(Q37676902)

21 August 2017

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders (English)

1 reference

21 August 2017

4

Christa Lese Martin

1 reference

21 August 2017

Andres Moreno-De-Luca

2

object named as

Andres Moreno-De-Luca

0 references

David H. Ledbetter

3

object named as

David H Ledbetter

1 reference

21 August 2017

Andrea J Gonzalez-Mantilla

1

1 reference

21 August 2017

Andres Moreno-De-Luca

2

1 reference

21 August 2017

language of work or name

English

0 references

publication date

27 January 2016

1 reference

21 August 2017

1 reference

21 August 2017

73

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21 August 2017

3

1 reference

21 August 2017

275-283

1 reference

Adaptors for disorders of the brain? The cancer signaling proteins NEDD9, CASS4, and PTK2B in Alzheimer's disease

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

The contribution of de novo coding mutations to autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Synaptic, transcriptional and chromatin genes disrupted in autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Clinical exome sequencing for genetic identification of rare Mendelian disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Molecular findings among patients referred for clinical whole-exome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Disruptive CHD8 mutations define a subtype of autism early in development

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

A polygenic burden of rare disruptive mutations in schizophrenia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Clinical application of exome sequencing in undiagnosed genetic conditions

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Large-scale discovery of novel genetic causes of developmental disorders

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Clinical whole exome sequencing in child neurology practice.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5333489

10.1001/JAMAPSYCHIATRY.2015.2692

1 September 2018

Identifiers

DOI

1 reference

release_lsnadaba3jgupeqvbsav2uw2vi

21 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lsnadaba3jgupeqvbsav2uw2vi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

21 August 2017

PubMed publication ID

26817790

1 reference