ArticleNature genetics2024
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples.
Open access · greenAbstract read
In one paragraph
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
7.2field-weighted citation impact, top 3% of its field
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
11 citing papers in PubMed, 13 citations in OpenAlex.
- Lived experiences in rare genetic diseases: a narrative synthesis of 317 qualitative studies (2004-2024).European journal of human genetics : EJHG · 2026Review
- Data visiting governance: a conceptual framework.Human genomics · 2025Review
- Communicating clearly about data sharing in genomics.Human genomics · 2025Review
- Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia.American journal of human genetics · 2025Article
- Unlocking the Mysteries of Rare Disease Drug Development: A Beginner's Guide for Clinical Pharmacologists.Clinical and translational science · 2025Review
- The multigenerational impact of long QT syndrome: A Gitxsan perspective.Journal of genetic counseling · 2025Article
- A call to action to scale up research and clinical genomic data sharing.Nature reviews. Genetics · 2025Review
- Determinants of orphan drug health technology assessment in South Korea: an empirical analysis.Frontiers in pharmacology · 2025Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Promoting equity in polygenic risk assessment through global collaboration.Nature genetics · 2024Review
- Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical Trials.Pharmaceutical medicine · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 18 institutions in 10 countries.
Gareth BaynamRare Care Centre and Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia. gareth.baynam@health.wa.gov.au.ORCID 0000-0003-4920-9553
Daria JulkowskaIRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France.
Sarah BowdinDepartment of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Azure HermesNational Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia.
Christopher R McMasterDepartment of Pharmacology, Dalhousie University, Halifax, Nova Scotia, Canada.ORCID 0000-0003-0822-5776
Elissa PrichepPlatform on Shaping the Future of Health and Healthcare, World Economic Forum, New York, NY, USA.
Étienne RicherInstitute of Genetics, Canadian Institutes of Health Research, Halifax, Nova Scotia, Canada.ORCID 0000-0002-5814-5777
Francois H van der WesthuizenHuman Metabolomics, North-West University, Potchefstroom, South Africa.ORCID 0000-0002-7879-1776
Gabriela M RepettoFacultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Helen MalherbeDepartment of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa.ORCID 0000-0002-9566-6248
Juergen K V ReichardtAustralian Institute of Tropical Health and Medicine, James Cook University, Smithfield, Queensland, Australia.
Laura ArbourDepartment of Medical Genetics, University of British Columbia, Victoria, British Columbia, Canada.
Maui HudsonFaculty of Maori and Indigenous Studies, University of Waikato, Hamilton, New Zealand.
Kelly du PlessisRare Diseases South Africa, Johannesburg, South Africa.
Melissa HaendelOregon Clinical and Translational Research Institute, Oregon Health and Science University, Portland, OR, USA.ORCID 0000-0001-9114-8737
Phillip WilcoxDepartment of Mathematics and Statistics, University of Otago, Dunedin, New Zealand.
Sally Ann LynchNational Rare Disease Office, Mater Misericordiae University Hospital, Dublin, Ireland.
Shamir RindWestern Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.
Simon EastealNational Centre for Indigenous Genomics, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID 0000-0002-0462-502X
Xavier EstivillQuantitative Genomics Medicine Laboratories (qgenomics), Esplugues de Llobregat, Barcelona, Spain.ORCID 0000-0002-0723-2256
Nadine CaronUBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada.
Meck ChongoUBC Centre for Excellence in Indigenous Health, Vancouver, British Columbia, Canada.
Yarlalu ThomasWestern Australian Register of Developmental Anomalies, Perth, Western Australia, Australia.
Mary Catherine V LetinturierIRDiRC Scientific Secretariat, French National Institute of Health and Medical Research (Inserm), Paris, France.ORCID 0000-0003-4387-6312
Barend Christiaan VorsterCentre for Human Metabolomics, North-West University, Capetown, South Africa.ORCID 0000-0003-2371-288X
Australian National University · AUGovernment of Western Australia · AUInserm · FRNorth-West University · ZAAddenbrooke's Hospital · GBAustralian Institute of Tropical Health and Medicine · AUCanadian Institutes of Health Research · CADalhousie University · CAOregon Health & Science University · USOryzon Genomics (Spain) · ESThe Kids Research Institute Australia · AUUniversidad del Desarrollo · CLUniversity College Dublin · IEUniversity of British Columbia · CAUniversity of Northern British Columbia · CAUniversity of Otago · NZUniversity of Pretoria · ZAUniversity of Waikato · NZ
Funding
The Monarch Initiative: Linking Diseases to Model Organism ResourcesR24OD011883 · OD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2012 to 2024
$16.0MImprovements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3MThe Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7MNHGRI NIH HHS RM1 HG010860NHGRI NIH HHS U24 HG011449NIH HHS R24 OD011883
Abstract
PubMed holds no abstract for this paper.
Indexed as
Indigenous PeoplesRare DiseasesHumans
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
None linked
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.