(Q36004324)

11 August 2017

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant (English)

1 reference

Potassium channel tetramerization domain containing 13

11 August 2017

1 reference

GOA release 2020-03-11

1 reference

13

1 reference

11 August 2017

Christelle Golzio

1

0 references

Michael E. Talkowski

Michael E Talkowski

3

0 references

Jacques S Beckmann

Jacques S Beckmann

12

0 references

Alexandre Reymond

7

Alexandre Reymond

1 reference

11 August 2017

Atsushi Kamiya

11

0 references

James F. Gusella

10

James F Gusella

1 reference

11 August 2017

6

Sébastien Jacquemont

1 reference

11 August 2017

Jason Willer

2

1 reference

11 August 2017

Edwin C Oh

4

1 reference

11 August 2017

Yu Taniguchi

5

1 reference

11 August 2017

Mei Sun

8

1 reference

11 August 2017

Akira Sawa

9

1 reference

11 August 2017

language of work or name

English

0 references

publication date

16 May 2012

1 reference

11 August 2017

1 reference

11 August 2017

485

1 reference

11 August 2017

7398

1 reference

11 August 2017

363-367

1 reference

describes a project that uses

11 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3366115/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

A copy number variation morbidity map of developmental delay

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Progressive myoclonic epilepsy-associated gene KCTD7 is a regulator of potassium conductance in neurons.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

The histone methyltransferase SETDB1 is recurrently amplified in melanoma and accelerates its onset

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Structural variation in the human genome and its role in disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Microduplications of 16p11.2 are associated with schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Large recurrent microdeletions associated with schizophrenia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Association between microdeletion and microduplication at 16p11.2 and autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Recurrent 16p11.2 microdeletions in autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Strong association of de novo copy number mutations with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Dissecting contiguous gene defects: TBX1.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

A tumor necrosis factor alpha- and interleukin 6-inducible protein that interacts with the small subunit of DNA polymerase delta and proliferating cell nuclear antigen

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Neuron number and size in prefrontal cortex of children with autism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Mutations in RAI1 associated with Smith-Magenis syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

A novel POU domain gene, zebrafish pou2: expression and roles of two alternatively spliced twin products in early development

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 Gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3366115

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

14 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22596160

12 December 2020

inferred from PubMed ID database lookup

Overview of the Zebrafish system

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22596160

12 December 2020

inferred from PubMed ID database lookup

The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22596160

12 December 2020

inferred from PubMed ID database lookup

Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNATURE11091

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NATURE11091

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

22596160

1 reference