(Q35558522)

8 August 2017

title

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy (English)

1 reference

8 August 2017

1 reference

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Clare L van Eyk

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Michael E O'Callaghan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

Lam S Nguyen

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

David L. Adelson

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

author name string

G McMichael

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

M N Bainbridge

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

E Haan

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

M Corbett

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

A Gardner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

S Thompson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

B W M van Bon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

J Broadbent

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

C Reynolds

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

R Russo

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

S Jhangiani

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

H Doddapaneni

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

D M Muzny

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

R A Gibbs

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

A H MacLennan

20

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

language of work or name

English

0 references

publication date

10 February 2015

1 reference

8 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

2 June 2020

page(s)

176-182

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25666757%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/mp.2014.189

2 June 2020

exact match

0 references

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Antecedents of cerebral palsy. Multivariate analysis of risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Familial risk of cerebral palsy: population based cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Rare copy number variation in cerebral palsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Genic intolerance to functional variation and the interpretation of personal genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Characterising and predicting haploinsufficiency in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Patterns and rates of exonic de novo mutations in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Specific regulation of the adaptor protein complex AP-3 by the Arf GAP AGAP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

CRASH syndrome: mutations in L1CAM correlate with severity of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Mutations in γ adducin are associated with inherited cerebral palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Genetic basis of developmental malformations of the cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Spectrum ofHSPG2(Perlecan) mutations in patients with Schwartz-Jampel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FMP.2014.189

Epidemiologic associations with cerebral palsy

21 January 2018

1 reference

12 December 2020

Predicting functional effect of human missense mutations using PolyPhen-2.

1 reference

12 December 2020

What constitutes cerebral palsy?

1 reference

12 December 2020

A report: the definition and classification of cerebral palsy April 2006.

1 reference

12 December 2020