ArticleNature genetics2020
A call for global action for rare diseases in Africa.
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Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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26citing papers in PubMed, 1 pooled it
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Children with a rare congenital genetic disorder: a systematic review of parent experiences.Orphanet journal of rare diseases · 2022Pooled it
- Early identification of Prader-Willi syndrome in newborns using facial phenotype-based machine learning.Pediatric research · 2026Article
- Coping with the challenges of caregiving: A qualitative exploration of the experiences of family caregivers of children with rare diseases in South Africa.Journal of genetic counseling · 2026Article
- The role of public health in rare diseases: hemophilia as an example.Frontiers in public health · 2025Review
- Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa.European journal of human genetics : EJHG · 2024Article
- Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International.NPJ genomic medicine · 2024Review
- A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environments.Journal of community genetics · 2024Article
- Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.Human mutation · 2024Article
- Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.International journal of environmental research and public health · 2023Review
- The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.International journal of environmental research and public health · 2023Article
- The burden of cystic fibrosis in North Africa.Frontiers in genetics · 2023Review
- Policy analysis in the field of rare diseases in China: a combined study of content analysis and Bibliometrics analysis.Frontiers in medicine · 2023Article
- Artificial intelligence and database for NGS-based diagnosis in rare disease.Frontiers in genetics · 2023Review
- The implementation and utility of clinical exome sequencing in a South African infant cohort.Frontiers in genetics · 2023Article
- Rare disease education in Europe and beyond: time to act.Orphanet journal of rare diseases · 2022Article
- Reducing global health inequalities for a rare disorder: evaluating the international Prader-Willi Syndrome Organisation's EchoOrphanet journal of rare diseases · 2022Article
- Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases.Orphanet journal of rare diseases · 2022Article
- Importance of Including Non-European Populations in Large Human Genetic Studies to Enhance Precision Medicine.Annual review of biomedical data science · 2022Review
- Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.Orphanet journal of rare diseases · 2022Article
- Knowledge-based approaches to drug discovery for rare diseases.Drug discovery today · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
50 authors.
Gareth S BaynamGenetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0003-4920-9553
Stephen GroftNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Francois H van der WesthuizenMitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za.ORCID http://orcid.org/0000-0002-7879-1776
Safiyya D GassmanCorporate Affairs Rare Disease, Pfizer USA, New York, NY, USA.ORCID http://orcid.org/0000-0002-9280-174X
Kelly du PlessisRare Diseases South Africa, Johannesburg, South Africa.
Emily P ColesOffice of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
Eda SelebatsoBotswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
Moses SelebatsoBotswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
Boikobo GaobinelweBotswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
Tebogo SelebatsoBotswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
Dipesalema JoelDepartment of Pediatric and Adolescent Medicine, Faculty of Medicine, University of Botswana School of Medicine, Botswana-Baylor Children's Clinical Centre of Excellence and Princess Marina Hospital, Gaborone, Botswana.
Virginia A LleraGEISER Foundation, Mendoza, Argentina.
Barend C VorsterLaboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa.ORCID http://orcid.org/0000-0003-2371-288X
Barbara WuebbelsProfessional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA.
Benjamin DjoudalbayeAfrica Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia.
Christopher P AustinNational Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
Judit KumuthiniCentre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa.
John FormanUnaffiliated rare-disease advocate, Wellington, New Zealand.
Petra KaufmannAveXis, San Diego, CA, USA.
James ChipetaUniversity of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia.
Désirée GavhedDepartment of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, and Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-3849-9268
Annika LarssonRegional Cancer Center Uppsala Örebro, Uppsala, Sweden.
Maja StojiljkovicLaboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
Ann NordgrenDepartment of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-3285-4281
Emilio J A RoldanInnovation Division, GADOR SA, Buenos Aires, Argentina.
Domenica TaruscioNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
Durhane Wong-RiegerCanadian Organization for Rare Disorders, Toronto, Ontario, Canada.
Kristen NowakOffice of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
Gemma A BilkeyOffice of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
Simon EastealJohn Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.ORCID http://orcid.org/0000-0002-0462-502X
Sarah BowdinCambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
Juergen K V ReichardtAustralian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia.
Sergi BeltranCentro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.
Kenjiro KosakiCenter for Medical Genetics, Keio University, Tokyo, Japan.
Clara D M van KarnebeekDepartments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.
Mengchun GongNational Rare Diseases Registry System of China (NRDRS), Beijing, China.ORCID http://orcid.org/0000-0001-8197-6643
Zhang ShuyangPeking Union Medical College Hospital, Beijing, China.
Ruty Mehrian-ShaiPediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel.
David R AdamsUndiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.ORCID http://orcid.org/0000-0002-6660-1242
Ratna D PuriInstitute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Feng ZhangSeekIn. Inc., Yantian, Shenzhen, Guangdong, China.
Nicholas PachterGenetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
Maximilian MuenkeMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
Christoffer NellakerNuffield Department of Women's and Reproductive Health, University of Oxford, and Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
William A GahlNational Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
Helene CederrothWilhelm Foundation, Sandbacken, Brottby, Sweden.ORCID http://orcid.org/0000-0002-5522-3418
Stephanie BroleyGenetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
Maryke SchoonenMitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.ORCID http://orcid.org/0000-0001-6762-2232
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Manuel PosadaInstituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.ORCID http://orcid.org/0000-0002-8372-4180
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MMedical Research Council MR/M014568/1
Abstract
PubMed holds no abstract for this paper.
Indexed as
Global HealthHealth PlanningHealth PromotionInternational CooperationAfricaHumansRare Diseases
Identifiers
PMID
31873296What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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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.