ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2021
An online compendium of treatable genetic disorders.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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
45 citing papers in PubMed.
- Healthcare professionals' views on expanding newborn screening with or without genomics in France: Results of the SeDeN-p2 study.European journal of human genetics : EJHG · 2026Article
- Reducing the diagnostic odyssey in rare disease: why screening is not the only answer.Nature medicine · 2026Article
- Perspectives on genomic newborn screening studies: design, implementation, and outcomes.Pediatric research · 2026Review
- Mapping the landscape of treatable inborn errors of metabolism: a systematic gene-level evaluation based on the ICIMD classification.Orphanet journal of rare diseases · 2026Article
- Genomic sequencing and the urgency of early diagnosis in inborn errors of metabolism.Pediatric research · 2026Article
- Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication.Annals of the Child Neurology Society · 2026Article
- Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Trigger points of palliative care assessment in inherited metabolic diseases.Orphanet journal of rare diseases · 2025Review
- Article
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population.American journal of human genetics · 2025Article
- The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening.Journal of community genetics · 2025Article
- Adult genomic medicine: lessons from a multisite study of 2700 patients.Genome medicine · 2025Article
- Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025Review
- Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project.Orphanet journal of rare diseases · 2025Article
- Promises and challenges of genomic newborn screening (NBS) - lessons from public health NBS programs.Pediatric research · 2025Review
- Universal newborn screening using genome sequencing: early experience from the GUARDIAN study.Pediatric research · 2025Review
- Breaking barriers: fostering equitable access to pediatric genomics through innovative care models and technologies.Pediatric research · 2025Review
- International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.NPJ genomic medicine · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
More than 4,000 genes have been associated with recognizable Mendelian/monogenic diseases. When faced with a new diagnosis of a rare genetic disorder, health care providers increasingly turn to internet resources for information to understand the disease and direct care. Unfortunately, it can be challenging to find information concerning treatment for rare diseases as key details are scattered across a number of authoritative websites and numerous journal articles. The website and associated mobile device application described in this article begin to address this challenge by providing a convenient, readily available starting point to find treatment information. The site, Rx-genes.com (https://www.rx-genes.com/), is focused on those conditions where the treatment is directed against the mechanism of the disease and thereby alters the natural history of the disease. The website currently contains 633 disease entries that include references to disease information and treatment guidance, a brief summary of treatments, the inheritance pattern, a disease frequency (if known), nonmolecular confirmatory testing (if available), and a link to experimental treatments. Existing entries are continuously updated, and new entries are added as novel treatments appear in the literature.
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What 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.