Evidence map›Paper›PMID 38651398›Full record

ArticleInternational journal of neonatal screening2024

An Opportunity to Fill a Gap for Newborn Screening of Neurodevelopmental Disorders.

Wendy K Chung, Stephen M Kanne, Zhanzhi Hu

Abstract read
In one paragraph

Article in International journal of neonatal screening, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Data-driven consideration of genetic disorders for global genomic newborn screening programs.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
    Article
  5. 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

3 authors.

Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0003-3438-5685
Stephen M KanneDepartment of Psychiatry, Weill Cornell Medical College, New York, NY 10065, USA.
Zhanzhi HuDepartment of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0000-0003-2171-0071

Funding

Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in AutismP50HD109879 · NICHD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI DIMA AMSO · 2022 to 2026
$14.0M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Eunice Kennedy Shriver National Institute of Child Health and Human Development P50HD109879NICHD NIH HHS P50 HD105351
6 · The paper itself

Abstract

Screening newborns using genome sequencing is being explored due to its potential to expand the list of conditions that can be screened. Previously, we proposed the need for large-scale pilot studies to assess the feasibility of screening highly penetrant genetic neurodevelopmental disorders. Here, we discuss the initial experience from the GUARDIAN study and the systemic gaps in clinical services that were identified in the early stages of the pilot study.

Indexed as

early intervention program (EIP)genome sequencing (GS)genomic uniform screening against rare diseases in all newborns (GUARDIAN)neurodevelopmental disorder (NDD)newborn screening (NBS)variants of unknown significance (VUS)

Identifiers

PMID38651398
PMCPMC11036277

What OpenQuestion holds

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Registered trials

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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.