Evidence map›Paper›PMID 36858322›Full record

ArticleUrology2023

Whole Exome Sequencing Identifies a Rare CFTR Mutation in Brothers With Anomalies of the Vas Deferens: A Case Study.

Katherine Campbell, Alexandra Dullea, Kyle Schuppe, Armin Ghomeshi, Christian Ramsoomair, Anthony J Griswold, Kajal Khodamoradi, Ranjith Ramasamy

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Urology, 2023. 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, top 97% of its field
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, 0 citations in OpenAlex.

No citing paper in PubMed yet.

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 at 3 institutions in 1 country.

Katherine CampbellDesai Sethi Urology Institute, University of Miami, Miami, FL.
Alexandra DulleaDesai Sethi Urology Institute, University of Miami, Miami, FL.
Kyle SchuppeWashington State University Elson S. Floyd College of Medicine, Spokane, WA.
Armin GhomeshiHerbert Wertheim College of Medicine, Florida International University, Miami, FL.
Christian RamsoomairDesai Sethi Urology Institute, University of Miami, Miami, FL.
Anthony J GriswoldJohn P. Hussman Institute for Human Genomics, University of Miami, Miami, FL; Dr. John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL.
Kajal KhodamoradiDesai Sethi Urology Institute, University of Miami, Miami, FL.
Ranjith RamasamyDesai Sethi Urology Institute, University of Miami, Miami, FL. Electronic address: ranjithrama@gmail.com.
University of Miami · USFlorida International University · USWashington State University Spokane · US

Funding

Disease Modifying Treatment Using Combined Shockwave Therapy and Platelet Rich Plasma In Microvascular Erectile DysfunctionR01DK130991 · NIDDK · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI IBRAHIM, EMAD · 2021 to 2023
$921k
NIDDK NIH HHS R01 DK130991
6 · The paper itself

Abstract

Congenital bilateral absence of the vas deferens (CBAVD) occurs in almost all men with cystic fibrosis. Prevailing theories on this pathophysiology relate to pathogenic mutations in the cystic fibrosis transmembrane regulator gene leading to agenesis or obliteration of vas deferens in utero. In this study, we present a case of two brothers with congenital anomalies of the vas deferens who were found to have carried a rare, heterozygous cystic fibrosis transmembrane regulator variant p.r347h without pulmonary or gastrointestinal signs or symptoms of cystic fibrosis .

Indexed as

Cystic FibrosisVas DeferensCystic Fibrosis Transmembrane Conductance RegulatorExome SequencingHumansMaleMutationSiblingsCFTR protein, humanCystic Fibrosis Transmembrane Conductance Regulator

Identifiers

PMID36858322
PMCPMC10238635
OpenAlexW4322492269

What OpenQuestion holds

Textmetadata
LicenceTDM
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.