Whole-genome sequencing in an autism multiplex family (Q28706284)

10

Kai Wang

0 references

Brendan J Keating

8

Brendan Keating

0 references

Gholson J Lyon

9

Gholson J Lyon

0 references

Frederick C F Otieno

4

Frederick G Otieno

0 references

Cuiping Hou

6

Cuiping Hou

0 references

Ryan Golhar

3

Ryan Golhar

0 references

author name string

Lingling Shi

1

0 references

Mingze He

5

0 references

Cecilia Kim

7

0 references

Xu Zhang

Using ERDS to infer copy-number variants in high-coverage genomes

2

0 references

language of work or name

English

0 references

publication date

18 April 2013

0 references

1 reference

4

0 references

issue

1

0 references

page(s)

8

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Limitations of the human reference genome for personalized genomics

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Hornerin is a component of the epidermal cornified cell envelopes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

A method and server for predicting damaging missense mutations

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Sequencing technologies - the next generation

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Common genetic variants on 5p14.1 associate with autism spectrum disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

The Lifetime Distribution of the Incremental Societal Costs of Autism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Strong association of de novo copy number mutations with autism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

A gene atlas of the mouse and human protein-encoding transcriptomes

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Trichohyalin mechanically strengthens the hair follicle: multiple cross-bridging roles in the inner root shealth

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Nep1p (Emg1p), a novel protein conserved in eukaryotes and archaea, is involved in ribosome biogenesis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Identification of two human WAVE/SCAR homologues as general actin regulatory molecules which associate with the Arp2/3 complex

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Characterization of the COQ5 gene from Saccharomyces cerevisiae. Evidence for a C-methyltransferase in ubiquinone biosynthesis

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Pairwise end sequencing: a unified approach to genomic mapping and sequencing

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Individual common variants exert weak effects on the risk for autism spectrum disorders

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

A genome-wide scan for common alleles affecting risk for autism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

De Novo Gene Disruptions in Children on the Autistic Spectrum

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

An integrated encyclopedia of DNA elements in the human genome

7 April 2017

1 reference

https://api.crossref.org/works/10.1186/2040-2392-4-8

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

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Mapping and analysis of chromatin state dynamics in nine human cell types

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Exome sequencing as a tool for Mendelian disease gene discovery

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

The NIH Roadmap Epigenomics Mapping Consortium

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Using whole-exome sequencing to identify inherited causes of autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Interpreting noncoding genetic variation in complex traits and human disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

wANNOVAR: annotating genetic variants for personal genomes via the web.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Performance comparison of whole-genome sequencing platforms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Unlocking Mendelian disease using exome sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Exome sequencing supports a de novo mutational paradigm for schizophrenia.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Identifying a high fraction of the human genome to be under selective constraint using GERP++.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Sporadic cases are the norm for complex disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

A genome-wide linkage and association scan reveals novel loci for autism

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

CSMD1 is a novel multiple domain complement-regulatory protein highly expressed in the central nervous system and epithelial tissues

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3642023

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

3 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F2040-2392-4-8

A common variant on chromosome 11q13 is associated with atopic dermatitis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F2040-2392-4-8

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F2040-2392-4-8

A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23597238

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased exonic de novo mutation rate in individuals with schizophrenia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23597238

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Organization, structure, and polymorphisms of the human profilaggrin gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23597238

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/2040-2392-4-8

1 reference

Dimensions Publication ID

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/2040-2392-4-8

1 reference

1 reference

PubMed publication ID

23597238

1 reference