Evidence map›Paper›PMID 38506081›Full record

ReviewCirculation. Genomic and precision medicine2024

Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.

Vivienne Souter, Emily Becraft, Samantha Brummitt, Bryan J Gall, Brittany Prigmore, Yang Wang, Peter Benn

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Circulation. Genomic and precision medicine, 2024. 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. Article
  2. Review
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

7 authors.

Vivienne SouterNatera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).ORCID 0000-0001-5599-8179
Emily BecraftNatera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).ORCID 0009-0004-1628-3938
Samantha BrummittNatera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).
Bryan J GallNatera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).ORCID 0000-0002-2284-8892
Brittany PrigmoreNatera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).
Yang WangNatera, Inc, Austin, TX (V.S., E.B., S.B., B.J.G., B.P., Y.W.).
Peter BennUniversity of Connecticut Health Center, Farmington, CT (P.B.).ORCID 0000-0001-7917-6946

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia is a treatable genetic condition but remains underdiagnosed. We reviewed the frequency of pathogenic or likely pathogenic (P/LP) variants in the

methodsThis retrospective observational study included samples from female patients (aged 18-55 years) receiving a 274-gene carrier screening panel from January 2020 to September 2022.

resultsA total of 91 637 tests were performed on women with race/ethnicity reported as Asian (8.8%), Black (6.1%), Hispanic (8.5%), White (29.0%), multiple or other (15.0%), and missing (33.0%). Median age was 32.8 years with 83 728 (91%) <40 years. P/LP

conclusionsP/LP variants in

Indexed as

Cardiovascular DiseasesHyperlipoproteinemia Type IIAdolescentAdultCholesterol, LDLFemaleHumansMiddle AgedMutationObservational Studies as TopicPhenotypeUnited StatesYoung AdultCholesterol, LDLcardiovascular diseasescholesterol, LDLhypercholesterolemia, familialreceptors, LDL

Identifiers

PMID38506081
PMCPMC11019987

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.