Evidence map›Paper›PMID 39669231›Full record

ArticleGenetics in medicine open2023

Profiling

Bahareh A Mojarad, Patricia V Hernandez, Michael J Evenson, Meagan M Corliss, Sarah L Stein, Amy Theos, Carrie C Coughlin, Bryan Sisk, Maithilee Menezes, Molly C Schroeder and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. 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

13 authors.

Bahareh A MojaradDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Patricia V HernandezDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Michael J EvensonDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Meagan M CorlissDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Sarah L SteinSection of Dermatology, Departments of Medicine and Pediatrics, University of Chicago, Chicago, IL.
Amy TheosDepartment of Dermatology, University of Alabama at Birmingham Heersink School of Medicine, Birmingham, AL.
Carrie C CoughlinDivision of Dermatology, Departments of Medicine and Pediatrics, Washington University School of Medicine, St. Louis, MO.
Bryan SiskDivision of Pediatric Hematology and Oncology, Department of Pediatrics, and Department of Medicine, Oncology and Bioethics Research Center, Washington University in St. Louis School of Medicine, St. Louis, MO.
Maithilee MenezesDivision of Pediatric Otolaryngology, Department of Otolaryngology, Head and Neck Surgery, Washington University in St. Louis School of Medicine, St. Louis, MO.
Molly C SchroederDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Jonathan W HeuselDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Julie A NeidichDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.
Yang CaoDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Variants in Methods: We applied a next-generation, sequencing-based, laboratory-developed test, using an average coverage of approximately 2000× for up to 37 genes associated with DoSM, on a cohort of 1197 patients with DoSM referred for clinical genomics services between 2013 and 2022. Results: We identified clinically reportable variants in 747 (62.4%) individuals in this cohort. Notably, 371 clinically reportable variants in Conclusion: Our findings from the largest single-center cohort of patients with DoSM expand the spectrum of variants in

Indexed as

NGSPIK3CAPIK3CA-related overgrowth spectrumPROSSomatic mosaicism

Identifiers

PMID39669231
PMCPMC11613552

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.