Evidence map›Paper›PMID 38370698›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.

Sara Mansoorshahi, Anji T Yetman, Malenka M Bissell, Yuli Y Kim, Hector Michelena, Dawn S Hui, Anthony Caffarelli, Maria G Andreassi, Ilenia Foffa, Dongchuan Guo and 12 more

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

Article in medRxiv : the preprint server for health sciences, 2024. 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
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, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

22 authors at 14 institutions in 3 countries.

Sara MansoorshahiDepartment of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.
Anji T YetmanChildren's Hospital and Medical Center, University of Nebraska, Omaha, Nebraska.
Malenka M BissellDepartment of Biomedical Imaging Science, Leeds Institute of Cardiovascular and Metabolic Medicine, University of Leeds, Leeds, United Kingdom.
Yuli Y KimDivision of Cardiovascular Medicine, The Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Hector MichelenaDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
Dawn S HuiDepartment of Cardiothoracic Surgery, University of Texas Health Science Center San Antonio, Texas.
Anthony CaffarelliDepartment of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, California.
Maria G AndreassiConsiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy.
Ilenia FoffaConsiglio Nazionale delle Richerche (CNR), Instituto di Fisiologia Clinica, Pisa, Italy.
Dongchuan GuoDepartment of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.
Rodolfo CitroCardio-Thoracic and Vascular Department, University Hospital "San Giovanni di Dio e Ruggi d'Aragona," Salerno, Italy.
Margot De MarcoDepartment of Medicine, Surgery and Dentistry Schola Medica Salernitana, University of Salerno, Baronissi, Italy.
Justin T TretterCleveland Clinic, Cleveland, Ohio.
Shaine A MorrisDepartment of Pediatrics, Division of Pediatric Cardiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.
Simon C BodyDepartment of Anesthesiology, Boston University School of Medicine, Boston, Massachusetts.
Jessica X ChongDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
Michael J BamshadDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.
University of Washington Center for Rare Disease Research
BAVCon Investigators
EBAV Investigators
Dianna M MilewiczDepartment of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.
Siddharth K PrakashDepartment of Internal Medicine, University of Texas Health Science Center at Houston, Houston, Texas.ORCID 0000-0001-6341-9624
The University of Texas Health Science Center at Houston · USIstituto di Fisiologia Clinica · ITUniversity of Washington · USBaylor College of Medicine · USBoston University · USChildren's Hospital & Medical Center · USCleveland Clinic · USHospital of the University of Pennsylvania · USMayo Clinic · USOspedali Riuniti San Giovanni di Dio e Ruggi d'Aragona · ITStanford University · USThe University of Texas Health Science Center at San Antonio · USUniversity of Leeds · GBUniversity of Salerno · IT

Funding

Genetic Etiology of Bicuspid Aortic Valve DiseaseR01HL114823 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI BODY, SIMON C · 2012 to 2016
$2.1M
Genetic Basis of Early Onset Bicuspid Aortic Valve DiseaseR01HL137028 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI PRAKASH, SIDDHARTH KUMAR · 2017 to 2020
$1.5M
Using GenTAC Resources in BioLINCC to discover BAV-specific Aortic PhenotypesR21HL150373 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BODY, SIMON C · 2019 to 2020
$255k
Sex Chromosome Loss and Clonal Hematopoesis in Thoracic Aortic DiseaseR21HL150383 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI PRAKASH, SIDDHARTH KUMAR · 2019 to 2020
$233k
NHLBI NIH HHS R01 HL114823NHLBI NIH HHS R01 HL137028NHLBI NIH HHS R21 HL150373NHLBI NIH HHS R21 HL150383
6 · The paper itself

Abstract

Bicuspid Aortic Valve (BAV) is the most common adult congenital heart lesion with an estimated population prevalence of 1%. We hypothesize that early onset complications of BAV (EBAV) are driven by specific impactful genetic variants. We analyzed whole exome sequences (WES) to identify rare coding variants that contribute to BAV disease in 215 EBAV families. Predicted pathogenic variants of causal genes were present in 111 EBAV families (51% of total), including genes that cause BAV (8%) or heritable thoracic aortic disease (HTAD, 17%). After appropriate filtration, we also identified 93 variants in 26 novel genes that are associated with autosomal dominant congenital heart phenotypes, including recurrent deleterious variation of

Indexed as

Bicuspid Aortic ValveCardiovascular GeneticsCongenital Heart DiseaseThoracic Aortic AneurysmWhole Exome Sequencing

Identifiers

PMID38370698
PMCPMC10871469
OpenAlexW4391640322

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.