Research graph
References from Caring for Rare Genetic Disease: A Vision for the Future. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1016/j.ymgme.2024.108453
10.1016/j.ymgme.2024.108453 · External reference
10.1111/ahg.70008
10.1111/ahg.70008 · External reference
10.1080/15265161.2026.2645618
10.1080/15265161.2026.2645618 · External reference
10.4045/tidsskr.24.0019
10.4045/tidsskr.24.0019 · External reference
10.1136/medethics‐2013‐101887
10.1136/medethics‐2013‐101887 · External reference
10.1002/jgc4.70102
10.1002/jgc4.70102 · External reference
10.1136/jmedgenet‐2019‐106292
10.1136/jmedgenet‐2019‐106292 · External reference
10.1038/s41436‐020‐0817‐2
10.1038/s41436‐020‐0817‐2 · External reference
Telehealth for Rare Disease Care, Research, and Education Across the Globe: A Review of the Literature by the IRDiRC Telehealth Task Force
10.1016/j.ejmg.2024.104977 · 2024 · External reference
10.1038/s41586‐024‐07773‐7
10.1038/s41586‐024‐07773‐7 · External reference
10.1016/j.gim.2023.100896
10.1016/j.gim.2023.100896 · External reference
Unresolved reference
2020 · External reference
10.1016/j.gimo.2024.101864
10.1016/j.gimo.2024.101864 · External reference
Towards a National Genomics Medicine Service: The Challenges Facing Clinical‐Research Hybrid Practices and the Case of the 100 000 Genomes Project
10.1136/medethics-2017-104588 · 2018 · External reference
Ethical Considerations in Gene Selection for Reproductive Carrier Screening
10.1007/s00439-021-02341-9 · 2022 · External reference
10.1136/archdischild‐2012‐302125
10.1136/archdischild‐2012‐302125 · External reference
10.1111/cge.14027
10.1111/cge.14027 · External reference
The burden of cystic fibrosis in North Africa
10.3389/fgene.2023.1295008 · 2023 · External reference
Can ChatGPT understand genetics?
10.1038/s41431-023-01419-4 · 2024 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
10.1038/s41431‐024‐01604‐z
10.1038/s41431‐024‐01604‐z · External reference
The Burden of Rare Diseases
10.1002/ajmg.a.61124 · 2019 · External reference
10.3389/fgene.2023.1282034
10.3389/fgene.2023.1282034 · External reference
The ethics of genomic medicine: redefining values and norms in the UK and France
10.1038/s41431-020-00798-2 · 2021 · External reference
Unresolved reference
External reference
10.1038/s41591‐025‐04061‐3
10.1038/s41591‐025‐04061‐3 · External reference
The Disequilibrium of Hope: A Grounded Theory Analysis of parents' Experiences of Receiving a “no Primary Finding” Result From Genome Sequencing
10.1002/jgc4.1818 · 2024 · External reference
Research or Clinical Care: what's the Difference?
10.1136/medethics-2018-104926 · 2018 · External reference
The UBE3A‐ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial
10.1038/s41591-025-03784-7 · 2025 · External reference
The Value of Large‐Scale Programmes in Human Genomics
10.1038/s41431-025-01844-7 · 2025 · External reference
Managing Expectations, Rights, and Duties in Large‐Scale Genomics Initiatives: A European Comparison
10.1038/s41431-022-01247-y · 2023 · External reference
10.1002/ajmg.a.38413
10.1002/ajmg.a.38413 · External reference
Genomic Reanalysis of a Pan‐European Rare‐Disease Resource Yields New Diagnoses
10.1038/s41591-024-03420-w · 2025 · External reference
10.1007/s12687‐026‐00891‐x
10.1007/s12687‐026‐00891‐x · External reference
10.1038/s41525‐021‐00256‐y
10.1038/s41525‐021‐00256‐y · External reference
10.1002/jcph.2134
10.1002/jcph.2134 · External reference
10.1016/j.abd.2019.09.023
10.1016/j.abd.2019.09.023 · External reference
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External reference
10.1016/j.pec.2020.09.029
10.1016/j.pec.2020.09.029 · External reference
10.1186/s13023‐024‐03058‐4
10.1186/s13023‐024‐03058‐4 · External reference
Unresolved reference
External reference
Unresolved reference
External reference
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
10.1038/s41431-019-0508-0 · 2020 · External reference
10.1177/26330040231164425
10.1177/26330040231164425 · External reference
Erasing Stigma Around Rare Diseases
10.1016/s2214-109x(24)00219-5 · 2024 · External reference
Challenges for Precision Public Health Communication in the Era of Genomic Medicine
10.1016/j.gim.2022.05.010 · 2022 · External reference
Unresolved reference
External reference
10.1038/gim.2015.30
10.1038/gim.2015.30 · External reference
Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders
10.1007/s10897-016-9933-1 · 2016 · External reference
Unresolved reference
2019 · External reference
Advancing Understanding of Inequities in Rare Disease Genomics
10.1016/j.clinthera.2023.06.010 · 2023 · External reference
Expanded Carrier Screening and the Complexity of Implementation
10.1097/aog.0000000000004229 · 2021 · External reference
100,000 Genomes Pilot on Rare‐Disease Diagnosis in Health Care ‐ Preliminary Report
10.1056/nejmoa2035790 · 2021 · External reference
National Genome Initiatives in Europe and the United Kingdom in the Era of Whole‐Genome Sequencing: A Comprehensive Review
10.3390/genes13030556 · 2022 · External reference
10.1086/340847
10.1086/340847 · External reference
10.1038/sj.ejhg.5201260
10.1038/sj.ejhg.5201260 · External reference
The Role of the European Society of Human Genetics in Delivering Genomic Education
10.3389/fgene.2021.693952 · 2021 · External reference
Unresolved reference
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Unresolved reference
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10.1038/s41576‐022‐00455‐y
10.1038/s41576‐022‐00455‐y · External reference
10.1080/15265161.2025.2475015
10.1080/15265161.2025.2475015 · External reference
Hope, Expectations and Recovery From Illness: A Narrative Synthesis of Qualitative Research
10.1111/j.1365-2648.2008.04815.x · 2008 · External reference
10.1016/j.ajhg.2023.06.009
10.1016/j.ajhg.2023.06.009 · External reference
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
10.1056/nejmoa2209046 · 2023 · External reference
The Solve‐RD Solvathons as a pan‐European interdisciplinary collaboration to diagnose patients with rare disease
10.1038/s41588-025-02290-3 · 2025 · External reference
Uncertainties of Healthcare Professionals and Informal Caregivers in Rare Diseases: A Systematic Review
10.1016/j.heliyon.2024.e38677 · 2024 · External reference
