Evidence map›Paper›PMID 28388435›Full record

ArticleAmerican journal of human genetics2017

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, Stephan J Sanders, Andrea Lehmann and 51 more

Abstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing 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

14 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Nucleotide metabolism, leukodystrophies, and CNS pathology.Journal of inherited metabolic disease · 2024
    Review
  5. Article
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2018
    Article
  14. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

61 authors.

Sébastien Küry
Thomas Besnard
Frédéric Ebstein
Tahir N Khan
Tomasz Gambin
Jessica Douglas
Carlos A Bacino
William J Craigen
Stephan J Sanders
Andrea Lehmann
Xénia Latypova
Kamal Khan
Mathilde Pacault
Stephanie Sacharow
Kimberly Glaser
Eric Bieth
Laurence Perrin-Sabourin
Marie-Line Jacquemont
Megan T Cho
Elizabeth Roeder
Anne-Sophie Denommé-Pichon
Kristin G Monaghan
Bo Yuan
Fan Xia
Sylvain Simon
Dominique Bonneau
Philippe Parent
Brigitte Gilbert-Dussardier
Sylvie Odent
Annick Toutain
Laurent Pasquier
Deborah Barbouth
Chad A Shaw
Ankita Patel
Janice L Smith
Weimin Bi
Sébastien Schmitt
Wallid Deb
Mathilde Nizon
Sandra Mercier
Marie Vincent
Caroline Rooryck
Valérie Malan
Ignacio Briceño
Alberto Gómez
Kimberly M Nugent
James B Gibson
Benjamin Cogné
James R Lupski
Holly A F Stessman
Evan E Eichler
Kyle Retterer
Yaping Yang
Richard Redon
Nicholas Katsanis
Jill A Rosenfeld
Peter-Michael Kloetzel
Christelle Golzio
Stéphane Bézieau
Paweł Stankiewicz
Bertrand Isidor

Funding

The Role of Basal Bodies in Wnt SignalingR01GM121317 · NIGMS · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2016 to 2019
$1.7M
NIGMS NIH HHS R01 GM121317
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID28388435
PMCPMC5384094

What OpenQuestion holds

Textmetadata
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.