Evidence map›Paper›PMID 36324371›Full record

ArticleNeurology. Genetics2022

Phenotypic Spectrum of

Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A Genetti, Heather L Paterson, Belinda S Cowling, Christian Freitag, Alan H Beggs

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

Article in Neurology. Genetics, 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
1.2field-weighted citation impact, top 25% 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

8 citing papers in PubMed, 10 citations in OpenAlex.

  1. Trial
  2. Review
  3. Review
  4. Article
  5. Review
  6. A novelFrontiers in genetics · 2025
    Article
  7. Review
  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

8 authors at 1 institution in 2 countries.

Leslie Hotchkiss HayesDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Morgane PerdominiDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Asli AykanatDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Casie A GenettiDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Heather L PatersonDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Belinda S CowlingDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Christian FreitagDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.
Alan H BeggsDivision of Genetics and Genomics (L.H.H., A.A., C.A.G., H.L.P., A.H.B.), the Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School; Department of Neurology (L.H.H., A.A.), Boston Children's Hospital; and Dynacure (M.P., B.S.C., C.F.), Illkirch, France.ORCID https://orcid.org/0000-0001-8818-0568
Boston Children's Hospital · US

Funding

Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI Hisashi Umemori · 2021 to 2026
$9.4M
NICHD NIH HHS P50 HD105351
6 · The paper itself

Abstract

Background and Objectives: Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene, Methods: Pediatric and adult patients with suspicion for a CNM diagnosis and confirmed heterozygous pathogenic variants in Results: Forty-two patients with Discussion:

Identifiers

PMID36324371
PMCPMC9621335
OpenAlexW4307689965

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.