Evidence map›Paper›PMID 40720646›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2025

Rare variants in

Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U Rehman and 6 more

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2025. 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. Emerging genetics of sleep and circadian disorders.Current opinion in pediatrics · 2026
    Article
  3. Article
  4. Review
  5. 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

16 authors.

Vishnu Anand CuddapahJan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030.
Dechun ChenHHMI, University of Pennsylvania, Philadelphia, PA 19104.
Bumsik ChoHHMI, University of Pennsylvania, Philadelphia, PA 19104.
Rebecca MooreHHMI, University of Pennsylvania, Philadelphia, PA 19104.
Mohnish SuriNottingham Clinical Genetics Service, Nottingham University Hospitals National Health Service Trust, Greater Nottingham NG5 1PB, United Kingdom.
Hana SafraouLaboratoire de Génomique médicale, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon 21000, France.
Frederic Tran-Mau-ThemLaboratoire de Génomique médicale, Centre Hospitalier Universitaire Dijon-Bourgogne, Dijon 21000, France.
Ashley WilsonNew York Genome Center, New York, NY 10013.
Jacqueline OdgisIcahn School of Medicine at Mount Sinai, New York, NY 10029.
Atteeq U RehmanNew York Genome Center, New York, NY 10013.
Carol SaundersDepartment of Pathology and Laboratory Medicine, Children's Mercy-Kansas City and Departments of Pediatrics and Pathology, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108.
Shiva GanesanDivision of Neurology, The Epilepsy NeuroGenetics Initiative, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
Vaidehi JobanputraNew York Genome Center, New York, NY 10013.
Stephen W SchererThe Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
Ingo HelbigDivision of Neurology, The Epilepsy NeuroGenetics Initiative, Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
Amita SehgalHHMI, University of Pennsylvania, Philadelphia, PA 19104.ORCID 0000-0001-7354-9641

Funding

Interaction between circadian and sleep circuitsR01NS048471 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI AMITA SEHGAL · 2005 to 2026
$4.8M
A computational phenotyping approach to characterize neurogenetic disordersR01NS131512 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Ingo Helbig · 2023 to 2026
$2.8M
Regulation of Seizure Timing by Circadian Rhythms and SleepK08NS131602 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Vishnu Anand Cuddapah · 2023 to 2026
$861k
HHS | National Institutes of Health (NIH) K08NS131602HHS | National Institutes of Health (NIH) R01NS048471Howard Hughes Medical Institute (HHMI) HHMI InvestigatorNINDS NIH HHS K08 NS131602NINDS NIH HHS R01 NS048471NINDS NIH HHS R01 NS131512Wellcome Trust
6 · The paper itself

Abstract

Through international gene-matching efforts, we identified 10 individuals with ultrarare heterozygous variants, including 5 de novo variants, in

Indexed as

ARNTL Transcription FactorsAutism Spectrum DisorderDevelopmental DisabilitiesNeurodevelopmental DisordersAnimalsChildCircadian RhythmDrosophila melanogasterFemaleHumansMalePeriod Circadian ProteinsARNTL Transcription FactorsBMAL1 protein, humanPER2 protein, humanPeriod Circadian ProteinsBMAL1circadian rhythmsdevelopmental delayDrosophilaneurodevelopmental disorder

Identifiers

PMID40720646
PMCPMC12337293

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.