ArticleNature genetics2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
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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 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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
4 citing papers in PubMed.
- Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.European journal of human genetics : EJHG · 2026Article
- The current state of Spanish language resources for patients in Alabama with rare genetic disease: qualitative expert stakeholder interviews.Journal of community genetics · 2026Article
- Fostering innovation and building youth capacity in global health: design, implementation, and evaluation of a youth-led digital health hackathon.BMC medical education · 2026Article
- Application of genome editing in plant reproductive biology: recent advances and challenges.Plant reproduction · 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
104 authors.
Angelica Maria Delgado-Vega *Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. angelica.delgado.vega@ki.se.ORCID http://orcid.org/0000-0002-9865-0591
Helene Cederroth *Wilhelm Foundation, Brottby, Sweden.ORCID http://orcid.org/0000-0002-5522-3418
Fulya Taylan *Department of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-2907-0235
Katja EkholmDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0009-0005-8231-8876
Marlene EkDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Håkan ThonbergDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Anders JemtScience for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-2219-0197
Daniel NilssonDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Jesper EisfeldtDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Kristine Bilgrav SaetherScience for Life Laboratory, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Ida HöijerDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Ozlem Akgun-DoganDivision of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.
Yui AsanoSwallow Design Studio, Tokyo, Japan.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.ORCID http://orcid.org/0000-0003-1231-1562
Dominyka BatkovskyteDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-0492-1259
Gareth BaynamRare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0003-4920-9553
Olaf BodamerDepartment of Pediatrics, Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.ORCID http://orcid.org/0000-0002-7847-552X
Wanna ChetruengchaiCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Pádraic CorcoranDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Madeline CouseCentre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
Daniel DanisThe Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.ORCID http://orcid.org/0000-0003-0900-3411
German DemidovInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0001-9075-4276
Eisuke DohiNational Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.ORCID http://orcid.org/0000-0002-5365-4900
Mattias ErhardssonDepartment of Medical Biochemistry and Cell Biology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.ORCID http://orcid.org/0000-0002-5631-2033
Luis Fernandez-LunaInternational Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico.
Toyofumi FujiwaraDatabase Center for Life Science, Joint Support-Center for Data Science Research, Research Organization of Information and Systems, Chiba, Japan.
Neha GargInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Roberto GiuglianiCasa dos Raros, Porto Alegre, Brazil.
Claudia Gonzaga-JaureguiInternational Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México (UNAM), Querétaro, Mexico.ORCID http://orcid.org/0000-0002-4667-3679
Giedre GrigelionieneDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-9601-3137
Tudor GrozaRare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.
Cecilia GunnarssonDepartment of Clinical Genetics, Department of Biomedical and Clinical Sciences, Centre for Rare Diseases in Southeast Region of Sweden, Linköping University, Linköping, Sweden.ORCID http://orcid.org/0000-0001-9474-6820
Anna HammarsjöDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Charles Kumi HammondDivision of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.ORCID http://orcid.org/0000-0002-1482-0419
Özden Hatirnaz NgACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.ORCID http://orcid.org/0000-0001-7728-6527
Sirisha HeskethOxford Nanopore Technologies, Oxford, UK.
Dineshani HettiarachchiDepartment of Anatomy, Genetics and Biomedical Informatics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Maria Johansson SollerDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Umn Ahmed KirmaniKarachi Grammar School, Karachi, Pakistan.
Martin KjellbergKTH Royal Institute of Technology, Stockholm, Sweden.ORCID http://orcid.org/0009-0004-4345-1503
Malin KvarnungDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Oleg KvlividzeSchool of Medicine, New Vision University, Tbilisi, Georgia.
Kristina Lagerstedt-RobinsonDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0001-9848-0468
Paul LaskoDepartment of Biology, McGill University, Montreal, Quebec, Canada.ORCID http://orcid.org/0000-0002-4037-3501
Timo LassmannTelethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.ORCID http://orcid.org/0000-0002-0138-2691
Lynette Y S LauGenome Diagnostic, The Hospital for Sick Children, Toronto, Ontario, Canada.
Steven LaurieCentro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.ORCID http://orcid.org/0000-0003-3913-5829
Weng Khong LimSingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.ORCID http://orcid.org/0000-0003-4391-1130
Zhandong LiuBaylor College of Medicine, One Baylor Plaza, Houston, TX, USA.
Mariya Lysenkova WiklanderScience for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-0012-2310
Prince MakayCentre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.
Alassane Baneye MaigaFaculté de Médecine et d'Odontostomatologie, Université des Sciences, des Techniques et des Technologies de Bamako, Bamako, Mali.
Carolina Maya-GonzálezDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
M Stephen MeynCenter for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.
Ramprasad NeethirajScience for Life Laboratory, Department of Microbiology, Tumor and Cell Biology, Karolinska Institutet, Stockholm, Sweden.
Vincenzo NigroDepartment of Precision Medicine, Università della Campania Luigi Vanvitelli, Naples, Italy.
Felix NordgrenDepartment of Management and Engineering, Linköping University, Linköping, Sweden.
