In one paragraphArticle in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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What it found
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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.
2 · The registryThe 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.
3 · Its place in the literatureWho cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
23 authors.
Abraham MollerCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Kensuke DaidaLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9177-9587 Pilar Alvarez JerezCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5812-1898 Zhongbo ChenDepartment of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-6668-7202 Zachary B AndersonDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Mariam IsayanDepartment of Neurology and Neurosurgery, National Institute of Health, Yerevan, Armenia.ORCID 0009-0002-2387-5347 Kimberly PaquetteCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-3989-4614 Sophia B GibsonDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.ORCID 0000-0001-9839-9045 Madison FulcherLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.
Abigail Miano-BurkhardtLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-0447-4698 Laksh MalikCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-2498-146X Breeana BakerCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0006-0193-6558 Paige JarreauCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Henry HouldenDepartment of Neuromuscular Disease, Queen Square Institute of Neurology, UCL, London, UK.ORCID 0000-0002-2866-7777 Mina RytenDepartment of Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, UCL, London, UK.ORCID 0000-0001-9520-6957 Bida GuDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.ORCID 0000-0001-8575-997X Mark Jp ChaissonDepartment of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.ORCID 0000-0001-5395-1457 Danny E MillerDepartment of Genome Sciences, University of Washington, Seattle, Washington 98195, USA.ORCID 0000-0001-6096-8601 Pedro Chaná-CuevasCentro de Trastornos del Movimiento, Facultad de Ciencias M' edicas, Universidad de Santiago de Chile, Santiago, Chile.ORCID 0000-0001-9946-3299 Cornelis BlauwendraatCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-9358-8111 Andrew B SingletonCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-5606-700X Kimberley J BillingsleyCenter for Alzheimer's and Related Dementias, National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-8003-4029 Funding
Long-read DNA sequencing of Alzheimers Disease and Related Dementias casesZIAAG000538 · NIA · NATIONAL INSTITUTE ON AGING · PI COOKSON, MARK · 2020 to 2025
$39.6MTISSUE REPOSITORY COREP01AG000538 · NIA · UNIVERSITY OF CALIFORNIA-IRVINE · PI COTMAN, CARL WAYNE · 1985 to 2018
$24.8MINTERDISCIPLINARY TRAINING IN GENOMIC SCIENCEST32HG000035 · NHGRI · UNIVERSITY OF WASHINGTON · PI Bruce Colston Trapnell · 1995 to 2026
$24.2MGenetic characterization of atypical parkinsonismZIANS003154 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI SCHOLZ, SONJA · 2016 to 2025
$15.4MDetection and genotyping complex human genetic variation using single-molecule sequencingR01HG011649 · NHGRI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Mark Chaisson · 2021 to 2026
$2.5MLong-read DNA and RNA sequencing to identify disease-causing genetic variation and streamline testingDP5OD033357 · OD · UNIVERSITY OF WASHINGTON · PI MILLER, DANNY ERWIN · 2022 to 2025
$1.9MIntramural NIH HHS ZIA AG000538Intramural NIH HHS ZIA NS003154NHGRI NIH HHS R01 HG011649NHGRI NIH HHS T32 HG000035NIA NIH HHS P01 AG000538NIH HHS DP5 OD033357Wellcome Trust
6 · The paper itselfAbstract
Background: Hereditary ataxias are genetically diverse, yet up to 75% remain undiagnosed due to technological and financial barriers. A pathogenic Methods: We performed Oxford Nanopore Technologies (ONT) genome long-read sequencing (>115 GB per sample) on a total of 15 individuals from Chile; 14 patients with suspected hereditary movement disorders and one unrelated family member. Variants were identified using PEPPER-Margin-DeepVariant 0.8 (SNVs), Sniffles 2.4 (SVs), and Vamos 2.1.3 (STRs). Ancestry was inferred using GenoTools with reference data from the 1000 Genomes Project, Human Genome Diversity Project, and an Ashkenazi Jewish panel. Haplotype analysis was conducted by phasing SNVs within Results: We identified Conclusion: This is the first report of SCA4 outside Northern Europe, confirming a shared founder haplotype and expansion instability. The presence of parkinsonism broadens the clinical spectrum. Comprehensive genetic testing across diverse populations is crucial, and long-read sequencing enhances diagnostic yield by detecting repeat expansions and SNVs in a single assay.
Identifiers
PMID40166539
PMCPMC11957069
What Socratic holds
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