(Q34236650)

31 July 2017

title

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism (English)

1 reference

31 July 2017

0 references

1 reference

Elaine T Lim

3

0 references

Maria H Chahrour

object named as

Maria H Chahrour

1

0 references

Timothy W Yu

object named as

Timothy W Yu

2

0 references

Stacey Gabriel

11

object named as

Stacey B Gabriel

1 reference

31 July 2017

12

Christopher A Walsh

1 reference

31 July 2017

Bulent Ataman

4

1 reference

31 July 2017

Michael E Coulter

5

1 reference

31 July 2017

R Sean Hill

6

1 reference

31 July 2017

Christine R Stevens

7

1 reference

31 July 2017

Christian R Schubert

8

1 reference

31 July 2017

ARRA Autism Sequencing Collaboration

9

1 reference

31 July 2017

Michael E Greenberg

10

1 reference

31 July 2017

publication date

12 April 2012

1 reference

31 July 2017

1 reference

31 July 2017

volume

8

1 reference

31 July 2017

issue

4

1 reference

31 July 2017

page(s)

e1002635

1 reference

Creative Commons Attribution 4.0 International

31 July 2017

copyright license

start time

12 April 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

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6 July 2018

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Exome sequencing identifies the cause of a mendelian disorder

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

6 July 2018

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6 July 2018

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

6 July 2018

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Autism genetics: strategies, challenges, and opportunities

6 July 2018

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Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease

6 July 2018

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Genome-wide analysis of MEF2 transcriptional program reveals synaptic target genes and neuronal activity-dependent polyadenylation site selection

6 July 2018

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Autism and brain development

6 July 2018

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Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

6 July 2018

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Identifying autism loci and genes by tracing recent shared ancestry

6 July 2018

1 reference

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Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system

6 July 2018

1 reference

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Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia.

6 July 2018

1 reference

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6 July 2018

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Consanguinity and genetic disorders. Profile from Jordan

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling

6 July 2018

1 reference

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Advanced renal insufficiency in a 34-year-old man with Lowe syndrome

21 January 2018

1 reference

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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

21 January 2018

1 reference

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Genomic mutation consequence calculator

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002635

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3325173

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22511880

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetics of autism spectrum disorders

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22511880

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22511880

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002635

1 reference

31 July 2017

1 reference

31 July 2017

1 reference