(Q37556964)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

title

denovo-db: a compendium of human de novo variants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

John Huddleston

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Anna-Lisa Doebley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

9

Deborah A Nickerson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

10

Evan E Eichler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

3

Niklas Krumm

1 reference

28 March 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

Qian Yi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Kendra Hoekzema

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Holly A F Stessman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

Raphael A Bernier

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

language of work or name

English

0 references

publication date

5 October 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

published in

Nucleic Acids Research

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

volume

45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

issue

D1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

page(s)

D804-D811

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution-NonCommercial 4.0 International

28 March 2020

copyright license

start time

4 January 2017

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Molecular subtyping and improved treatment of neurodevelopmental disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Whole-Exome Sequencing in a South American Cohort Links ALDH1A3, FOXN1 and Retinoic Acid Regulation Pathways to Autism Spectrum Disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo mutations from sporadic schizophrenia cases highlight important signaling genes in an independent sample

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Excess of rare, inherited truncating mutations in autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

The contribution of de novo coding mutations to autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Synaptic, transcriptional and chromatin genes disrupted in autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Whole-genome sequence variation, population structure and demographic history of the Dutch population

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

A general framework for estimating the relative pathogenicity of human genetic variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo mutations in schizophrenia implicate synaptic networks

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo mutations in epileptic encephalopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Exome sequencing to identify de novo mutations in sporadic ALS trios

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Cantú syndrome is caused by mutations in ABCC9.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Targeted capture and massively parallel sequencing of 12 human exomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

dbSNP-database for single nucleotide polymorphisms and other classes of minor genetic variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Achondroplasia is defined by recurrent G380R mutations of FGFR3

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Loss-of-function de novo mutations play an important role in severe human neural tube defects

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Interpreting de novo Variation in Human Disease Using denovolyzeR.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Whole-genome sequencing of quartet families with autism spectrum disorder

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

Diagnostic exome sequencing in persons with severe intellectual disability

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5210614

1 September 2018

Identifiers

DOI

10.1093/NAR/GKW865

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

journals/nar/TurnerYKHHSDBNE17

28 March 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27907889%20AND%20SRC:MED&resulttype=core&format=json

28 March 2020

PubMed publication ID

27907889

1 reference