Evidence map›Paper›PMID 37593415›Full record

ArticleHGG advances2023

Phenotypes of undiagnosed adults with actionable

Jessica I Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader and 4 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2023. 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
0.6field-weighted citation impact, top 34% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  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

14 authors at 6 institutions in 1 country.

Jessica I GoldDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA.
Sarina MadhavanHarvard Medical School, Boston, MA, USA.
Joseph ParkDepartment of Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Hana ZoukHarvard Medical School, Boston, MA, USA.
Emma PerezMass General Brigham Personalized Medicine, Cambridge MA, USA.
Alanna StrongDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA.
Theodore G DrivasDivision of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Amel KaraaMassachusetts General Hospital for Children, Boston, MA, USA.
Marc YudkoffDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia; Philadelphia, PA, USA.
Daniel RaderDepartment of Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Regeneron Genetics Center
Penn Medicine BioBank
Robert C GreenHarvard Medical School, Boston, MA, USA.
Nina B GoldMassachusetts General Hospital for Children, Boston, MA, USA.
Children's Hospital of Philadelphia · USUniversity of Pennsylvania · USBoston Children's Hospital · USHarvard University · USBrigham and Women's Hospital · USBroad Institute · US

Funding

Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4M
MEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7M
Genome-first approach to treatable genetic conditions in adultsK08HG012811 · NHGRI · MASSACHUSETTS GENERAL HOSPITAL · PI Nina Beth Gold · 2023 to 2026
$883k
NCATS NIH HHS UL1 TR001878NHGRI NIH HHS K08 HG012811NIGMS NIH HHS T32 GM008638
6 · The paper itself

Abstract

Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to protocols that improve clinical detection, counseling, and management. Using data from 57,340 participants in two hospital biobanks, we assessed the frequency and phenotypes of individuals with pathogenic/likely pathogenic variants (PLPVs) in two IMD genes:

Indexed as

Fabry DiseaseFemaleGenotypeHospitalsHumansMalePenetrancePhenotypeFabry diseaseGenomic newborn screeningGenomic return of resultsGenotype first approachHospital biobankInherited metabolic disorderOrnithine transcarbamylase (OTC) deficiencyPenetranceSecondary findingsVariable expressivity

Identifiers

PMID37593415
PMCPMC10428110
OpenAlexW4385337370

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.