Evidence map›Paper›PMID 41503485›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Expanding the Clinical and Molecular Spectrum of

Shaghayegh T Beheshti, Angad Jolly, Ahmed K Saad, Haowei Du, Lauren E Westerfield, Chloe Munderloh, Divya Kalra, Yifan Wu, Yi Chen, Marie-Claude Gingras and 9 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

19 authors.

Shaghayegh T BeheshtiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID 0000-0002-4092-7703
Angad JollyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Ahmed K SaadDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Haowei DuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Lauren E WesterfieldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Chloe MunderlohDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Divya KalraHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Yifan WuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Yi ChenHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Marie-Claude GingrasHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.
Sarenur YilmazDr. Sare Nur Yilmaz, Independent Practice, Istanbul, 34758, Turkey.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
Daniel G CalameDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID 0000-0001-6860-372X
Davut PehlivanSection of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
Richard A LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.ORCID 0000-0001-9907-9246
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.

Funding

Frequency of variants of unknown significance by ancestry groups in the All of Us Research Program cohortU01HG011758 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI RICHARD A GIBBS, JAMES R. LUPSKI · 2021 to 2026
$13.8M
Genetics & Genomics Training ProgramT32GM139534 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI GAD SHAULSKY · 2021 to 2026
$4.8M
NHGRI NIH HHS U01 HG011758NIGMS NIH HHS T32 GM139534
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID41503485
PMCPMC12772676

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.