Large-scale discovery of novel genetic causes of developmental disorders (Q47073693)

24 June 2018

title

Large-scale discovery of novel genetic causes of developmental disorders (English)

1 reference

24 June 2018

CCR4-NOT transcription complex, subunit 1

main subject

1 reference

Zinc finger, RAN-binding domain containing 1b

1 reference

IlvB (bacterial acetolactate synthase)-like

1 reference

Pogo transposable element derived with ZNF domain a

1 reference

Dipeptidase 2

1 reference

1 reference

Threonine synthase-like 2

1 reference

WW and C2 domain containing 1

1 reference

DTW domain containing 2

1 reference

Secretagogin, EF-hand calcium binding protein

1 reference

Proteasome 26S subunit, non-ATPase 3

1 reference

Deciphering Developmental Disorders Study

author

series ordinal

1

object named as

Deciphering Developmental Disorders Study

1 reference

24 June 2018

PMC publication ID

5955210

language of work or name

English

0 references

publication date

24 December 2014

1 reference

24 June 2018

published in

Nature

1 reference

24 June 2018

volume

519

1 reference

24 June 2018

issue

7542

1 reference

24 June 2018

page(s)

223-228

1 reference

24 June 2018

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

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

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=5955210

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

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=5955210

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental 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=5955210

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=5955210

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=5955210

A systematic genome-wide analysis of zebrafish protein-coding gene function

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

Rare complete knockouts in humans: population distribution and significant role in autism spectrum 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=5955210

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=5955210

Cohort Profile: Generation Scotland: Scottish Family Health Study (GS:SFHS). The study, its participants and their potential for genetic research on health and illness.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

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=5955210

Patterns and rates of exonic de novo mutations in autism spectrum 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=5955210

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=5955210

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=5955210

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for 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=5955210

Mouse model for probing tumor suppressor activity of protein phosphatase 2A in diverse signaling pathways

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

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=5955210

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum 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=5955210

Characterising and predicting haploinsufficiency in the human genome.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

The Kraepelinian dichotomy - going, going... but still not gone

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

Interorganelle trafficking of ceramide is regulated by phosphorylation-dependent cooperativity between the PH and START domains of CERT.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

Genome-wide reverse genetics framework to identify novel functions of the vertebrate secretome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5955210

Diagnostic exome sequencing in persons with 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=5955210

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

15 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE14135

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NATURE14135

1 reference

24 June 2018

PMC publication ID

5955210

1 reference

24 June 2018

PubMed publication ID

25533962

1 reference

24 June 2018