Evidence map›Paper›PMID 41279153›Full record

ArticlebioRxiv : the preprint server for biology2025

Genome writing to dissect consequences of SVA retrotransposon disease X-Linked Dystonia Parkinsonism.

Weimin Zhang, Yu Zhao, Priya Prakash, Heather L Appleby, Kelly Barriball, Simona Capponi, Qingwen Jiang, Aleksandra M Wudzinska, Christine A Vaine, Gwen Ellis and 12 more

Abstract readPreprint
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

22 authors.

Weimin ZhangInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.ORCID 0000-0002-8836-1438
Yu ZhaoInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.
Priya PrakashInstitute for Translational Neuroscience and Department of Neuroscience, NYU Langone Health, New York, NY, USA.
Heather L ApplebyInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.
Kelly BarriballInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.
Simona CapponiGerman Cancer Consortium (DKTK), Partner Site Freiburg, German Cancer Research Center (DKFZ), Department of Urology, Medical Center-University of Freiburg, Germany.
Qingwen JiangMolecular Pharmacology Program, Sloan Kettering Institute, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Aleksandra M WudzinskaInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.
Christine A VaineDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Gwen EllisInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.
Neha RahmanDepartment of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, & Center for Advanced Imaging Innovation and Research and Preclinical Imaging, Division for Advanced Research Technologies, NYU Grossman School of Medicine/NYU Langone Health, New York, NY, USA.
Stefan MarkovicDepartment of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, & Center for Advanced Imaging Innovation and Research and Preclinical Imaging, Division for Advanced Research Technologies, NYU Grossman School of Medicine/NYU Langone Health, New York, NY, USA.
Orin MishkitDepartment of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, & Center for Advanced Imaging Innovation and Research and Preclinical Imaging, Division for Advanced Research Technologies, NYU Grossman School of Medicine/NYU Langone Health, New York, NY, USA.
Kerry C LimbergInstitute for Translational Neuroscience and Department of Neuroscience, NYU Langone Health, New York, NY, USA.
Matthew T MauranoInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.ORCID 0000-0002-2218-8628
Youssef Z WadghiriDepartment of Radiology, Bernard and Irene Schwartz Center for Biomedical Imaging, & Center for Advanced Imaging Innovation and Research and Preclinical Imaging, Division for Advanced Research Technologies, NYU Grossman School of Medicine/NYU Langone Health, New York, NY, USA.
Sang Yong KimDepartment of Pathology, NYU Langone Health, New York, NY, USA.
H T Marc TimmersGerman Cancer Consortium (DKTK), Partner Site Freiburg, German Cancer Research Center (DKFZ), Department of Urology, Medical Center-University of Freiburg, Germany.
D Cristopher BraggDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Shane A LiddelowInstitute for Translational Neuroscience and Department of Neuroscience, NYU Langone Health, New York, NY, USA.ORCID 0000-0002-0840-1437
Ran BroshInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.
Jef D BoekeInstitute for Systems Genetics, NYU Langone Health, New York, NY, USA.ORCID 0000-0001-5322-4946

Funding

Vaccine FacilityP30CA016087 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI MARK Reid PHILIPS · 1985 to 2026
$83.1M
Supplement for Center for Synthetic Regulatory Genomics: Building CACNA1C alleles associated with Neuropsychiatric DisordersRM1HG009491 · NHGRI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Jef D BOEKE · 2018 to 2026
$20.9M
TR&D 4: Revealing Microstructure: Biophysical modeling and validation for discovery and clinical careP41EB017183 · NIBIB · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI Daniel K Sodickson · 2014 to 2026
$19.3M
7T Small Animal MRI Scanner Replacement for Translational Imaging ResourceS10OD018337 · OD · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI BOADA, FERNANDO E · 2014 to 2014
$2.0M
NCI NIH HHS P30 CA016087NHGRI NIH HHS RM1 HG009491NIBIB NIH HHS P41 EB017183NIH HHS S10 OD018337
6 · The paper itself

Abstract

Human retrotransposon insertions are often associated with diseases. In the case of the neurodegenerative X-Linked Dystonia-Parkinsonism disease, a human-specific SINE-VNTR-

Indexed as

Genome writingstriatum atrophySVA retrotransposontranscriptionX-Linked Dystonia Parkinsonism

Identifiers

PMID41279153
PMCPMC12632633

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.