Evidence map›Paper›PMID 40909831›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Biallelic variants in

Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa, Alessandro Bruselles, Luigi Chiriatti, Cecilia Mancini, Undiagnosed Diseases Network, Enrico Silvio Bertini, Devon E Bonner and 12 more

Abstract readPreprint
PubMed Full text at PMC Publisher
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

22 authors.

Daniel GreeneDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Rodrigo MendezDepartment of Medicine, Stanford University, Stanford, CA, USA.ORCID 0000-0001-6465-452X
Jon LeesBristol Medical School, University of Bristol, Bristol, United Kingdom.
Mafalda BarbosaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Alessandro BrusellesOncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Luigi ChiriattiMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Cecilia ManciniMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Undiagnosed Diseases Network
Enrico Silvio BertiniMuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Devon E BonnerDepartment of Pediatrics, Stanford University, Stanford, CA, USA.ORCID 0000-0002-8771-0886
Thomas A CassiniVanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-3522-2135
Kimberly M EzellVanderbilt University Medical Center, Nashville, TN, USA.
Natalia Gomez-OspinaDepartment of Pediatrics, Stanford University, Stanford, CA, USA.
Lynette RivesVanderbilt University Medical Center, Nashville, TN, USA.
Vandana ShashiDuke University School of Medicine, Durham, NC, USA.
Rebecca C SpillmannDuke University School of Medicine, Durham, NC, USA.
Mohamed WafikGuy's and St Thomas' NHS Foundation Trust, London, UK.
Marco TartagliaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Jonathan A BernsteinDepartment of Pediatrics, Stanford University, Stanford, CA, USA.ORCID 0000-0001-5369-346X
Andrew D MumfordBristol Medical School, University of Bristol, Bristol, United Kingdom.ORCID 0000-0002-5523-511X
Matthew T WheelerDepartment of Medicine, Stanford University, Stanford, CA, USA.ORCID 0000-0001-8721-3022
Ernest TurroDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID 0000-0002-1820-6563

Funding

Center for Undiagnosed Diseases at StanfordU01NS134358 · NINDS · STANFORD UNIVERSITY · PI Jonathan Adam Bernstein, HOLLY K TABOR · 2023 to 2026
$3.1M
Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patientsR01HL161365 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Ernest Turro · 2023 to 2026
$2.6M
NHLBI NIH HHS R01 HL161365NINDS NIH HHS U01 NS134358Wellcome Trust
6 · The paper itself

Abstract

We recently showed that mutations in

Identifiers

PMID40909831
PMCPMC12407618

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.