Mutations in HECW2 are associated with intellectual disability and epilepsy (Q34531736)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27334371%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

title

Mutations in HECW2 are associated with intellectual disability and epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27334371%20AND%20SRC:MED&resulttype=core&format=json

disability affecting intellectual abilities

15 March 2020

main subject

disability

0 references

intellectual disability

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author

Ann-Charlotte Thuresson

10

1 reference

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15 March 2020

author name string

Jonatan Halvardson

1

1 reference

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15 March 2020

Jin J Zhao

2

1 reference

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15 March 2020

Ammar Zaghlool

3

1 reference

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15 March 2020

Christian Wentzel

4

1 reference

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15 March 2020

Patrik Georgii-Hemming

5

1 reference

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15 March 2020

Else Månsson

6

1 reference

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15 March 2020

Helena Ederth Sävmarker

7

1 reference

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15 March 2020

Göran Brandberg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27334371%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

Cecilia Soussi Zander

9

1 reference

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15 March 2020

Lars Feuk

11

1 reference

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15 March 2020

language of work or name

English

0 references

publication date

22 June 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27334371%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

15 March 2020

published in

1 reference

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15 March 2020

volume

53

1 reference

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15 March 2020

issue

10

1 reference

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15 March 2020

page(s)

697-704

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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

15 March 2020

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7 July 2018

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7 July 2018

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Genome sequencing identifies major causes of severe intellectual disability

7 July 2018

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De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

7 July 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

7 July 2018

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A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis

7 July 2018

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The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition

7 July 2018

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Genic intolerance to functional variation and the interpretation of personal genomes

7 July 2018

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De novo mutations in epileptic encephalopathies

7 July 2018

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Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

7 July 2018

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

7 July 2018

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

7 July 2018

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7 July 2018

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

7 July 2018

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Exome sequencing supports a de novo mutational paradigm for schizophrenia.

7 July 2018

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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

7 July 2018

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Genetics of Early Onset Cognitive Impairment

7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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7 July 2018

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Epilepsy in adults with intellectual disabilities: prevalence, associations and service implications.

21 January 2018

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Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

21 January 2018

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21 January 2018

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The epidemiology of epilepsy: the size of the problem.

27 October 2018

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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27334371

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2016-103814

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27334371%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27334371%20AND%20SRC:MED&resulttype=core&format=json

15 March 2020

PubMed publication ID

27334371

1 reference