(Q34011881)

30 July 2017

title

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research (English)

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30 July 2017

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17

Peter N Robinson

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Domenica Taruscio

3

Domenica Taruscio

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Rachel Thompson

Rachel Thompson

1

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Christophe Beroud

Christophe Béroud

5

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Manuel Posada

Manuel Posada

16

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Hanns Lochmüller

Hanns Lochmüller

19

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Kurt Zatloukal

12

Kurt Zatloukal

1 reference

30 July 2017

9

George P Patrinos

1 reference

30 July 2017

Louise Johnston

2

1 reference

30 July 2017

Lucia Monaco

4

1 reference

30 July 2017

Ivo G Gut

6

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30 July 2017

Mats G Hansson

7

1 reference

30 July 2017

Peter-Bram A 't Hoen

8

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30 July 2017

Hugh Dawkins

10

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30 July 2017

Monica Ensini

11

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30 July 2017

David Koubi

13

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30 July 2017

Emma Heslop

14

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30 July 2017

Justin E Paschall

15

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30 July 2017

Kate Bushby

18

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30 July 2017

publication date

1 August 2014

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Journal of General Internal Medicine

30 July 2017

published in

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30 July 2017

volume

29 Suppl 3

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30 July 2017

page(s)

S780-7

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The role of biobanking in rare diseases: European consensus expert group report

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Improved exome prioritization of disease genes through cross-species phenotype comparison

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Dispelling myths about rare disease registry system development

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

An innovative portal for rare genetic diseases research: the semantic Diseasecard

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

PhenoTips: patient phenotyping software for clinical and research use.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Patients would benefit from simplified ethical review and consent procedure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

COEUS: "semantic web in a box" for biomedical applications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Sharing heterogeneous data: the national database for autism research

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

ELIXIR: a distributed infrastructure for European biological data

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Yabi: An online research environment for grid, high performance and cloud computing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

LOVD v.2.0: the next generation in gene variant databases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Observing Huntington's Disease: the European Huntington's Disease Network's REGISTRY

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Public data archives for genomic structural variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Biobanking in rare disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Comparative demographics of the European cystic fibrosis population: a cross-sectional database analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Interventions for muscular dystrophy: molecular medicines entering the clinic

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Structuring and extracting knowledge for the support of hypothesis generation in molecular biology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Collaborating to bring new therapies to the patient--the TREAT-NMD model.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

5 July 2018

Biobanking for Europe

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

New sequencing technologies.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Comprehensive catalog of European biobanks

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4124112

29 October 2018

Open to interpretation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25029978

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

International network of cancer genome projects

1 reference

31 March 2022

https://opencitations.net/index/coci/api/v1/citations/10.1038/NATURE08987

The anatomy of a nanopublication

1 reference

COCI

https://opencitations.net/index/coci/api/v1/citations/10.3233/ISU-2010-0613

10.1007/S11606-014-2908-8

13 November 2023

Identifiers

DOI

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference