Evidence map›Paper›PMID 36846174›Full record

ArticleClinical case reports2023

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the

Takuya Sakyu, Samantha R Stover, Yue Wang, Patricia Ward, Manisha Gandhi, Michael C Braun, Ignatia B Van den Veyver, Weimin Bi

Abstract readCase Reports
In one paragraph

Article in Clinical case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

8 authors.

Takuya SakyuBaylor Genetics Houston Texas USA.ORCID https://orcid.org/0000-0002-0762-3951
Samantha R StoverDepartment of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.
Yue WangBaylor Genetics Houston Texas USA.ORCID https://orcid.org/0000-0002-9197-9810
Patricia WardBaylor Genetics Houston Texas USA.
Manisha GandhiDepartment of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USA.ORCID https://orcid.org/0000-0002-4193-1093
Michael C BraunDepartment of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USA.
Ignatia B Van den VeyverDepartment of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.ORCID https://orcid.org/0000-0002-0651-5924
Weimin BiBaylor Genetics Houston Texas USA.ORCID https://orcid.org/0000-0002-1330-7031

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in

Indexed as

22q11.21 microdeletion/duplicationARPKDautosomal recessive disordercopy number variantsPKHD1prenatal CMA

Identifiers

PMID36846174
PMCPMC9950036

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.