Evidence map›Paper›PMID 41951733›Full record

ArticleNature2026

Population-scale repeat expansions elucidate disease risk and brain atrophy.

Vijay Kumar Pounraja, Jae Hoon Sul, Joseph Herman, Sean O'Keeffe, Veera Rajagopal, Xiaodong Bai, Michael D Kessler, Neelroop Parikshak, Karl Landheer, Xingmin Zhang and 25 more

Abstract read
In one paragraph

Article in Nature, 2026. 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
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

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Myotonic dystrophy family registry. The patient experience.Journal of neuromuscular diseases · 2026
    Article
  4. Article
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

35 authors.

Vijay Kumar PounrajaRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-9710-189X
Jae Hoon SulRegeneron Genetics Center, Tarrytown, NY, USA.
Joseph HermanRegeneron Genetics Center, Tarrytown, NY, USA.
Sean O'KeeffeRegeneron Genetics Center, Tarrytown, NY, USA.
Veera RajagopalRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-5236-168X
Xiaodong BaiRegeneron Genetics Center, Tarrytown, NY, USA.
Michael D KesslerRegeneron Genetics Center, Tarrytown, NY, USA.
Neelroop ParikshakRegeneron Genetics Center, Tarrytown, NY, USA.
Karl LandheerRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-5012-3007
Xingmin ZhangRegeneron Genetics Center, Tarrytown, NY, USA.
Sean YuRegeneron Genetics Center, Tarrytown, NY, USA.
Lance ZhangRegeneron Genetics Center, Tarrytown, NY, USA.
Michelle G LeBlancRegeneron Genetics Center, Tarrytown, NY, USA.
Jennifer Rico-VarelaRegeneron Genetics Center, Tarrytown, NY, USA.
Frederic GrauRegeneron Pharmaceuticals, Tarrytown, NY, USA.
Sarah WolfRegeneron Genetics Center, Tarrytown, NY, USA.
Sriramkumar SundaramoorthyRegeneron Pharmaceuticals, Tarrytown, NY, USA.
Farshid SepehrbandRegeneron Pharmaceuticals, Tarrytown, NY, USA.
Eli A StahlRegeneron Genetics Center, Tarrytown, NY, USA.
Yuda HuoRegeneron Pharmaceuticals, Tarrytown, NY, USA.
Mohsin AhmedRegeneron Pharmaceuticals, Tarrytown, NY, USA.
Susan CrollRegeneron Pharmaceuticals, Tarrytown, NY, USA.
GHS-RGC DiscovEHR Collaboration
Mayo-RGC Project Generation
Penn Medicine BioBank
William SalernoRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-2975-4108
John D OvertonRegeneron Genetics Center, Tarrytown, NY, USA.
Jonathan MarchiniRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-0610-8322
Jeffrey ReidRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0001-8645-4713
Luca A LottaRegeneron Genetics Center, Tarrytown, NY, USA.
Aris BarasRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0002-6830-3396
Regeneron Genetics Center
Goncalo R AbecasisRegeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-1509-1825
Giovanni Coppola *Regeneron Genetics Center, Tarrytown, NY, USA.ORCID http://orcid.org/0000-0003-2105-1061
Sahar Gelfman *Regeneron Genetics Center, Tarrytown, NY, USA. sahar.gelfman@regeneron.com.ORCID http://orcid.org/0000-0002-4727-7862

Funding

Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3M
NCI NIH HHS P30 CA015083
6 · The paper itself

Abstract

Pathogenic expansions of short tandem repeats (STRs) cause over 70 neurological diseases

Indexed as

BrainDNA Repeat ExpansionGenetic Predisposition to DiseaseMicrosatellite RepeatsAtrophyC9orf72 ProteinCerebellumFemaleHumansHuntingtin ProteinHuntington DiseaseMaleMiddle AgedMyotonin-Protein KinaseNeurofilament ProteinsOrgan SizeC9orf72 ProteinC9orf72 protein, humanDMPK protein, humanHTT protein, humanHuntingtin ProteinMyotonin-Protein Kinaseneurofilament protein LNeurofilament Proteins

Identifiers

PMID41951733
PMCPMC13190288

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.