Evidence map›Paper›PMID 36379720›Full record

ArticleCold Spring Harbor molecular case studies2022

Rapid genome sequencing identifies a novel de novo

Hayley M Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E Boyden, Pinar Bayrak-Toydemir, Thomas J Nicholas, Shawn Rynearson, Carson Holt and 9 more

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

Article in Cold Spring Harbor molecular case studies, 2022. 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, 12 citations in OpenAlex.

  1. Review
  2. Muscles (Basel, Switzerland) · 2026
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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

19 authors at 4 institutions in 1 country.

Hayley M ReynoldsUniversity of Utah School of Medicine, Salt Lake City, Utah 84112, USA.ORCID 0000-0002-3077-5603
Ting WenUniversity of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Andrew FarrellDepartment of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA.
Rong MaoUniversity of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Barry MooreDepartment of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA.
Steven E BoydenDepartment of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA.
Pinar Bayrak-ToydemirUniversity of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Thomas J NicholasDepartment of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA.
Shawn RynearsonDepartment of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA.
Carson HoltDepartment of Human Genetics, Utah Center for Genetic Discovery, Salt Lake City, Utah 84112, USA.
Christine MillerARUP Laboratories, Salt Lake City, Utah 84108, USA.
Katherine NobleARUP Laboratories, Salt Lake City, Utah 84108, USA.
Dawn BentleyDivision of Neonatology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Rachel PalmquistDivision of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.
Betsy OstranderDivision of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.
Stephanie ManbergDivision of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.
Joshua L BonkowskyDivision of Pediatric Neurology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84113, USA.ORCID 0000-0001-8775-147X
Brian J ShayotaDivision of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
Sabrina Malone JenkinsDivision of Neonatology, Department of Pediatrics University of Utah School of Medicine, Salt Lake City, Utah 84112, USA.
University of Utah · USStar Center · USARUP Laboratories (United States) · USPrimary Children's Hospital · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
From genomics to natural language processing: A protected environment for research computing in the health scienceS10OD021644 · OD · UNIVERSITY OF UTAH · PI CHEATHAM, THOMAS E. · 2017 to 2017
$494k
NCATS NIH HHS UL1 TR002538NIH HHS S10 OD021644
6 · The paper itself

Abstract

Congenital myasthenic syndrome (CMS) is a group of 32 disorders involving genetic dysfunction at the neuromuscular junction resulting in skeletal muscle weakness that worsens with physical activity. Precise diagnosis and molecular subtype identification are critical for treatment as medication for one subtype may exacerbate disease in another (Engel et al.,

Indexed as

Myasthenic Syndromes, CongenitalChromosome MappingHumansPedigreePhenotypeSynaptosomal-Associated Protein 25Whole Genome SequencingSNAP25 protein, humanSynaptosomal-Associated Protein 25arthrogryposis multiplex congenitahydrops fetalispolyhydramniostalipes cavus equinovarus

Identifiers

PMID36379720
PMCPMC9808558
OpenAlexW4309163061

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.