Jessica NordlundScience for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0001-8699-9959
Sara OrrsjöDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.ORCID http://orcid.org/0009-0008-9223-3923
Jesper OttossonDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Ugur OzbekACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.ORCID http://orcid.org/0000-0001-5319-0547
Özkan ÖzdemirACURARE, Acibadem University Rare Diseases and Orphan Drugs Application and Research Center, Istanbul, Turkey.
Clyde PartinMedicine, Emory Healthcare, Emory University, Atlanta, GA, USA.ORCID http://orcid.org/0000-0003-3996-9604
David A PearceSanford Research, Sioux Falls, SD, USA.ORCID http://orcid.org/0000-0002-0707-063X
Raquel PeckClarion I, London, UK.
Annie PedersenDepartment of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Maria PetterssonDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Monnat PongpanichDepartment of Mathematics and Computer Science, Faculty of Science, Chulalongkorn University, Bangkok, Thailand.
Manuel Posada de la PazSpainUDP, Rare Diseases Research Institute, Instituto de Salud Carlos III, Madrid, Spain.ORCID http://orcid.org/0000-0002-8372-4180
Arun RamaniInvitae, San Francisco, CA, USA.
Juan Andres RomeroUniversidad San Francisco de Quito, Quito, Ecuador.
Vanessa I RomeroUniversidad San Francisco de Quito, Quito, Ecuador.
Richard RosenquistDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-0211-8788
Aung Min SawThe Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.
Matthew SpencerThe Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.
Eva-Lena StattinDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala University Hospital, Uppsala, Sweden.
Chalurmpon SrichomthongCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Isabel Tapia-PaezDivision of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.ORCID http://orcid.org/0000-0002-0535-4233
Domenica TaruscioNational Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.ORCID http://orcid.org/0000-0001-5403-233X
Julie P TaylorIllumina Inc, San Diego, CA, USA.
Tinatin TkemaladzeDepartment of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.ORCID http://orcid.org/0000-0003-1924-6695
Ian TullyThe Syndrome Without A Name (SWAN) Clinic, University Hospital of Wales, Cardiff, UK.
Zeynep TümerKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID http://orcid.org/0000-0002-4777-5802
Wendy A G van Zelst-StamsDepartment of Human Genetics, Radboud Institute for Health Science, Radboud University Medical Center, Nijmegen, the Netherlands.
Alain VerloesERN-ITHACA European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders.ORCID http://orcid.org/0000-0003-4819-0264
Emma VästervigaBioinformatics and Data Centre, Gothenburg University, Gothenburg, Sweden.
Sailan WangDivision of Dermatology and Venereology, Department of Medicine, Solna, Karolinska Institutet, Stockholm, Sweden.
Rachel YangRare Diseases Center, Zhongshan Hospital, Fudan University, Shanghai, China.ORCID http://orcid.org/0009-0009-4487-6390
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.ORCID http://orcid.org/0000-0003-2172-8036
Vicente A YépezSchool of Computation, Information and Technology, Technical University of Munich, Garching, Germany.ORCID http://orcid.org/0000-0001-7916-3643
Qing ZhangIllumina Inc, San Diego, CA, USA.
Vorasuk ShotelersukCenter of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.ORCID http://orcid.org/0000-0002-1856-0589
Samuel Agyei WiafeRare Disease Ghana Initiative, Accra, Ghana.
Yasemin AlanayDivision of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Turkey.
Lorenzo D BottoDivision of Medical Genetics, Dept of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Salman KirmaniDivision of Women & Child Health, Aga Khan University, Karachi, Pakistan.
Aimé LumakaCentre for Human Genetics, University of Kinshasa, Kinshasa, DR, Congo.ORCID http://orcid.org/0000-0002-5468-8678
Elizabeth Emma PalmerDiscipline of Paediatrics and Child Health, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.ORCID http://orcid.org/0000-0003-1844-215X
Ratna Dua PuriInstitute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.ORCID http://orcid.org/0000-0003-2694-6147
Valtteri WirtaDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.
Anna LindstrandDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden.ORCID http://orcid.org/0000-0003-0806-5602
Orion J BuskePhenoTips, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-9064-092X
Mikk CederrothWilhelm Foundation, Brottby, Sweden.
Ann NordgrenDepartment of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden. ann.nordgren@ki.se.ORCID http://orcid.org/0000-0003-3285-4281
Funding
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4MClinical and genetic studies of hereditary neurological disorders in MaliU01HG007044 · NHGRI · UNIV OF SCIENCES, TECH & TECH OF BAMAKO · PI LANDOURE, GUIDA · 2013 to 2022
$3.1MAfrican Rare Diseases Initiative (ARDI): Advancing Genomic Medicine through rare diseases research in AfricaR01HG012284 · NHGRI · CENTRE DE GENETIQUE HUMAINE · PI AIME LUMAKA ZOLA · 2023 to 2026
$2.5MGenetics of Epilepsy in Mali (GENEP-Mali)R01NS118522 · NINDS · UNIV OF SCIENCES, TECH & TECH OF BAMAKO · PI LAKHANI, SAQUIB A, LANDOURE, GUIDA · 2021 to 2025
$2.4MNHGRI NIH HHS R01 HG012284NHGRI NIH HHS U01 HG007044NICHD NIH HHS P50 HD105351NINDS NIH HHS R01 NS118522
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