Evidence map›Paper›PMID 36608130›Full record

ArticleScience advances2023

Variant-to-gene mapping followed by cross-species genetic screening identifies GPI-anchor biosynthesis as a regulator of sleep.

Justin Palermo, Alessandra Chesi, Amber Zimmerman, Shilpa Sonti, Matthew C Pahl, Chiara Lasconi, Elizabeth B Brown, James A Pippin, Andrew D Wells, Fusun Doldur-Balli and 5 more

Open access · goldAbstract read
In one paragraph

Article in Science advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
6.8field-weighted citation impact, top 2% of its field
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

28 citing papers in PubMed, 47 citations in OpenAlex.

  1. Emerging genetics of sleep and circadian disorders.Current opinion in pediatrics · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026
    Article
  7. Article
  8. Review
  9. Current Evidence for Sleep States inCurrent sleep medicine reports · 2026
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Clock-Sleep Communication.Current molecular medicine · 2025
    Review
  18. Article
  19. Article
  20. 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

15 authors at 4 institutions in 1 country.

Justin PalermoDepartment of Biology, Texas A&M University, College Station, TX 77843, USA.ORCID 0000-0001-5434-3760
Alessandra ChesiCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-0954-7446
Amber ZimmermanCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-8212-9059
Shilpa SontiCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0001-8804-3010
Matthew C PahlCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Chiara LasconiCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elizabeth B BrownDepartment of Biology, Texas A&M University, College Station, TX 77843, USA.ORCID 0000-0003-0825-8199
James A PippinCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-6850-8164
Andrew D WellsCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-3630-2145
Fusun Doldur-BalliDivision of Sleep Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, PA 19104, USA.ORCID 0000-0002-3614-8766
Diego R MazzottiDivision of Medical Informatics, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS 66103, USA.ORCID 0000-0003-3924-9199
Allan I PackDivision of Sleep Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, PA 19104, USA.ORCID 0000-0002-2879-0484
Phillip R GehrmanDivision of Sleep Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Pennsylvania, PA 19104, USA.ORCID 0000-0003-1054-7475
Struan F A GrantCenter for Spatial and Functional Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-2025-5302
Alex C KeeneDepartment of Biology, Texas A&M University, College Station, TX 77843, USA.ORCID 0000-0001-6118-5537
Children's Hospital of Philadelphia · USTexas A&M University · USUniversity of Pennsylvania · USUniversity of Kansas Medical Center · US

Funding

Understanding the relationship between obesity and tongue fat in humans and ratsP01HL094307 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI PACK, ALLAN I · 2009 to 2020
$23.7M
TRAINING PROGRAM/RESPIRATORY NEUROBIOLOGY AND SLEEPT32HL007713 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI PACK, ALLAN I · 1992 to 2022
$11.9M
Training in Sleep & Sleep DisordersT32HL007953 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI David Menassah Raizen, AMY M SAWYER · 2000 to 2026
$10.6M
Genome Wide Association Study for Childhood ObesityR01HD056465 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2008 to 2024
$9.5M
Elucidation of Genetic Effects on Sleep and Circadian TraitsR01HL143790 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI GEHRMAN, PHILIP RICHARD, GRANT, STRUAN F A · 2018 to 2021
$3.6M
Variant to gene mapping for Alzheimer's DiseaseR01AG057516 · NIA · CHILDREN'S HOSP OF PHILADELPHIA · PI GRANT, STRUAN F A · 2017 to 2021
$3.5M
Variant-to-gene mapping for brain related traits and disordersR35HG011959 · NHGRI · UNIVERSITY OF PENNSYLVANIA · PI CHESI, ALESSANDRA · 2021 to 2025
$2.4M
A Screen for Identifying Insomnia Genes.R21NS122166 · NINDS · TEXAS A&M UNIVERSITY · PI KEENE, ALEX C, KOWALKO, JOHANNA E. · 2021 to 2021
$409k
NHGRI NIH HHS R35 HG011959NHLBI NIH HHS P01 HL094307NHLBI NIH HHS R01 HL143790NHLBI NIH HHS T32 HL007713NHLBI NIH HHS T32 HL007953NIA NIH HHS R01 AG057516NICHD NIH HHS R01 HD056465NINDS NIH HHS R21 NS122166
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) in humans have identified loci robustly associated with several heritable diseases or traits, yet little is known about the functional roles of the underlying causal variants in regulating sleep duration or quality. We applied an ATAC-seq/promoter focused Capture C strategy in human iPSC-derived neural progenitors to carry out a "variant-to-gene" mapping campaign that identified 88 candidate sleep effector genes connected to relevant GWAS signals. To functionally validate the role of the implicated effector genes in sleep regulation, we performed a neuron-specific RNA interference screen in the fruit fly,

Indexed as

Drosophila melanogasterGlycosylphosphatidylinositolsAnimalsChromosome MappingGenetic TestingGenome-Wide Association StudyHumansSleepZebrafishGlycosylphosphatidylinositols

Identifiers

PMID36608130
PMCPMC9821868
OpenAlexW4313706752

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.