Evidence map›Paper›PMID 36092952›Full record

ArticleHGG advances2022

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.

C Alejandra Morato Torres, Faria Zafar, Yu-Chih Tsai, Jocelyn Palafox Vazquez, Michael D Gallagher, Ian McLaughlin, Karl Hong, Jill Lai, Joyce Lee, Amanda Chirino-Perez and 7 more

Open access · goldAbstract read
In one paragraph

Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
2.9field-weighted citation impact, top 8% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 30 citations in OpenAlex.

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  7. Exploration of Neurodegenerative Diseases Using Long-Read Sequencing and Optical Genome Mapping Technologies.Movement disorders : official journal of the Movement Disorder Society · 2025
    Review
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 6 institutions in 2 countries.

C Alejandra Morato TorresDepartment Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Faria ZafarDepartment Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Yu-Chih TsaiPacific Biosciences of California, Inc., Menlo Park, CA 94025, USA.
Jocelyn Palafox VazquezDepartment Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Michael D GallagherBionano Genomics, San Diego, CA 92121, USA.
Ian McLaughlinPacific Biosciences of California, Inc., Menlo Park, CA 94025, USA.
Karl HongBionano Genomics, San Diego, CA 92121, USA.
Jill LaiBionano Genomics, San Diego, CA 92121, USA.
Joyce LeeBionano Genomics, San Diego, CA 92121, USA.
Amanda Chirino-PerezLaboratorio de Neuropsicología, Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, CDMX 04510, Mexico.
Angel Omar Romero-MolinaLaboratorio de Neuropsicología, Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, CDMX 04510, Mexico.
Francisco TorresSouthern California Permanente Medical Group, Oxnard, CA 93036, USA.
Juan Fernandez-RuizLaboratorio de Neuropsicología, Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, CDMX 04510, Mexico.
Tetsuo AshizawaDepartment Neurology, Houston Methodist Research Institute, Houston, TX 77030, USA.
Janet ZieglePacific Biosciences of California, Inc., Menlo Park, CA 94025, USA.
Francisco Javier Jiménez GilHospital San Javier S.A. de C.V., Guadalajara, Jalisco 44670, Mexico.
Birgitt SchüleDepartment Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA.
BioNano Genomics (United States) · USStanford University · USPacific Biosciences (United States) · USUniversidad Nacional Autónoma de México · MXHospital Civil de Guadalajara · MXHouston Methodist · US

Funding

Genetic mechanism of conserved ancestral haplotype in SCA10R01NS115002 · NINDS · METHODIST HOSPITAL RESEARCH INSTITUTE · PI ASHIZAWA, TETSUO, JARDIM, LAURA B · 2020 to 2023
$637k
NINDS NIH HHS R01 NS115002
6 · The paper itself

Abstract

Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by an expanded pentanucleotide repeat in the

Indexed as

amplification-free targeted sequencingATAXIN10ATXN10long-read sequencingoptical genome mappingpenetranceSCA10spinocerebellar ataxia type 10

Identifiers

PMID36092952
PMCPMC9460507
OpenAlexW4291594779

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.