Evidence map›Paper›PMID 36173399›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022

A pragmatic clinical trial of cascade testing for familial hypercholesterolemia.

Alexandra A Miller, Hana Bangash, Carin Y Smith, Christina M Wood-Wentz, Kent R Bailey, Iftikhar J Kullo

Open access · greenAbstract read
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
4.6field-weighted citation impact, top 4% 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

12 citing papers in PubMed, 22 citations in OpenAlex.

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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

6 authors at 3 institutions in 1 country.

Alexandra A MillerDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Hana BangashDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN.
Carin Y SmithDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.
Christina M Wood-WentzDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.
Kent R BaileyDepartment of Quantitative Health Sciences, Mayo Clinic, Rochester, MN.
Iftikhar J KulloDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN. Electronic address: Kullo.iftikhar@mayo.edu.
Mayo Clinic in Florida · USMayo Clinic in Arizona · USMayo Clinic · US

Funding

Genomic Basis of Susceptibility to COVID-19 Infection and its ComplicationsU01HG006379 · NHGRI · MAYO CLINIC ROCHESTER · PI Richard R. Sharp · 2011 to 2026
$16.5M
EHR-Based Strategies to Improve Outcomes in Familial HypercholesterolemiaR01HL135879 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2020
$2.5M
Patient-Oriented Research in Genomic Discovery and ImplementationK24HL137010 · NHLBI · MAYO CLINIC ROCHESTER · PI KULLO, IFTIKHAR J · 2017 to 2021
$590k
NHGRI NIH HHS U01 HG006379NHLBI NIH HHS K24 HL137010NHLBI NIH HHS R01 HL135879
6 · The paper itself

Abstract

purposeWe compared new cases detected per index case in familial hypercholesterolemia (FH) families with or without an identifiable monogenic etiology.

methodsWe enrolled 52 FH probands with a pathogenic variant (FH

resultsOf 71 FH

conclusionNew case detection rate was significantly higher in FH families with a monogenic etiology than in those without such an etiology owing to greater uptake and yield of cascade testing.

Indexed as

Hyperlipoproteinemia Type IIProprotein Convertase 9Cholesterol, LDLHumansReceptors, LDLCholesterol, LDLPCSK9 protein, humanProprotein Convertase 9Receptors, LDLCascade testingFamilial hypercholesterolemiaMonogenicPolygenicVariant

Identifiers

PMID36173399
PMCPMC9944844
OpenAlexW4297503498

What OpenQuestion holds

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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.