Evidence map›Paper›PMID 41646824›Full record

ArticlemedRxiv : the preprint server for health sciences2026

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Adam S Arterbery, Michael A Gargano, Anita Bagley, Jagadish Chandrabose Sundaramurthi, Lauren Rekerle, Thania Ordaz-Robles, Daniel Danis, Adam Sl Graefe, Ana L Arenas-Díaz, Jeremy P Bauer and 23 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 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

5 · Who and what money

Authors and funding

33 authors.

Adam S ArterberyThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0002-3817-890X
Michael A GarganoThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0002-2157-3591
Anita BagleyShriners Children's Northern California, Sacramento, California 95817, USA.ORCID 0000-0001-9118-8798
Jagadish Chandrabose SundaramurthiThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0002-6670-9157
Lauren RekerleThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0003-2598-6622
Thania Ordaz-RoblesShriners Children's, Mexico City, Mexico.ORCID 0000-0002-0299-3048
Daniel DanisBerlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.ORCID 0000-0003-0900-3411
Adam Sl GraefeBerlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.ORCID 0009-0004-8124-8864
Ana L Arenas-DíazShriners Children's, Mexico City, Mexico.ORCID 0009-0000-7457-8655
Jeremy P BauerShriners Children's, Portland, Oregon 97239, USA.ORCID 0000-0002-7798-6598
Hannah BlauThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0003-4557-5492
Leigh CarmodyThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0001-7941-2961
Kristen L CarrollShriners Children's Salt Lake City, Salt Lake City, Utah 84103, USA.ORCID 0000-0001-8140-6595
Janice DavisShriners Children's Salt Lake City, Salt Lake City, Utah 84103, USA.
Philip F GiampietroUniversity of Illinois-Chicago, 840 S Wood Street, Room 1224, Chicago, Illinois 60612.
Anxhela Gjyshi GustafsonShriners Children's Genomics Institute, Tampa, Florida 33612, USA.ORCID 0009-0002-3165-9564
Monserat HernandezShriners Children's Northern California, Sacramento, California 95817, USA.
Julius Ob JacobsenWilliam Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-3265-1591
Paige LemhouseShriners Children's, Portland, Oregon 97239, USA.
David MilletShriners Children's Salt Lake City, Salt Lake City, Utah 84103, USA.
Shubhra MukherjeeShriners Children's Chicago, 2211 N Oak Park Ave, Chicago IL 60707.ORCID 0009-0005-7194-2999
Patrick NairneBerlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin 10117, Germany.
Emily NiceShriners Children's Philadelphia, Philadelphia, PA 19140, USA.
Talia PlotkinShriners Children's Chicago, 2211 N Oak Park Ave, Chicago IL 60707.
Kenneth PowellShriners Children's Shreveport; 3100 Samford Ave., Shreveport, LA 71103.
Ellen M RaneyShriners Children's, Portland, Oregon 97239, USA.ORCID 0000-0002-8531-1777
Mallory ShingleShriners Children's Northern California, Sacramento, California 95817, USA.
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.ORCID 0000-0002-5836-9850
Peter A SmithShriners Children's Chicago, 2211 N Oak Park Ave, Chicago IL 60707.ORCID 0000-0003-0189-3675
Demiana A SolimanShriners Children's Shreveport; 3100 Samford Ave., Shreveport, LA 71103.ORCID 0009-0006-7868-2699
David E WestberryShriners Children's Greenville, 950 West Faris Rd | Greenville, SC.ORCID 0000-0003-0207-8322
Jon R DavidsShriners Children's Northern California, Sacramento, California 95817, USA.ORCID 0000-0002-1639-6519
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.ORCID 0000-0002-0736-9199

Funding

The Human Phenotype Ontology: Accelerating Computational Integration of Clinical Data for GenomicsU24HG011449 · NHGRI · JACKSON LABORATORY · PI Peter Nicholas Robinson · 2021 to 2026
$6.7M
Increasing the Yield and Utility of Pediatric Genomic Medicine with ExomiserR01HD103805 · NICHD · JACKSON LABORATORY · PI Valentina Cipriani, CHRISTOPHER J MUNGALL · 2021 to 2026
$4.3M
NHGRI NIH HHS U24 HG011449NICHD NIH HHS R01 HD103805
6 · The paper itself

Abstract

Disease-causing genetic variants can be found in a subset of individuals with cerebral palsy (CP), with variants deemed causal of CP having been published for at least 515 genes. We develop a statistical approach that treats CP as a phenotypic feature for which some genetic disorders confer an increased risk. Based on comprehensive literature curation we show that the null hypothesis of no CP association can be rejected for only 89 of the 515 genes. We applied these findings to the analysis of a cohort of 460 children diagnosed with CP in the Shriner Children's network. We identified pathogenic or likely pathogenic (P/LP) variants in 60 genes in 15.8% of the children. Only 16 of the 60 genes had significant evidence for CP association in our literature analysis. Our results suggest that a stratified approach to attributing causality to genetic variants in CP could support precision genomic medicine for affected individuals.

Identifiers

PMID41646824
PMCPMC12870715

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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.