(Q38991782)

29 June 2018

meta-analysis

0 references

title

Prevalence and architecture of de novo mutations in developmental disorders (English)

1 reference

29 June 2018

Deciphering Developmental Disorders Study

author

series ordinal

1

object named as

Deciphering Developmental Disorders Study

1 reference

29 June 2018

PMCID

6016744

language of work or name

English

0 references

publication date

25 January 2017

1 reference

29 June 2018

published in

Nature

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29 June 2018

volume

542

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29 June 2018

issue

7642

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29 June 2018

page(s)

433-438

1 reference

29 June 2018

https://scigraph.springernature.com/pub.10.1038/nature21062

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

New observations on maternal age effect on germline de novo mutations

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Timing, rates and spectra of human germline mutation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Interpregnancy intervals in the United States: data from the birth certificate and the national survey of family growth

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

The contribution of de novo coding mutations to autism spectrum disorder

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Synaptic, transcriptional and chromatin genes disrupted in autism

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

A framework for the interpretation of de novo mutation in human disease

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Variant detection sensitivity and biases in whole genome and exome sequencing

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Diagnostically relevant facial gestalt information from ordinary photos

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Genome sequencing identifies major causes of severe intellectual disability

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

De novo mutations in schizophrenia implicate synaptic networks

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Genic intolerance to functional variation and the interpretation of personal genomes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

DeNovoGear: de novo indel and point mutation discovery and phasing.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

De novo mutations in epileptic encephalopathies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

De novo mutations in histone-modifying genes in congenital heart disease.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Point mutations as a source of de novo genetic disease.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

An integrated map of genetic variation from 1,092 human genomes

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

De Novo Gene Disruptions in Children on the Autistic Spectrum

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

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

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

A copy number variation morbidity map of developmental delay

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Genetics of early onset cognitive impairment

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Clinical diagnostics in human genetics with semantic similarity searches in ontologies

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

The Sequence Alignment/Map format and SAMtools

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Fast and accurate short read alignment with Burrows-Wheeler transform

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

The molecular basis of genetic dominance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Large-scale discovery of novel genetic causes of developmental disorders

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Diagnostic exome sequencing in persons with severe intellectual disability

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Object detection with discriminatively trained part-based models

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6016744

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

21 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE21062

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE21062

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE21062

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE21062

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNATURE21062

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE21062

1 reference

29 June 2018

PMCID

6016744

1 reference

29 June 2018

PubMed ID

28135719

1 reference

29 June 2018