Evidence map›Paper›PMID 39711705›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Search for a genetic cause of variably protease-sensitive prionopathy.

Yuan Lian, Keisi Kotobelli, Stacey Hall, Michael E Talkowski, Anne O'Donnell-Luria, Sonia M Vallabh, Brian S Appleby, Eric Vallabh Minikel

Abstract readPreprint
In one paragraph

Article 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.

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

5 · Who and what money

Authors and funding

8 authors.

Yuan LianProgram in Brain Health, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0009-0001-9565-2292
Keisi KotobelliNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH, 44106, USA.
Stacey HallGenomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0003-2889-099
Anne O'Donnell-LuriaProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0001-6418-9592
Sonia M VallabhProgram in Brain Health, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0003-3824-2702
Brian S ApplebyNational Prion Disease Pathology Surveillance Center, Case Western Reserve University, Cleveland, OH, 44106, USA.
Eric Vallabh MinikelProgram in Brain Health, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.ORCID 0000-0003-2206-1608

Funding

Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
Evaluating the Impact of Mutations in Distant-Acting Enhancers in Structural Birth DefectsR01HD114353 · NICHD · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio, Axel Visel · 2023 to 2026
$3.3M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Identifying the genetic basis of variably protease-sensitive prionopathyR03NS123786 · NINDS · BROAD INSTITUTE, INC. · PI MINIKEL, ERIC VALLABH · 2022 to 2022
$67k
NHGRI NIH HHS R01 HG009141NHGRI NIH HHS U01 HG011755NHGRI NIH HHS UM1 HG008900NICHD NIH HHS R01 HD114353NINDS NIH HHS R03 NS123786
6 · The paper itself

Abstract

Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease currently classified as sporadic. We performed exome sequencing and targeted sequencing of

Identifiers

PMID39711705
PMCPMC11661330

What OpenQuestion holds

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Registered trials

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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.