Evidence map›Paper›PMID 33154040›Full record

ArticleCold Spring Harbor molecular case studies2020

Novel de novo

Timothy Tidwell, Malia Deshotel, Janice Palumbos, Chris Miller, Pinar Bayrak-Toydemir, John C Carey

Open access · diamondAbstract read
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2020. 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
–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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Identification of a Fetal De Novo Splice Variant inMaternal-fetal medicine (Wolters Kluwer Health, Inc.) · 2025
    Article
  2. Article
  3. Expanding the phenotypic spectrum of ARCN1-related syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  4. The Radiological and Histological Phenotype of Skeletal Abnormalities in FetalPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
    Article
  5. Review
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 2 institutions in 1 country.

Timothy Tidwell *ARUP Laboratories, Salt Lake City, Utah 84108, USA.
Malia Deshotel *ARUP Laboratories, Salt Lake City, Utah 84108, USA.ORCID 0000-0002-4437-5969
Janice PalumbosDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.
Chris MillerARUP Laboratories, Salt Lake City, Utah 84108, USA.
Pinar Bayrak-ToydemirARUP Laboratories, Salt Lake City, Utah 84108, USA.
John C CareyDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84108, USA.
ARUP Laboratories (United States) · USUniversity of Utah · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
NCATS NIH HHS UL1 TR002538
6 · The paper itself

Abstract

The archain 1 (

Indexed as

Abnormalities, MultipleChild, PreschoolCoatomer ProteinDeglutition DisordersDevelopmental DisabilitiesEndoplasmic ReticulumExome SequencingGenetic Predisposition to DiseaseGolgi ApparatusHumansHypospadiasMaleMicrocephalyMicrognathismPectus CarinatumPhenotypeCoatomer ProteinRNA, Messengerbilateral cryptorchidismbulbous nosedownturned corners of mouthdysphagiamicrocephalymicroretrognathiamild intrauterine growth retardationpenoscrotal hypospadiasrhizomeliasevere global developmental delaysuperior pectus carinatum

Identifiers

PMID33154040
PMCPMC7784487
OpenAlexW3095405941

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.