Evidence map›Paper›PMID 37433679›Full record

ArticleCold Spring Harbor molecular case studies2023

Amy Wiegand, Rama Kastury, Arpita Neogi, Arya Mani, Allen Bale, Allison Cox

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

Article in Cold Spring Harbor molecular case studies, 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 citations in OpenAlex.

  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

6 authors at 3 institutions in 1 country.

Amy WiegandSmilow Cancer Genetics and Prevention Program, Yale New Haven Health, New Haven, Connecticut 06510, USA; amy.wiegand@ynhh.org.
Rama KasturyDepartment of Pediatric and Adolescent Gynecology, National Institutes of Health, Bethesda, Maryland 20892, USA.
Arpita NeogiDepartment of Cardiovascular Medicine, Yale School of Medicine, New Haven, Connecticut 06510, USA.
Arya ManiDepartment of Cardiovascular Medicine, Yale School of Medicine, New Haven, Connecticut 06510, USA.
Allen BaleDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.
Allison CoxDepartment of Genetics, Yale School of Medicine, New Haven, Connecticut 06510, USA.
Yale University · USNational Institutes of Health · USSmilow Cancer Hospital · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
The Identification and characterization of genetic variants underlying cardiovascular diseasesR35HL135767 · NHLBI · YALE UNIVERSITY · PI MANI, ARYA · 2017 to 2023
$7.0M
The characterization of Cela2a, a novel disease gene for metabolic syndrome in health and diseasesR01DK134329 · NIDDK · YALE UNIVERSITY · PI Arya Mani · 2023 to 2026
$2.6M
The transcriptional regulation of smooth muscle genes by PRDM6 in vascular health and diseasesR01HL171054 · NHLBI · YALE UNIVERSITY · PI Arya Mani · 2024 to 2026
$2.5M
NCATS NIH HHS UL1 TR001863NHLBI NIH HHS R01 HL171054NHLBI NIH HHS R35 HL135767NIDDK NIH HHS R01 DK134329
6 · The paper itself

Abstract

Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue disorders have distinct cardiovascular manifestations that require early intervention and specific management. Molecular testing has increased the ability to categorize and diagnose distinct hereditary connective tissue disorders. A 42-yr-old female with a clinical diagnosis of Larsen syndrome from birth presented for genetic testing based on her recent diagnosis of premenopausal breast cancer. She had a past medical history of multiple carotid dissections. As she never had confirmatory molecular genetic testing for Larsen syndrome, whole-exome sequencing was utilized to assess both hereditary cancer predisposition syndromes and connective tissue disorders. A homozygous pathogenic variant in the

Indexed as

Ehlers-Danlos SyndromeNeoplastic Syndromes, HereditaryOsteochondrodysplasiasAdultDiagnostic ErrorsFemaleGenotypeHumansPeptidylprolyl IsomeraseFKBP14 protein, humanPeptidylprolyl Isomerasecommon carotid artery dissectioncongenital kyphoscoliosisgeneralized neonatal hypotonia

Identifiers

PMID37433679
PMCPMC10393184
OpenAlexW4383875302

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.