(Q38964419)

8 September 2017

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples (English)

1 reference

neurodevelopmental disorder

8 September 2017

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Kaitlin E Samocha

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Kamil Slowikowski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Kathryn Roeder

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Joseph Buxbaum

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Benjamin M. Neale

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Mark Joseph Daly

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

1

Jack A Kosmicki

1 reference

11 June 2020

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

Daniel P Howrigan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Monkol Lek

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Konrad J Karczewski

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

David J Cutler

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Bernie Devlin

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Daniel G MacArthur

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Dennis P Wall

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

Elise B Robinson

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

13 February 2017

1 reference

8 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

volume

49

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

page(s)

504-510

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

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

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Discontinuity in the genetic and environmental causes of the intellectual disability spectrum

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Excess of rare, inherited truncating mutations in autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Unified representation of genetic variants

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

The contribution of de novo coding mutations to autism spectrum disorder

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Synaptic, transcriptional and chromatin genes disrupted in autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Most genetic risk for autism resides with common variation

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

A polygenic burden of rare disruptive mutations in schizophrenia

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

De novo mutations in schizophrenia implicate synaptic networks

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Common genetic variants, acting additively, are a major source of risk for autism

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

De Novo Gene Disruptions in Children on the Autistic Spectrum

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Achondroplasia is defined by recurrent G380R mutations of FGFR3

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

The number of heterozygous nucleotide sites maintained in a finite population due to steady flux of mutations

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Molecular basis of base substitution hotspots in Escherichia coli

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

9 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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=5496244

Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa, or substance abuse vs their unaffected siblings

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

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=5496244

Reproductive patterns in psychotic patients

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Fertility of Patients With Schizophrenia, Their Siblings, and the General Population: A Cohort Study From 1950 to 1959 in Finland

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5496244

Linking the SWI/SNF complex to prostate cancer.

2 December 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.3789

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.3789

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28191890 AND SRC:MED&resulttype=core&format=json

11 June 2020

PubMed publication ID

28191890

1 reference