(Q34288731)

1 August 2017

De novo mutations in human genetic disease (English)

1 reference

1 August 2017

Joris A Veltman

1

0 references

Han G. Brunner

series ordinal

2

object named as

Han G Brunner

1 reference

1 August 2017

18 July 2012

1 reference

1 August 2017

Nature Reviews Genetics

1 reference

1 August 2017

13

1 reference

1 August 2017

565-575

1 reference

1 August 2017

8

1 reference

https://scigraph.springernature.com/pub.10.1038/nrg3241

1 August 2017

0 references

cites work

Mapping rare and common causal alleles for complex human diseases

1 reference

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

31 March 2020

1 reference

Direct estimates of human per nucleotide mutation rates at 20 loci causing Mendelian diseases

31 March 2020

1 reference

The origins, patterns and implications of human spontaneous mutation

31 March 2020

1 reference

The distribution of fitness effects of new mutations

31 March 2020

1 reference

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

31 March 2020

1 reference

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

31 March 2020

1 reference

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

31 March 2020

1 reference

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

31 March 2020

1 reference

A de novo paradigm for mental retardation.

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

De Novo Gene Disruptions in Children on the Autistic Spectrum

31 March 2020

1 reference

Increased exonic de novo mutation rate in individuals with schizophrenia

31 March 2020

1 reference

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

31 March 2020

1 reference

Genetic heterogeneity in human disease

31 March 2020

1 reference

Genomic analysis of mental illness: a changing landscape

31 March 2020

1 reference

Advances in understanding cancer genomes through second-generation sequencing

31 March 2020

1 reference

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

31 March 2020

1 reference

Understanding what determines the frequency and pattern of human germline mutations

31 March 2020

1 reference

Variation in the mutation rate across mammalian genomes

31 March 2020

1 reference

The population genetics of mutations: good, bad and indifferent

31 March 2020

1 reference

The rate of spontaneous mutation of a human gene

31 March 2020

1 reference

A molecular approach to estimating the human deleterious mutation rate.

31 March 2020

1 reference

Analysis of genetic inheritance in a family quartet by whole-genome sequencing

31 March 2020

1 reference

Rate, molecular spectrum, and consequences of human mutation

31 March 2020

1 reference

De novo rates and selection of large copy number variation

31 March 2020

1 reference

Aetiology of Down's syndrome inferred by Waardenburg in 1932.

31 March 2020

1 reference

Copy number variation in human health, disease, and evolution

31 March 2020

1 reference

Human copy number variation and complex genetic disease.

31 March 2020

1 reference

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

31 March 2020

1 reference

Exome sequencing as a tool for Mendelian disease gene discovery

31 March 2020

1 reference

Unlocking Mendelian disease using exome sequencing

31 March 2020

1 reference

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

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

31 March 2020

1 reference

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

31 March 2020

1 reference

Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).

31 March 2020

1 reference

From germline towards somatic mutations in the pathophysiology of vascular anomalies

31 March 2020

1 reference

Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3

31 March 2020

1 reference

Evolution in health and medicine Sackler colloquium: Somatic evolutionary genomics: mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration.

31 March 2020

1 reference

Decoding cell lineage from acquired mutations using arbitrary deep sequencing

31 March 2020

1 reference

Chromosome instability is common in human cleavage-stage embryos.

31 March 2020

1 reference

Chromosomal mosaicism in human preimplantation embryos: a systematic review

31 March 2020

1 reference

Copy-number variations associated with neuropsychiatric conditions

31 March 2020

1 reference

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

31 March 2020

1 reference

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

31 March 2020

1 reference

Strong association of de novo copy number mutations with autism

31 March 2020

1 reference

Structural variation of chromosomes in autism spectrum disorder

31 March 2020

1 reference

Strong association of de novo copy number mutations with sporadic schizophrenia

31 March 2020

1 reference

The causality of de novo copy number variants is overestimated

31 March 2020

1 reference

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

31 March 2020

1 reference

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

31 March 2020

1 reference

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

31 March 2020

1 reference

Direct measure of the de novo mutation rate in autism and schizophrenia cohorts

31 March 2020

1 reference

Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability

31 March 2020

1 reference

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

31 March 2020

1 reference

The Yin and Yang of YY1 in the nervous system

31 March 2020

1 reference

Forging links between human mental retardation-associated CNVs and mouse gene knockout models

31 March 2020

1 reference

Functional impact of global rare copy number variation in autism spectrum disorders

31 March 2020

1 reference

Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility

31 March 2020

1 reference

DADA: Degree-Aware Algorithms for Network-Based Disease Gene Prioritization

31 March 2020

1 reference

In silico gene prioritization by integrating multiple data sources

31 March 2020

1 reference

Detection of nonneutral substitution rates on mammalian phylogenies

31 March 2020

1 reference

Distribution and intensity of constraint in mammalian genomic sequence

31 March 2020

1 reference

Amino acid difference formula to help explain protein evolution

31 March 2020

1 reference

Human non-synonymous SNPs: server and survey

31 March 2020

1 reference

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

31 March 2020

1 reference

Characterising and predicting haploinsufficiency in the human genome.

31 March 2020

1 reference

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

31 March 2020

1 reference

Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome.

31 March 2020

1 reference

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

31 March 2020

1 reference

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

31 March 2020

1 reference

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

31 March 2020

1 reference

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

31 March 2020

1 reference

Somatic gene mutation and human disease other than cancer: an update

31 March 2020

1 reference

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

31 March 2020

1 reference

The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males

31 March 2020

1 reference

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

31 March 2020

1 reference

Fetal nucleic acids in maternal plasma

31 March 2020

1 reference

Maternal Plasma DNA Sequencing Reveals the Genome-Wide Genetic and Mutational Profile of the Fetus

31 March 2020

1 reference

Chromosome abnormalities in the human oocyte

31 March 2020

1 reference

Missing heritability: paternal age effect mutations and selfish spermatogonia

31 March 2020

1 reference

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease

31 March 2020

1 reference

Statement on guidance for genetic counseling in advanced paternal age

31 March 2020

1 reference

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

31 March 2020

1 reference

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

31 March 2020

1 reference

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

31 March 2020

1 reference

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

31 March 2020

1 reference

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

31 March 2020

1 reference

Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing

31 March 2020

1 reference

A common inversion under selection in Europeans

31 March 2020

1 reference

PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice

31 March 2020

1 reference

Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations

31 March 2020

1 reference

PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans

31 March 2020

1 reference

Maternal germline-specific effect of DNA ligase I on CTG/CAG instability.

31 March 2020

1 reference

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

31 March 2020

1 reference

Multiple de novo mutations in the MECP2 gene

31 March 2020

1 reference

Performance comparison of whole-genome sequencing platforms

31 March 2020

1 reference

Whole-exome sequencing of DNA from peripheral blood mononuclear cells (PBMC) and EBV-transformed lymphocytes from the same donor

31 March 2020

1 reference

Copy number variation and selection during reprogramming to pluripotency

31 March 2020

1 reference

Extensive genomic copy number variation in embryonic stem cells

31 March 2020

1 reference

Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases.

31 March 2020

1 reference

Spontaneous mutation in man

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22805709

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The rate of spontaneous mutation of a human gene. 1935.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22805709

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRG3241

1 reference

PubMed ID

22805709

Dimensions Publication ID

1 August 2017

0 references

1 reference

PubMed ID

22805709