Evidence map›Paper›PMID 33981319›Full record

ArticleFrontiers in immunology2021

Case Report: Novel Compound Heterozygous

Jessica Garau, Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi, Giana Izzo, Costanza Varesio, Simona Orcesi, Pierangelo Veggiotti and 4 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 51% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. 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

14 authors at 4 institutions in 1 country.

Jessica GarauGenomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
Silvia MasnadaUnit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.
Francesca DragoniGenomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
Daisy SprovieroGenomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
Federico FogolariDepartment of Mathematics, Computer Science and Physics, University of Udine, Udine, Italy.
Stella GagliardiGenomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
Giana IzzoC.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
Costanza VaresioDepartment of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
Simona OrcesiDepartment of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy.
Pierangelo VeggiottiUnit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.
Gian Vincenzo ZuccottiC.O.A.L.A (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milan, Italy.
Orietta PansarasaGenomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
Davide TondutiUnit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.
Cristina CeredaGenomic and Post-Genomic Unit, IRCCS Mondino Foundation, Pavia, Italy.
Italian institute for Genomic Medicine · ITOspedale dei Bambini Vittore Buzzi · ITUniversity of Pavia · ITUniversity of Udine · IT

Funding

Clinical Outcomes in Aicardi Goutières SyndromeU01NS106845 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI VANDERVER, ADELINE LUCIE · 2019 to 2023
$7.5M
NINDS NIH HHS U01 NS106845
6 · The paper itself

Abstract

Aicardi-Goutières Syndrome (AGS) is a rare disorder characterized by neurological and immunological signs. In this study we have described a child with a phenotype consistent with AGS carrying a novel compound heterozygous mutation in

Indexed as

Autoimmune Diseases of the Nervous SystemHumansInfantMaleMutationNervous System MalformationsRibonuclease HRibonuclease Hribonuclease HIIAicardi–Goutières Syndromegeneticsnext generation sequencingnovel mutationRNASEH2B

Identifiers

PMID33981319
PMCPMC8107470
OpenAlexW3157990527

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.