Evidence map›Paper›PMID 42539103›Full record

ArticleResearch square2026

Cross-species functional analysis of a

David F Butler, Weimin Yuan, Hirokazu Hashimoto, Hieu Hoang, Jonathan H Sheehan, Vanessa Gomez, Jill A Rosenfeld, Lindsay C Burrage, Gary A Silverman, Patricia Dickson and 15 more

Abstract readPreprint
In one paragraph

Article in Research square, 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

25 authors.

David F ButlerDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Weimin YuanDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Hirokazu HashimotoDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hieu HoangDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Jonathan H SheehanDepartment of Medicine, Washington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0002-9641-7577
Vanessa GomezDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jill A RosenfeldDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5664-7987
Lindsay C BurrageJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Gary A SilvermanDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Patricia DicksonDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Karen K MoellerTexas Children's Hospital, Houston, TX 77030, USA.
Lisa EmrickJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Mythily GanapathiDepartment of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Undiagnosed Diseases Network
Dustin BaldridgeDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.
Oguz KancaJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.ORCID 0000-0001-5438-0879
Carlos BacinoJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Brendan LeeJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Hugo J BellenDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0001-5992-5989
Shinya YamamotoDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-2172-8036
Wendy K ChungDepartment of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115 USA.ORCID 0000-0003-3438-5685
Tim SchedlDepartment of Genetics, Washington University School of Medicine, St Louis, MO, 63110 USA.
Michael WanglerDepartment of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Andrew YooDepartment of Developmental Biology, Washington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0002-0304-3247
Stephen C PakDepartment of Pediatrics, Washington University School of Medicine, St Louis, MO 63110, USA.ORCID 0000-0002-8089-3237

Funding

Diagnosing the Unknown for Care and Advancing Science (DUCAS)U2CNS132415 · NINDS · HARVARD MEDICAL SCHOOL · PI Francis Sessions Cole · 2023 to 2026
$32.1M
Pilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3M
Preclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI MIRJANA MALETIC-SAVATIC · 2020 to 2026
$9.9M
Child Health Research CenterK12HD076224 · NICHD · WASHINGTON UNIVERSITY · PI MARK E. LOWE · 2013 to 2026
$6.2M
Urine-Derived Cell RNA Sequencing to Improve Diagnosis in Undiagnosed UDN Participants.U01NS134348 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI Carlos A. Bacino, Brendan Lee · 2023 to 2026
$3.8M
NHGRI NIH HHS U01 HG007709NICHD NIH HHS K12 HD076224NICHD NIH HHS P50 HD103555NINDS NIH HHS U01 NS134348NINDS NIH HHS U2C NS132415
6 · The paper itself

Abstract

Neurodevelopmental disorders are genetically heterogeneous and often remain unresolved despite extensive clinical evaluation and genomic testing. Here, we report a proband with a progressive neurodevelopmental disorder evaluated through the Undiagnosed Diseases Network who harbored heterozygous

Indexed as

Caenorhabditis elegansDCLK1functional genomicsneurite degenerationneurodevelopmental disorderpatient-derived neuronsundiagnosed diseases

Identifiers

PMID42539103
PMCPMC13419596

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.