ArticleCold Spring Harbor molecular case studies2022
2022: a pivotal year for diagnosis and treatment of rare genetic diseases.
Article in Cold Spring Harbor molecular case studies, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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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.
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Who cites it
10 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
- Regional Barriers to Advancing Genetic Medicine in Japan: Insights from a Shizuoka Prefecture Survey.JMA journal · 2026Article
- Clinical Exome Sequencing in Pediatric Patients.Cureus · 2025Article
- Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.Journal of medical genetics · 2024Article
- De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.European journal of human genetics : EJHG · 2024Article
- Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.Clinical genetics · 2024Article
- Article
- A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates.Nature medicine · 2023Article
- Integrated multi-omics for rapid rare disease diagnosis on a national scale.Nature medicine · 2023Article
- aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.Computational and structural biotechnology journal · 2023Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation.
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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.