al.

NATURE REVIEWS GENETICS (2013)

Article Genetics & Heredity

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

Amnon Koren et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article Biochemistry & Molecular Biology

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

Jacob J. Michaelson et al.

Article Multidisciplinary Sciences

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

Augustine Kong et al.

NATURE (2012)

Article Biochemistry & Molecular Biology

The high fidelity and unique error signature of human DNA polymerase ε

Dagmara A. Korona et al.

NUCLEIC ACIDS RESEARCH (2011)

Article Biochemistry & Molecular Biology

Impact of replication timing on non-CpG and CpG substitution rates in mammalian genomes

Chun-Long Chen et al.

GENOME RESEARCH (2010)

Letter Genetics & Heredity

Missing heritability: paternal age effect mutations and selfish spermatogonia

Anne Goriely et al.

NATURE REVIEWS GENETICS (2010)

Article Multidisciplinary Sciences

Rate, molecular spectrum, and consequences of human mutation

Michael Lynch

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

Article Multidisciplinary Sciences

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

Jared C. Roach et al.

SCIENCE (2010)

Article Biochemistry & Molecular Biology

High fidelity and lesion bypass capability of human DNA polymerase delta

Michael W. Schmitt et al.

BIOCHIMIE (2009)

Article Genetics & Heredity

Human mutation rate associated with DNA replication timing

John A. Stamatoyannopoulos et al.

NATURE GENETICS (2009)