(Q29147448)

English

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

scientific journal article

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scholarly article

1 reference

4 April 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome (English)

1 reference

4 April 2017

SON DNA and RNA binding protein

1 reference

GOA release 2020-03-11

regulation of RNA splicing

1 reference

GOA release 2020-03-11

Joris A Veltman

13

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publication date

1 September 2016

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American Journal of Human Genetics

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12 June 2020

3

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12 June 2020

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

1 reference

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6 April 2017

The contribution of de novo coding mutations to autism spectrum disorder

1 reference

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Guidelines for investigating causality of sequence variants in human disease

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1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011044

6 April 2017

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1 reference

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1 reference

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1 reference

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6 April 2017

WDR62 is associated with the spindle pole and is mutated in human microcephaly

1 reference

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6 April 2017

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

1 reference

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6 April 2017

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

1 reference

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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

1 reference

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1 reference

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3 June 2018

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011044

26 November 2018

Large-scale discovery of novel genetic causes of developmental disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011044

26 November 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011044

26 November 2018

A de novo paradigm for mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011044

26 November 2018

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011044

26 November 2018

Identifiers

10.1016/J.AJHG.2016.06.029

2 references

4 April 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27545680%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27545680%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

2 references

4 April 2017

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27545680%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

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