Evidence map›Paper›PMID 30388405›Full record

ArticleAmerican journal of human genetics2018

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Shereen G Ghosh, Kerstin Becker, He Huang, Tracy Dixon-Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al-Gazali, Quinten Waisfisz, Haicui Wang, Keith K Vaux and 29 more

Open access · bronzeAbstract readPublished Erratum
In one paragraph

Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
0.6field-weighted citation impact, top 28% 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

9 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Episodic psychosis, ataxia, motor neuropathy with pyramidal signs (PAMP syndrome) caused by a novel mutation in ADPRHL2 (AHR3).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    Article
  6. Article
  7. Review
  8. Article
  9. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

39 authors at 1 institution in 1 country.

Shereen G Ghosh
Kerstin Becker
He Huang
Tracy Dixon-Salazar
Guoliang Chai
Vincenzo Salpietro
Lihadh Al-Gazali
Quinten Waisfisz
Haicui Wang
Keith K Vaux
Valentina Stanley
Andreea Manole
Ugur Akpulat
Marjan M Weiss
Stephanie Efthymiou
Michael G Hanna
Carlo Minetti
Pasquale Striano
Livia Pisciotta
Elisa De Grandis
Janine Altmüller
Peter Nürnberg
Holger Thiele
Uluc Yis
Tuncay Derya Okur
Ayse Ipek Polat
Nafise Amiri
Mohammad Doosti
Ehsan Ghayoor Karimani
Mehran B Toosi
Gabriel Haddad
Mert Karakaya
Brunhilde Wirth
Johanna M van Hagen
Nicole I Wolf
Reza Maroofian
Henry Houlden
Sebahattin Cirak
Joseph G Gleeson
Pediatrics and Genetics · US

Funding

High Performance Computing Instrumentation for the Yale Center for Genome AnalysisS10OD030363 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2022 to 2022
$1.2M
High Performance Computing Instrumentation for the Yale Center for Genome AnalysiS10OD018521 · OD · YALE UNIVERSITY · PI MANE, SHRIKANT M · 2015 to 2015
$890k
Molecular mechanisms of the ADPRHL2-mediated pediatric neurodegenerative diseaseF31HD095602 · NICHD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI GHOSH, SHEREEN G. · 2018 to 2020
$116k
Medical Research Council G0601943Medical Research Council MR/K000608/1NICHD NIH HHS F31 HD095602NIH HHS S10 OD018521NIH HHS S10 OD030363
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID30388405
PMCPMC6218605
OpenAlexW3093807237

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.