ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Opportunities for a national genomic data governance framework in Australia: a systematic review.BMC medical ethics · 2025Pooled it
- Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.HGG advances · 2026Article
- Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Nature communications · 2025Article
- Exploring the connection between RNA splicing and intellectual disability.Current opinion in genetics & development · 2025Review
- Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.Human mutation · 2022Article
- PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.Orphanet journal of rare diseases · 2021Article
- Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical utility of genomic sequencing.Current opinion in pediatrics · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeExome sequencing (ES) powerfully identifies the molecular bases of heterogeneous conditions such as intellectual disability and/or multiple congenital anomalies (ID/MCA). Current ES analysis, combining diagnosis analysis restricted to disease-causing genes reported in OMIM database and subsequent research investigation extended to other genes, indicated causal and candidate genes around 40% and 10%. Nonconclusive results are frequent in such ultrarare conditions that recurrence and genotype-phenotype correlations are limited. International data-sharing permits the gathering of additional patients carrying variants in the same gene to draw definitive conclusions on their implication as disease causing. Several web-based tools have been developed and grouped in Matchmaker Exchange. In this study, we report our current experience as a regional center that has implemented ES as a first-line diagnostic test since 2013, working with a research laboratory devoted to disease gene identification.
methodsWe used GeneMatcher over 2.5 years to share 71 novel candidate genes identified by ES.
resultsMatches occurred in 60/71 candidate genes allowing to confirm the implication of 39% of matched genes as causal and to rule out 6% of them.
conclusionThe introduction of user-friendly gene-matching tools, such as GeneMatcher, appeared to be an essential step for the rapid identification of novel disease genes responsible for ID/MCA.
Indexed as
Identifiers
30563986What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.