Evidence map›Paper›PMID 31993549›Full record

ArticleJournal of the Endocrine Society2020

Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Abhimanyu Garg, Sergio Fazio, P Barton Duell, Alexis Baass, Chandrasekhar Udata, Tenshang Joh, Tom Riel, Marina Sirota, Danielle Dettling, Hong Liang and 3 more

Open access · goldAbstract read
In one paragraph

Article in Journal of the Endocrine Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

10 citing papers in PubMed, 14 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Health equity in the implementation of genomics and precision medicine: A public health imperative.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Review
  7. Article
  8. Balkan journal of medical genetics : BJMG · 2021
    Article
  9. FH through the retrospectoscope.Journal of lipid research · 2021
    Review
  10. Observational
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 at 4 institutions in 2 countries.

Abhimanyu GargDivision of Nutrition and Metabolic Diseases, Department of Internal Medicine, UT Southwestern Medical Center, Dallas, Texas.ORCID 0000-0001-7209-6986
Sergio FazioKnight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon.
P Barton DuellKnight Cardiovascular Institute, Oregon Health & Science University, Portland, Oregon.
Alexis BaassInstitut de Recherches Cliniques de Montreal, Montreal, Canada.
Chandrasekhar UdataPfizer Inc., San Diego, California.
Tenshang JohPfizer Inc., San Diego, California.
Tom RielPfizer Inc., South San Francisco, California.
Marina SirotaPfizer Inc., South San Francisco, California.
Danielle DettlingPfizer Inc., South San Francisco, California.
Hong LiangPfizer Inc., South San Francisco, California.
Pamela D GarzonePfizer Inc., South San Francisco, California.
Barry GumbinerPfizer Inc., San Diego, California.
Hong WanPfizer Inc., South San Francisco, California.
Pfizer (United States) · USOregon Health & Science University · USMontreal Clinical Research Institute · CASouthwestern Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial hypercholesterolemia (FH) confers a very high risk of premature cardiovascular disease and is commonly caused by mutations in low-density lipoprotein receptor (

objectiveTo determine the prevalence of pathogenic mutations in the

methodsNinety-three men and 107 women aged 19 to 80 years from lipid clinics in the United States and Canada participated. Demographic and historical data were collected, physical examination performed, and serum lipids/lipoproteins analyzed. Targeted sequencing analyses of

resultsDisease-causing

conclusions

Indexed as

apolioprotein Bfamilial hypercholesterolemiaLDL receptorPCSK9triglycerides

Identifiers

PMID31993549
PMCPMC6977948
OpenAlexW2972496016

What OpenQuestion holds

Textmetadata
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.