ArticleHuman mutation2015
The Matchmaker Exchange: a platform for rare disease gene discovery.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 313 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
313 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.The Journal of allergy and clinical immunology · 2022Pooled it
- MAGEL2-related disorders: A study and case series.Clinical genetics · 2019Pooled it
- Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.Communications medicine · 2026Review
- A Middle East collaborative for undiagnosed diseases.Nature reviews. Genetics · 2026Article
- Arriving at a diagnosis: Effective strategies used by the Undiagnosed Diseases Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.Nature reviews. Nephrology · 2026Review
- Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa.medRxiv : the preprint server for health sciences · 2026Article
- PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research.European journal of human genetics : EJHG · 2026Article
- Reframing AI for Rare Disease Recognition.Research square · 2026Article
- WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases.Genome medicine · 2026Article
- GEN-KnowRD: Reframing AI for Rare Disease Recognition.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Clinical,medRxiv : the preprint server for health sciences · 2026Article
- SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.Human molecular genetics · 2026Article
- Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations.medRxiv : the preprint server for health sciences · 2026Article
- Histone acetylation and methylation in rare diseases: from molecular mechanisms to clinical presentations.Frontiers in cell and developmental biology · 2026Review
253 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors.
Funding
Abstract
There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can "match" these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.
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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.