(Q37590457)

21 August 2017

A comprehensive global genotype-phenotype database for rare diseases (English)

1 reference

21 August 2017

0 references

1 reference

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Daniel Trujillano

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Gabriela-Elena Oprea

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Yvonne Schmitz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Aida M Bertoli-Avella

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Arndt Rolfs

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

publication date

23 November 2016

1 reference

Molecular genetics & genomic medicine

21 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

66-75

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

ClinGen--the Clinical Genome Resource

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

HPOSim: an R package for phenotypic similarity measure and enrichment analysis based on the human phenotype ontology

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

ClinVar: public archive of relationships among sequence variation and human phenotype

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Databases of genomic variation and phenotypes: existing resources and future needs

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

An integrated map of genetic variation from 1,092 human genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Next-generation sequencing demands next-generation phenotyping

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Analysis of DNA sequence variants detected by high-throughput sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

General mutation databases: analysis and review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Access to a syllabus of human hemoglobin variants (1996) via the World Wide Web.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

A survey of locus-specific database curation. Human Genome Variation Society

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5241210

1 September 2018

Identifiers

DOI

10.1002/MGG3.262

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28116331%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

28116331

1 reference