Evidence map›Paper›PMID 41313302›Full record

ReviewJournal of neuromuscular diseases2026

Role of next generation sequencing in neonatal diagnosis and screening.

Sara S Ali, Pankaj B Agrawal

Abstract readReview
In one paragraph

Review in Journal of neuromuscular diseases, 2026. 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.

No citing paper in PubMed yet.

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

2 authors.

Sara S AliDivision of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.
Pankaj B AgrawalDivision of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.ORCID 0000-0003-3255-0456

Funding

VIGOR: Virtual Genome Center for Infant HealthR01HG011798 · NHGRI · BOSTON CHILDREN'S HOSPITAL · PI AGRAWAL, PANKAJ B, PARKER, MARGARET GRAHAM KEMPER · 2021 to 2025
$5.1M
NHGRI NIH HHS R01 HG011798
6 · The paper itself

Abstract

Congenital disorders are a significant contributor to neonatal intensive care unit (NICU) admissions and neonatal mortality, adding to substantial healthcare costs and emotional burden for families. The introduction of rapid next-generation sequencing (NGS), also known as massively parallel sequencing (MPS), in the NICU has advanced neonatal care by enabling rapid and precise diagnoses. This review explores various NGS technologies utilized in the NICU, their clinical utility, and their role in newborn screening (NBS). It also highlights several challenges hindering its widespread adoption. Addressing these barriers will require a combined effort from all the different stakeholders to ensure fair and responsible integration of NGS into neonatal care.

Indexed as

Genetic TestingHigh-Throughput Nucleotide SequencingNeonatal ScreeningHumansInfant, NewbornIntensive Care Units, Neonatalgenetic disordersgenomic sequencingmulti-omicsneonate

Identifiers

PMID41313302
PMCPMC13434914

What Socratic holds

Textmetadata
LicenceCC BY-NC
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 Socratic graph.