Evidence map›Paper›PMID 38970919›Full record

ReviewEBioMedicine2024

Potential clinical applications of advanced genomic analysis in cerebral palsy.

Sara A Lewis, Andrew Ruttenberg, Tuğçe Iyiyol, Nahyun Kong, Sheng Chih Jin, Michael C Kruer

Abstract readReview
In one paragraph

Review in EBioMedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. A Phenotypic Paradigm for Cerebral Palsy Genetics.medRxiv : the preprint server for health sciences · 2026
    Article
  2. Review
  3. 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.

Sara A LewisPediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, United States.
Andrew RuttenbergDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, United States.
Tuğçe IyiyolDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, United States.
Nahyun KongDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, United States.
Sheng Chih JinDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, United States; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States. Electronic address: jin810@wustl.edu.
Michael C KruerPediatric Movement Disorders Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, United States; Departments of Child Health, Neurology, and Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ, United States; Programs in Neuroscience and Molecular & Cellular Biology, School of Life Sciences, Arizona State University, Tempe, AZ, United States. Electronic address: kruerm@arizona.edu.

Funding

Genomic Insights into the Neurobiology of Cerebral PalsyR01NS106298 · NINDS · UNIVERSITY OF ARIZONA · PI KRUER, MICHAEL C · 2019 to 2023
$3.7M
Genomic analysis of the Multiplex, Autozygous Populations in Cerebral Palsy (MAP CP) cohort: a focused approach to a complex diseaseR01NS127108 · NINDS · UNIVERSITY OF ARIZONA · PI Michael C Kruer · 2023 to 2026
$2.6M
Human Genetics and Molecular Mechanisms of Congenital HydrocephalusR01NS111029 · NINDS · YALE UNIVERSITY · PI DENIZ, ENGIN, JIN, SHENG CHIH · 2020 to 2024
$2.5M
Molecular and cellular characterization of congenital hydrocephalusR01NS131610 · NINDS · WASHINGTON UNIVERSITY · PI Sheng Chih Jin · 2024 to 2026
$1.3M
NINDS NIH HHS R01 NS106298NINDS NIH HHS R01 NS111029NINDS NIH HHS R01 NS127108NINDS NIH HHS R01 NS131610
6 · The paper itself

Abstract

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection. In this review, we outline the use of these state-of-the-art technologies to address the molecular diagnostic challenges experienced by individuals with CP. We also explore the importance of identifying a molecular etiology whenever possible, given the potential for genomic medicine to provide opportunities to treat patients with CP in new and more precise ways.

Indexed as

Cerebral PalsyGenomicsExome SequencingGenetic Predisposition to DiseaseGenetic VariationGenome, HumanHumansTranscriptomeCerebral PalsyClinical actionabilityClinical genetic testingGenomic technologiesPersonalized medicineWESWGS

Identifiers

PMID38970919
PMCPMC11282942

What OpenQuestion holds

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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.