Evidence map›Paper›PMID 38136944›Full record

ArticleGenes2023

Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous

Silas Yip, Kristina Calli, Ying Qiao, Brett Trost, Stephen W Scherer, M E Suzanne Lewis

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 27% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

6 authors at 3 institutions in 1 country.

Silas YipDepartment of Medical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.ORCID 0000-0001-6166-7253
Kristina CalliDepartment of Medical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.ORCID 0000-0002-8632-983X
Ying QiaoDepartment of Medical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.
Brett TrostThe Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.ORCID 0000-0003-4863-7273
Stephen W SchererThe Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
M E Suzanne LewisDepartment of Medical Genetics, University of British Columbia (UBC), Vancouver, BC V6H 3N1, Canada.ORCID 0000-0002-6300-5381
University of British Columbia · CAHospital for Sick Children · CAUniversity of Toronto · CA

Funding

Genome British Columbia B22ITG
6 · The paper itself

Abstract

Autism spectrum disorder (ASD) comprises a group of complex neurodevelopmental features seen in many different forms due to variable causes. Highly impactful ASD-susceptibility genes are involved in pathways associated with brain development, chromatin remodeling, and transcription regulation. In this study, we investigate a proband with complex ASD. Whole genome sequencing revealed a novel de novo missense mutation of a highly conserved amino acid residue (NP_001289981.1:p.His516Gln; chr2:1917275; hg38) in the

Indexed as

Autism Spectrum DisorderGene Expression RegulationGenetic Association StudiesHumansMutation, MissenseNerve Tissue ProteinsPhenotypeTranscription FactorsMYT1L protein, humanNerve Tissue ProteinsTranscription Factorsautism spectrum disorder (ASD)de novoMYT1Lneurodevelopmental disordersingle nucleotide variant (SNV)whole genome sequencing (WGS)

Identifiers

PMID38136944
PMCPMC10742566
OpenAlexW4388971561

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.