(Q31150058)

20 August 2017

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations (English)

1 reference

20 August 2017

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Jane Gibson

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Karen Temple

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Andrew Collins

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

9

Sarah Ennis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

1

William J Tapper

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

author name string

Nicola Foulds

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Paula Aranaz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Joannah Score

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

Claire Hidalgo-Curtis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

David O Robinson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

language of work or name

English

0 references

publication date

31 January 2014

1 reference

20 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

page(s)

e86940

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

4 June 2020

copyright license

start time

31 January 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

Detecting false-positive signals in exome sequencing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

The variant call format and VCFtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

The sampling theory of selectively neutral alleles

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3908952

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24497998

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PIK3CA, a hotspot for postzygotic mutations in nonhereditary overgrowth syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24497998

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0086940

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json

4 June 2020

PubMed publication ID

24497998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24497998%20AND%20SRC:MED&resulttype=core&format=json