Evidence map›Paper›PMID 36980813›Full record

ReviewGenes2023

Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.

Sara M Sarasua, Jane M DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E Powder, Katherine Weisensee, Luigi Boccuto

Open access · goldFull text readReview
In one paragraph

Review in Genes, 2023. 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
1.9field-weighted citation impact, top 14% 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

5 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  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

8 authors at 3 institutions in 1 country.

Sara M SarasuaHealthcare Genetics and Genomics Program, Clemson University School of Nursing, Clemson, SC 29634, USA.ORCID 0000-0002-1625-7404
Jane M DeLucaHealthcare Genetics and Genomics Program, Clemson University School of Nursing, Clemson, SC 29634, USA.
Curtis RogersGreenwood Genetic Center, Greenville, SC 29605, USA.
Katy PhelanFlorida Cancer Specialists & Research Institute, Fort Myers, FL 33908, USA.
Lior RennertDepartment of Public Health Sciences, Clemson University, Clemson, SC 29634, USA.
Kara E PowderDepartment of Biological Sciences, Clemson University, Clemson, SC 29634, USA.ORCID 0000-0001-7415-4262
Katherine WeisenseeDepartment of Sociology, Anthropology and Criminal Justice, Clemson University, Clemson, SC 29634, USA.
Luigi BoccutoHealthcare Genetics and Genomics Program, Clemson University School of Nursing, Clemson, SC 29634, USA.ORCID 0000-0003-2017-4270
Clemson University · USFlorida Cancer Specialists & Research Institute · USGreenwood Genetic Center · US

Funding

Tissue Structural and Neural Remodeling in Human Sacroiliac JointP20GM121342 · NIGMS · CLEMSON UNIVERSITY · PI Hai Yao · 2018 to 2026
$24.7M
Craniofacial Dysmorphology Associated with Phelan-McDermid Syndrome using Three-Dimensional MorphometricsR03DE027497 · NIDCR · CLEMSON UNIVERSITY · PI ROGERS, R CURTIS, WEISENSEE, KATHERINE · 2018 to 2019
$197k
NIDCR NIH HHS R03 DE027497NIGMS NIH HHS P20 GM121342
6 · The paper itself

Abstract

Phelan-McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the

Indexed as

Chromosome DisordersMicrocephalyChromosome DeletionChromosomes, Human, Pair 22Chromosome StructuresHumansInfant, NewbornMitochondrial ProteinsGRAMD4 protein, humanMitochondrial Proteins22q13 deletiongenotype-phenotype correlationhead circumferencemacrocephalymicrocephalyPhelan–McDermid syndrome

Identifiers

PMID36980813
PMCPMC10048319
OpenAlexW4321500081

What OpenQuestion holds

Textfull text, public
LicenceCC BY
reference markers read3
measurements read28
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.