Evidence map›Paper›PMID 38674358›Full record

ReviewGenes2024

Expansion of the Genotypic and Phenotypic Spectrum of

Ineke Cordova, Alyssa Blesson, Juliann M Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra, Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel

Abstract readReviewCase Reports
In one paragraph

Review in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing 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

8 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. 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

9 authors.

Ineke CordovaAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.ORCID 0009-0003-1136-3202
Alyssa BlessonDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.ORCID 0000-0002-8954-9387
Juliann M SavattAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.
Abigail SvedenRosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.
Sonal MahidaRosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.
Heather HazlettDepartment of Psychiatry, University of North Carolina Intellectual and Developmental Disability Research Center, Chapel Hill, NC 27510, USA.
Erin Rooney RiggsAutism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.
Maya ChopraRosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0002-2574-3375
Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel

Funding

ClinGen AI Data Delivery SupplementU24HG006834 · NHGRI · BROAD INSTITUTE, INC. · PI Marina DiStefano, CHRISTA LESE MARTIN · 2021 to 2026
$26.7M
Preclinical CoreP50HD103573 · NICHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI GABRIEL S DICHTER · 2020 to 2026
$9.7M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
Harnessing Clinical Genomic Characterization to Accelerate Translational Advances for Patients with IDDU01TR002764 · NCATS · WASHINGTON UNIVERSITY · PI PAYNE, PHILIP R.O. · 2020 to 2023
$5.0M
NCATS NIH HHS U01 TR002764NCATS NIH HHS U01TR002764NHGRI NIH HHS U24 HG006834NHGRI NIH HHS U24HG006834NICHD NIH HHS P50 HD103573NICHD NIH HHS P50 HD105351
6 · The paper itself

Abstract

Pathogenic

Indexed as

Histone-Lysine N-MethyltransferaseNeurodevelopmental DisordersPhenotypeAdolescentAutism Spectrum DisorderChildChild, PreschoolDNA-Binding ProteinsFemaleGenotypeHumansIntellectual DisabilityMaleMutationTranscription FactorsASH1L protein, humanDNA-Binding ProteinsHistone-Lysine N-MethyltransferaseTranscription FactorsASH1Lautism spectrum disorderBrain Gene RegistryClinGenGenomeConnecthistone methyltransferaseintellectual disabilityneurodevelopmental disordersyndromic complex neurodevelopmental disorder

Identifiers

PMID38674358
PMCPMC11049257

What OpenQuestion holds

Textmetadata
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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.