Evidence map›Paper›PMID 36101822›Full record

ArticleJIMD reports2022

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

Milena M Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H Rodan, David R Thorburn, John Christodoulou and 1 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in JIMD reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 52% 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Pooled it
  2. 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

11 authors at 3 institutions in 2 countries.

Milena M AndzelmDepartment of Neurology Children's Hospital Boston Boston Massachusetts USA.ORCID https://orcid.org/0000-0002-9189-1691
Shanti BalasubramaniamWestern Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia.
Edward YangDepartment of Radiology Children's Hospital Boston Boston Massachusetts USA.
Alison G ComptonMurdoch Children's Research Institute Melbourne Victoria Australia.
Kate MillingtonDivision of Endocrinology, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA.
Jia ZhuDivision of Endocrinology, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA.
Irina AnselmDepartment of Neurology Children's Hospital Boston Boston Massachusetts USA.
Lance H RodanDivision of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA.
David R ThorburnMurdoch Children's Research Institute Melbourne Victoria Australia.
John ChristodoulouMurdoch Children's Research Institute Melbourne Victoria Australia.
Siddharth SrivastavaDepartment of Neurology Children's Hospital Boston Boston Massachusetts USA.ORCID https://orcid.org/0000-0001-7008-1879
Boston Children's Hospital · USThe University of Melbourne · AUPrincess Margaret Hospital for Children · AU

Funding

Investigating the Genetic Landscape of Cerebral PalsyK23NS119666 · NINDS · BOSTON CHILDREN'S HOSPITAL · PI SRIVASTAVA, SIDDHARTH · 2021 to 2025
$1.1M
NINDS NIH HHS K23 NS119666
6 · The paper itself

Abstract

Biallelic pathogenic variants in

Indexed as

autoimmune diabetesmitochondrial disorderNDUFS8progressive leukodystrophy

Identifiers

PMID36101822
PMCPMC9458602
OpenAlexW4292707885

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.