Genotator: A disease-agnostic tool for genetic annotation of disease (Q34344661)

1 August 2017

title

Genotator: a disease-agnostic tool for genetic annotation of disease (English)

1 reference

1 August 2017

Genotator: A disease-agnostic tool for genetic annotation of disease (English)

1 reference

https://api.crossref.org/works/10.1186/1755-8794-3-50

17 August 2024

Peter J Tonellato

1 reference

1 August 2017

Rimma Pivovarov

1 reference

1 August 2017

Mark Tong

1 reference

1 August 2017

Jae-Yoon Jung

1 reference

1 August 2017

Dennis P. Wall

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

17 August 2024

Vincent A. Fusaro

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

17 August 2024

Todd F. DeLuca

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

17 August 2024

Peter J. Tonellato

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

17 August 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21034472

17 August 2024

publication date

29 October 2010

1 reference

full work available at URL

1 August 2017

https://bmcmedgenomics.biomedcentral.com/counter/pdf/10.1186/1755-8794-3-50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

http://www.biomedcentral.com/1755-8794/3/50/abstract

17 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

http://www.biomedcentral.com/1755-8794/3/50

17 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

http://www.biomedcentral.com/content/pdf/1755-8794-3-50.pdf

17 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21034472/pdf/?tool=EBI

17 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21034472/?tool=EBI

17 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

https://europepmc.org/articles/PMC2990725

17 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

https://europepmc.org/articles/PMC2990725?pdf=render

17 August 2024

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21034472

http://link.springer.com/content/pdf/10.1186/1755-8794-3-50.pdf

17 August 2024

1 reference

https://api.crossref.org/works/10.1186/1755-8794-3-50

http://link.springer.com/article/10.1186/1755-8794-3-50/fulltext.html

17 August 2024

1 reference

https://api.crossref.org/works/10.1186/1755-8794-3-50

http://link.springer.com/content/pdf/10.1186/1755-8794-3-50

17 August 2024

1 reference

https://api.crossref.org/works/10.1186/1755-8794-3-50

17 August 2024

1 reference

1 August 2017

1 reference

1 August 2017

1 reference

Genetics of Parkinson disease and essential tremor

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Analysis of biological processes and diseases using text mining approaches

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

The Universal Protein Resource (UniProt) in 2010

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Common genetic variants on 5p14.1 associate with autism spectrum disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Collaborative text-annotation resource for disease-centered relation extraction from biomedical text

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Gene Prospector: an evidence gateway for evaluating potential susceptibility genes and interacting risk factors for human diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Assessment of Alzheimer's disease case-control associations using family-based methods

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

A wiki for the life sciences where authorship matters

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Advances in autism genetics: on the threshold of a new neurobiology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Assessment of cumulative evidence on genetic associations: interim guidelines

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

SNPs3D: candidate gene and SNP selection for association studies.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Implementing the iHOP concept for navigation of biomedical literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

The genetic association database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Integrating genotype and phenotype information: an overview of the PharmGKB project. Pharmacogenetics Research Network and Knowledge Base

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

GeneCards: integrating information about genes, proteins and diseases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

The Human Gene Mutation Database: 2008 update

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

SFARI Gene: an evolving database for the autism research community

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

A navigator for human genome epidemiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Genatlas database, genes and development defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Association and transmission analysis of the FMR1 IVS10 + 14C-T variant in autism

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Case-control study of the parkin gene in early-onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Phenotypic associations of tau and ApoE in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

BDNF Val66Met polymorphism is associated with cognitive impairment in Italian patients with Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Association of DRD3 and GRIN2B with impulse control and related behaviors in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Association of variations in monoamine oxidases A and B with Parkinson's disease subgroups

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Effect of APOE genotype on amyloid plaque load and gray matter volume in Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Association of MTHFR gene polymorphism C677T with susceptibility to late-onset Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

Association between BDNF Val66Met polymorphism and Alzheimer disease, dementia with Lewy bodies, and Pick disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-3-50

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Point mutation analysis of the FMR-1 gene in autism

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990725

Pharmacogenomics in Alzheimer's disease

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21034472

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype-phenotype correlations between GBA mutations and Parkinson disease risk and onset

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21034472

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

Dimensions Publication ID

1 August 2017

0 references

1 reference

1 August 2017

1 reference