Evidence map›Paper›PMID 30747104›Full record

ArticleeLife2019

Eric Deneault, Muhammad Faheem, Sean H White, Deivid C Rodrigues, Song Sun, Wei Wei, Alina Piekna, Tadeo Thompson, Jennifer L Howe, Leon Chalil and 8 more

Abstract read
In one paragraph

Article in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 1 pooled it
–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

64 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
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  9. Review
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  17. Loss of primary cilia and dopaminergic neuroprotection in pathogenic LRRK2-driven and idiopathic Parkinson's disease.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  18. Article
  19. Review
  20. Article

4 more citing papers are in PubMed but not listed here.

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

18 authors.

Eric DeneaultGenetics & Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.ORCID 0000-0002-6875-0380
Muhammad FaheemGenetics & Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Sean H WhiteDepartment of Biochemistry and Biomedical Sciences, Stem Cell and Cancer Research Institute, McMaster University, Hamilton, Canada.
Deivid C RodriguesDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada.
Song SunLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.
Wei WeiDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada.
Alina PieknaDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada.
Tadeo ThompsonDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada.
Jennifer L HoweGenetics & Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Leon ChalilDepartment of Biochemistry and Biomedical Sciences, Stem Cell and Cancer Research Institute, McMaster University, Hamilton, Canada.
Vickie KwanDepartment of Biochemistry and Biomedical Sciences, Stem Cell and Cancer Research Institute, McMaster University, Hamilton, Canada.
Susan WalkerGenetics & Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Peter PasceriDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, Canada.
Frederick P RothLunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, Canada.
Ryan Kc YuenGenetics & Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Karun K SinghDepartment of Biochemistry and Biomedical Sciences, Stem Cell and Cancer Research Institute, McMaster University, Hamilton, Canada.ORCID 0000-0001-8301-3533
James EllisDepartment of Molecular Genetics, University of Toronto, Toronto, Canada.ORCID 0000-0002-4400-0091
Stephen W SchererGenetics & Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.ORCID 0000-0002-8326-1999

Funding

Genomic Analysis of Network Perturbations in Human DiseaseP50HG004233 · NHGRI · DANA-FARBER CANCER INST · PI VIDAL, MARC · 2007 to 2017
$31.6M
NHGRI NIH HHS P50 HG004233
6 · The paper itself

Abstract

Induced pluripotent stem cell (iPSC)-derived neurons are increasingly used to model Autism Spectrum Disorder (ASD), which is clinically and genetically heterogeneous. To study the complex relationship of penetrant and weaker polygenic risk variants to ASD, 'isogenic' iPSC-derived neurons are critical. We developed a set of procedures to control for heterogeneity in reprogramming and differentiation, and generated 53 different iPSC-derived glutamatergic neuronal lines from 25 participants from 12 unrelated families with ASD. Heterozygous de novo and rare-inherited presumed-damaging variants were characterized in ASD risk genes/loci. Combinations of putative etiologic variants ( Editorial note: This article has been through an editorial process in which authors decide how to respond to the issues raised during peer review. The Reviewing Editor's assessment is that all the issues have been addressed (see decision letter).

Indexed as

AdolescentAdultAutistic DisorderCells, CulturedChildContactinsElectrophysiological PhenomenaFemaleHeterozygoteHistocompatibility AntigensHistone-Lysine N-MethyltransferaseHumansInduced Pluripotent Stem CellsKinesinsMaleMiddle AgedCNTN5 protein, humanContactinsEHMT2 protein, humanGLI3 protein, humanHistocompatibility AntigensHistone-Lysine N-MethyltransferaseKIF21A protein, humanKinesinsNerve Tissue ProteinsUbiquitin-Conjugating EnzymesUbiquitin-Conjugating Enzyme UBC9Zinc Finger Protein Gli3autismCRISPRgeneticsgenomicshumaniPSCneuroscienceNGN2-neurons

Identifiers

PMID30747104
PMCPMC6372285

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.